4123
(4.0%)

immunodeficiency 25
----
免疫不全25

好酸球増多症

常染色体劣性遺伝

Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD247 gene.  >> 翻訳 (Google)

4123
(4.0%)

autism, susceptibility to, 3
----
自閉症への感受性 3

自閉症

Heterogeneous 多因子性遺伝 孤発性

4123
(4.0%)

autism, susceptibility to, X-linked 2
----
自閉症への感受性, X連鎖性, 2

自閉症

X連鎖遺伝 Heterogeneous 多因子性遺伝 孤発性

A class of genetic disorders resulting in intellectual disability that is associated either with mutations of genes located on the X chromosome or aberrations in the structure of the X chromosome (sex chromosome aberrations).  >> 翻訳 (Google)

4123
(4.0%)

spinocerebellar ataxia type 19/22
----
脊髄小脳失調19 (SCA19)

構音障害

常染色体優性遺伝

Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor.  >> 翻訳 (Google)

4123
(4.0%)

intellectual disability, autosomal recessive 53
----
精神遅滞, 常染色体劣性53

発語および言語発達遅延

常染色体劣性遺伝

4123
(4.0%)

encephalopathy due to prosaposin deficiency
----
混合性サポニン欠損症

視神経萎縮

常染色体劣性遺伝

Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses.  >> 翻訳 (Google)

4123
(4.0%)

spinocerebellar ataxia type 23
----
脊髄小脳失調症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). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia.  >> 翻訳 (Google)

4123
(4.0%)

neuronal ceroid lipofuscinosis 4A
----
セロイドリポフスチノーシス, 神経性 4, 常染色体劣性

うつ

常染色体劣性遺伝

Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN6 gene.  >> 翻訳 (Google)

4123
(4.0%)

autosomal dominant optic atrophy, classic form
----
視神経萎縮 1 (OPA1)

斜視

常染色体優性遺伝

Autosomal dominant optic atrophy (ADOA) is one of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss during the first decade of life, associated with optic disc pallor, visual field and color vision defects.  >> 翻訳 (Google)

4123
(4.0%)

Leber congenital amaurosis 1
----
Leber 先天性黒内障 I 型 (LCA1)

感音難聴

常染色体劣性遺伝

Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GUCY2D gene.  >> 翻訳 (Google)

4123
(4.0%)

pyruvate carboxylase deficiency disease
----
ピルビン酸カルボキシラーゼ欠損症

知的障害

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.  >> 翻訳 (Google)

4123
(4.0%)

intellectual disability, autosomal recessive 58
----
精神遅滞, 常染色体劣性58

攻撃的行動

常染色体劣性遺伝

Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the ELP2 gene.  >> 翻訳 (Google)

4123
(4.0%)

cardiac valvular dysplasia, X-linked
----
心弁異形成, X連鎖性 (XLVD)

僧帽弁逸脱

X連鎖遺伝 X連鎖劣性遺伝

4123
(4.0%)

autosomal recessive spinocerebellar ataxia 7
----
脊髄小脳失調, 常染色体劣性, 小児期発症

眼振

常染色体劣性遺伝

Spinocerebellar ataxia autosomal recessive 7, also called SCAR7, is a slowly progressive hereditary form of spinocerebellar ataxia. Symptoms of SCAR7 can include difficulty walking and writing, speech difficulties (dysarthria), limb ataxia, and a decrease in the size of a region of the brain called the cerebellum (cerebellar atrophy). Of the few reported cases in the literature, some patients also had eye involvement that included nystagmus (in voluntary eye movements)and saccadic pursuit eye movements. Out of 5 affected siblings examined in a large Dutch family, 2 became wheelchair-dependent late in life. The severity of the symptoms varies from mild to severe. SCAR7 is caused by mutations in the TPP1 gene and is inherited in an autosomal recessive manner.  >> 翻訳 (Google)

4123
(4.0%)

X-linked progressive cerebellar ataxia
----
小脳性運動失調, X連鎖性 (CLA2)

斜視

X連鎖遺伝 X連鎖劣性遺伝

4123
(4.0%)

autosomal recessive spinocerebellar ataxia 14
----
脊髄小脳失調症, 常染色体劣性14

測定過少性サッケード (断続性運動)

常染色体劣性遺伝

Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement).  >> 翻訳 (Google)

