3308
(4.0%)

Chromophobe renal cell carcinoma
----
嫌色素性腎細胞癌

尿道下裂

Chromophobe renal cell carcinoma is a rare subtype of renal cell carcinoma, originating from the intercalating cells of the collecting ducts and macroscopically manifesting as a well-circumscribed, highly lobulated, solid tumor that is usually diagnosed at an early stage. It is frequently asymptomatic, or may present with nonspecific symptoms, such as weight loss, fever or fatigue. The classic presentation observed in renal tumors (hematuria, flank pain and palpable mass) is occasionally observed and usually indicates an advanced stage of the disease. It is most frequently sporadic however, several familial cases, associated with Birt-Hogg Dubé syndrome, have been described.  >> 翻訳 (Google)

3308
(4.0%)

Frasier syndrome
----
Frasier 症候群

性別不明の外性器, 男性

常染色体優性遺伝 体細胞突然変

Frasier syndrome is characterised by the association of male pseudohermaphrodism and glomerular nephropathy. This syndrome is associated with a high risk of developing gonadoblastoma.  >> 翻訳 (Google)

3308
(4.0%)

Hyperinsulinism due to HNF1A deficiency

不穏

Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 (MODY-1; see this term) later in life.  >> 翻訳 (Google)

3308
(4.0%)

Mitochondrial membrane protein-associated neurodegeneration

遺尿

常染色体劣性遺伝

Mitochondrial membrane protein-sssociated neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, and associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities.  >> 翻訳 (Google)

3308
(4.0%)

Pituitary stalk interruption syndrome

停留精巣

Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk.  >> 翻訳 (Google)

3308
(4.0%)

Isovaleric acidemia
----
イソ吉草酸血症 (IVA)

白皮症

常染色体劣性遺伝

An autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase, that has wide clinical variability and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis (brought on by prolonged fasting, an increased intake of protein-rich food or infections) and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients have also been reported.  >> 翻訳 (Google)

3308
(4.0%)

Autosomal recessive spastic paraplegia type 11

白内障

常染色体劣性遺伝

A complex hereditary spastic paraplegia characterized by progressive lower limbs weakness and spasticity, upper limbs weakness, dysarthria, hypomimia, sphincter disturbances, peripheral neuropathy, learning difficulties, cognitive impairment and dementia. Magnetic resonance imaging shows thin corpus callosum, cerebral atrophy, and periventricular white matter changes.  >> 翻訳 (Google)

3308
(4.0%)

Medium chain acyl-CoA dehydrogenase deficiency
----
中鎖アシルCoA脱水素酵素欠損症

チアノーゼ

常染色体劣性遺伝

Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention.  >> 翻訳 (Google)

3308
(4.0%)

Thiamine-responsive megaloblastic anemia syndrome
----
チアミン反応性貧血症候群

感音難聴

常染色体劣性遺伝

Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.  >> 翻訳 (Google)

3308
(4.0%)

Pituicytoma

低ゴナドトロピン性性腺機能低下症

3308
(4.0%)

Meacham syndrome
----
Meacham 症候群

停留精巣

Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations.  >> 翻訳 (Google)

3308
(4.0%)

Mitral atresia
----
MA

性別不明の外性器

3308
(4.0%)

Denys-Drash syndrome
----
ウィルムス腫瘍-仮性半陰陽

停留精巣

常染色体優性遺伝 体細胞突然変

A rare urogenital disorder characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma.  >> 翻訳 (Google)

3308
(4.0%)

Situs ambiguus

コロボーマ

A rare, genetic, developmental defect during embryogenesis characterized by a partial mirror-image transposition of intra-thoracic and/or intra-abdominal organs across the left-right axis of the body. Intra-organ variations and other malformations, such as ciliary motricity anomalies (e.g. Kartagener syndrome), biliary atresia and cardiac defects, are frequently associated. Left (polysplenia syndrome) or right (asplenia syndrome) isomerism are usually observed.  >> 翻訳 (Google)

3308
(4.0%)

Methanol poisoning
----
メタノール中毒

視力障害

Methanol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the alcohol dehydrogenase (ADH)-mediated production of formic acid (which is poisonous to the central nervous system), and characterized by dizziness, nausea, vomiting, confusion, metabolic acidosis, visual disturbances (which if left untreated can lead to blindness), coma, and death (due to respiratory failure).  >> 翻訳 (Google)

