589
(44.8%)

low phospholipid associated cholelithiasis
----
胆嚢疾患1

アルカリホスファターゼ上昇 黄疸

常染色体優性遺伝 常染色体劣性遺伝

Low phospholipid associated cholelithiasis is a rare genetic hepatic disease characterized by cholesterol gallstones and intrahepatic stones developing before the age of 40 years.  >> 翻訳 (Google)

589
(44.8%)

Edinburgh malformation syndrome
----
エジンバラ奇形症候群

新生児高ビリルビン血症 水頭症 黄疸

常染色体優性遺伝

Edinburgh malformation syndrome is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by consistently abnormal facial appearance, true or apparent hydrocephalus, motor and cognitive developmental delay, failure to thrive (feeding difficulties, vomiting, chest infections) and death within a few months of birth. Carp mouth, hairiness of the forehead, neonatal hyperbilirubinemia and advanced bone age may also be associated. There have been no further descriptions in the literature since 1991.  >> 翻訳 (Google)

589
(44.8%)

arteritis, familial granulomatous, with juvenile polyarthritis
----
屈指症-関節炎

発熱 高血圧 黄疸

常染色体優性遺伝

589
(44.8%)

biliary malformation with renal tubular insufficiency
----
胆管奇形-腎細尿管機能不全

蛋白尿 黄疸

常染色体優性遺伝 X連鎖劣性遺伝

589
(44.8%)

arthrogryposis, renal dysfunction, and cholestasis 2
----
関節拘縮-腎機能障害-胆汁うっ滞2

代謝性アシドーシス 腎症 黄疸

常染色体劣性遺伝

Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VIPAS39 gene.  >> 翻訳 (Google)

589
(44.8%)

microcephaly, epilepsy, and diabetes syndrome 1
----
小頭-てんかん-糖尿病症候群

停留精巣 糖尿病 黄疸

常染色体劣性遺伝

589
(44.8%)

asphyxiating thoracic dystrophy 1
----
短肋骨性胸郭異形成 1+/- 多指症

腎不全 蛋白尿 黄疸

常染色体劣性遺伝

An asphyxiating thoracic dystrophy associated with variation in the region 15q13.  >> 翻訳 (Google)

589
(44.8%)

Alagille syndrome due to a JAG1 point mutation
----
Alagille 症候群 1 (AGS)

肝硬変 腎尿細管アシドーシス 膀胱尿管逆流 遷延性新生児黄疸

常染色体優性遺伝

609
(44.8%)

Perlman syndrome
----
Perlman 症候群

停留精巣 内臓肥大 浮腫 膵頭部細胞過形成

常染色体劣性遺伝

Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.  >> 翻訳 (Google)

610
(44.8%)

telangiectasia, hereditary hemorrhagic, type 5
----
毛細血管拡張症, 遺伝性出血性, 5型

毛細血管拡張 自然反復性鼻出血 門脈圧亢進

常染色体優性遺伝

Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the GDF2 gene.  >> 翻訳 (Google)

610
(44.8%)

pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2
----
肺線維症 +/- 骨髄不全, テロメア関連, 2

早発性毛髪白髪 白血病 肝硬変

常染色体優性遺伝

610
(44.8%)

cerebroretinal microangiopathy with calcifications and cysts 2
----
大脳網膜微小血管症-石灰化-嚢胞2

早発性毛髪白髪 汎血球減少症 門脈圧亢進 骨減少症

常染色体劣性遺伝

Any Coats plus syndrome in which the cause of the disease is a mutation in the STN1 gene.  >> 翻訳 (Google)

610
(44.8%)

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

早発性毛髪白髪 白血病 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)

610
(44.8%)

spondyloepimetaphyseal dysplasia, Krakow type
----
脊椎骨端骨幹端異形成, Krakow 型

出血傾向 環状膵 高口蓋

常染色体劣性遺伝

615
(44.7%)

Woronets trait

赤血球有角赤血球症

常染色体優性遺伝

615
(44.7%)

red cell permeability defect
----
赤血球透過性障害

楕円赤血球症

常染色体優性遺伝

615
(44.7%)

Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
----
AMME 複合

楕円赤血球症 知的障害

連続遺伝子症候群

615
(44.7%)

elliptocytosis 2
----
楕円赤血球症2

楕円赤血球症

常染色体優性遺伝 Heterogeneous

Any hereditary elliptocytosis in which the cause of the disease is a mutation in the SPTA1 gene.  >> 翻訳 (Google)

619
(44.7%)

platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
----
血小板異常-好酸球増多-免疫仲介性炎症性疾患

リンパ節腫大 大腸の炎症 血小板減少 赤沈値上昇

常染色体劣性遺伝

619
(44.7%)

infantile-onset periodic fever-panniculitis-dermatosis syndrome

リンパ節腫大 下痢 白血球増多症 関節腫脹

常染色体劣性遺伝

621
(44.6%)

STT3B-CDG
----
先天性グリコシル化異常症 Ix

グリコシル化異常 肝機能低下 血小板減少

常染色体劣性遺伝

STT3B-CDG is a form of congenital disorders of N-linked glycosylation characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties. Genital abnormalities (micropenis, hypoplastic scrotum, undescended testes) have also been reported. STT3B-CDG is caused by mutations in the gene STT3B (3p24.1).  >> 翻訳 (Google)

621
(44.6%)

SSR4-CDG
----
先天性グルコシル化異常症 iy 型

I 型 transferrin isoform プロフィール 凝固の異常 食餌摂取障害

X連鎖劣性遺伝

(Xq28).  >> 翻訳 (Google)

623
(44.4%)

HELLP syndrome

肝トランスアミナーゼ上昇 蛋白尿 血小板減少

常染色体優性遺伝

HELLP syndrome is a life-threatening condition that can potentially complicate pregnancy. It is named for 3 features of the condition: H emolysis, E levated L iver enzyme levels, and L ow P latelet levels. It typically occurs in the last 3 months of pregnancy (the third trimester) but can also start soon after delivery. A wide range of non-specific symptoms may be present in women with HELLP syndrome. Symptoms may include fatigue; malaise; fluid retention and excess weight gain; headache; nausea and vomiting; pain in the upper right or middle of the abdomen; blurry vision; and rarely, nosebleed or seizures. The cause of HELLP syndrome is not known, but certain risk factors have been associated with the condition. It is most common in women with preeclampsia or eclampsia. If not diagnosed and treated quickly, HELLP syndrome can lead to serious complications for the mother and baby.The main treatment is to deliver the baby as soon as possible, even if premature. Treatment may also includemedications needed for the mother or baby, and blood transfusion for severe bleeding problems.  >> 翻訳 (Google)

623
(44.4%)

chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome
----
コンドロイチン-6-硫酸尿-細胞免疫異常-ネフローゼ症候群

T 細胞の異常 巨大結節性肝硬変 蛋白尿

常染色体劣性遺伝

623
(44.4%)

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

低血糖 小血管脂肪肝 血小板減少

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)

623
(44.4%)

immunoskeletal dysplasia with neurodevelopmental abnormalities
----
免疫骨格異形成-神経発達異常症

低ガンマグロブリン血症 好酸球増多症 肝膿瘍

常染色体劣性遺伝

623
(44.4%)

mitochondrial DNA depletion syndrome 13
----
ミトコンドリア DNA 欠乏症候群 13 (MNGIE 型)

好中球減少症 肝トランスアミナーゼ上昇 腎尿細管アシドーシス

常染色体劣性遺伝

Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the FBXL4 gene.  >> 翻訳 (Google)

628
(44.3%)

congenital disorder of glycosylation, type IIq
----
先天性グリコシル化異常症 IIq 型

グリコシル化異常 発作 肝トランスアミナーゼ上昇

常染色体劣性遺伝

628
(44.3%)

TMEM199-CDG
----
先天性グリコシル化異常症 Ip

タンパクのN連結グリコシル化異常 全般性発達遅滞 脂肪肝

常染色体劣性遺伝

628
(44.3%)

