4123
(4.0%)

HSD10 mitochondrial disease
----
HSD10 ミトコンドリア病

感音難聴

X連鎖優性遺伝

HSD10 disease is a rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy.  >> 翻訳 (Google)

4123
(4.0%)

biotin-responsive basal ganglia disease
----
チアミン代謝異常症候群2 (ビオチンまたはチアミン反応型)

眼瞼下垂

常染色体劣性遺伝

4123
(4.0%)

vitamin B12-responsive methylmalonic acidemia type cblA
----
メチルマロン酸尿症 cbIA 型

発作

常染色体劣性遺伝

An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAA gene, encoding MMAA protein.  >> 翻訳 (Google)

4123
(4.0%)

mitochondrial complex III deficiency nuclear type 8
----
ミトコンドリア複合体 III 欠損症, 核型8

視神経杯蒼白

常染色体劣性遺伝

Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the LYRM7 gene.  >> 翻訳 (Google)

4123
(4.0%)

multiple system atrophy
----
多系統萎縮症1, への感受性

尿意切迫

常染色体優性遺伝 常染色体劣性遺伝 孤発性

Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure (cardiovascular and/or urinary), parkinsonism, cerebellar impairment and corticospinal signs with a median survival of 6-9 years.  >> 翻訳 (Google)

4123
(4.0%)

neuronal ceroid lipofuscinosis 3
----
セロイドリポフスチン症, 神経性 3, 若年性 (CLN3)

緑内障

常染色体劣性遺伝

A condition associated with mutation(s) in the CLN3 gene, encoding battenin. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.  >> 翻訳 (Google)

4123
(4.0%)

EAST syndrome
----
けいれん-感音性難聴-運動失調-精神遅滞-電解質アンバランス

多尿

常染色体劣性遺伝

SeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia).  >> 翻訳 (Google)

4123
(4.0%)

renal hypomagnesemia 3
----
低マグネシウム血症, 3, 腎性

反復性尿路感染症

常染色体劣性遺伝

Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure.  >> 翻訳 (Google)

4123
(4.0%)

infantile onset spinocerebellar ataxia
----
ミトコンドリアDNA枯渇症候群7 (肝脳型)

難聴

常染色体劣性遺伝

Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families.  >> 翻訳 (Google)

4123
(4.0%)

Bartter disease type 4a
----
Bartter 症候群4A型-感音難聴

腎不全

常染色体劣性遺伝 Heterogeneous

Any Bartter syndrome in which the cause of the disease is a mutation in the BSND gene.  >> 翻訳 (Google)

4123
(4.0%)

mitochondrial DNA depletion syndrome 1
----
ミトコンドリア DNA 欠乏症候群 1 (MNGIE 型)

感音難聴

常染色体劣性遺伝

4123
(4.0%)

coenzyme Q10 deficiency, primary, 1
----
コエンザイム Q10 欠損症, 原発性, 1

糸球体硬化症

常染色体劣性遺伝

Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ2 gene.  >> 翻訳 (Google)

4123
(4.0%)

succinic semialdehyde dehydrogenase deficiency
----
Succinic semialdehyde dehydrogenase 欠乏症

眼運動の異常

常染色体劣性遺伝

Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe) with the most frequent symptoms being cognitive impairment with prominent deficit in expressive language, hypotonia, ataxia, epilepsy, and behavioral dysregulation.  >> 翻訳 (Google)

4123
(4.0%)

ornithine translocase deficiency
----
高オルニチン血症-高アンモニア血症-ホモシトルリン尿症候群

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)

4123
(4.0%)

Niemann-Pick disease, type C1
----
Niemann-Pick 病C型

垂直性核上性注視麻痺

常染色体劣性遺伝 Heterogeneous

Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein.  >> 翻訳 (Google)

4123
(4.0%)

X-linked spinocerebellar ataxia type 3
----
脊髄小脳失調症, X連鎖性3

感音難聴

X連鎖劣性遺伝

X-linked spinocerebellar ataxia type 3 is a form of spinocerebellar degeneration characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy, and by a progressive course leading to death in childhood. It has been described one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked recessive trait.  >> 翻訳 (Google)

4123
(4.0%)

metachromatic leukodystrophy, juvenile form
----
異染性白質ジストロフィー

遺尿

常染色体劣性遺伝

Metachromatic leukodystrophy is an inherited condition characterized by the accumulation of fats called sulfatides in cells, especially cells of the nervous system. This accumulation results in progressive destruction of white matter of the brain, which consists of nerve fibers covered by myelin.Affected individuals experience progressive deterioration of intellectual functions and motor skills, such as the ability to walk. They also develop loss of sensation in the extremities, incontinence, seizures, paralysis, inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the ARSA and PSAP genes.  >> 翻訳 (Google)

4123
(4.0%)

mitochondrial complex III deficiency nuclear type 2
----
ミトコンドリア複合体 III 欠損症, 核型2

難聴

常染色体劣性遺伝

Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the TTC19 gene.  >> 翻訳 (Google)