3308
(4.0%)

Lymphomatoid papulosis
----
リンパ腫様丘疹症

蛋白尿

Lymphomatoid papulosis (LyP) is a rare cutaneous condition characterized by chronic, recurrent, and self-regressing papulonodular skin eruptions. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders, along with primary cutaneous anaplastic large cell lymphoma (primary C-ALCL; see this term) with which it shares overlapping clinical and histopathologic features.  >> 翻訳 (Google)

3308
(4.0%)

Childhood absence epilepsy
----
小児欠神てんかん

遺尿

常染色体優性遺伝 Heterogeneous

Childhood absence epilepsy (CAE) is a familial generalized pediatric epilepsy, characterized by very frequent (multiple per day) absence seizures, usually occurring in children between the ages of 4 and 10 years, with, in most cases, a good prognosis.  >> 翻訳 (Google)

3308
(4.0%)

Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome

遺尿

常染色体優性遺伝

A rare polymorphic disorder, subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia.  >> 翻訳 (Google)

3308
(4.0%)

Juvenile Huntington disease

行動異常

Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age.  >> 翻訳 (Google)

3308
(4.0%)

Apparent mineralocorticoid excess
----
明らかなミネラロコルチコイド過剰

腎不全

常染色体劣性遺伝

A rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism.  >> 翻訳 (Google)

3308
(4.0%)

Tracheal agenesis

馬蹄腎

Tracheal agenesis (TA) is a rare congenital malformation in which the trachea may be completely absent (agenesis), or partially in place but underdeveloped (atresia). In both cases, proximal-distal communication between the larynx and the alveoli of the lungs is lacking.  >> 翻訳 (Google)

3308
(4.0%)

Pure autonomic failure
----
純粋自律神経失調症

遺尿

Pure autonomic failure (PAF) is a neurodegenerative disease that affects the sympathetic branch of the autonomous nervous system and that manifests with orthostatic hypotension.  >> 翻訳 (Google)

3308
(4.0%)

Glycogen storage disease due to LAMP-2 deficiency

自閉症

X連鎖劣性遺伝 X連鎖優性遺伝

Glycogen storage disease due to LAMP-2 (Lysosomal-Associated Membrane Protein 2) deficiency is a lysosomal glycogen storage disease characterised by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit.  >> 翻訳 (Google)

3308
(4.0%)

Dubin-Johnson syndrome
----
Dubin-Johnson 症候群

黄疸

常染色体劣性遺伝

Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells.  >> 翻訳 (Google)

3308
(4.0%)

Gliomatosis cerebri
----
大脳神経膠腫症

遺尿

3308
(4.0%)

Alveolar soft tissue sarcoma

眼球突出

体細胞突然変

3308
(4.0%)

Female restricted epilepsy with intellectual disability

行動異常

X連鎖遺伝

Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance.  >> 翻訳 (Google)

3308
(4.0%)

Acyl-CoA dehydrogenase 9 deficiency

全身性筋緊張低下

常染色体劣性遺伝

A rare disorder characterized by neurological dysfunction, hepatic failure and cardiomyopathy due to a deficiency of complex I of the respiratory chain.  >> 翻訳 (Google)

3308
(4.0%)

Neuroendocrine tumor of the rectum

血管腫

Neuroendocrine tumor of the rectum is a rare epithelial tumor of rectum arising from enterochromaffin cells, most often in the mid-rectum. The tumors are slow growing, in early stages majority are asymptomatic and are diagnosed incidentally. Later in the course, the tumor may present with rectal bleeding, abdominal or rectal pain, tenesmus, changes in bowel habits, or weight loss. In some cases it may present with carcinoid symptoms of flushing and increased gut motility.  >> 翻訳 (Google)

3308
(4.0%)

Neuroectodermal melanolysosomal disease

斜視

常染色体劣性遺伝

Elejalde syndrome (ES) is characterized by silvery to leaden hair, bronze skin colour in sun-exposed areas and severe neurological impairment.  >> 翻訳 (Google)

3308
(4.0%)