DPM3-CDG
----
筋ジストロフィー-ジストログリカン異常症 (肢帯型), C型, 15

I 型 transferrin isoform プロフィール 筋虚弱 肝トランスアミナーゼ上昇

常染色体劣性遺伝

DPM3-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy.  >> 翻訳 (Google)

628
(44.3%)

congenital muscular dystrophy with intellectual disability and severe epilepsy
----
先天性グリコシル化異常症 Iu

肝トランスアミナーゼ上昇 血清トランスフェリンの等電点電気泳動異常 高口蓋

常染色体劣性遺伝

632
(44.2%)

pancytopenia and occlusive vascular disease
----
汎血球減少-閉塞性血管病

末梢動脈疾患 血小板減少 貧血

常染色体優性遺伝

632
(44.2%)

Diamond-Blackfan anemia 6
----
Diamond-Blackfan 貧血 6 (DBA6)

Fallot 四徴症 口蓋裂 大球性貧血

常染色体優性遺伝

Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL5 gene.  >> 翻訳 (Google)

632
(44.2%)

Diamond-Blackfan anemia 10
----
Diamond-Blackfan 貧血 10

動脈管開存症 異所性腎 網状赤血球減少症 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 RPS26 gene.  >> 翻訳 (Google)

632
(44.2%)

alpha thalassemia-intellectual disability syndrome type 1
----
αサラセミア/精神遅滞症候群, 16番染色体関連)

低色素性小球性貧血 停留精巣 動脈管開存症

常染色体優性遺伝 連続遺伝子症候群

Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.  >> 翻訳 (Google)

636
(44.1%)

autoimmune hemolytic anemia
----
貧血, 自己免疫性溶血性

代謝/ホメオスターシスの異常 自己免疫性溶血性貧血

常染色体劣性遺伝

Autoimmune hemolytic anemia (AIHA) is an autoimmune disorder in which various types of auto-antibodies are directed against red blood cells causing their survival to be shortened and resulting in hemolytic anemia.  >> 翻訳 (Google)

636
(44.1%)

Dohle bodies and leukemia

リンパ性浮腫 急性骨髄性白血病 貧血

常染色体劣性遺伝

636
(44.1%)

lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis
----
リンパ球減少性高ガンマグロブリン血症-抗体欠損-自己免疫性溶血性貧血-糸球体腎炎

糸球体腎炎 自己免疫性溶血性貧血 高ガンマグロブリン血症

常染色体劣性遺伝

636
(44.1%)

formiminoglutamic aciduria
----
ホルムイミノトランスフェラーゼ欠損症

アミノ酸尿 好中球核の過剰分節化 巨赤芽球性貧血 知的障害

常染色体劣性遺伝

Formiminoglutamic aciduria, in its moderate form and in the absence of histidine administration, is characterized by mild developmental delay and elevated concentrations of formiminoglutamate (FIGLU) in the urine. A more severe phenotype has been described in five members of a Japanese family and included severe intellectual deficit, psychomotor retardation and megaloblastic anemia.  >> 翻訳 (Google)

636
(44.1%)

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

α-フェトプロテイン上昇 好中球減少症 小頭 貧血

常染色体劣性遺伝

Any Fanconi anemia in which the cause of the disease is a mutation in the MAD2L2 gene.  >> 翻訳 (Google)

636
(44.1%)

immunoglobulin-mediated membranoproliferative glomerulonephritis
----
ネフローゼ症候群7型

溶血性貧血 糸球体腎炎 蛋白尿

常染色体劣性遺伝

Glomerulonephritis characterized by mesangial proliferation, endocapillary proliferation, and glomerular capillary wall remodeling with immune complex deposits from classical complement pathway activation.  >> 翻訳 (Google)

636
(44.1%)

bone marrow failure syndrome 5
----
骨髄不全症候群5

低ガンマグロブリン血症 精巣萎縮 貧血

常染色体優性遺伝

636
(44.1%)

neutropenia, severe congenital, 1, autosomal dominant
----
顆粒球減少症, 重症先天性, 1, 常染色体優性

