3308
(4.0%)

Familial short QT syndrome

失神

Familial short QT syndrome is a newly described cardiologic entity that associates a short QT interval (QT and QTc 300 ms) on the surface electrocardiogram (ECG) with a high risk of syncope or sudden death due to malignant ventricular arrhythmia.  >> 翻訳 (Google)

3308
(4.0%)

Oligomeganephronia

蛋白尿

Oligomeganephronia is a developmental anomaly of the kidneys, and the most severe form of renal hypoplasia (see this term), characterized by a reduction of 80% in nephron number and a marked hypertrophy of the glomeruli and tubules.  >> 翻訳 (Google)

3308
(4.0%)

Glutathione synthetase deficiency
----
ピログルタミン酸尿症

神経系の異常

A rare disorder characterised by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms.  >> 翻訳 (Google)

3308
(4.0%)

Punctate palmoplantar keratoderma type 1

掌蹠角皮症

Punctate palmoplantar keratoderma type I (PPKP1), also known as Buschke-Fischer-Brauer syndrome, is a very rare hereditary skin disease characterized by irregularly distributed epidermal hyperkeratosis of the palms and soles with wide variation among patients..  >> 翻訳 (Google)

3308
(4.0%)

Granular corneal dystrophy type II
----
角膜ジストロフィー, Avellino 型 (CDA)

腎症

常染色体優性遺伝

Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy (see this term) characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment.  >> 翻訳 (Google)

3308
(4.0%)

Paroxysmal extreme pain disorder
----
発作性激痛症

感覚ニューロパチー

常染色体優性遺伝

A rare, genetic, neurological disorder characterized by severe episodic perirectal pain accompanied by skin flushing that is typically precipitated by defecation. Ocular and submaxillary pain, associated with triggers including cold or other irritants, may become more prominent with age.  >> 翻訳 (Google)

3308
(4.0%)

Photosensitive epilepsy

白内障

3308
(4.0%)

Episodic ataxia type 3

耳鳴

常染色体優性遺伝

Episodic ataxia type 3 (EA3) is a very rare form of Hereditary episodic ataxia (see this term) characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia.  >> 翻訳 (Google)

3308
(4.0%)

Startle epilepsy

発作

Startle epilepsy is a rare neurologic disease characterized by frequent and spontaneous epileptic seizures (frequently with symmetrical or asymmetrical tonic features) triggered by a normal startle in response to a sudden and unexpected somatosensory (most frequently auditory) stimulus. Falls are common and can be traumatic. In most cases, the disease is associated with spastic hemi-, di-, or tetraplegia and intellectual disability.  >> 翻訳 (Google)

3308
(4.0%)

Chronic beryllium disease

肺炎

Chronic beryllium disease (CBD) is a granulomatous, interstitial lung disease that occurs in individuals who develop beryllium sensitization (BeS), a cell-mediated immune response to environmental and occupational beryllium exposure. BeS precedes the lung disease that may present with chronic dry cough, fatigue, weight loss, chest pain, and increasing dyspnea.  >> 翻訳 (Google)

3308
(4.0%)

Acute motor and sensory axonal neuropathy
----
急性運動感覚性軸索型ニューロパチー

ポリニューロパチー

A rare motor-sensory, axonal form of Guillain-Barré syndrome (GBS).  >> 翻訳 (Google)

3308
(4.0%)

Extraventricular neurocytoma

多動

Extraventricular neurocytoma (EVN), a variant of central neurocytoma (see this term), is a rare neuronal neoplasm, composed of round cells with neuronal differentiation, which is located outside of the ventricular system, usually within the spinal cord or cerebral hemispheres and that manifests with headache, nausea, vomiting, complex partial seizures or focal neurological deficits. In some cases it may exhibit atypical features consistent with aggressive clinical behavior.  >> 翻訳 (Google)

3308
(4.0%)

Fetal parvovirus syndrome

眼の異常

Foetal parvovirus syndrome is a foetopathy likely to occur when a pregnant woman is infected by parvovirus B19. In adults, the virus causes a butterfly erythema infectiosum (also called Fifth Disease; 'slapped cheek disease') and flu-like symptoms with symmetric polyarthralgias, which usually do not warrant prenatal diagnosis.  >> 翻訳 (Google)

3308
(4.0%)