Hereditary fructose intolerance
----
遺伝性フルクトース不耐症

腎不全

常染色体劣性遺伝

Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism (see this term), resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated.  >> 翻訳 (Google)

3308
(4.0%)

Mounier-Kühn syndrome

眼瞼下垂

常染色体劣性遺伝

Mounier-Kühn syndrome, also known as idiopathic tracheobronchomegaly, is a congenital disorder characterized by marked dilatation of the trachea and proximal bronchi that leads to impaired airway secretion clearance and recurrent lower respiratory tract infections.  >> 翻訳 (Google)

3308
(4.0%)

Vitamin B12-unresponsive methylmalonic acidemia

腎不全

常染色体劣性遺伝

Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: mut0 and mut- (see these terms).  >> 翻訳 (Google)

3308
(4.0%)

Gestational choriocarcinoma

血尿

Gestational choriocarcinoma is a gestational trophoblastic tumor (GTT; see this term) occurring secondary to pregnancy (ectopic or normal), miscarriage, voluntary termination of pregnancy (VTP) or a hydatidiform mole (see this term).  >> 翻訳 (Google)

3308
(4.0%)

Neuroendocrine neoplasm of appendix

原発性副腎皮質機能亢進症

Endocrine tumor of the appendix is the most common sporadic neoplasm of the appendix and the second most common type of digestive endocrine tumor, often with no specific clinical presentation. They are divided into either classic endocrine tumor of the appendix or the more aggressive goblet cell carcinoma (GCC; see these terms).  >> 翻訳 (Google)

3308
(4.0%)

Megacystis-microcolon-intestinal hypoperistalsis syndrome
----
内臓ミオパチー

多嚢胞腎異形成

常染色体優性遺伝

Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder (megacystis), microcolon and decreased or absent intestinal peristalsis.  >> 翻訳 (Google)

3308
(4.0%)

Drug-induced lupus erythematosus

血尿

A rare, systemic disease with skin involvement characterized by the onset of idiopathic lupus erythematosus-like signs and symptoms resulting from continuous drug intake (>1 month), which resolve when treatment is discontinued, in persons with no history of autoimmune disease. Manifestations are variable and may be systemic (e.g. arthralgia, myalgia, fever, fatigue, serositis, pleuritis, pericarditis), subacute cutaneous (incl. photosensitive, non-scarring, annular, polycyclic or papulosquamous lesions, malar erythema, vasculitis, bullous lesions, erythema multiforme-like changes), and/or chronic cutaneous (typically discoid lesions in sun-exposed areas). Procainamide and hydrazaline are the drugs most frequently implicated.  >> 翻訳 (Google)

3308
(4.0%)

Hereditary coproporphyria
----
遺伝性コプロポルフィリン症

行動異常

常染色体優性遺伝

Hereditary coproporphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions.  >> 翻訳 (Google)

3308
(4.0%)

Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome

眼瞼下垂

常染色体劣性遺伝

Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome is characterised by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia.  >> 翻訳 (Google)

3308
(4.0%)

Glucocorticoid resistance
----
グルココルチコイド耐性

性別不明の外性器

常染色体優性遺伝 常染色体劣性遺伝

3308
(4.0%)

Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality

紫斑

体細胞突然変 常染色体優性連続遺伝子症候群 孤発性

3308
(4.0%)

Juvenile neuronal ceroid lipofuscinosis
----
若年型神経セロイドリポフスチン症

網膜症

Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities.  >> 翻訳 (Google)

3308
(4.0%)

Deafness-lymphedema-leukemia syndrome

慢性中耳炎

常染色体優性遺伝

Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders.  >> 翻訳 (Google)

3308
(4.0%)

Sympathetic ophthalmia
----
交感性眼炎

緑内障

Sympathetic ophthalmia (SO) is a bilateral granulomatous anterior uveitis usually occurring within the three months following trauma or a surgical procedure involving one eye.  >> 翻訳 (Google)

3308
(4.0%)

Spinocerebellar ataxia type 10

尿意切迫

常染色体優性遺伝 表現促進

Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances.  >> 翻訳 (Google)

3308
(4.0%)