好中球減少症 成長異常 貧血 高ガンマグロブリン血症

常染色体優性遺伝

636
(44.1%)

glutathione synthetase deficiency with 5-oxoprolinuria
----
ピログルタミン酸尿症

好中球減少症 慢性代謝性アシドーシス 溶血性貧血 色素性網膜症

常染色体劣性遺伝

636
(44.1%)

Wolfram syndrome, mitochondrial form
----
Wolfram 症候群, ミトコンドリア型

好中球減少症 巨赤芽球性貧血 水尿管症 糖尿病

常染色体劣性遺伝 ミトコンドリア遺伝

636
(44.1%)

autosomal recessive Kenny-Caffey syndrome
----
Kenny-Caffey 症候群 1 型

両眼隔離 低カルシウム血症 反復性細菌感染症 貧血

常染色体劣性遺伝

An autosomal recessive form of Kenny-Caffey syndrome due to mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet.  >> 翻訳 (Google)

647
(44.1%)

isobutyryl-CoA dehydrogenase deficiency
----
Isobutyryl-CoA dehydrogenase 欠損症

拡張型心筋症 筋緊張低下 血漿カルニチン減少 貧血

常染色体劣性遺伝

Isobutyryl-CoA dehydrogenase deficiency is an inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anaemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25).  >> 翻訳 (Google)

647
(44.1%)

non-immune hydrops fetalis
----
胎児水腫, 非免疫型

うっ血性心不全 貧血 非免疫性胎児水腫

Non-immune hydrops fetalis (NIHF), a form of HF, is a severe fetal condition defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities, and is the end-stage of a wide variety of disorders.  >> 翻訳 (Google)

647
(44.1%)

Diamond-Blackfan anemia 12
----
Diamond-Blackfan 貧血 12

Elevated red cell adenosine deaminase activity 三指節母指 心室中隔欠損 正色素性貧血

常染色体優性遺伝

Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL15 gene.  >> 翻訳 (Google)

647
(44.1%)

focal segmental glomerulosclerosis 1
----
巣状分節状糸球体硬化症 1

蛋白尿 貧血 高血圧

常染色体優性遺伝

Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ACTN4 gene.  >> 翻訳 (Google)

647
(44.1%)

atypical hemolytic-uremic syndrome with I factor anomaly
----
溶血性尿毒症症候群, 非典型的への感受性3

微小血管症性溶血性貧血 蛋白尿 高血圧

常染色体優性遺伝

647
(44.1%)

atypical hemolytic-uremic syndrome with B factor anomaly
----
溶血性尿毒症症候群, 非典型的への感受性4

微小血管症性溶血性貧血 蛋白尿 高血圧

常染色体優性遺伝

647
(44.1%)

atypical hemolytic-uremic syndrome with C3 anomaly
----
溶血性尿毒症症候群, 非典型的への感受性5

微小血管症性溶血性貧血 蛋白尿 高血圧

常染色体優性遺伝

647
(44.1%)

atypical hemolytic-uremic syndrome with thrombomodulin anomaly
----
溶血性尿毒症候群, 非典型的への感受性6

微小血管症性溶血性貧血 蛋白尿 高血圧

常染色体優性遺伝

647
(44.1%)

nephronophthisis 1
----
ネフロン癆 1 (NPHP1)

ネフロン癆 低張尿 貧血 高血圧

常染色体劣性遺伝

Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure.  >> 翻訳 (Google)

647
(44.1%)

atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
----
溶血性尿毒症症候群, 非典型的への感受性2

微小血管症性溶血性貧血 蛋白尿 高血圧

常染色体優性遺伝 常染色体劣性遺伝

647
(44.1%)

medullary cystic kidney disease 1
----
髄質嚢胞腎 1 (MCKD1)

腎低形成 腎性塩類喪失 貧血 高血圧

常染色体優性遺伝

An inherited disorder that causes a gradual loss of kidney function, caused by a mutation in the MUC1 gene that leads to production of an abnormal mucin 1 protein, which deposits in the kidney and leads to slow loss of kidney function.  >> 翻訳 (Google)

