900
(39.9%)

congenital disorder of glycosylation with defective fucosylation 1
----
先天性グリコシル化障害, フコシル化障害を伴う

低血糖 多毛 好中球減少症 食餌摂取障害

常染色体劣性遺伝

902
(39.4%)

Aicardi-Goutieres syndrome 5
----
Aicardi-Goutieres 症候群 5

乾いた皮膚 小頭 血小板減少 食餌摂取障害 in infancy

常染色体劣性遺伝

Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the SAMHD1 gene.  >> 翻訳 (Google)

902
(39.4%)

MPDU1-CDG
----
先天性グリコシル化異常症 If 型 (CDG1F)

乾いた皮膚 凝固カスケードの異常 小頭 食餌摂取障害

常染色体劣性遺伝

The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterised by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies.  >> 翻訳 (Google)

902
(39.4%)

Down syndrome
----
ダウン症候群

巨舌 手掌横線 鎖肛 骨髄増殖性疾患

孤発性

Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.  >> 翻訳 (Google)

902
(39.4%)

Cohen syndrome
----
Cohen 症候群

好中球減少症 手掌横線 開口 食餌摂取障害 in infancy

常染色体劣性遺伝

Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity.  >> 翻訳 (Google)

906
(39.4%)

autosomal recessive congenital ichthyosis 4A
----
魚鱗癬, 先天性, 常染色体劣性4A

外反(眼瞼) 掌蹠角皮症 腹部の異常

常染色体劣性遺伝

Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ABCA12 gene.  >> 翻訳 (Google)

906
(39.4%)

Acrootoocular syndrome
----
偽性乳頭浮腫-両眼開離-瞼裂狭小-手奇形

多数の母斑 狭い口蓋 腹部の異常

常染色体劣性遺伝

Acro-oto-ocular syndrome is a very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies.  >> 翻訳 (Google)

908
(39.0%)

sulfhemoglobinemia, congenital
----
硫黄ヘモグロビン血症, 先天性

チアノーゼ 血液および血液痙性組織の異常

常染色体優性遺伝

909
(39.0%)

congenital diarrhea 6
----
下痢症6

ビタミンB12欠乏症 下痢

常染色体優性遺伝

Any congenital diarrhea in which the cause of the disease is a mutation in the GUCY2C gene.  >> 翻訳 (Google)

909
(39.0%)

maternal riboflavin deficiency
----
リボフラビン欠乏症

ビタミンB2欠乏症 代謝性アシドーシス 吸啜不全

常染色体優性遺伝

909
(39.0%)

methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
----
Methylmalonyl-CoA epimerase 欠損症

メチルマロン酸血症 成長障害 (成長不全) 胃食道逆流

常染色体劣性遺伝

Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic.  >> 翻訳 (Google)

909
(39.0%)

mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
----
ミトコンドリアDNA枯渇症候群 5 (脳筋症 +/- メチルマロン酸血症を伴う)

メチルマロン酸血症 感音難聴 食餌摂取障害 in infancy

常染色体劣性遺伝

Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterised by the association of a mitochondrial encephalomyopathy and an aminoacidopathy. It has been described in two brothers presenting with developmental delay, neurological signs, deafness, exercise intolerance, lactic acidosis and elevation of several plasmatic amino acids. Mitochondria morphology was found to be abnormal on muscle biopsy. Transmission is likely to be linked to maternal mitochondrial DNA.  >> 翻訳 (Google)

913
(39.0%)

lung disease, immunodeficiency, and chromosome breakage syndrome;
----
肺疾患-免疫不全-染色体断裂症候群

幅広い大泉門 湿疹 胸腺の異常 電離放射線への感受性の増加

常染色体劣性遺伝

914
(38.9%)

congenital bile acid synthesis defect 6
----
胆汁酸合成障害, 先天性, 6

ビタミンD欠乏症 垂直性核上性注視麻痺 脂肪便

常染色体劣性遺伝

Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ACOX2 gene.  >> 翻訳 (Google)

915
(38.9%)

circumvallate placenta syndrome
----
有郭性胎盤症候群

皮膚の異常 頭蓋内出血 骨格の異常

常染色体劣性遺伝

915
(38.9%)

combined immunodeficiency due to DOCK8 deficiency
----
高 IgE 性反復性感染症候群, 常染色体劣性

クモ膜下出血 好酸球増多症 湿疹

常染色体劣性遺伝

Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE).  >> 翻訳 (Google)