Ileal neuroendocrine tumor

水腎症

Ileal neuroendocrine tumor is a rare, primary, malignant, epithelial neoplasm of the small intestine arising from enterochromaffin cells in the ileum (usually the terminal ileum). Clinical behavior depends on the histologic grade, but initially it is generally characterized by vague abdominal symptoms (cramping, bloating, diarrhea) with insidious onset, although sometimes it could present with signs of bowel obstruction/perforation or gastrointestinal bleeding. Diagnosis in advanced stages with regional or distant spread is common, but signs of carcinoid syndrome (flushing, sweating, diarrhea) are usually not apparent until hepatic metastasis has occurred.  >> 翻訳 (Google)

3308
(4.0%)

Early-onset autosomal dominant Alzheimer disease

視覚の異常

Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old.  >> 翻訳 (Google)

3308
(4.0%)

Secondary short bowel syndrome

原発性甲状腺機能低下症

Secondary short bowel syndrome is an intestinal failure caused by any condition that results in a functional small intestine of less than 200 cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility.  >> 翻訳 (Google)

3308
(4.0%)

Congenital pulmonary airway malformation
----
先天性肺気道奇形

糖尿病

3308
(4.0%)

Cancer-associated retinopathy

網膜症

Cancer associated retinopathy (CAR) is a paraneoplastic disease of the eye associated with the presence of extraocular malignancy and circulating autoantibodies against retinal proteins.  >> 翻訳 (Google)

3308
(4.0%)

Huntington disease
----
Huntington 病

行動異常

常染色体優性遺伝

Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia.  >> 翻訳 (Google)

3308
(4.0%)

T-B+ severe combined immunodeficiency due to gamma chain deficiency

黄疸

X連鎖劣性遺伝

Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.  >> 翻訳 (Google)

3308
(4.0%)

Fatty acid hydroxylase-associated neurodegeneration
----
痙性対麻痺35, 常染色体劣性

斜視

Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a very rare, autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA) characterized by childhood-onset focal dystonia, progressive spastic paraplegia that progresses to tetra paresis, ataxia, dysarthria, intellectual decline, and oculomotor disturbances (optic atrophy), accompanied by iron deposition in the globus pallidus.  >> 翻訳 (Google)

3308
(4.0%)

Leigh syndrome with leukodystrophy

難聴

3308
(4.0%)

Reversible cerebral vasoconstriction syndrome
----
可逆性脳血管攣縮症候群

高血圧

Reversible cerebral vasoconstriction syndrome (RCVS) is an infrequent cerebrovascular disorder characterized by severe headaches with or without focal neurological deficits or seizures, and a reversible segmental and multifocal vasoconstriction of cerebral arteries.  >> 翻訳 (Google)

3308
(4.0%)

Differentiated thyroid carcinoma

複視

Differentiated thyroid carcinoma (DTC), also known as papillary or follicular thyroid carcinoma, is a slow-growing malignancy usually presenting in adults as an asymptomatic thyroid mass.  >> 翻訳 (Google)

3308
(4.0%)

Carcinoma of the ampulla of Vater

水尿管症

Carcinoma of the ampulla of Vater is a rare malignant tumor originating from the ampulla of Vater that can present with symptoms of general fatigue, loss of appetite, weight loss, nausea, vomiting, abdominal pain and, most commonly, painless obstructive jaundice. The tumor is believed to arise from duodenal, biliary or pancreatic epilthelium, resulting in the respective histological types. In general, carcinoma of the ampulla of Vater has a better prognosis (5-year survival rate of 45%) than cancers of the distal bile duct and pancreas.  >> 翻訳 (Google)

3308
(4.0%)

Papillary renal cell carcinoma
----
乳頭状腎細胞癌

馬蹄腎

Papillary renal cell carcinoma is a rare subtype of renal cell carcinoma, arising from the renal tubular epithelium and showing a papillary growth pattern, which typically manifests with hematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Symptoms related to metastatic spread, such as bone pain or persistent cough, are frequently associated since early diagnosis is not common. It is typically multifocal, bilateral, and in most cases sporadic, although different hereditary syndromes, such as Hereditary leiomyoma renal cell carcinoma, Birt-Hogg-Dubé syndrome and Tuberous sclerosis, may predispose to the development of papillary renal cell carcinoma.  >> 翻訳 (Google)

3308
(4.0%)