647
(44.1%)

hereditary myopathy with lactic acidosis due to ISCU deficiency
----
ミオパチー-乳酸性アシドーシス, 遺伝性

動悸 筋虚弱 血清乳酸増加 鉄芽球性貧血

常染色体劣性遺伝

Aconitase deficiency is characterised by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase.  >> 翻訳 (Google)

647
(44.1%)

Kearns-Sayre syndrome
----
Kearns-Sayres 症候群 (KSS)

小頭 心筋症 糖尿病 鉄芽球性貧血

ミトコンドリア遺伝

Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block.  >> 翻訳 (Google)

660
(44.0%)

glycogen storage disease due to GLUT2 deficiency
----
Fanconi-Bickel 症候群 (FBS)

ガラクトース代謝障害 吸収障害 皮下脂肪組織減少 腎尿細管機能障害

常染色体劣性遺伝

Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism.  >> 翻訳 (Google)

660
(44.0%)

wrinkly skin syndrome
----
皺の多い皮膚症候群

手足の新生児の皺の多い皮膚 血清トランスフェリンの等電点電気泳動異常 鼠径ヘルニア

常染色体劣性遺伝

Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism).  >> 翻訳 (Google)

662
(43.9%)

deafness, autosomal dominant 34, with or without inflammation
----
難聴, 常染色体優性34 +/- 炎症

Periodic fever リンパ節腫大 結膜炎 蕁麻疹

常染色体優性遺伝

662
(43.9%)

lymphedema, hereditary, 1A
----
リンパ管奇形1

リンパ管低形成 目立つ表面静脈 陰嚢水腫 非免疫性胎児水腫

常染色体優性遺伝

Any hereditary lymphedema in which the cause of the disease is a mutation in the FLT4 gene.  >> 翻訳 (Google)

662
(43.9%)

hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
----
減毛症-リンパ性浮腫-毛細血管拡張-腎奇形症候群

リンパ性浮腫 皮下脂肪組織減少 肺リンパ管拡張 陰嚢水腫

常染色体優性遺伝

665
(43.7%)

osteocraniostenosis
----
細い骨異形成

低カルシウム血症 小陰茎 無脾症

常染色体優性遺伝

Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization.  >> 翻訳 (Google)

666
(43.7%)

polycystic liver disease 2
----
多発性肝嚢胞2 +/- 腎嚢胞

肝腫大 肝膿瘍

常染色体優性遺伝

Any polycystic kidney disease in which the cause of the disease is a mutation in the SEC63 gene.  >> 翻訳 (Google)

666
(43.7%)

3-hydroxy-3-methylglutaryl-CoA synthase deficiency
----
3-ヒドロキシ-3メチルグタリル-CoA シンサーゼ 2, ミトコンドリア, 欠損症

嘔吐 肝腫大

常染色体劣性遺伝

3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism, reported in less than 20 patients to date, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma. Patients are mostly asymptomatic between acute epidodes. HMG-CoA synthase deficiency requires an early diagnosis in order to avoid hypoglycemic crises that can lead to permanent brain damage or death.  >> 翻訳 (Google)

666
(43.7%)

ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome
----
魚鱗癬-肝脾腫-小脳変性

肝脾腫 運動失調

常染色体劣性遺伝

Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome is characterised by ichthyosis, hepatosplenomegaly and late-onset cerebellar ataxia. It has been described in two brothers. Transmission is either autosomal recessive or X-linked.  >> 翻訳 (Google)

666
(43.7%)

glycogen storage disease IXb
----
糖原病 IXb 型

全身性筋緊張低下 肝腫大

常染色体劣性遺伝

Glycogen storage disease (GSD) due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency.  >> 翻訳 (Google)

666
(43.7%)

peroxisome biogenesis disorder 3A (Zellweger)
----
ペルオキシソーム生合成異常症3A (Zellweger)

