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)

3308
(4.0%)

Citrullinemia type II

精神病

A severe subtype of citrin deficiency characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma.  >> 翻訳 (Google)

3308
(4.0%)

Propionic acidemia
----
プロピオン酸血症

認知症

常染色体劣性遺伝

Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.  >> 翻訳 (Google)

3308
(4.0%)

Atypical hemolytic uremic syndrome
----
非典型溶血性尿毒症症候群

腎不全

A rare thrombotic microangiopathy disorder characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction.  >> 翻訳 (Google)

3308
(4.0%)

Non-functioning pituitary adenoma

男性性腺機能低下症

3308
(4.0%)

Leigh syndrome with cardiomyopathy

腎尿細管異常

3308
(4.0%)

Ovarian hyperstimulation syndrome
----
卵巣過剰刺激症候群

腎炎

常染色体優性遺伝

3308
(4.0%)

Multiple endocrine neoplasia type 1
----
多発性内分泌腫瘍症1型

インポテンス

常染色体優性遺伝

Multiple endocrine neoplasia Type 1 (MEN1) is a frequent form of MEN (see this term), a rare inherited cancer syndrome, characterized by the development of neuroendocrine tumors of the parathyroid, pancreas, and anterior pituitary gland, and less commonly the adrenal cortical gland, with other non-endocrine tumors in some patients.  >> 翻訳 (Google)

3308
(4.0%)

Sheehan syndrome
----
シーハン症候群

多尿

Sheehan syndrome is a rare, acquired, pituitary hormone deficiency disorder resulting from pituitary necrosis following peri- or postpartum hemorrhage characterized by various symptoms depending on resulting hormone decrease (e.g. failure or difficulty with lactation, oligo- or amenorrhea, hot flashes, decreased libido, weakness, fatigue, anorexia, nausea, vomiting, hypoglycemia, hyponatremia, dizziness, decreased muscle mass, adrenal crisis). Secondary hypothyroidism and secondary adrenal insufficiency may also be presenting signs.  >> 翻訳 (Google)

3308
(4.0%)

Serotonin syndrome
----
セロトニン症候群

視力障害(霧視、かすみ目)

Serotoninergic syndrome is characterised by an excess of serotonin in the central nervous system, associated with the use of various agents, including selective serotonin reuptake inhibitors (SSRIs).  >> 翻訳 (Google)