4123
(4.0%)

immunodeficiency due to CD25 deficiency
----
免疫不全41-リンパ増殖-自己免疫

糖尿病

常染色体劣性遺伝

4123
(4.0%)

autoimmune lymphoproliferative syndrome type 3
----
自己免疫性リンパ増殖症候群 III

ネフローゼ症候群

常染色体劣性遺伝

A rare, primary immunodeficiency. It is caused by a currently undetermined defect in the Fas-induced apoptosis pathway. No mutations in Fas, FASLG or CASP10 are detectable. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma.  >> 翻訳 (Google)

4123
(4.0%)

hereditary fructose intolerance
----
果糖不耐症, 遺伝性

近位腎尿細管症

常染色体劣性遺伝

Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism, 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)

4123
(4.0%)

Niemann-Pick disease, type C2
----
Niemann-Pick 病C2型

垂直性核上性注視麻痺

常染色体劣性遺伝 Heterogeneous

Niemann-Pick disease type C2 is a rare metabolic condition that affects many different parts of the body. Although signs and symptoms can develop at any age (infancy through adulthood), most affected people develop features of the condition during childhood. Neimann-Pick disease type C2 may be characterized by ataxia (difficulty coordinating movements), vertical supranuclear gaze palsy (inability to move the eyes vertically), poor muscle tone, hepatosplenomegaly (enlarged liver and spleen), interstitial lung disease, intellectual decline, seizures, speech problems, and difficulty swallowing. Niemann-Pick disease type C2 is caused by changes (mutations) in the NPC2 gene and is inherited in an autosomal recessive manner. There is, unfortunately, no cure for Niemann-Pick disease type C2. Treatment is based on the signs and symptoms present in each person.  >> 翻訳 (Google)

4123
(4.0%)

Leigh syndrome
----
Leigh 症候群

感音難聴

常染色体劣性遺伝 Heterogeneous ミトコンドリア遺伝

Leigh syndrome or subacute necrotizing encephalomyelopathy is a progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions.  >> 翻訳 (Google)

4123
(4.0%)

familial amyloid neuropathy
----
アミロイドーシス, 遺伝性, transthyretin 関連

遺尿

常染色体優性遺伝

Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur.  >> 翻訳 (Google)

4123
(4.0%)

spinocerebellar ataxia type 2
----
脊髄小脳性運動失調 2

色素性網膜炎

常染色体優性遺伝 常染色体劣性遺伝 表現促進

Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea.  >> 翻訳 (Google)

4123
(4.0%)

fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
----
混合性酸化的リン酸化欠乏症3

視力障害

常染色体劣性遺伝

Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.  >> 翻訳 (Google)

4123
(4.0%)

spinocerebellar ataxia type 17
----
脊髄小脳失調17

遺尿

常染色体優性遺伝

Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy.  >> 翻訳 (Google)

4123
(4.0%)

mitochondrial DNA depletion syndrome 4a
----
ミトコンドリアDNA枯渇症候群4A (Alpers 型)

視力喪失

常染色体劣性遺伝

Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure.  >> 翻訳 (Google)

4123
(4.0%)

autoimmune lymphoproliferative syndrome type 2A
----
自己免疫性リンパ増殖症候群 II 型 (ALPS2)

ネフローゼ症候群

常染色体優性遺伝

A rare, primary immunodeficiency with an autosomal dominant pattern of inheritance but incomplete penetrance. It is caused by a mutation in the CASP10 (caspase-10) gene that leads to defective Fas-induced apoptosis. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma.  >> 翻訳 (Google)

4123
(4.0%)

cytochrome-c oxidase deficiency disease
----
ミトコンドリア複合体 IV欠損症

蛋白尿

常染色体劣性遺伝 Heterogeneous ミトコンドリア遺伝

A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis.  >> 翻訳 (Google)

4123
(4.0%)

familial hemophagocytic lymphohistiocytosis type 1
----
細網症, 家族性組織球性

被刺激性

常染色体劣性遺伝

Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome with an onset usually occurring within a few months or less common several years after birth.  >> 翻訳 (Google)

4123
(4.0%)

mitochondrial DNA depletion syndrome 9
----
ミトコンドリアDNA枯渇症候群9 (脳筋症型, メチル化尿症を伴う)

難聴

常染色体劣性遺伝

Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated.  >> 翻訳 (Google)

4123
(4.0%)

spinocerebellar ataxia type 1
----
脊髄小脳失調症 1 (SCA1)

緩徐なサッカード性眼球運動

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

Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities.  >> 翻訳 (Google)

4123
(4.0%)

mitochondrial complex III deficiency nuclear type 1
----
ミトコンドリア複合体 III 欠損症, 核型1

難聴

常染色体劣性遺伝 ミトコンドリア遺伝

Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the BCS1L gene.  >> 翻訳 (Google)

4123
(4.0%)

congenital alveolar capillary dysplasia
----
肺胞毛細血管異形成-肺静脈異常

水尿管症

常染色体優性遺伝

Congenital alveolar capillary dysplasia (ACD) is a rare and fatal developmental lung disease characterized by respiratory distress in neonates due to refractory hypoxemia and severe pulmonary arterial hypertension.  >> 翻訳 (Google)

4123
(4.0%)

familial hemophagocytic lymphohistiocytosis 2
----
血球貪食性リンパ組織球症, 家族性, 2 (HPLH2)

被刺激性

常染色体劣性遺伝

Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the PRF1 gene.  >> 翻訳 (Google)