489
(46.4%)

hereditary sclerosing poikiloderma with tendon and pulmonary involvement
----
ポイキロデルマ, 遺伝性線維化を伴う-腱拘縮-ミオパチー-肺線維症

白内障 肝腫大 血清 creatine phosphokinase上昇

常染色体優性遺伝

Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features.  >> 翻訳 (Google)

489
(46.4%)

medium chain acyl-CoA dehydrogenase deficiency
----
アシル-CoA 脱水素酵素, 中鎖型 (ACADM)

代謝性アシドーシス 発作 肝腫大 脂肪肝

常染色体劣性遺伝

Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention.  >> 翻訳 (Google)

489
(46.4%)

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

代謝性アシドーシス 発作 肝腫大

常染色体劣性遺伝

489
(46.4%)

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

感音難聴 肝腫大 高スレオニン尿

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)

489
(46.4%)

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

低血糖 知的障害 肝腫大

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)

489
(46.4%)

mitochondrial complex 1 deficiency, nuclear type 11
----
ミトコンドリア複合体 I 欠損症, 核型11

代謝性アシドーシス 巨大血管性脂肪肝 網膜症 肝腫大

常染色体劣性遺伝

489
(46.4%)

polyglucosan body myopathy 1 with or without immunodeficiency
----
ポリグルコサン小体ミオパチー1

眼瞼下垂 肝腫大 血清 creatine phosphokinase上昇

常染色体劣性遺伝

489
(46.4%)

pyruvate dehydrogenase E3 deficiency
----
Dihydrolipoamide dehydrogenase 欠乏症

代謝性アシドーシス 小頭 肝腫大

常染色体劣性遺伝

Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease.  >> 翻訳 (Google)

489
(46.4%)

D,L-2-hydroxyglutaric aciduria
----
混合性D-2およびL-2-ヒドロキシグルタル酸尿症

L-2-hydroxyglutaric aciduria 小頭 肝腫大

常染色体劣性遺伝

D,L-2-hydroxyglutaric aciduria is a rare inborn error of metabolism characterized by severe neonatal epileptic encephalopathy, episodes of apnea and respiratory distress, severe global developmental delay or absent psychomotor development, severe muscular hypotonia or absent voluntary movements, feeding difficulties and failure to thrive, absence of visual contact, abnormal brain morphology (including cerebral atrophy, ventriculomegaly and hypoplasia or dysplasia of the corpus callosum), mild dysmorphic features (frontal bossing, hypertelorism, downslanting palpebral fissures, flat nasal bridge), elevated CSF and plasma lactate and urinary Krebs cycle metabolites.  >> 翻訳 (Google)

489
(46.4%)

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 肝腫大 脂肪肝 非ケトン性低血糖

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)

489
(46.4%)

glycogen storage disease due to glycogen branching enzyme deficiency
----
グリコーゲン蓄積症 IV 型

浮腫 肝硬変 肝脾腫

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.  >> 翻訳 (Google)

489
(46.4%)

trichohepatoenteric syndrome 2
----
毛髪肝腸症候群2

Decreased serum iron 両眼隔離 肝硬変 肝腫大

常染色体劣性遺伝

Any tricho-hepato-enteric syndrome in which the cause of the disease is a mutation in the SKIV2L gene.  >> 翻訳 (Google)

489
(46.4%)

mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
----
ミトコンドリア複合体V (ATP synthase)

停留精巣 肝腫大 高アンモニア血症

常染色体劣性遺伝

Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATPAF2 gene.  >> 翻訳 (Google)

489
(46.4%)

combined oxidative phosphorylation defect type 4
----
混合性酸化的リン酸化欠乏症4

代謝性アシドーシス 小頭 肝腫大

常染色体劣性遺伝

Combined oxidative phosphorylation defect type 4 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by a neonatal onset of severe metabolic acidosis and respiratory distress, persistent lactic acidosis with episodes of metabolic crises, developmental regression, microcephaly, abnormal gaze fixation and pursuit, axial hypotonia with limb spasticity and reduced spontaneous movements. Neuroimaging studies reveal polymicrogyria, white matter abnormalities and multiple cystic brain lesions, including basal ganglia, and cerebral atrophy. Decreased activity of complex I and IV have been determined in muscle biopsy.  >> 翻訳 (Google)