917
(38.9%)

Wiskott-Aldrich syndrome 2
----
Wiskott-Aldrich 症候群 2

ナチュラルキラー細胞活性の減少 湿疹 血小板減少

常染色体劣性遺伝

Any Wiskott-Aldrich syndrome in which the cause of the disease is a mutation in the WIPF1 gene.  >> 翻訳 (Google)

917
(38.9%)

combined immunodeficiency due to moesin deficiency
----
免疫不全50

低ガンマグロブリン血症 反復性尿路感染症 好中球減少症 湿疹

X連鎖劣性遺伝

917
(38.9%)

WHIM syndrome
----
WHIM 症候群

低ガンマグロブリン血症 好中球減少症 疣贅

常染色体優性遺伝

WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome is a congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma).  >> 翻訳 (Google)

920
(38.7%)

Onychotrichodysplasia and neutropenia
----
爪-毛髪異形成-好中球減少

凹爪 好中球減少症 慢性刺激性結膜炎 知的障害, 軽度

常染色体劣性遺伝

920
(38.7%)

Noonan syndrome 2
----
Noonan 症候群 2

カール毛 停留精巣 大動脈縮窄 白血病

常染色体劣性遺伝

920
(38.7%)

vertebral anomalies and variable endocrine and T-cell dysfunction
----
脊椎奇形-多様な内分泌異常-T細胞異常

B 細胞の異常 低い前部毛髪線 口蓋裂 眉間部血管腫

常染色体優性遺伝

923
(38.6%)

Meige disease
----
リンパ管奇形5

リンパ管低形成 口蓋裂 顔面浮腫 黄色爪

常染色体優性遺伝

Meige disease is a frequent form of late-onset, primary lymphedema characterized by lower limb lymphedema typically developing during puberty.  >> 翻訳 (Google)

923
(38.6%)

yellow nail syndrome
----
黄色爪症候群

リンパ性浮腫 リンパ管低形成 成長の遅い爪

常染色体優性遺伝

Yellow nail syndrome (YNS) is a very rare syndromic disorder characterized by the variable triad of characteristic yellow nails, chronic respiratory manifestations, and primary lymphedema.  >> 翻訳 (Google)

923
(38.6%)

Dahlberg-Borer-Newcomer syndrome
----
リンパ浮腫-副甲状腺機能低下症候群

リンパ性浮腫 多毛症 肺リンパ管拡張 腎不全

常染色体劣性遺伝

Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities.  >> 翻訳 (Google)

926
(38.6%)

pulmonary arteriovenous malformation (disease)
----
肺動静脈瘻

チアノーゼ 肺動静脈瘻

常染色体劣性遺伝

Pulmonary arteriovenous malformation (PAVM) describes an anatomic communication between a pulmonary artery and a pulmonary vein leading to a right to left extracardiac shunt that can be asymptomatic or can lead to varying manifestations such as dyspnea, hemoptysis, and neurological symptoms.  >> 翻訳 (Google)

926
(38.6%)

atrioventricular septal defect 3
----
心房心室中隔欠損3

チアノーゼ 肺高血圧 高血圧

常染色体優性遺伝

Any atrioventricular septal defect in which the cause of the disease is a mutation in the GJA1 gene.  >> 翻訳 (Google)

926
(38.6%)

hemangiomatosis, cutaneous, with associated features
----
血管腫症, 皮膚-合併症状

両眼隔離 肢端チアノーゼ 血管腫症

常染色体劣性遺伝

926
(38.6%)

Coffin-Lowry syndrome
----
Coffin-Lowry 症候群 (CLS)

大理石皮膚 肢端チアノーゼ 鼠径ヘルニア

X連鎖優性遺伝 孤発性

Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes.  >> 翻訳 (Google)

930
(38.6%)

leukocyte adhesion deficiency type II
----
先天性グリコシル化異常症 IIc 型 (CDG IIc)

代謝/ホメオスターシスの異常 反復性中耳炎 好中球運動性の減少 富士額

常染色体劣性遺伝

Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit.  >> 翻訳 (Google)

931
(38.5%)

desquamative interstitial pneumonia
----
肺臓炎, 家族性剥脱性間質 (DIP)