4123
(4.0%)

obesity due to CEP19 deficiency
----
病的肥満-精子形成不全

無精子症

常染色体劣性遺伝

4123
(4.0%)

spinocerebellar ataxia type 28
----
脊髄小脳失調28

眼瞼下垂

常染色体優性遺伝

Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration.  >> 翻訳 (Google)

4123
(4.0%)

frontotemporal dementia and/or amyotrophic lateral sclerosis 2
----
前頭側頭葉認知症 +/- 筋萎縮性側索硬化症2

感音難聴

常染色体優性遺伝

An amyotrophic lateral sclerosis that has material basis in mutation in the CHCHD10 gene on chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis.  >> 翻訳 (Google)

4123
(4.0%)

developmental and epileptic encephalopathy, 37
----
てんかん性脳症, 早期乳児性, 37

眼振

常染色体劣性遺伝

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FRRS1L gene.  >> 翻訳 (Google)

4123
(4.0%)

autosomal recessive ataxia, Beauce type
----
脊髄小脳失調, 常染色体劣性8

眼振

常染色体劣性遺伝

A rare disorder characterised by a slowly progressive pure cerebellar ataxia associated with dysarthria. It has been described in 53 individuals from 26 families of Canadian origin. The mode of transmission is autosomal recessive. Positional cloning has led to the identification of several gene mutations.  >> 翻訳 (Google)

4123
(4.0%)

congenital secretory chloride diarrhea 1
----
下痢症 1, 分泌性クロール, 先天性

レニン-アンギオテンシン系活動亢進

常染色体劣性遺伝

Any secretory diarrhea in which the cause of the disease is a mutation in the SLC26A3 gene.  >> 翻訳 (Google)

4123
(4.0%)

acyl-CoA dehydrogenase 9 deficiency
----
ミトコンドリア複合体 I 欠乏症, 核型20

全身性筋緊張低下

常染色体劣性遺伝

Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is a rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy.  >> 翻訳 (Google)

4123
(4.0%)

mitochondrial complex 1 deficiency, nuclear type 16
----
ミトコンドリア複合体 I 欠損症, 核型16

眼瞼下垂

常染色体劣性遺伝

4123
(4.0%)

mitochondrial complex 1 deficiency, nuclear type 10
----
ミトコンドリア複合体 I 欠損症, 核型10

外眼筋麻痺

常染色体劣性遺伝

4123
(4.0%)

sickle cell anemia
----
鎌状赤血球性貧血

腎不全

常染色体劣性遺伝

Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur.  >> 翻訳 (Google)

4123
(4.0%)

maple syrup urine disease
----
メープルシロップ尿症

幻覚

常染色体劣性遺伝

An autosomal recessive inherited disorder caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes. It is characterized by a deficiency of branched-chain alpha-keto acid dehydrogenase complex, leading to accumulation of metabolites in the body fluids. The name of the disease derives from the sweet odor of the urine in infants, reminiscent of maple syrup. Signs and symptoms usually appear in infancy and include lethargy and developmental delays. If untreated, it may lead to seizures, coma, and death.  >> 翻訳 (Google)

4123
(4.0%)

semantic dementia
----
前頭側頭葉認知症

口愛過度

常染色体優性遺伝 Heterogeneous

Semantic dementia (SD) is a form of frontotemporal dementia (FTD), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes.  >> 翻訳 (Google)

4123
(4.0%)

carbamoyl phosphate synthetase I deficiency disease
----
高アンモニア血症, カルバモイルリン酸合成酵素欠損による (CPS1)

被刺激性

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)

4123
(4.0%)

Norrie disease
----
Norrie 病 (NDP; ND)

感音難聴

X連鎖劣性遺伝

Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders.  >> 翻訳 (Google)

4123
(4.0%)

episodic ataxia type 2
----
運動失調, 周期性前庭小脳性

耳鳴

常染色体優性遺伝

Episodic ataxia type 2 (EA2) is the most frequent form of Hereditary episodic ataxia (EA) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia.  >> 翻訳 (Google)

4123
(4.0%)

fatal familial insomnia
----
家族性致死性不眠 (FFI)

尿閉

常染色体優性遺伝

Fatal familial insomnia (FFI) is a very rare form of prion disease characterized by subacute onset of insomnia showing as a reduced overall sleep time, autonomic dysfunction, and motor disturbances.  >> 翻訳 (Google)

4123
(4.0%)