489
(46.4%)

glycogen storage disease III
----
グリコーゲン蓄積症 III 型

低血糖 肝線維症 肝腫大 薄い上口唇唇紅部

常染色体劣性遺伝

Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy.  >> 翻訳 (Google)

489
(46.4%)

peroxisome biogenesis disorder 1B
----
ペルオキシソーム生合成異常症1B

肝硬変 肝腫大 腎嚢胞 高蓚酸尿

常染色体劣性遺伝

489
(46.4%)

mitochondrial pyruvate carrier deficiency
----
ミトコンドリアピルビン酸担送体欠乏症

低血糖 肝腫大 薄い上口唇唇紅部

常染色体劣性遺伝

An autosomal recessive metabolic disorder characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation.  >> 翻訳 (Google)

489
(46.4%)

glutaryl-CoA dehydrogenase deficiency
----
グルタル酸血症 I

代謝性アシドーシス 大頭 肝腫大

常染色体劣性遺伝

Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder.  >> 翻訳 (Google)

489
(46.4%)

combined oxidative phosphorylation deficiency 33
----
混合性酸化的リン酸化欠乏症33

ネフローゼ症候群 代謝性アシドーシス 肝腫大

常染色体劣性遺伝

489
(46.4%)

severe neurodegenerative syndrome with lipodystrophy
----
脳症, 進行性 +/- リポジストロフィー

発語および言語発達遅延 肝腫大 高トリグリセリド血症

常染色体劣性遺伝

489
(46.4%)

T-B+ severe combined immunodeficiency due to gamma chain deficiency
----
重症複合免疫不全症, X連鎖性 (SCIDX1)

無ガンマグロブリン血症 肝腫大 胸腺低形成

X連鎖劣性遺伝

Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.  >> 翻訳 (Google)

489
(46.4%)

carnitine palmitoyl transferase 1A deficiency
----
カルニチン パルミチルトランスフェラーゼ I 欠損症

発作 肝腫大 脂肪肝 腎尿細管アシドーシス

常染色体劣性遺伝

Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure.  >> 翻訳 (Google)

489
(46.4%)

citrullinemia type I
----
シトルリン血症, 古典的

活性減少アルカローシス 肝硬変 肝腫大 被刺激性

常染色体劣性遺伝

Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type I) and by variable hyperammonemia in the later-onset form (adult-onset citrullinemia type I).  >> 翻訳 (Google)

489
(46.4%)

carnitine-acylcarnitine translocase deficiency
----
Carnitine-acylcarnitine translocase 欠損症

低血糖 肝腫大 被刺激性

常染色体劣性遺伝

Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy.  >> 翻訳 (Google)

489
(46.4%)

Sandhoff disease
----
Sandhoff 病

グリコスフィンゴリピド 代謝の異常 肝脾腫 遺尿

常染色体劣性遺伝

Sandhoff disease is a lysosomal storage disorder from the GM2 gangliosidosis family and is characterised by central nervous system degeneration.  >> 翻訳 (Google)

489
(46.4%)

proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome
----
腎尿細管症-糖尿病-小脳性運動失調, ミトコンドリアDNA重複による

多尿 糖尿病 肝腫大

ミトコンドリア遺伝

Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome is characterised by onset of proximal tubulopathy in the first year of life, followed by progressive development during childhood of skin anomalies (erythrocyanosis and abnormal pigmentation), blindness, osteoporosis, cerebellar ataxia, mitochondrial myopathy, deafness and diabetes mellitus.  >> 翻訳 (Google)

489
(46.4%)

systemic primary carnitine deficiency disease
----
カルニチン欠損症, 全身性原発性 (CDSP)

低血糖 筋緊張低下 肝腫大 脂肪肝

常染色体劣性遺伝

Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma.  >> 翻訳 (Google)

489
(46.4%)

mitochondrial myopathy with reversible cytochrome C oxidase deficiency
----
ミトコンドリアミオパチー, 乳児性, 一過性

巨舌 肝腫大 血清乳酸増加

ミトコンドリア遺伝

489
(46.4%)

MOGS-CDG
----
先天性グリコシル化異常症 IIb (CDG2B)