チアノーゼ 代謝/ホメオスターシスの異常 反復性上気道感染症

常染色体劣性遺伝

A rare idiopathic interstitial pneumonia characterized by accumulation of macrophages in alveolar spaces and interstitial inflammation. It usually occurs in smokers. Some patients develop progressive interstitial lung fibrosis.  >> 翻訳 (Google)

932
(38.5%)

cardiomyopathy-hypotonia-lactic acidosis syndrome
----
ミトコンドリアリン酸運搬因子欠乏症

チアノーゼ 代謝性アシドーシス 肥大型心筋症

常染色体劣性遺伝

Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterised by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter.  >> 翻訳 (Google)

932
(38.5%)

microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
----
小頭-小脳低形成-心伝導障害症候群

分厚い下口唇唇紅部 徐脈 耐糖能異常 肢端チアノーゼ

常染色体劣性遺伝

Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome is a rare, genetic congenital anomalies/dysmorphic syndrome characterized by growth failure, global developmental delay, profound intellectual disability, autistic behaviors, acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers, campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly, broad forehead, thin eyebrows, upslanting palpebral fissures, large ears with prominent antihelix, prominent nose, long philtrum, thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia, brisk reflexes, dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern.  >> 翻訳 (Google)

934
(38.5%)

hereditary neurocutaneous angioma
----
血管腫, 遺伝性神経皮膚

胃腸出血 血尿 血管腫

常染色体優性遺伝

Hereditary neurocutaneous angioma is characterised by the association of cerebral and cutaneous angiomatous lesions. It has been described in less than 10 families. Clinical manifestations of the cerebral lesions include epilepsy, cerebral haemorrhage, and focal neurological deficit. Transmission is autosomal dominant.  >> 翻訳 (Google)

934
(38.5%)

isovaleric acidemia
----
イソ吉草酸血症 (IVA)

代謝性アシドーシス 嘔吐 小脳出血 血小板減少

常染色体劣性遺伝

Isovaleric acidemia (IVA) is an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase, that has wide clinical variability and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis (brought on by prolonged fasting, an increased intake of protein-rich food or infections) and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients have also been reported.  >> 翻訳 (Google)

934
(38.5%)

severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
----
重症複合免疫不全, B 細胞陰性

T リンパ球減少症 下痢 汎低ガンマグロブリン血症 結膜炎

常染色体劣性遺伝

Severe combined immunodeficiency due to complete RAG1/2 deficiency is a rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia.  >> 翻訳 (Google)

934
(38.5%)

autosomal recessive agammaglobulinemia 1
----
無ガンマグロブリン血症 1

下痢 好中球減少症 無ガンマグロブリン血症 結膜炎

常染色体劣性遺伝

934
(38.5%)

ALG12-CDG
----
先天性グリコシル化異常症 Ig 型 (CDG1G)

低カルシウム血症 動脈管開存症 部分的トロンボプラスチン時間遷延 食餌摂取障害

常染色体劣性遺伝

A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors. Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. The disease is caused by loss of function mutations of the gene ALG12 (22q13.33).  >> 翻訳 (Google)

939
(38.4%)

DDOST-CDG
----
先天性グリコシル化異常症 Ir

I 型 transferrin isoform プロフィール 斜視 肝機能低下

常染色体劣性遺伝

DDOST-CDG is a form of congenital disorders of N-linked glycosylation characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene DDOST (1p36.1).  >> 翻訳 (Google)

939
(38.4%)

STT3A-CDG
----
先天性グリコシル化異常症 Iw

グリコシル化異常 小頭 食餌摂取障害

常染色体劣性遺伝

STT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mutations in the gene STT3A (11q23.3).  >> 翻訳 (Google)

939
(38.4%)

ALG11-CDG
----
先天性グリコシル化障害 Ip 型

I 型 transferrin isoform プロフィール 嘔吐 小頭

常染色体劣性遺伝

A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding. Additional features that may be observed include fat pads anomalies, inverted nipples, and body temperature oscillation. The disease is caused by mutations in the gene ALG11 (13q14.3).  >> 翻訳 (Google)

942
(38.4%)

sporadic porphyria cutanea tarda
----
ポルフィリン症, 遅発性皮膚 I 型

ポルフィリン尿 皮膚高色素 肝線維症 脆い皮膚

常染色体優性遺伝 Heterogeneous

An instance of porphyria cutanea tarda that is acquired during the lifetime of the individual.  >> 翻訳 (Google)