MPI-CDG
----
先天的グリコシル化障害 Ib 型 (CDG1B)

高インスリン血症性低血糖

常染色体劣性遺伝

MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombine III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1).  >> 翻訳 (Google)

4123
(4.0%)

holocarboxylase synthetase deficiency
----
ホロカルボキシラーゼ欠損合成酵素欠損症

被刺激性

常染色体劣性遺伝

Holocarboxylase synthetase (HCS) deficiency is a life-threatening early-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma.  >> 翻訳 (Google)

4123
(4.0%)

nephronophthisis 2
----
ネフロン癆 2 (NPHP2)

ネフロン癆

常染色体劣性遺伝

Any nephronophthisis in which the cause of the disease is a mutation in the INVS gene.  >> 翻訳 (Google)

4123
(4.0%)

classic galactosemia
----
ガラクトース血症

白内障

常染色体劣性遺伝

Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.  >> 翻訳 (Google)

4123
(4.0%)

paragangliomas 3

不安 (褐色細胞腫を伴う)

常染色体優性遺伝

Any paraganglioma in which the cause of the disease is a mutation in the SDHC gene.  >> 翻訳 (Google)

4123
(4.0%)

oculocutaneous albinism type 1A
----
眼皮膚型白皮症 IA 型

乱視

常染色体劣性遺伝

Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA, where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves.  >> 翻訳 (Google)

4123
(4.0%)

neuronal ceroid lipofuscinosis 4B
----
セロイド-リポフスシン症, ニューロン性, 4B, 常染色体優性

うつ

常染色体優性遺伝

A condition associated with mutation(s) in the DNAJC5 gene, encoding dnaJ homolog subfamily C member 5. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.  >> 翻訳 (Google)

4123
(4.0%)

spinocerebellar ataxia type 13
----
脊髄小脳性運動失調13

難聴

常染色体優性遺伝

Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia.  >> 翻訳 (Google)

4123
(4.0%)

lipoyl transferase 1 deficiency
----
Lipoyltransferase 1 欠乏症

全般性発達遅滞

常染色体劣性遺伝

4123
(4.0%)

developmental and epileptic encephalopathy, 72

乱視

常染色体優性遺伝

4123
(4.0%)

spinocerebellar ataxia, autosomal recessive 26
----
脊髄小脳失調症, 常染色体劣性26

眼振

常染色体劣性遺伝

4123
(4.0%)

autosomal dominant Alport syndrome
----
Alport 症候群, 常染色体優性

腎不全

常染色体優性遺伝

Autosomal dominant Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance.Alport syndrome has autosomal dominant inheritance in about 5 percent of cases. People with this form of Alport syndrome have one mutation in either the COL4A3 or COL4A4 gene in each cell.  >> 翻訳 (Google)

4123
(4.0%)

ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
----
Poretti-Boltshauser 症候群

斜視

常染色体劣性遺伝

Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome is a rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development, and intellectual disability in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy, and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease.  >> 翻訳 (Google)

4123
(4.0%)

adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
----
進行性外眼筋麻痺-ミトコンドリアDNA欠乏, 常染色体劣性4

感音難聴

常染色体劣性遺伝

Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency is an extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism.  >> 翻訳 (Google)

4123
(4.0%)

hyperprolinemia type 1
----
高プロリン血症 I 型

攻撃的行動

常染色体劣性遺伝

Hyperprolinaemia type I is an inborn error of proline metabolism characterised by elevated levels of proline in the plasma and urine. The prevalence is unknown. The disorder is generally considered to be benign but associations with renal abnormalities, epileptic seizures, and other neurological manifestations, as well as certain forms of schizophrenia have been reported. It is transmitted as an autosomal recessive trait and is caused by mutations in the proline dehydrogenase or proline oxidase gene (PRODH or POX, 22q11.2).  >> 翻訳 (Google)

4123
(4.0%)

aldosterone-producing adenoma with seizures and neurological abnormalities
----
原発性アルドステロン症-けいれん-神経学的異常

腎結石

常染色体優性遺伝

4123
(4.0%)

developmental delay and seizures with or without movement abnormalities
----
発達遅滞-けいれん+/-運動異常

発語および言語発達遅延

常染色体優性遺伝

DEDSM is a neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component. Most patients have delayed motor development and show abnormal movements, including ataxia, dystonia, and tremor (summary by {1:Hamdan et al., 2017}).  >> 翻訳 (Google)