代謝/ホメオスターシスの異常 肝腫大 高口蓋

常染色体劣性遺伝

MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1).  >> 翻訳 (Google)

489
(46.4%)

peroxisome biogenesis disorder 4B
----
ペルオキシソーム生合成異常症4B

尿管瘤 発熱エピソード 肝腫大

常染色体優性遺伝 常染色体劣性遺伝

489
(46.4%)

argininosuccinic aciduria
----
アルギニノコハク酸尿症

活性減少アルカローシス 肝線維症 肝腫大 被刺激性

常染色体劣性遺伝

Argininosuccinic aciduria (ASA) is a disorder of urea cycle metabolism most commonly characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms (any age outside the newborn period) that manifest with stress or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities. Patients often manifest liver dysfunction.  >> 翻訳 (Google)

489
(46.4%)

multiple mitochondrial dysfunctions syndrome 2
----
多発性ミトコンドリア機能障害症候群2

乳酸性アシドーシス 肝腫大 視力障害

常染色体劣性遺伝

Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the BOLA3 gene.  >> 翻訳 (Google)

489
(46.4%)

neutral lipid storage myopathy
----
中性脂質蓄積病-ミオパチー

感音難聴 糖尿病 肝腫大 脂肪肝

常染色体劣性遺伝

489
(46.4%)

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

肝腫大 脈絡膜網膜萎縮 高アンモニア血症

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)

489
(46.4%)

Beckwith-Wiedemann syndrome
----
Beckwith-Wiedemann 症候群 (BWS)

停留精巣 新生児低血糖 肝腫大

常染色体優性遺伝

Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations.  >> 翻訳 (Google)

489
(46.4%)

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

肝腫大 血清乳酸増加 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)

489
(46.4%)

combined oxidative phosphorylation defect type 11
----
混合性酸化的リン酸化欠乏症11

肝腫大 脂肪肝 腎不全 腎尿細管アシドーシス

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 RMND1 gene.  >> 翻訳 (Google)

489
(46.4%)

Wolcott-Rallison syndrome
----
骨端異形成, 多発性-早期発症糖尿病

インスリン抵抗性糖尿病 肝腫大 腎不全

常染色体劣性遺伝

Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure.  >> 翻訳 (Google)

489
(46.4%)

mucopolysaccharidosis type 4A
----
ムコ多糖症 IVA

尿中硫酸ケラタン排泄 肝腫大 鼠径ヘルニア

常染色体劣性遺伝

A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme galactosamine-6-sulfatase. It is characterized by skeletal and central nervous system deficits.  >> 翻訳 (Google)

489
(46.4%)

mucopolysaccharidosis type 4B
----
ムコ多糖症 IVB

β-ガラクトシダーゼ活性の減少 肝腫大 鼠径ヘルニア

常染色体劣性遺伝

A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme beta galactosidase. It is characterized by skeletal dysplasia and short stature.  >> 翻訳 (Google)

489
(46.4%)

ALG9-CDG
----
先天性グリコシル化異常症 Il 型 (CDG1L)

多嚢胞性腎異形成 浮腫 肝脾腫

常染色体劣性遺伝

A form of congenital disorders of N-linked glycosylation characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis. The disease is caused by loss-of-function mutations in the gene ALG9 (11q23).  >> 翻訳 (Google)

489
(46.4%)

autosomal recessive limb-girdle muscular dystrophy type 2S
----
筋ジストロフィー, 肢帯型, 常染色体劣性18

小頭 肝腫大 脂肪肝 血清 creatine phosphokinase上昇

常染色体劣性遺伝

Autosomal recessive limb-girdle muscular dystrophy type 2S (LGMD2S) is a form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.  >> 翻訳 (Google)

489
(46.4%)

Alstrom syndrome
----
Alstrom 症候群 (ALMS)

インスリン抵抗性糖尿病 肝腫大 脂肪肝 腎不全

常染色体劣性遺伝

AlstrC6m syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM), and progressive hepatic and renal dysfunction.  >> 翻訳 (Google)

489
(46.4%)

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

低血糖 小頭 肝腫大

常染色体劣性遺伝 X連鎖優性遺伝 ミトコンドリア遺伝

489
(46.4%)

glycosylphosphatidylinositol biosynthesis defect 18
----
Glycosylphosphatidylinositol 生合成障害18