942
(38.4%)

multiple endocrine neoplasia type 1
----
多発性内分泌腫症 I 型

低血糖 甲状腺異常 皮下脂肪腫 膵頭部細胞腺腫

常染色体優性遺伝

Multiple endocrine neoplasia Type 1 (MEN1) is a frequent form of MEN, a rare inherited cancer syndrome, characterized by the development of neuroendocrine tumors of the parathyroid, pancreas, and anterior pituitary gland, and less commonly the adrenal cortical gland, with other non-endocrine tumors in some patients.  >> 翻訳 (Google)

942
(38.4%)

partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
----
部分的リポジストロフィー-先天性白内障-神経変性症候群

インスリン抵抗性 膵炎 顔の異常 顔面皮下脂肪欠乏

常染色体優性遺伝

942
(38.4%)

PPARG-related familial partial lipodystrophy
----
脂肪ジストロフィー, 家族性部分的, 3型 (FPLD3)

インスリン抵抗性糖尿病 多嚢胞性卵巣 目立つ表面静脈 肝硬変

常染色体優性遺伝

942
(38.4%)

Williams syndrome
----
Williams-Beuren 症候群

反復性尿路感染症 早発性毛髪白髪 糖尿病 門脈圧亢進

常染色体優性遺伝

Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)  >> 翻訳 (Google)

947
(38.3%)

gluthathione peroxidase deficiency
----
Glutathione peroxidase 欠乏症

代償性溶血性貧血 新生児高ビリルビン血症

常染色体劣性遺伝

947
(38.3%)

hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
----
ピリミジンヌクレオチダーゼ欠損症による溶血性貧血

ヘモグロビン尿 溶血性貧血

常染色体劣性遺伝

Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency is a rare, hereditary, hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by mild to moderate hemolytic anemia associated with basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Patients present with variable features of jaundice, splenomegaly, hepatomegaly, gallstones, and sometimes require transfusions. Rare cases of mild development delay and learning difficulties are reported.  >> 翻訳 (Google)

947
(38.3%)

anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane
----
貧血, 非球状赤血球性溶血性, 赤血球膜異常を伴う

代謝/ホメオスターシスの異常 非球状赤血球性溶血性貧血

常染色体劣性遺伝

947
(38.3%)

Heinz body anemia
----
Heinz 小体貧血

代謝/ホメオスターシスの異常 非球状赤血球性溶血性貧血

常染色体優性遺伝

947
(38.3%)

glutathione synthetase deficiency without 5-oxoprolinuria
----
溶血性貧血, グルタチオン合成酵素欠損症, 赤血球による

Glyoxalase 欠乏症 溶血性貧血

常染色体劣性遺伝

947
(38.3%)

sideroblastic anemia 2
----
貧血, 先天性鉄芽球性, 2, ピリドキシン不応性

Decreased mean corpuscular volume Hypochromia 血清フェリチン増加

常染色体劣性遺伝 Heterogeneous

947
(38.3%)

Diamond-Blackfan anemia 13
----
Diamond-Blackfan 貧血 13

Elevated red cell adenosine deaminase activity 正球性貧血

常染色体優性遺伝

Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS29 gene.  >> 翻訳 (Google)

947
(38.3%)

gamma-glutamylcysteine synthetase deficiency
----
溶血性貧血, γ-グルタミルシステイン合成酵素欠損症

ポリニューロパチー 代謝/ホメオスターシスの異常 溶血性貧血

常染色体劣性遺伝

Gamma-glutamylcysteine synthetase deficiency is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported.  >> 翻訳 (Google)

947
(38.3%)

familial juvenile hyperuricemic nephropathy type 2
----
高尿酸血症性腎症, 家族性若年性, 2

腎低形成 貧血 高尿酸血症

常染色体優性遺伝

Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS).  >> 翻訳 (Google)

947
(38.3%)

primary CD59 deficiency
----
溶血性貧血, CD59仲介性 +/- 免疫仲介性ポリニューロパチー

ポリニューロパチー 溶血性貧血 発作性夜間ヘモグロビン尿

常染色体劣性遺伝

947
(38.3%)

hyperlysinemia (disease)
----
高リジン血症 I 型

泌尿生殖器異常 貧血 高リジン血症

常染色体劣性遺伝

Hyperlysinaemia is a lysine metabolism disorder characterised by elevated levels of lysine in the cerebrospinal fluid and blood. Variable degrees of saccharopinuria are also present.  >> 翻訳 (Google)