Mucinous adenocarcinoma of the appendix

鼠径ヘルニア

Mucinous adenocarcinoma of the appendix is a very rare, slow growing, well-differentiated epithelial neoplasm of the appendix characterized by abundant mucin production. Clinically, it presents as acute appendicitis (with abdominal pain, fever, leukocytosis) or as pseudomyxoma peritonei (wide-spread presence of mucin within the peritoneal cavity), however some patients may be completely asymptomatic at the time of diagnosis. In many cases, a second gastrointestinal malignancy is present.  >> 翻訳 (Google)

3308
(4.0%)

Monocytopenia with susceptibility to infections

甲状腺機能低下症

常染色体優性遺伝

Monocytopenia with susceptibility to infections is a rare, genetic, primary immunodeficiency disorder characterized by profound circulating monocytopenia, B- and NK-cell lymphopenia and severe dentritic cell decrease, which manifests clinically with disseminated mycobacterial and viral infections, as well as opportunistic fungal and parasitic infections and frequent pulmonary alveolar proteinosis. Predisposition to developping myeloid neoplasms is associated.  >> 翻訳 (Google)

3308
(4.0%)

Viral myositis
----
ウイルス性筋炎

構音障害

3308
(4.0%)

Radiation myelitis
----
放射線脊髄炎

盲

Radiation myelitis is a rare neurological disease characterized by the development of paresthesias, as well as, in severe cases, progressive paresis and paralysis following irradiation of tumors in which the spinal cord is included within the radiation field. Symptoms may develop months or years after radiation therapy was administered.  >> 翻訳 (Google)

3308
(4.0%)

Acute undifferentiated leukemia

盲

A rare acute leukemia of ambiguous lineage characterized by clonal proliferation of primitive hematopoietic cells, primarily in the bone marrow and blood, lacking lineage-specific markers and detectable genotypic alterations. The patients present with leukocytosis, anemia, variable platelet count and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (lymphadenopathy, splenomegaly, hepatomegaly).  >> 翻訳 (Google)

3308
(4.0%)

St. Louis encephalitis
----
セントルイス脳炎

水頭症

An acute arboviral infection caused by a virus of the Flaviviridae family transmitted by an infected mosquito, and characterized by the onset of flulike symptoms such as fever, malaise, headache, cough, and sore throat that can progress to meningitis or encephalitis with symptoms like nausea, vomiting, confusion, stiff neck, disorientation, irritability, tremors, and convulsions. Photophobia, cranial nerve palsies, and even coma may occur.  >> 翻訳 (Google)

3308
(4.0%)

Malignant mixed Müllerian tumor of the ovary

鼠径ヘルニア

Malignant mixed Müllerian tumor of the ovary is a rare and very aggressive neoplasm presenting most commonly in postmenopausal women and is composed of adenocarcinomatous and sarcomatous elements and, depending on the types of these elements, can be classified as homologous or heterologous. It often has a poor prognosis.  >> 翻訳 (Google)

3308
(4.0%)

Epidermolysis bullosa simplex with mottled pigmentation
----
単純型表皮水泡症-斑状色素沈着

出血傾向

常染色体優性遺伝

Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering with mottled or reticulate brown pigmentation.  >> 翻訳 (Google)

3308
(4.0%)

Keratoderma hereditarium mutilans with ichthyosis

感音難聴

常染色体優性遺伝

Keratoderma hereditarium mutilans with ichthyosis is a diffuse palmoplantar keratoderma characterized by honeycomb palmoplantar hyperkeratosis associated with pseudoainhum of the fifth digit of the hand, ichthyosis and deafness. Keratoderma hereditarium mutilans with ichthyosis follows an autosomal dominant mode of transmission.  >> 翻訳 (Google)

3308
(4.0%)

Port-wine nevi-mega cisterna magna-hydrocephalus syndrome

水頭症

A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.  >> 翻訳 (Google)

3308
(4.0%)

Spinocerebellar ataxia type 23

緩徐なサッカード性眼球運動

常染色体優性遺伝

Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia.  >> 翻訳 (Google)

3308
(4.0%)

Dyschromatosis symmetrica hereditaria
----
遺伝性対称性異色症

斑状色素沈着

常染色体優性遺伝

A rare genodermatosis characterised by the presence of hyperpigmented and hypopigmented macules, principally located on the extremities and limbs.  >> 翻訳 (Google)

3308
(4.0%)