Acquired idiopathic sideroblastic anemia

高血圧

A rare myelodysplastic syndrome (MDS) characterized by ineffective hemopoiesis affecting one or more blood cell lineages (myeloid, erythroid or megakaryocytic) leading to peripheral blood cytopenias and an increased risk of developing leukaemia.  >> 翻訳 (Google)

3308
(4.0%)

Long chain acyl-CoA dehydrogenase deficiency

自閉性行動

3308
(4.0%)

Corticobasal syndrome
----
皮質基底核症候群

行動異常

Corticobasal syndrome (CBS) is a rare neurodegenerative disease characterized by multifaceted motor system dysfunctions and cognitive defects such as asymmetric rigidity, bradykinesia, limb apraxia, and visuospatial dysfunction.  >> 翻訳 (Google)

3308
(4.0%)

PPoma

甲状腺異常

PPoma is a type of pancreatic endocrine tumor (see this term) that hypersecretes pancreatic polypeptide (PP) but that does not cause a hypersecretion syndrome (is non-functioning) and instead presents with only non-specific symptoms such as weight loss, abdominal pain, jaundice, diarrhea and/or an abdominal mass, hence leading to a late diagnosis. PPoma can be associated with multiple endocrine neoplasia 1 (MEN-1; see this term).  >> 翻訳 (Google)

3308
(4.0%)

Opsoclonus-myoclonus syndrome
----
オプソクローヌス・ミオクローヌス症候群

網膜症

Opsoclonus myoclonus syndrome (OMS) is a rare neuroinflammatory disease of paraneoplastic, parainfectious or idiopathic origin, characterized by opsoclonus, myoclonus, ataxia, and behavioral and sleep disorders.  >> 翻訳 (Google)

3308
(4.0%)

Eosinophilic colitis

自閉症

3308
(4.0%)

Panhypophysitis

無月経

Panhypophysitis is a rare, acquired pituitary hormone deficiency, a type of primary hypophysitis characterized by an inflammation of the entire pituitary gland. Common clinical presentation is diabetes insipidus with polyuria and polydipsia and partial or panhypopituitarism. Other symptoms may include headaches, nausea/vomiting, visual disturbances and fatigue.  >> 翻訳 (Google)

3308
(4.0%)

Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency

色素性網膜症

常染色体劣性遺伝

Hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure.  >> 翻訳 (Google)

3308
(4.0%)

Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy

蛋白尿

3308
(4.0%)

Frontotemporal dementia with motor neuron disease
----
前頭側頭葉認知症 +/- 筋萎縮性側索硬化症1

眼瞼下垂

Frontotemporal dementia with motor neuron disease (FTD-MND) is a type of frontotemporal lobar degeneration characterized by the insidious onset (between the ages of 38-78 years) of dementia-associated psychiatric symptoms (e.g. personality changes, uninhibited behavior, irritability, aggressiveness), memory difficulties, global intellectual impairment, emotional disorders and transcortical motor aphasia that eventually leads to mutism, in addition to the manifestations of motor neuron disease such as neurogenic muscular wasting (similar to what is seen in amyotrophic lateral sclerosis; see this term). The disease is progressive, with death occurring 2-5 years after onset.  >> 翻訳 (Google)

3308
(4.0%)

Spinocerebellar ataxia type 7
----
脊髄小脳失調症7型

網膜症

常染色体優性遺伝 Genetic anticipation with paternal anticipation bias

Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2; see this term), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness.  >> 翻訳 (Google)

3308
(4.0%)

Maternally-inherited diabetes and deafness

腎不全

ミトコンドリア遺伝

Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness.  >> 翻訳 (Google)

3308
(4.0%)

Cocaine intoxication
----
コカイン中毒

精神病

3308
(4.0%)

Multiple endocrine neoplasia type 4

内分泌系異常

常染色体優性遺伝

Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN (see this term), an inherited cancer syndrome, characterized by parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors.  >> 翻訳 (Google)

3308
(4.0%)

Posterior cortical atrophy

視覚の異常

Posterior Cortical Atrophy (PCA) is a rare progressive neurodegenerative disorder with a typical onset between 50-65 years of age characterized by progressive impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities.  >> 翻訳 (Google)

3308
(4.0%)

