201
(57.9%)

familial visceral amyloidosis
----
アミロイドーシス, 家族性内蔵型

胆汁うっ滞 脾腫 蛋白尿

常染色体優性遺伝

201
(57.9%)

short-rib thoracic dysplasia 10 with or without polydactyly
----
短肋骨性胸郭異形成10 +/- 多指症

ネフロン癆 耐糖能異常 胆汁うっ滞 脾腫

常染色体劣性遺伝

An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23.  >> 翻訳 (Google)

201
(57.9%)

neonatal diabetes mellitus with congenital hypothyroidism
----
糖尿病, 新生児-先天的甲状腺機能低下症

多嚢胞性腎異形成 糖尿病 胆汁うっ滞 脾腫

常染色体劣性遺伝

A rare genetic disease characterized by intrauterine growth retardation, permanent neonatal diabetes mellitus, and congenital hypothyroidism. Additional manifestations include congenital glaucoma, hepatic disease (hepatitis, fibrosis, and cirrhosis), polycystic kidneys, exocrine pancreatic dysfunction, sensorineural hearing impairment, developmental delay, and mild facial dysmorphism (such as flat nasal bridge, epicanthal folds, long philtrum, and low-set ears), among others  >> 翻訳 (Google)

201
(57.9%)

cranioectodermal dysplasia 2
----
頭蓋外胚葉異形成2

胆汁うっ滞 胎児水腫 脾腫 鼠径ヘルニア

常染色体劣性遺伝

Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the WDR35 gene.  >> 翻訳 (Google)

205
(57.9%)

combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
----
複合免疫不全-巨赤芽球性貧血 +/- 高ホモシステイン血症

メチルコバラミンの減少 嘔吐 巨赤芽球性貧血 湿疹

常染色体劣性遺伝

205
(57.9%)

methylmalonic aciduria and homocystinuria type cblF
----
メチルマロン酸尿症およびホモシスチン尿症, cblF 型

メチルマロン酸血症 巨赤芽球性貧血 皮膚発疹 食餌摂取障害 in infancy

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 megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. The disorder is caused by mutations in the LMBRD1 gene (6q13) and is transmitted in an autosomal recessive manner.  >> 翻訳 (Google)

207
(57.8%)

platelet-type bleeding disorder 19
----
出血性疾患, 血小板型, 19

月経痛 自然血管腫 貧血

常染色体劣性遺伝

Any isolated hereditary giant platelet disorder in which the cause of the disease is a mutation in the PRKACG gene.  >> 翻訳 (Google)

207
(57.8%)

thrombocytopenia 5
----
血小板減少症5

点状出血 貧血 鼻出血

常染色体優性遺伝

Any thrombocytopenia in which the cause of the disease is a mutation in the ETV6 gene.  >> 翻訳 (Google)

207
(57.8%)

platelet-type bleeding disorder 16
----
出血性疾患, 血小板型, 16

点状出血 貧血

常染色体優性遺伝 常染色体劣性遺伝

An inherited blood coagulation disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has material basis in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32.  >> 翻訳 (Google)

207
(57.8%)

recessive dystrophic epidermolysis bullosa
----
栄養障害型表皮水疱症 常染色体劣性

狭い口 結膜炎 脆い皮膚 貧血

常染色体劣性遺伝

Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.  >> 翻訳 (Google)

207
(57.8%)

PGM3-CDG
----
免疫不全23

溶血性貧血 紅斑 高口蓋

常染色体劣性遺伝

207
(57.8%)

cerebroretinal microangiopathy with calcifications and cysts 1
----
大脳網膜微小血管症-石灰化-嚢胞1

盲 網膜毛細血管拡張 貧血

常染色体劣性遺伝

Any Coats plus syndrome in which the cause of the disease is a mutation in the CTC1 gene.  >> 翻訳 (Google)

213
(57.7%)

PMM2-CDG
----
先天性グリコシル化異常症 Ia (CDG IA)