X-linked neurodegenerative syndrome, Bertini type

黄斑変性

An X-linked syndromic intellectual disability characterized by congenital ataxia and generalized hypotonia, global developmental delay with intellectual disability, myoclonic encephalopathy, progressive neurological deterioration, macular degeneration, and recurrent bronchopulmonary infections.  >> 翻訳 (Google)

3308
(4.0%)

Accessory mitral valve tissue

心室中隔欠損

A congenital non-syndromic heart malformation characratized by an accessory mitral valve leaflet or various accessory mitral valve structures. It may be asymptomatic or present at various ages with symptoms of left ventricular outflow tract obstruction, low cardiac output due to subaortic obstruction or congestive heart failure. In some cases, it may be a source of cardioembolism. The malformation may be isolated or associated with other congenital heart malformations.  >> 翻訳 (Google)

3308
(4.0%)

Histidinemia
----
ヒスチジン血症

行動異常

常染色体優性遺伝 常染色体劣性遺伝

Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions.  >> 翻訳 (Google)

3308
(4.0%)

Combined immunodeficiency due to partial RAG1 deficiency

脾腫

常染色体劣性遺伝

Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID; see this term) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia.  >> 翻訳 (Google)

3308
(4.0%)

Rippling muscle disease
----
波紋筋病2

内斜視

Rippling muscle disease is a rare, genetic, neuromuscular disorder characterized by muscle hyperirritability triggered by stretch, percussion or movement. Patients present wave-like, electrically-silent muscle contractions (rippling), muscle mounding, painful muscle stiffness and muscle hypertrophy, usually with elevated serum creatine kinase.  >> 翻訳 (Google)

3308
(4.0%)

Pierson syndrome
----
Pierson 症候群

蛋白尿

常染色体劣性遺伝

A rare syndrome characterised by the association of congenital nephrotic syndrome and ocular anomalies with microcoria.  >> 翻訳 (Google)

3308
(4.0%)

Carbamoyl-phosphate synthetase 1 deficiency

盲

常染色体劣性遺伝

Carbamoyl-phosphate synthetase 1 deficiency (CPS1D) is a rare and severe disorder of urea cycle metabolism most commonly characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia.  >> 翻訳 (Google)

3308
(4.0%)

Hereditary continuous muscle fiber activity

先天性横隔膜ヘルニア

Hereditary continuous muscle fiber activity is a rare, non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia.  >> 翻訳 (Google)

3308
(4.0%)

Chronic hiccup

腎嚢胞

Chronic hiccup is a rare movement disorder characterized by involuntary spasmodic contractions of the inspiratory muscles synchronized with larynx closure lasting for more than 48 hours.  >> 翻訳 (Google)

3308
(4.0%)

Macular amyloidosis
----
斑状アミロイドーシス

腎症

Macular amyloidosis (MA) is a rare chronic form of cutaneous amyloidosis (see this term), a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by pruritic hyperkeratotic gray-brown macules that give a rippled or reticulated pattern of pigmentation usually in the upper back and extensor sites of arms, forearms and legs, and histologically by the deposition of amyloid in the upper dermis and close to the basal cell layer of the epidermis. MA is commonly associated with other skin diseases, such as atopic dermatitis.  >> 翻訳 (Google)

3308
(4.0%)

Unclassified myelodysplastic syndrome

血液および血液痙性組織の異常

Unclassified myelodysplastic syndrome (MDS-U) is a subtype of myelodysplastic syndrome (MDS; see this term) with atypical features of uncertain clinical significance.  >> 翻訳 (Google)

3308
(4.0%)

Carnosinase deficiency
----
カルノシン血症

視神経萎縮

常染色体劣性遺伝

Carnosinemia is a very rare inherited disorder that presents with serum carnosinase deficiency.  >> 翻訳 (Google)

3308
(4.0%)

Autosomal recessive spastic paraplegia type 70

ネフローゼ症候群

Autosomal recessive spastic paraplegia type 70 is a very rare, complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (i.e. crawling, walking) and is characterized by lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, scoliosis and cerebellar abnormalities.  >> 翻訳 (Google)

3308
(4.0%)

IRIDA syndrome

過角化症

常染色体劣性遺伝

IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment.  >> 翻訳 (Google)

3308
(4.0%)

Glycogen storage disease due to muscle phosphofructokinase deficiency

筋虚弱

常染色体劣性遺伝

Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood.  >> 翻訳 (Google)