3308 (4.0%)
|
Autosomal recessive spastic paraplegia type 69
|
難聴
Autosomal recessive spastic paraplegia type 69 is a rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, global developmental delay, hyperreflexia, clonus and extensor plantar reflexes, associated with dysarthria, intellectual disability, cataracts and hearing impairment.
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Orphanet:401830
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
3308 (4.0%)
|
Unverricht-Lundborg disease
---- ウンフェルリヒト・ルントボルク病
|
認知症
常染色体劣性遺伝
Unverricht-Lundborg disease (ULD) is a rare progressive myoclonic epilepsy disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time.
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Orphanet:308
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
KEGG:H00810
KEGG:H01995
Gene Reviews
|
3308 (4.0%)
|
Gemignani syndrome
|
精巣異常
Gemignani syndrome is a rare neurodegenerative disease characterized by slowly progressive ataxia, amyotrophy of the hands and distal arms, spastic paraplegia, progressive sensorineural hearing loss, hypogonadism and short stature. Additional features include generalized cerebellar atrophy and peripheral nervous system anomalies. Small cervical spinal cord, intellectual/language disability and localized vitiligo have also been reported. There have been no further descriptions in the literature since 1989.
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Orphanet:2074
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
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3308 (4.0%)
|
Cataract-ataxia-deafness syndrome
|
感音難聴
常染色体劣性遺伝
Cataract-ataxia-deafness syndrome is characterised by mild intellectual deficit, congenital cataract, progressive sensorineural deafness and ataxia. It has been described in two sisters. The inheritance is likely to be autosomal recessive.
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Orphanet:1368
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
|
3308 (4.0%)
|
Hyperinsulinism due to glucokinase deficiency
|
高インスリン血症性低血糖
常染色体優性遺伝
Heterogeneous
Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism (see this term), caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae.
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Orphanet:79299
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
Gene Reviews
|
3308 (4.0%)
|
Autosomal recessive cerebellar ataxia-psychomotor delay syndrome
|
円滑的追跡眼球運動の異常
常染色体劣性遺伝
A rare, hereditary, cerebellar ataxia disorder characterized by late-onset spinocerebellar ataxia, manifesting with slowly progressive gait disturbances, dysarthria, limb and truncal ataxia, and smooth-pursuit eye movement disturbance, associated with a history of psychomotor delay from childhood. Mild atrophy of the cerebellar vermis and hemispheres is observed on brain imaging.
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Orphanet:284271
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
|
3308 (4.0%)
|
Pseudohypoaldosteronism type 1
|
腎性塩類喪失
Pseudohypoaldosteronism type 1 (PHA1) is a primary form of mineralocorticoid resistance presenting in the newborn with renal salt wasting, failure to thrive and dehydration.
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Orphanet:756
日本語症例報告(J-STAGE & J-GLOBAL)
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症例報告検索
Monarch
|
3308 (4.0%)
|
Pellucid marginal degeneration
|
乱視
Orphanet:137672
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
3308 (4.0%)
|
Pyruvate carboxylase deficiency
---- ピルビン酸カルボキシラーゼ欠損症
|
発作
常染色体劣性遺伝
Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients.
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Orphanet:3008
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
KEGG:H00073
Gene Reviews
|
3308 (4.0%)
|
Progressive epilepsy-intellectual disability syndrome, Finnish type
|
進行性視力喪失
常染色体劣性遺伝
Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision.
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Orphanet:1947
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
|
3308 (4.0%)
|
Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
|
複視
常染色体優性遺伝
Orphanet:53583
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
Gene Reviews
|
3308 (4.0%)
|
Familial partial lipodystrophy, Köbberling type
|
多嚢胞性卵巣
常染色体優性遺伝
Familial partial lipodystrophy, Köbberling type, is a very rare form of familial partial lipodystrophy (FPLD; see this term) of unknown etiology characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be autosomal dominant.
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Orphanet:79084
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
KEGG:H00420
|
3308 (4.0%)
|
SLC35A1-CDG
|
血小板減少
常染色体劣性遺伝
SLC35A1-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage.
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Orphanet:238459
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
Gene Reviews
|
3308 (4.0%)
|
Carney-Stratakis syndrome
|
耳鳴
常染色体優性遺伝
Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites.
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Orphanet:97286
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
3308 (4.0%)
|
Oculogastrointestinal muscular dystrophy
|
眼瞼下垂
常染色体劣性遺伝
Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction.
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Orphanet:1876
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
|
3308 (4.0%)
|
Acute macular neuroretinopathy
|
網膜症
Orphanet:488239
画像検索 (Google)
症例報告検索
|
3308 (4.0%)
|
Alpha-thalassemia-myelodysplastic syndrome
|
出血傾向
An acquired form of alpha-thalassemia characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH).
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Orphanet:231401
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
|
3308 (4.0%)
|
Dehydrated hereditary stomatocytosis
---- 脱水性遺伝性ストマトサイト症 +/- 偽性高カリウム血症 +/- 周生期浮腫)
|
糖尿病
Dehydrated hereditary stomatocytosis (DHS) is a rare hemolytic anemia characterized by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed.
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Orphanet:3202
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
3308 (4.0%)
|
Chronic neutrophilic leukemia
---- 慢性好中球性白血病
|
肝脾腫
Orphanet:86829
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
3308 (4.0%)
|
Balint syndrome
---- Balint症候群
|
盲
Balint syndrome is a rare neurologic disease characterized by the triad of optic ataxia, ocular apraxia and simultanagnosia due to posterior parietal lobe lesions. Patients report ophthalmologic difficulties in the absence of underlying ophthalomologic anomalies and present severe visual and spatial disabilities in locating and reaching objects, initiating voluntary eye movements and perceiving more than one object at a time.