アルカリホスファターゼ上昇 肝腫大 鼠径ヘルニア

常染色体劣性遺伝

489
(46.4%)

NGLY1-deficiency
----
先天性脱グリコシル化症

発熱 短頭 肝腫大

常染色体劣性遺伝

A rare autosomal recessive inherited disorder caused by mutations in the NGLY1 gene. It is characterized by developmental delay, hypotonia, abnormal involuntary movements, poor tear production, microcephaly, intractable seizures, abnormal eye movements, and liver abnormalities.  >> 翻訳 (Google)

489
(46.4%)

multiple congenital anomalies-hypotonia-seizures syndrome 2
----
多発先天奇形-筋緊張低下-けいれん症候群2

小陰茎 肝硬変 肝腫大 胎児水腫

X連鎖劣性遺伝

Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGA gene.  >> 翻訳 (Google)

548
(46.3%)

Kasabach-Merritt syndrome
----
血管腫-血小板減少症候群

微小血管症性溶血性貧血 血管腫 高カリウム血症

常染色体優性遺伝

Kasabach-Merritt syndrome (KMS), also known as hemangioma-thrombocytopenia syndrome, is a rare disorder characterized by profound thrombocytopenia, microangiopathic hemolytic anemia, and subsequent consumptive coagulopathy in association with vascular tumors, particularly kaposiform hemangioendothelioma or tufted angioma.  >> 翻訳 (Google)

548
(46.3%)

Norum disease
----
レシチン-コレステロール・アシルトランスフェラーゼ欠損症

泡沫細胞 溶血性貧血 腎不全 蛋白尿

常染色体劣性遺伝

Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme.  >> 翻訳 (Google)

548
(46.3%)

hyperuricemic nephropathy, familial juvenile type 4
----
高尿酸血症性腎症, 家族性若年性, 4

動脈瘤 巣状分節性糸球体硬化症 貧血 高尿酸血症

常染色体優性遺伝

Any familial juvenile hyperuricemic nephropathy in which the cause of the disease is a mutation in the SEC61A1 gene.  >> 翻訳 (Google)

551
(46.0%)

Fanconi anemia complementation group Q
----
Fanconi 貧血, 相補性Q群

小頭 胆管閉鎖 骨髄細胞数増多

常染色体劣性遺伝

Any Fanconi anemia in which the cause of the disease is a mutation in the ERCC4 gene.  >> 翻訳 (Google)

552
(45.8%)

diarrhea 10, protein-losing enteropathy type
----
下痢症10, 蛋白漏出性腸症型

代謝性アシドーシス 腹水 血便排泄

常染色体劣性遺伝

553
(45.6%)

pernicious anemia
----
悪性貧血

ビタミンB12吸収不全 巨赤芽球性貧血

常染色体優性遺伝

Megaloblastic anemia caused by vitamin B-12 deficiency due to impaired absorption. The impaired absorption of vitamin B-12 is secondary to atrophic gastritis and loss of gastric parietal cells.  >> 翻訳 (Google)

553
(45.6%)

Imerslund-Grasbeck syndrome type 1
----
巨赤芽球性貧血 1 (MGA1)

ビタミンB12欠乏症 巨赤芽球性貧血 蛋白尿

常染色体劣性遺伝

An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but sometimes occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Some patients may present later in childhood with neurologic abnormalities related to B12 deficiency, such as sensorimotor neuropathy and/or cognitive disturbances.  >> 翻訳 (Google)

553
(45.6%)

methylcobalamin deficiency type cblE
----
ホモシスチン尿-巨赤芽球性貧血, cblE相補型)

メチルコバラミンの減少 巨赤芽球性貧血 盲

常染色体劣性遺伝

An autosomal recessive condition caused by mutation(s) in the MTRR gene, encoding methionine synthase reductase. It is characterized by homocystinuria and megaloblastic anemia.  >> 翻訳 (Google)

553
(45.6%)

methylmalonic aciduria and homocystinuria type cblD
----
メチルマロン酸尿-ホモシスチン尿, cblD 型

メチルマロン酸血症 巨赤芽球性貧血 眼振

常染色体劣性遺伝

A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations.  >> 翻訳 (Google)