947
(38.3%)

X-linked sideroblastic anemia with ataxia
----
貧血, ジデロブラスト性- 脊髄小脳性運動失調 (ASAT)

代謝/ホメオスターシスの異常 構音障害 鉄芽球性貧血

X連鎖劣性遺伝

X-linked sideroblastic anemia and ataxia (XLSA-A) is a rare syndromic, inherited form of sideroblastic anemia in which the cause of the disease is a mutation in the ABCB7 gene and is characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia.  >> 翻訳 (Google)

947
(38.3%)

aceruloplasminemia
----
無セルロプラスミン血症

斜頚 糖尿病 貧血

常染色体劣性遺伝

Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.  >> 翻訳 (Google)

947
(38.3%)

growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
----
混合性酸化的リン酸化欠乏症18

大球性貧血 血清乳酸増加 視力障害

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 SFXN4 gene.  >> 翻訳 (Google)

947
(38.3%)

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

溶血性貧血 腎不全 運動誘発性ミオグロビン尿

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)

947
(38.3%)

autosomal dominant Kenny-Caffey syndrome
----
Kenny-Caffey 症候群 2 型 (KCS2)

低カルシウム血症 大頭 貧血

常染色体優性遺伝

An autosomal dominant form of Kenny-Caffey Syndrome due to mutation(s) in the FAM111A gene, encoding protein FAM111A. This condition is characterized by transient hypocalcemia, delayed closure of the anterior fontanel, eye anomalies, including microphthalmia, proportionate short stature, and cortical thickening and medullary stenosis of the tubular bones.  >> 翻訳 (Google)

947
(38.3%)

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

血清乳酸増加 視神経杯蒼白 貧血

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)

964
(38.1%)

abnormal neutrophil chemotactic response
----
好中球化学遊走能反応 (NCR)

先天性魚鱗癬型紅皮症 湿疹 白血球の異常

964
(38.1%)

linear and whorled nevoid hypermelanosis
----
類母斑性高色素, 線状および渦状

好酸球増多症 色素沈着性線状

常染色体優性遺伝 孤発性

Linear and whorled nevoid hypermelanosis (LWNH) is a rare skin condition characterized by swirling streaks of hyperpigmented (darkened) skin. The pigmentation follows the lines of Blashko and is mainly located on the trunk and limbs. It is present at birth or appears in the first few weeks of life. It typically progresses for one to two years and then stabilizes. Hyperpigmentation is usually the only symptom but there are isolated reports of other symptoms, involving mostly the central nervous system, musculoskeletal system, and heart. While most cases of LWNH are sporadic, apparent genetic transmission rarely has been described. A few people with LWNH have been diagnosed with chromosomal mosaicism.  >> 翻訳 (Google)

964
(38.1%)

Hermansky-Pudlak syndrome 9
----
Hermansky-Pudlak 症候群9

白血球減少症 皮膚低色素 血小板減少

常染色体劣性遺伝

Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S6 gene.  >> 翻訳 (Google)

967
(38.1%)

Noonan syndrome 4
----
Noonan 症候群 4 (NS4)

Keratosis pilaris 停留精巣 心室中隔欠損 遷出血時間遷延

常染色体優性遺伝

Any Noonan syndrome in which the cause of the disease is a mutation in the SOS1 gene.  >> 翻訳 (Google)

968
(38.0%)

inflammatory bowel disease 28

膿皮症 血便排泄

常染色体劣性遺伝

Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RA gene.  >> 翻訳 (Google)

968
(38.0%)

intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency

Hodgkin リンパ腫 尿道下裂 湿疹 食餌摂取障害

常染色体劣性遺伝

970
(37.8%)

dyskeratosis congenita, autosomal dominant 6
----
先天性角化異常症, 常染色体優性 6

再生不良性貧血 歯の異常 爪ジストロフィー 食道狭窄

常染色体優性遺伝 常染色体劣性遺伝

A dyskeratosis congenita that has material basis in an autosomal dominant mutation of ACD on chromosome 16q22.1.  >> 翻訳 (Google)

970
(37.8%)

intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
----
知的障害-発語遅滞-顔貌異常-T細胞異常