4123
(4.0%)

lissencephaly type 1 due to doublecortin gene mutation
----
滑脳症, X連鎖性, 1 (XLIS1)

小陰茎

X連鎖遺伝

Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterised by intellectual deficiency and seizures that are more severe in male patients.  >> 翻訳 (Google)

4123
(4.0%)

Joubert syndrome 9
----
Joubert 症候群 9

乱視

常染色体劣性遺伝

Any Joubert syndrome in which the cause of the disease is a mutation in the CC2D2A gene.  >> 翻訳 (Google)

4123
(4.0%)

myopathy, lactic acidosis, and sideroblastic anemia 2
----
ミオパチー-乳酸性アシドーシス-鉄芽球性貧血2

斜視

常染色体劣性遺伝

Any mitochondrial myopathy and sideroblastic anemia in which the cause of the disease is a mutation in the YARS2 gene.  >> 翻訳 (Google)

4123
(4.0%)

glycogen storage disease due to phosphoglycerate kinase 1 deficiency
----
Phosphoglycerate kinase 1 欠乏症

腎不全

X連鎖劣性遺伝

Phosphoglycerate kinase (PGK) deficiency is a metabolic disorder characterized by variable combinations of nonspherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities.  >> 翻訳 (Google)

4123
(4.0%)

congenital generalized lipodystrophy type 3
----
リポジストロフィー, 先天性全身性, 3型

原発性無月経

常染色体劣性遺伝

Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAV1 gene.  >> 翻訳 (Google)

4123
(4.0%)

leukoencephalopathy, progressive, with ovarian failure
----
白質脳症, 進行性-卵巣機能不全

眼振

常染色体劣性遺伝

4123
(4.0%)

angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert
----
血管腫症, びまん性皮質髄膜, Divry と Van Bogaert

情動不安定

常染色体劣性遺伝 孤発性

4123
(4.0%)

neuronal ceroid lipofuscinosis 7
----
セロイドリポフスチノーシス, 神経性 7

網膜症

常染色体劣性遺伝

Neuronal ceroid lipofuscinosis 7 (CLN7-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 5 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). CLN7-NCL is caused by changes (mutations) in the MFSD8 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.  >> 翻訳 (Google)

4123
(4.0%)

mitochondrial complex 1 deficiency, nuclear type 33
----
ミトコンドリア複合体 I 欠損症, 核型3.

視神経萎縮

常染色体劣性遺伝

4123
(4.0%)

diabetes insipidus, nephrogenic, X-linked
----
尿崩症, 腎性, X連鎖性

巨大膀胱

X連鎖劣性遺伝 Heterogeneous

4123
(4.0%)

mitochondrial complex 1 deficiency, nuclear type 21
----
ミトコンドリア複合体 I 欠損症, 核型21

斜視

常染色体劣性遺伝

4123
(4.0%)

juvenile onset Parkinson disease 19A
----
パーキンソン病19A, 若年発症

測定過少性サッケード (断続性運動)

常染色体劣性遺伝

Any Parkinson disease in which the cause of the disease is a mutation in the DNAJC6 gene.  >> 翻訳 (Google)

4123
(4.0%)

mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5
----
ミトコンドリア複合体V (ATP synthase)

発語および言語発達遅延

常染色体劣性遺伝

4123
(4.0%)

glycine encephalopathy
----
グリシン脳症

不穏状態

常染色体劣性遺伝

Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity.  >> 翻訳 (Google)

4123
(4.0%)

ornithine carbamoyltransferase deficiency
----
高アンモニア血症, オルニチン-トランスカルバミラーゼ欠損症による

被刺激性

X連鎖劣性遺伝

Ornithine transcarbamylase deficiency (OTCD) is a disorder of urea cycle metabolism and ammonia detoxification 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)

4123
(4.0%)

X-linked adrenal hypoplasia congenita
----
副腎低形成, 先天性

無精子症

X連鎖劣性遺伝

A X-linked condition characterized by underdevelopment of the adrenal gland and adrenal insufficiency caused by mutation(s) in the NR0B1 gene, resulting in decreased activity of the nuclear receptor protein DAX1, which may be associated with hypogonadotropic hypogonadism.  >> 翻訳 (Google)