557
(45.6%)

Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
----
Diamond-Blackfan 貧血 14-下顎顔面異骨症

大球性貧血 小顎 疎な睫毛

X連鎖劣性遺伝

Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the TSR2 gene.  >> 翻訳 (Google)

558
(45.6%)

southeast Asian ovalocytosis
----
卵形赤血球症, 東南アジア型

楕円赤血球症 溶血性貧血

常染色体優性遺伝

Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones.  >> 翻訳 (Google)

558
(45.6%)

Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin
----
異赤血球造血, 先天性-核内クロマチン橋-電顕的正常赤芽球ヘテロクロマチン

不適切な産生貧血 異型赤血球増加症

常染色体優性遺伝

558
(45.6%)

ovalocytosis, hereditary hemolytic, with defective erythropoiesis
----
卵形赤血球症, 遺伝性溶血性-造血機能障害

楕円赤血球症 溶血性貧血

常染色体優性遺伝

558
(45.6%)

hemolytic poikilocytic anemia due to reduced ankyrin binding sites
----
溶血性奇形赤血球性貧血, アンキリン欠乏部位減少による

楕円赤血球症 非球状赤血球性溶血性貧血

常染色体優性遺伝

562
(45.6%)

Diamond-Blackfan anemia 9
----
Diamond-Blackfan 貧血 9 (DBA9)

ビタミンD欠乏症 翼状頚 貧血

常染色体優性遺伝

Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS10 gene.  >> 翻訳 (Google)

563
(45.6%)

glycoprotein storage disease
----
糖蛋白蓄積病

脾腫

常染色体劣性遺伝

563
(45.6%)

axial spondylometaphyseal dysplasia
----
脊椎骨幹端異形成, 軸性

脾腫 色素性網膜炎

常染色体劣性遺伝

Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term axial means towards the center of the body. Sphondylos is a Greek term meaning vertebra. Metaphyseal dysplasia refers to abnormalities at the ends of long bones.Axial spondylometaphyseal dysplasia primarily affects the bones of the chest, pelvis, spine,upper arms and upper legs, and results in shortened stature.For reasons not well understood,this rare skeletal dysplasia is also associated withearly and progressivevision loss. The underlying genetic cause of axial spondylometaphyseal dysplasia is currently unknown.It is thought to be inherited in an autosomal recessive fashion.  >> 翻訳 (Google)

565
(45.5%)

DiGeorge syndrome
----
DiGeorge 症候群 (DGS)

低カルシウム血症 胆石症 胸腺の異常 鼠径ヘルニア

常染色体優性遺伝

A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly.  >> 翻訳 (Google)

566
(45.3%)

campomelia, Cumming type
----
湾曲肢異形成(CMD1; CMPD1)

リンパ性浮腫 多嚢胞性肝疾患 多嚢胞性腎異形成 多脾症

常染色体劣性遺伝

Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies.  >> 翻訳 (Google)

567
(45.3%)

scleroderma, familial progressive
----
強皮症, 家族性進行性

染色体安定性の異常 毛細血管拡張 腹部の異常

常染色体優性遺伝

567
(45.3%)

XFE progeroid syndrome
----
FE プロゲリア様症候群

早老外観 腎不全 腹水 蛋白尿

常染色体劣性遺伝

A syndrome characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly. Additional features include sun-sensitivity from birth, learning disabilities, hearing loss, and visual impairment. It has material basis in homozygous mutation in the ERCC4 gene on chromosome 16p13.  >> 翻訳 (Google)

569
(45.2%)

Fryns syndrome
----
Fryns 症候群 (FRNS)

乳糜胸 停留精巣 多脾症 手掌横線

常染色体劣性遺伝

Fryns syndrome (FS) is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia, pulmonary hypoplasia, and distal limb hypoplasia, in addition to variable expression of additional malformations.  >> 翻訳 (Google)

570
(45.0%)

platelet-type bleeding disorder 14
----
出血性疾患, 血小板型, 14

Decreased serum thromboxane B2 出血傾向 鼻出血

常染色体優性遺伝

Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the TBXAS1 gene.  >> 翻訳 (Google)