Thin eyebrow 好酸球増多症 狭い口 食餌摂取障害

常染色体優性遺伝

972
(37.6%)

combined inflammatory and immunologic defect
----
混合型炎症および免疫障害

リンパ節の異常 好中球減少症 成長異常 遅延型過敏の減少

972
(37.6%)

short-limb skeletal dysplasia with severe combined immunodeficiency
----
短肢性骨格異形成-重症複合免疫不全

リンパ球減少症 無ガンマグロブリン血症 胸腺低形成 胸郭の異常

常染色体劣性遺伝

Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity.  >> 翻訳 (Google)

972
(37.6%)

reticular dysgenesis
----
細網異形成症

リンパ球減少症 細胞免疫の欠損 胸腺低形成

常染色体劣性遺伝

Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated.  >> 翻訳 (Google)

972
(37.6%)

hyper-IgM syndrome type 3
----
免疫不全, 高IgM性, 3型

IgA欠乏症 リンパ節胚中心の異常 好中球減少症

常染色体劣性遺伝

A form of Hyper IgM syndrome characterized by mutations of the CD40 gene. In this type, Immature B cells cannot receive signal 2 from helper T cells which is necessary to mature into mature B cells.  >> 翻訳 (Google)

972
(37.6%)

lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome
----
免疫不全-性腺異発生-肺線維症

CD4+ T 細胞数の減少 IgA欠乏症 性腺異発生 胸腺の異常

常染色体劣性遺伝

Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterised by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies.  >> 翻訳 (Google)

977
(37.6%)

Parana hard-skin syndrome
----
Parana 堅い皮膚症候群

皮膚の異常 腹部の異常

常染色体劣性遺伝

A rare disorder characterized by rigid, thick skin that covers the entire body and affects movements. The movement of the chest and abdomen is severely restricted. Affected individuals develop respiratory insufficiency which may lead to death.  >> 翻訳 (Google)

978
(37.6%)

immunoglobulin A deficiency 2
----
免疫グロブリンA欠損症 2 (IGAD2)

IgA欠乏症 リンパ球の異常 胃腸管の反復感染症

Any selective IgA deficiency disease in which the cause of the disease is a mutation in the TNFRSF13B gene.  >> 翻訳 (Google)

978
(37.6%)

Pelger-Huet-like anomaly and episodic fever with abdominal pain
----
Pelger-Huet-様奇形-発熱エピソード-腹痛

発熱 腹痛 血液および血液痙性組織の異常

常染色体劣性遺伝

978
(37.6%)

immunodeficiency 18
----
CD3-ε deficiency

Defective T cell proliferation Recurrent gastroenteritis リンパ球減少症

常染色体劣性遺伝

Immunodeficiency-18 is an autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18.  >> 翻訳 (Google)

978
(37.6%)

primary intraosseous venous malformation
----
血管奇形, 原発性骨内

アルカリホスファターゼ上昇 歯肉出血 臍ヘルニア

常染色体劣性遺伝

Primary intraosseous venous malformation is a rare, genetic vascular anomaly characterized by severe blood vessel expansion (most frequently within the craniofacial bones) with painless bone enlargement (usually of mandibule, maxilla and/or orbital, nasal, and frontal bones), typically resulting in facial asymmetry and contour deformation. Midline abnormalities, such as diastasis recti, supraumbilical raphe, and hiatus hernia, are commonly associated. Additional features reported include gingival bleeding, ectopic tooth eruption, exophthalmos, loss of vision, nausea, and vomiting.  >> 翻訳 (Google)

978
(37.6%)

agammaglobulinemia 3, autosomal recessive
----
無ガンマグロブリン血症3

下痢 好中球減少症 無ガンマグロブリン血症

常染色体劣性遺伝

Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79A gene.  >> 翻訳 (Google)

978
(37.6%)

agammaglobulinemia 4, autosomal recessive
----
無ガンマグロブリン血症4, 常染色体劣性

下痢 好中球減少症 無ガンマグロブリン血症

常染色体劣性遺伝

Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the BLNK gene.  >> 翻訳 (Google)

978
(37.6%)

enteropathy, familial, with villous edema and immunoglobulin G2 deficiency
----
腸症, 家族性-絨毛および免疫グロブリン G2 欠損症

嘔吐 好中球減少症 浮腫

常染色体優性遺伝

978
(37.6%)

Wolfram syndrome 2
----
Wolfram 症候群 2 (WFS2)

異常な出血 糖尿病 胃潰瘍

常染色体劣性遺伝

Any Wolfram syndrome in which the cause of the disease is a mutation in the CISD2 gene.  >> 翻訳 (Google)