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Orphanet:363746
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
3308 (4.0%)
|
3-methylglutaconic aciduria type 3
|
視力障害
常染色体劣性遺伝
3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterised by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria.
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Orphanet:67047
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
Gene Reviews
|
3308 (4.0%)
|
Spastic paraparesis-deafness syndrome
|
性腺機能低下症
X連鎖遺伝
Spastic paraparesis-deafness syndrome is a chronic neurodegenerative disorder characterised by spastic paraparesis (beginning at about 10 years of age) and hearing deficits.
>> 翻訳 (Google)
Orphanet:2815
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
|
3308 (4.0%)
|
Granulomatous slack skin
---- 肉芽腫様弛緩皮膚
|
腎石灰化症
Granulomatous slack skin (GSS) is a variant of mycosis fungoides (MF; see this term), a form of cutaneous T-cell lymphoma, and is characterized by the presence of circumscribed areas of pendulous lax skin.
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Orphanet:33111
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
3308 (4.0%)
|
Drug-induced autoimmune hemolytic anemia
---- 薬剤性自己免疫性溶血性貧血
|
蒼白
Drug-induced autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia (AIHA; see this term) that occurs as a reaction to therapeutic drugs, and can be due to various mechanisms.
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Orphanet:90037
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
3308 (4.0%)
|
Radiation proctitis
---- 放射線性直腸炎
|
下痢
Radiation proctitis is a rare rectal disease directly induced by pelvic radiotherapy and characterized by rectal bleeding, change in bowel habits, tenesmus and sepsis.
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Orphanet:70475
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
3308 (4.0%)
|
Distomatosis
---- ジストマ症
|
脳症
A group of parasitoses caused by flat worms that live in contact with epitheliums. Clinical classification depends on the organ infected by the adult parasite: liver, lungs, or intestines.
>> 翻訳 (Google)
Orphanet:1685
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
3308 (4.0%)
|
Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum
---- 中毒性表皮壊死症
|
湿疹
Toxic epidermal necrolysis (TEN) is an acute and severe skin disease with clinical and histological features characterized by the destruction and detachment of the skin epithelium and mucous membranes.
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Orphanet:95455
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
3308 (4.0%)
|
Familial melanoma
---- 家族性黒色腫
|
網膜症
Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family.
>> 翻訳 (Google)
Orphanet:618
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
3308 (4.0%)
|
Chordoid glioma
|
水頭症
Chordoid glioma is an extremely rare glial neoplasm occurring in the region of the anterior third ventricle or hypothalamus, which is non-infiltrative and well-circumscribed and presents most frequently in middle-aged women with symptoms of memory loss and headaches and, because of its location, has a poor prognosis due to surgical morbidity.
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Orphanet:251674
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
3308 (4.0%)
|
CD4+/CD56+ hematodermic neoplasm
|
攻撃的行動
Orphanet:86870
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
3308 (4.0%)
|
Glycogen storage disease due to glycogen branching enzyme deficiency
|
筋緊張低下
常染色体劣性遺伝
Glycogen branching enzyme (GBE) deficiency (Andersen's disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases (see these terms).
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Orphanet:367
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
KEGG:H01942
Gene Reviews
|
3308 (4.0%)
|
COASY protein-associated neurodegeneration
|
強迫性行動
常染色体劣性遺伝
COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder.
>> 翻訳 (Google)
Orphanet:397725
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
|
3308 (4.0%)
|
Spinocerebellar ataxia type 40
|
垂直性核上性注視麻痺
常染色体優性遺伝
Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis.
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Orphanet:423275
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
|
3308 (4.0%)
|
46,XX ovotesticular disorder of sex development
|
女性内性器異常
46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype.
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Orphanet:2138
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
3308 (4.0%)
|
Familial multinodular goiter
|
甲状腺機能亢進症
常染色体優性遺伝
Orphanet:276399
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
Gene Reviews
|
3308 (4.0%)
|
NK-cell enteropathy
|
浮腫
Natural killer (NK)-cell enteropathy is a benign NK-cell lymphoproliferative disease characterized by minor abdominal symptoms (abdominal pain, diverticulosis, constipation and reflux) due to NK cell-derived lesions in the mucosal layer of the gastrointestinal tract and often mistaken for NK or T-cell lymphoma (see these terms).
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Orphanet:263665
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
3308 (4.0%)
|
Glycogen storage disease due to hepatic glycogen synthase deficiency
|
被刺激性
常染色体劣性遺伝
A genetically inherited anomaly of glycogen metabolism and a form of glycogen storage disease (GSD) characterized by fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves.
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Orphanet:2089
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
KEGG:H01950
|
3308 (4.0%)
|
Oculocutaneous albinism type 4
|
斜視
常染色体劣性遺伝
Oculocutaneous albinism type 4 (OCA4) is a type of OCA (see this term) characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm.
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Orphanet:79435
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
Gene Reviews
|
3308 (4.0%)
|
Olivopontocerebellar atrophy-deafness syndrome
|
難聴
Olivopontocerebellar atrophy-deafness syndrome is characterised by infancy-onset olivopontocerebellar atrophy, sensorineural deafness and speech impairment. It has been described in less than 15 children. Most cases were sporadic, but autosomal recessive inheritance was suggested in three cases.
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Orphanet:2732
画像検索 (Google)
症例報告検索
|
3308 (4.0%)
|
Tricuspid valve prolapse
---- 三尖弁逸脱症
|
馬蹄腎
A rare, congenital, non-syndromic heart malformation characterized by bulking of tricuspid valve into the right atrium during systole. It can be isolated, but is more often associated with mitral valve prolapse or with other cardiac and lung diseases. Clinical presentation depends on severity and associated findings and there is a high incidence of cardiac arrhythmias and possible bacterial endocarditis.
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Orphanet:95458
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|