4123
(4.0%)

very long chain acyl-CoA dehydrogenase deficiency
----
アシル-CoA 脱水素酵素欠損症欠損症, 極長鎖型

筋緊張低下

常染色体劣性遺伝

Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis.  >> 翻訳 (Google)

4123
(4.0%)

Lafora disease
----
ミオクロニーてんかん Lafora

視力喪失

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)

4123
(4.0%)

right atrial isomerism (disease)
----
右房イソメリズム

鼠径ヘルニア

常染色体劣性遺伝

A visceral heterotaxy characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and may be associated with bilateral trilobed lungs, midline liver, asplenia and situs inversus affecting other organs that has material basis in homozygous mutation in the GDF1 gene on chromosome 19p12.  >> 翻訳 (Google)

4123
(4.0%)

3-methylglutaconic aciduria type 5
----
3-メチルグルタコン酸尿症V型

停留精巣

常染色体劣性遺伝

Dilated cardiomyopathy with ataxia (DCMA) is characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.  >> 翻訳 (Google)

4123
(4.0%)

congenital thrombotic thrombocytopenic purpura
----
T血栓性血小板減少性紫斑病, 家族性

蛋白尿

常染色体劣性遺伝

Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.  >> 翻訳 (Google)

4123
(4.0%)

ethylmalonic encephalopathy
----
脳症, エチルコハク酸性

点状出血

常染色体劣性遺伝

Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhoea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities.  >> 翻訳 (Google)

4123
(4.0%)

neuronal ceroid lipofuscinosis 9
----
セロイドリポフスチン症, 神経性9

色素性網膜炎

常染色体劣性遺伝

Neuronal ceroid lipofuscinosis 9 (CLN9-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 4 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). The underlying genetic cause of CLN9-NCLis unknown but it appears to be inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.  >> 翻訳 (Google)

4123
(4.0%)

combined oxidative phosphorylation deficiency 28
----
混合性酸化的リン酸化欠乏症28

全般性発達遅滞

常染色体劣性遺伝

Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SLC25A26 gene.  >> 翻訳 (Google)

4123
(4.0%)

hereditary motor and sensory neuropathy, Okinawa type
----
遺伝性運動感覚ニューロパチー, 沖縄型

感覚ニューロパチー

常染色体優性遺伝

Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic.  >> 翻訳 (Google)

4123
(4.0%)

autosomal recessive spinocerebellar ataxia 15
----
脊髄小脳失調, 常染色体劣性15

眼振

常染色体劣性遺伝

Any autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome in which the cause of the disease is a mutation in the RUBCN gene.  >> 翻訳 (Google)

4123
(4.0%)

ataxia-telangiectasia-like disorder 1
----
運動失調-毛細血管拡張症様疾患1

測定過少性サッケード (断続性運動)

常染色体劣性遺伝

Any ataxia-telangiectasia-like disorder in which the cause of the disease is a mutation in the MRE11 gene.  >> 翻訳 (Google)

4123
(4.0%)

isolated microphthalmia 5
----
小眼球症, 単独5

色素性網膜炎

常染色体劣性遺伝

Any isolated microphthalmia in which the cause of the disease is a mutation in the MFRP gene.  >> 翻訳 (Google)

4123
(4.0%)

mitochondrial complex 1 deficiency, nuclear type 28
----
ミトコンドリア複合体 I 欠損症, 核型28

難聴

常染色体劣性遺伝

4123
(4.0%)

3-methylcrotonyl-CoA carboxylase 1 deficiency
----
3-Methylcrotonyl-CoA-carboxylase 1 欠乏症

知的障害

常染色体劣性遺伝 Heterogeneous

Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC1 gene.  >> 翻訳 (Google)

4123
(4.0%)

developmental and epileptic encephalopathy, 50
----
てんかん性脳症, 早期乳児期, 50

全般性発達遅滞

常染色体劣性遺伝

4123
(4.0%)

microphthalmia, isolated, with coloboma 9
----
小眼球, 単独, コロボーマ性9

小角膜

常染色体劣性遺伝

Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the TENM3 gene.  >> 翻訳 (Google)

4123
(4.0%)

X-linked diffuse leiomyomatosis-Alport syndrome
----
平滑筋腫症, びまん性-アルポート症候群

蛋白尿

X連鎖遺伝

The association of X-linked Alport syndrome with leiomyomatosis of the esophagus, tracheobronchial tree or female genitals has been reported in more than 30 families.  >> 翻訳 (Google)