570
(45.0%)

mastocytosis
----
肥満細胞症, 皮膚

浮腫 皮膚肥満細胞症 蕁麻疹

A clonal myeloproliferative neoplasm characterized by the proliferation and accumulation of neoplastic mast cells in one or multiple organs or organ systems. It is a heterogeneous group of neoplasms, ranging from cutaneous proliferations which may regress spontaneously, to aggressive neoplasms associated with organ failure and short survival.  >> 翻訳 (Google)

570
(45.0%)

immunodeficiency, common variable, 6
----
分類不能型免疫不全6

低ガンマグロブリン血症 紫斑

常染色体劣性遺伝

Any common variable immunodeficiency in which the cause of the disease is a mutation in the CD81 gene.  >> 翻訳 (Google)

570
(45.0%)

IgA nephropathy, susceptibility to, 1
----
IgA 腎症への感受性1

紫斑 蛋白尿

常染色体優性遺伝 Heterogeneous

570
(45.0%)

thrombocytopenia 1
----
血小板減少症1

IgE 値増加 点状出血 鼻出血

X連鎖劣性遺伝

570
(45.0%)

Behcet disease
----
ベーチェット症候群

Decreased level of D-mannose in urine 紅斑 表在性血栓性静脈炎

常染色体劣性遺伝

Bechet disease (BD) is a chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.  >> 翻訳 (Google)

570
(45.0%)

pigmented nodular adrenocortical disease, primary, 4
----
色素性結節性副腎皮質疾患, 原発性, 4

出血傾向 糖尿病

常染色体優性遺伝

Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PRKACA gene.  >> 翻訳 (Google)

570
(45.0%)

Hennekam-Beemer syndrome
----
皮膚肥満細胞症-伝音性難聴-小耳

代謝/ホメオスターシスの異常 描画症性蕁麻疹 皮膚肥満細胞症

常染色体劣性遺伝

Hennekam-Beemer syndrome is characterized by the association of skin mastocytosis (appearing as diffuse pigmentation), short stature, microcephaly, conductive hearing loss, and dysmorphic features. It has been described in only two (female) cases: one with normal mental development born to consanguineous parents and the other with severe psychomotor retardation born to unrelated parents. The mode of inheritance is most likely autosomal recessive.  >> 翻訳 (Google)

570
(45.0%)

Netherton syndrome
----
Netherton 症候群

Hypereosinophilia IgE 値増加 蕁麻疹

常染色体劣性遺伝

Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations.  >> 翻訳 (Google)

570
(45.0%)

Hyper-IgE recurrent infection syndrome 1
----
高 IgE 性反復性感染症候群 1, 常染色体優性

IgE 値増加 好酸球増多症 紅斑

常染色体優性遺伝

A condition of decreased or absent presence or activity of signal transducer and activator of transcription 3 protein. Deficiency of this protein is associated with hyper-IgE syndrome.  >> 翻訳 (Google)

570
(45.0%)

SLC35A1-CDG
----
先天性グリコシル化異常症 IIf 型 (CDG2F)

皮下出血 蛋白尿 血小板減少

常染色体劣性遺伝

SLC35A1-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage.  >> 翻訳 (Google)

570
(45.0%)

Cushing disease due to pituitary adenoma
----
下垂体腺腫4, ACTH 分泌性

出血傾向 浮腫

常染色体優性遺伝 常染色体劣性遺伝

Cushing's syndrome due to abnormally high secretion of adrenocorticotropic hormone (ACTH) from the pituitary gland.  >> 翻訳 (Google)

570
(45.0%)

deafness-intellectual disability, Martin-Probst type syndrome
----
精神遅滞, X連鎖性, 症候群性, Martin-Probst 型

毛細血管拡張 汎血球減少症 蛋白尿

X連鎖劣性遺伝

Deafness-intellectual disability syndrome, Martin-Probst type is characterised by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localised to the q1-21 region of the X chromosome.  >> 翻訳 (Google)

570
(45.0%)

RIN2 syndrome
----
MACS 症候群

出血傾向 眼瞼浮腫

常染色体劣性遺伝

RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported.  >> 翻訳 (Google)

570
(45.0%)

Bloom syndrome
----
Bloom 症候群

IgA欠乏症 白血病 皮膚光線過敏症 蝶形顔面中部分布の顔面毛細血管拡張

常染色体劣性遺伝

Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer.  >> 翻訳 (Google)