多嚢胞性腎異形成 肝腫大

常染色体劣性遺伝

666
(43.7%)

peroxisome biogenesis disorder 4A (Zellweger)
----
ペルオキシソーム生合成異常症4A (Zellweger)

肝腫大 腎嚢胞

常染色体劣性遺伝

666
(43.7%)

peroxisome biogenesis disorder 6A (Zellweger)
----
ペルオキシソーム生合成異常症6A (Zellweger)

肝腫大 腎嚢胞

常染色体劣性遺伝

666
(43.7%)

FGFR2-related bent bone dysplasia
----
湾曲骨異形成症候群

歯肉過成長 肝脾腫

常染色体優性遺伝

666
(43.7%)

porencephaly-microcephaly-bilateral congenital cataract syndrome
----
脳の出血性破壊-上衣下石灰化-白内障

停留精巣 肝腫大

常染色体劣性遺伝

666
(43.7%)

peroxisome biogenesis disorder 10A (Zellweger)
----
ペルオキシソーム生合成異常症10A (Zellweger)

肝腫大 高口蓋

常染色体劣性遺伝

666
(43.7%)

Geleophysic dysplasia 2
----
多幸小人症2

肝腫大 薄い上口唇唇紅部

常染色体優性遺伝

Any geleophysic dysplasia in which the cause of the disease is a mutation in the FBN1 gene.  >> 翻訳 (Google)

666
(43.7%)

geleophysic dysplasia 3
----
多幸小人症3

丸い顔 肝腫大

常染色体優性遺伝

666
(43.7%)

acrocephalopolydactyly
----
尖頭多指異形成

肝線維症 肝腫大 腎拡大

常染色体劣性遺伝

Acrocephalopolydactyly, also known as Elejalde syndrome, is an extremely rare lethal autosomal recessive disorder characterized by massive birth weight, swollen globular body, generalized edema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism (slanted palpebral fissures, hypertelorism, epicanthic folds, dysplastic ears), excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. Fewer than 10 cases have been reported to date.  >> 翻訳 (Google)

666
(43.7%)

mulibrey nanism
----
Mulibrey 小人症

小舌 肝腫大

常染色体劣性遺伝

MULIBREY nanism (MUL) is a prenatal onset growth disorder with multiorgan manifestations.  >> 翻訳 (Google)

666
(43.7%)

peroxisomal acyl-CoA oxidase deficiency
----
ペルオキシソーム アシル- CoA オキシダーゼ欠損症

短頭 肝腫大

常染色体劣性遺伝

Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.  >> 翻訳 (Google)

666
(43.7%)

Joubert syndrome with oculorenal defect
----
有馬症候群

ネフロン癆 肝線維症 肝腫大

常染色体劣性遺伝

Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with both renal and ocular disease.  >> 翻訳 (Google)

666
(43.7%)

infantile multisystem neurologic-endocrine-pancreatic disease
----
神経学-内分泌-膵疾患, 多臓器，乳児期発症

肝線維症 肝腫大 襟巻陰嚢

常染色体劣性遺伝

666
(43.7%)

geleophysic dysplasia 1
----
多幸小人症1

幅広い口 肝腫大

常染色体劣性遺伝

Any geleophysic dysplasia in which the cause of the disease is a mutation in the ADAMTSL2 gene.  >> 翻訳 (Google)

666
(43.7%)

C syndrome
----
C 症候群

停留精巣 肝腫大

常染色体優性遺伝

C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability.  >> 翻訳 (Google)

685
(43.5%)

cephalin lipidosis
----
セファリンリピドーシス

代謝/ホメオスターシスの異常 知的障害 脾の異常

常染色体劣性遺伝

686
(43.3%)

hyperbiliverdinemia
----
高ビリベルジン血症

Green urine 胆汁うっ滞 胆石症

常染色体優性遺伝 常染色体劣性遺伝

Hyperbiliverdinemia is a rare, genetic hepatic disease characterized by the presence of green coloration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported.  >> 翻訳 (Google)