Dermatofibrosarcoma protuberans
----
隆起性皮膚線維肉腫

攻撃的行動

Dermatofibrosarcoma protuberans (DFSP) is a rare infiltrating soft tissue sarcoma, generally of low grade malignancy, arising from the dermis of the skin and characteristically associated with a specific chromosomal translocation t(17;22).  >> 翻訳 (Google)

3308
(4.0%)

Colchicine poisoning

腎不全

Colchicine poisoning is a potentially life-threatening poisoning, due to ingestion of the drug or consumption of the plant Colchicum autumnale, that usually begins with gastrointestinal symptoms (e.g. abdominal pain, nausea, vomiting, and diarrhea, that cause severe dehydration) and an initial leukocytosis leading to marrow failure (24 hours after ingestion), followed by potentially fatal multi-organ failure with mental status change, oliguric renal failure, disseminated intravascular coagulation, electrolyte imbalance, acid-base disturbance, cardiac failure/arrest and shock within 1-3 days.  >> 翻訳 (Google)

3308
(4.0%)

Primary lateral sclerosis
----
原発性側索硬化症

認知症

Primary lateral sclerosis (PLS) is an idiopathic non-familial motor neuron disease characterized by slowly progressive upper motor neuron dysfunction leading to spasticity, mild weakness in voluntary muscle movement, hyperreflexia, and loss of motor speech production.  >> 翻訳 (Google)

3308
(4.0%)

MODY
----
若年発症成人型糖尿病

腎異常

常染色体優性遺伝

MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes.  >> 翻訳 (Google)

3308
(4.0%)

Acquired ichthyosis
----
後天性魚鱗癬

腎不全

3308
(4.0%)

Fragile X-associated tremor/ataxia syndrome
----
ぜい弱X関連振戦/運動失調症候群

斜視

X連鎖優性遺伝

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia.  >> 翻訳 (Google)

3308
(4.0%)

Epidermodysplasia verruciformis
----
疣贅様表皮異形成への感受性 1

盲

常染色体劣性遺伝

Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer.  >> 翻訳 (Google)

3308
(4.0%)

Fructose-1,6-bisphosphatase deficiency

被刺激性

常染色体劣性遺伝

Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism (see this term) characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants.  >> 翻訳 (Google)

3308
(4.0%)

Wells syndrome

黄疸

Wells syndrome is characterised by the presence of recurrent cellulitis-like eruptions with eosinophilia.  >> 翻訳 (Google)

3308
(4.0%)

Neuroendocrine tumor of stomach

全身疾患の皮膚症状

Gastric neuroendocrine tumor is a rare subtype of neuroendocrine neoplasm, arising from enterochromaffin-like cells in the stomach, with a variable clinical presentation, disease course and prognosis, depending on the disease type and histological grade. Most patients are asymptomatic, with diagnosis usually occurring incidentally during gastroscopy, however, symptoms of dyspepsia, anemia, pain, weight loss and gastrointestinal bleeding can be observed. Association with Zollinger-Ellison syndrome and multiple endocrine neoplasia type I has been reported.  >> 翻訳 (Google)

3308
(4.0%)

Acute fatty liver of pregnancy
----
妊娠性急性脂肪肝

多尿

A rare, severe complication occurring in the third trimester of pregnancy or in early postpartum period bearing a risk for perinatal and maternal mortality and characterized by jaundice, rise of hepatic injuries and evolving to acute liver failure and encephalopathy.  >> 翻訳 (Google)

3308
(4.0%)

Plasma cell leukemia
----
形質細胞性白血病

腎不全

3308
(4.0%)

Adenohypophysitis

無月経

A rare, acquired pituitary hormone deficiency, a type of primary hypophysitis characterized by an inflammation of anterior pituitary. Clinical presentation is variable and includes headaches, visual disturbances, symptoms of adrenal insufficiency, hyperprolactinemia, hypothyroidism and hypogonadism. It most commonly affects young women during pregnancy or postpartum period.  >> 翻訳 (Google)

3308
(4.0%)

Manganese poisoning
----
マンガン中毒

視力障害

3308
(4.0%)