570
(45.0%)

Bannayan-Riley-Ruvalcaba syndrome

低血糖 血便排泄 被角血管腫

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.  >> 翻訳 (Google)

570
(45.0%)

Ehlers-Danlos syndrome, dermatosparaxis type
----
Ehlers-Danlos 症候群, 皮膚脆弱型

出血傾向 歯肉出血 眼瞼皮膚弛緩症

常染色体劣性遺伝

A form of Ehlers-Danlos syndrome (EDS) characterized by extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and, sometimes, major complications due to visceral and vascular fragility.  >> 翻訳 (Google)

570
(45.0%)

Ehlers-Danlos syndrome, kyphoscoliotic type 1
----
Ehlers-Danlos 症候群, 後側弯型, 1

代謝/ホメオスターシスの異常 出血傾向

常染色体劣性遺伝

Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility.  >> 翻訳 (Google)

570
(45.0%)

Cowden syndrome 1
----
Cowden 症候群1

リンパ球減少症 低ガンマグロブリン血症 皮下脂肪腫 血管の異常

常染色体優性遺伝

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

589
(44.8%)

jaundice, familial obstructive, of infancy
----
黄疸, 家族性閉塞性, 乳児

新生児高ビリルビン血症 黄疸

X連鎖劣性遺伝

589
(44.8%)

hyperbilirubinemia, conjugated, type 3
----
高ビリルビン血症, 抱合性, III 型

抱合型高ビリルビン血症 黄疸

常染色体劣性遺伝

589
(44.8%)

Dubin-Johnson syndrome
----
Dubin-Johnson 症候群

抱合型高ビリルビン血症 黄疸

常染色体劣性遺伝

Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells.  >> 翻訳 (Google)

589
(44.8%)

Crigler-Najjar syndrome type 2
----
Crigler-Najjar 症候群, II 型

不抱合型高ビリルビン血症 黄疸

常染色体劣性遺伝

Type 2 Crigler-Najjar syndrome (CNS2) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). CNS2 is a milder form of CNS than CNS1.  >> 翻訳 (Google)

589
(44.8%)

Gilbert syndrome
----
Gilbert 症候群

脱水 黄疸

常染色体劣性遺伝

An autosomal recessive inherited disorder characterized by unconjugated hyperbilirubinemia, resulting in harmless intermittent jaundice.  >> 翻訳 (Google)

589
(44.8%)

Rotor syndrome
----
高ビリルビン血症, Rotor 型

抱合型高ビリルビン血症 骨格の異常 黄疸

Digenic遺伝

Rotor syndrome (RT) is a benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology.  >> 翻訳 (Google)

589
(44.8%)

transient familial neonatal hyperbilirubinemia
----
高ビリルビン血症, 一過性家族性新生児

新生児不抱合型高ビリルビン血症 黄疸

常染色体劣性遺伝

589
(44.8%)

Crigler-Najjar syndrome type 1
----
Crigler-Najjar 症候群 I 型

不抱合型高ビリルビン血症 黄疸

常染色体劣性遺伝

Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS, a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT).  >> 翻訳 (Google)

589
(44.8%)

galactokinase deficiency
----
ガラクトキナーゼ欠損症

ガラクトース尿 白内障 遷延性新生児黄疸

常染色体劣性遺伝

Galactokinase deficiency is a rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice.  >> 翻訳 (Google)

589
(44.8%)

cholestasis, intrahepatic, of pregnancy, 1
----
肝内胆汁うっ滞, 妊娠時, 1

妊娠中の血清胆汁酸濃度の増加 黄疸

常染色体優性遺伝

589
(44.8%)

cholestasis, intrahepatic, of pregnancy 3
----
胆汁うっ滞, 肝内, 妊娠時3

妊娠中の血清胆汁酸濃度の増加 黄疸

常染色体優性遺伝 常染色体劣性遺伝

589
(44.8%)

cirrhosis, familial
----
肝硬変, 家族性

発熱 高血圧 黄疸

常染色体優性遺伝 常染色体劣性遺伝

Cirrhosis in which no causative agent can be identified.  >> 翻訳 (Google)