978
(37.6%)

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

嚥下障害 蛋白尿 血小板減少

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)

978
(37.6%)

3-methylglutaconic aciduria type 8
----
3-メチルグルタコン酸尿症 VIII 型

吸啜不全 好中球減少症 血清乳酸増加

常染色体劣性遺伝

978
(37.6%)

Krabbe disease
----
Krabbe 病

嘔吐 発熱エピソード 自己免疫性血小板減少

常染色体劣性遺伝

Krabbe disease is a lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms.  >> 翻訳 (Google)

978
(37.6%)

immunodeficiency-centromeric instability-facial anomalies syndrome 1
----
免疫不全-動原体不安定性-顔面奇形症候群 1

IgA欠乏症 T リンパ球減少症 下痢

常染色体劣性遺伝

Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the DNMT3B gene.  >> 翻訳 (Google)

978
(37.6%)

3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
----
3-メチルグルコタン酸尿症-難聴-脳症-Leigh 様症候群

低血糖 凝固カスケードの異常 食餌摂取障害

常染色体劣性遺伝

Any 3-methylglutaconic aciduria in which the cause of the disease is a mutation in the SERAC1 gene.  >> 翻訳 (Google)

978
(37.6%)

Bartter disease type 2
----
Bartter 症候群2型, 出生前

嘔吐 腎性塩類喪失 血小板凝集障害

常染色体劣性遺伝 Heterogeneous

Any Bartter syndrome in which the cause of the disease is a mutation in the KCNJ1 gene.  >> 翻訳 (Google)

978
(37.6%)

mosaic variegated aneuploidy syndrome 1
----
まだら異数性モザイク症候群 1

早期染色分体分離 白血病 食餌摂取障害 in infancy

常染色体劣性遺伝

Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the BUB1B gene.  >> 翻訳 (Google)

993
(37.5%)

peripheral motor neuropathy-dysautonomia syndrome
----
運動ニューロパチー, 末梢性-自律神経機能障害

アカラジア チアノーゼ 神経活動電位の振幅減少

常染色体劣性遺伝

Peripheral motor neuropathy-dysautonomia syndrome is characterised by distal, slowly progressive muscular weakness, childhood-onset amyotrophy, autonomic dysfunction characterized by profuse sweating, distal cyanosis related to cold weather, orthostatic hypotension, and esophageal achalasia. It has been described in two sisters. Inheritance appears to be autosomal recessive.  >> 翻訳 (Google)

993
(37.5%)

Chiari malformation type II
----
Arnold-Chiari 奇形

チアノーゼ 嚥下障害 水頭症

多因子性遺伝

Arnold-Chiari malformation type II is a rare, central nervous system malformation characterized by caudal displacement of the cerebellum, pons, medulla and fourth ventricle through the foramen magnum into the spinal canal, and is typically associated with myelomeningocele. Variable other central nervous system abnormalities might be present (partial or complete agenesis of the corpus callosum, a small fourth ventricle, obstructive hydrocephalus, falx and tentorium defects, and polygyria). Symptoms include hypotonia, apnea with cyanosis, dysphagia, opisthotonus, nystagmus, spasticity, ataxia, and occipital headache.  >> 翻訳 (Google)

995
(37.5%)

diabetes mellitus, transient neonatal, 3
----
糖尿病, 一過性新生児, 3

Elevated hemoglobin A1c 高血糖

常染色体優性遺伝

Any transient neonatal diabetes mellitus in which the cause of the disease is a mutation in the KCNJ11 gene.  >> 翻訳 (Google)

996
(37.3%)

cholangiocarcinoma, susceptibility to

胆管細胞癌

996
(37.3%)

cholelithiasis

胆石症

ポリジーン遺伝

The presence of calculi in the gallbladder.  >> 翻訳 (Google)

996
(37.3%)

primary biliary cholangitis 1
----
胆汁性肝硬変, 原発性, 1

胆汁性肝硬変

常染色体優性遺伝

996
(37.3%)

fibrosclerosis, multifocal
----
多巣性線維硬化症

Sclerosing cholangitis 肝の異常 頸部の異常

常染色体劣性遺伝

996
(37.3%)

Meckel syndrome, type 3
----
Meckel 症候群3型

多嚢胞腎異形成 肝線維症 胆管増殖

常染色体劣性遺伝

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