Niemann-Pick disease type C
----
Niemann-Pick 病C型

垂直性核上性注視麻痺

Niemann-Pick disease type C (NP-C) is a lysosomal lipid storage disease (see this term) characterized by variable clinical signs, depending on the age of onset, such as prolonged unexplained neonatal jaundice or cholestasis, isolated unexplained splenomegaly, and progressive, often severe neurological symptoms such as cognitive decline, cerebellar ataxia, vertical supranuclear gaze palsy (VSPG), dysarthria, dysphagia, dystonia, seizures, gelastic cataplexy, and psychiatric disorders.  >> 翻訳 (Google)

3308
(4.0%)

Lafora disease
----
ミオクロニーてんかん Lafora

盲

常染色体劣性遺伝 Heterogeneous

Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive neurological decline.  >> 翻訳 (Google)

3308
(4.0%)

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

網膜症

常染色体劣性遺伝

A mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood of hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and, frequently, cardiac involvement with arrhythmias and/or cardiomyopathy.  >> 翻訳 (Google)

3308
(4.0%)

Beta-ketothiolase deficiency
----
α-メチルアセト酢酸尿症

不穏

常染色体劣性遺伝

A rare organic aciduria affecting ketone body metabolism and the catabolism of isoleucine and characterized by intermittent ketoacidotic episodes associated with vomiting, dyspnea, tachypnoea, hypotonia, lethargy and coma, with an onset during infancy or toddlerhood and usually ceasing by adolescence.  >> 翻訳 (Google)

3308
(4.0%)

Subacute sclerosing leukoencephalitis

ネフローゼ症候群

常染色体劣性遺伝

A chronic progressive encephalitis that develops a few years after measles infection and presents with a demyelination of the cerebral cortex.  >> 翻訳 (Google)

3308
(4.0%)

Ornithine transcarbamylase deficiency
----
オルニチントランスカルバミラーゼ欠損症

盲

X連鎖劣性遺伝

Ornithine transcarbamylase deficiency (OTCD) is a disorder of urea cycle metabolism and ammonia detoxification (see this term) characterized by either a severe, neonatal-onset disease found almost exclusively in males, or later-onset (partial) forms of the disease. Both present with episodes of hyperammonemia that can be fatal and which can lead to neurological complications.  >> 翻訳 (Google)

3308
(4.0%)

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

脈絡膜網膜萎縮

常染色体劣性遺伝

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (triple H syndrome) is a disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or chronic liver dysfunction.  >> 翻訳 (Google)

3308
(4.0%)

Primary hepatic neuroendocrine carcinoma

眼瞼下垂

Primary hepatic neuroendocrine carcinoma (PHNEC) is a rare hepatic tumor that may manifest with abdominal pain or fullness, as well as diarrhea or weight loss. More than 10% of cases are asymptomatic and in rare cases a carcinoid syndrome may be observed.  >> 翻訳 (Google)

3308
(4.0%)

Intermediate uveitis
----
中間部ぶどう膜炎

蛋白尿

3308
(4.0%)

Early-onset schizophrenia

行動異常

A rare, neurologic disease characterized by an early onset of positive and negative symptoms of psychosis that impact development and cognitive functioning. Clinical manifestation commonly include premorbid features of autism spectrum disorders, attention deficits, neurodevelopmental delays, and behavioral abnormalities. After the onset of psychotic symptoms, other comorbidities are also common, including obsessive-compulsive disorder, major depressive disorder, attention deficit hyperactivity disorder, expressive and receptive language disorders, auditory processing deficits, and executive functioning deficits.  >> 翻訳 (Google)

3308
(4.0%)

Mitochondrial DNA-associated Leigh syndrome

腎尿細管異常

Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome (see this term) characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA.  >> 翻訳 (Google)

3308
(4.0%)

VIPoma
----
VIP産生腫瘍

糖尿病

VIPoma is an extremely rare type of pancreatic neuroendocrine tumor (see this term) that secretes vasoactive intestinal polypeptide (VIP) leading to the manifestations of watery diarrhea, hypokalemia and achlorhydia or hypochhlorhydia (known as WDHA syndrome).  >> 翻訳 (Google)

3308
(4.0%)

Hypokalemic periodic paralysis
----
低カリウム血症周期性麻痺1型

女性型乳房

A rare disorder characterised by episodes of muscle paralysis lasting from a few to 24-48 hours and associated with a fall in blood potassium levels.  >> 翻訳 (Google)