686
(43.3%)

gracile syndrome
----
GRACILE 症候群

新生児筋緊張低下 胆汁うっ滞 血清フェリチン増加

常染色体劣性遺伝

GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E).  >> 翻訳 (Google)

686
(43.3%)

neonatal intrahepatic cholestasis due to citrin deficiency
----
シトルリン血症 II 型, 新生児発症

肝内胆汁うっ滞 肝硬変 高トリグリセリド血症

常染色体劣性遺伝

Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia.  >> 翻訳 (Google)

686
(43.3%)

obesity due to pro-opiomelanocortin deficiency
----
肥満, 早期発症-副腎不全-赤毛

低血糖性発作 成長ホルモン欠乏症 胆汁うっ滞

常染色体劣性遺伝

Pro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair and pale skin.  >> 翻訳 (Google)

686
(43.3%)

Mitchell-Riley syndrome
----
糖尿病, 新生児-膵低形成-小腸閉鎖-胆嚢無形成または低形成

子宮内成長遅滞 無胆汁便 環状膵 高ビリルビン血症

常染色体劣性遺伝

686
(43.3%)

Alagille syndrome due to a NOTCH2 point mutation
----
Alagille 症候群 2

胆汁うっ滞性肝疾患 腎不全 蛋白尿

常染色体優性遺伝

686
(43.3%)

adenosine kinase deficiency
----
高メチオニン血症, adenosine kinase 欠乏による

大頭 胆汁うっ滞 高ビリルビン血症

常染色体劣性遺伝

A rare inborn error of metabolism characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement.  >> 翻訳 (Google)

686
(43.3%)

Donohue syndrome
----
Donohue 症候群

肝線維症 胆汁うっ滞 陰茎拡大 高インスリン血症

常染色体劣性遺伝

Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome) characterized by intrauterine and mainly postnatal severe growth retardation.  >> 翻訳 (Google)

686
(43.3%)

Smith-Lemli-Opitz syndrome
----
Smith-Lemli-Opitz 症候群(SLOS)

低コレステロール血症 停留精巣 胆汁うっ滞性肝疾患

常染色体劣性遺伝

Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.  >> 翻訳 (Google)

695
(43.3%)

Immunoerythromyeloid hypoplasia
----
リンパ赤芽球低形成

IgG欠乏症 赤芽球系低形成

常染色体劣性遺伝

696
(43.1%)

hereditary chronic pancreatitis
----
膵炎, 遺伝性

異常な血栓症 糖尿病 膵炎

常染色体優性遺伝

Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas.  >> 翻訳 (Google)

697
(42.9%)

thrombocytopenia 2
----
血小板減少 2 (THC2)

出血傾向

常染色体優性遺伝

An autosomal dominant disorder caused by mutation(s) in the ANKRD26 gene, encoding ANKRD26 protein. Additionally, in one family, a mutation(s) has been identified in the MASTL gene, encoding serine/threonine-protein kinase greatwall. The condition is characterized by mild to moderate bruisability.  >> 翻訳 (Google)

697
(42.9%)

fibrinolytic defect
----
フィブリン溶解障害

自然血管腫 過伸展皮膚

常染色体優性遺伝

697
(42.9%)

complement component 2 deficiency
----
補体成分-2 欠損症

紫斑

常染色体劣性遺伝

Complement component 2 deficiency (C2D) is a genetic condition that affects the immune system. Signs and symptoms include recurrent bacterial infections and risk for a variety of autoimmune conditions. Infections can be very serious and are common in early life. They become less frequent during the teen and adult years. The most frequent autoimmune conditions associated with C2D are lupus (10-20%) and vasculitis. C2D is caused by mutations in the C2 gene and is inherited in an autosomal recessive fashion.  >> 翻訳 (Google)

697
(42.9%)

epidermolysis bullosa simplex Ogna type
----
単純型表皮水泡症, Ogna 型

出血傾向

常染色体優性遺伝

Epidermolysis bullosa simplex, Ogna type (EBS-O) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by sometimes widespread, primarily acral blistering.  >> 翻訳 (Google)