4123
(4.0%)

spasticity-ataxia-gait anomalies syndrome
----
痙性, 小児期発症-高グリシン血症

斜視

常染色体劣性遺伝

4123
(4.0%)

leukodystrophy, hypomyelinating, 16
----
白質ジストロフィー, ミエリン形成不全性, 16

眼振

常染色体優性遺伝

4123
(4.0%)

frontotemporal dementia and/or amyotrophic lateral sclerosis 3
----
前頭側頭葉認知症 +/- 筋萎縮性側索硬化症3

脱抑制

常染色体優性遺伝

An amyotrophic lateral sclerosis that has material basis in mutation in the SQSTM1 gene on chromosome 5q35.  >> 翻訳 (Google)

4123
(4.0%)

spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
----
痙性運動失調 8, 常染色体劣性-ミエリン低形成性ジストロフィー

測定過少性サッケード (断続性運動)

常染色体劣性遺伝

4123
(4.0%)

familial hemophagocytic lymphohistiocytosis 5
----
血球貪食性リンパ組織球症, 家族性, 5 (HPLH5)

肝脾腫

常染色体劣性遺伝

Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STXBP2 gene.  >> 翻訳 (Google)

4123
(4.0%)

pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
----
肺線維症 +/- 骨髄不全, テロメア関連, 1

肝硬変

常染色体優性遺伝

Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the TERT gene.  >> 翻訳 (Google)

4123
(4.0%)

diabetes insipidus, nephrogenic, autosomal
----
尿崩症, 腎型, 常染色体優性

巨大膀胱

常染色体優性遺伝 常染色体劣性遺伝 Heterogeneous

4123
(4.0%)

cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
----
認知症, 遺伝性多発性梗塞型

遺尿

常染色体優性遺伝

A CADASIL characterized by migraine, strokes, and white matter lesions that has material basis in heterozygous mutation in the NOTCH3 gene on chromosome 19p13.  >> 翻訳 (Google)

4123
(4.0%)

neuronal ceroid lipofuscinosis 13
----
セロイドリポフスシン症, 神経性, 13

情動不安定

常染色体劣性遺伝

Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CTSF gene.  >> 翻訳 (Google)

4123
(4.0%)

autoimmune lymphoproliferative syndrome type 4
----
RAS-連関自己免疫性白血球増殖性疾患

脾腫

常染色体優性遺伝 体細胞突然変

RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia.  >> 翻訳 (Google)

4123
(4.0%)

action myoclonus-renal failure syndrome
----
てんかん, 進行性ミオクローヌス4 +/- 腎不全

腎不全

常染色体劣性遺伝

Action myoclonus-renal failure syndrome (AMRF) is a rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms.  >> 翻訳 (Google)

4123
(4.0%)

basal ganglia calcification, idiopathic, 7, autosomal recessive
----
基底核石灰化症, 本態性, 7, 常染色体劣性

測定過少性サッケード (断続性運動)

常染色体劣性遺伝

4123
(4.0%)

lymphoproliferative syndrome 2
----
リンパ増殖症候群2

腹水

常染色体劣性遺伝

Any lymphoproliferative syndrome in which the cause of the disease is a mutation in the CD27 gene.  >> 翻訳 (Google)

4123
(4.0%)

Bartter disease type 3
----
Bartter 症候群 3型

多尿

常染色体劣性遺伝

Classic Bartter syndrome is a type of Bartter syndrome, characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II.  >> 翻訳 (Google)

4123
(4.0%)

Omenn syndrome
----
Omenn 症候群

胸腺低形成

常染色体劣性遺伝

Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID).  >> 翻訳 (Google)

4123
(4.0%)

paragangliomas 1

伝音難聴

常染色体優性遺伝

Any paraganglioma in which the cause of the disease is a mutation in the SDHD gene.  >> 翻訳 (Google)

4123
(4.0%)

Joubert syndrome 5
----
Joubert 症候群 5 (JBTS5)

ネフロン癆

常染色体劣性遺伝

Any Joubert syndrome in which the cause of the disease is a mutation in the CEP290 gene.  >> 翻訳 (Google)

4123
(4.0%)

Joubert syndrome 6
----
Joubert 症候群 6

ネフロン癆

常染色体劣性遺伝 Heterogeneous

Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM67 gene.  >> 翻訳 (Google)