I 型 transferrin isoform プロフィール 異常な皮下脂肪組織分布 肝腫大 血小板増多症

常染色体劣性遺伝

PMM2-CDG is the most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults.  >> 翻訳 (Google)

214
(57.4%)

Schimke immuno-osseous dysplasia
----
Schimke 免疫骨異形成

メラニン増加性斑 一過性虚血発作 蛋白尿 貧血

常染色体劣性遺伝

Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.  >> 翻訳 (Google)

214
(57.4%)

Diamond-Blackfan anemia 1
----
Diamond-Blackfan 貧血 1

Elevated red cell adenosine deaminase activity 先天性再生不良性貧血 大動脈縮窄 網状赤血球減少症 蒼白

常染色体優性遺伝

Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS19 gene.  >> 翻訳 (Google)

216
(57.3%)

mitochondrial DNA depletion syndrome 15 (hepatocerebral type);
----
ミトコンドリアDNA枯渇症候群15 (肝脳型)

低血糖 凝固カスケードの異常 腹水 黄疸

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 TFAM gene.  >> 翻訳 (Google)

217
(57.2%)

blue rubber bleb nevus
----
青色ゴムまり様母斑症候群

口の異常 肝の異常 鉄欠乏症貧血

常染色体優性遺伝

Blue rubber bleb nevus (BRBNS) is a rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia.  >> 翻訳 (Google)

217
(57.2%)

nephronophthisis 11
----
ネフロン癆11

ネフロン癆 肝線維症 貧血

常染色体劣性遺伝

A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1.  >> 翻訳 (Google)

219
(56.9%)

pericardial effusion, chronic
----
心外膜滲出液, 慢性

Flushing 多血症 網膜小動脈蛇行

常染色体劣性遺伝

Chronic form of pericardial effusion (disease).  >> 翻訳 (Google)

220
(56.9%)

Camurati-Engelmann disease
----
Camurati-Engelmann 病 (CED)

下顎突出 皮下脂肪組織減少 貧血 食思不振

常染色体優性遺伝

Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability.  >> 翻訳 (Google)

221
(56.7%)

isolated neonatal sclerosing cholangitis

脾腫 黄疸

常染色体劣性遺伝

Isolated neonatal sclerosing cholangitis is a rare, genetic, biliary tract disease characterized by severe neonatal-onset cholangiopathy with patent bile ducts and absence of ichthyosiform skin lesions. Patients present with jaundice, acholic stools, hepatosplenomegaly and high serum gamma-glutamyltransferase activity. Liver histology shows portal fibrosis, ductular proliferation, hepatocellular metallothionein deposits, and intralobular bile-pigment accumulations. Some patients may also have renal disease.  >> 翻訳 (Google)

221
(56.7%)

progressive familial intrahepatic cholestasis type 3
----
胆汁うっ滞, 進行性家族性肝内 3 (PFIC3)

脾腫 黄疸

常染色体劣性遺伝 Heterogeneous

Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood.  >> 翻訳 (Google)

223
(56.6%)

methylmalonic acidemia with homocystinuria, type cblJ
----
メチルマロン酸尿症とホモシスチン尿症, cblJ型

メチルマロン酸血症 大動脈縮窄 貧血 鼠径ヘルニア

常染色体劣性遺伝

224
(56.6%)

Diamond-Blackfan anemia 7
----
Diamond-Blackfan 貧血 7 (DBA7)

Fallot 四徴症 ビタミンD欠乏症 大球性貧血 食道炎

常染色体優性遺伝

Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL11 gene.  >> 翻訳 (Google)

225
(56.5%)

Fanconi anemia complementation group L
----
Fanconi 貧血, 相補群 L

Chromosome breakage カフェオーレ斑 貧血 鎖肛

常染色体劣性遺伝

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

225
(56.5%)

Cronkhite-Canada syndrome
----
ポリープ症-皮膚色素沈着-禿頭-指爪異常

低カリウム血症 嘔吐 皮膚高色素 貧血

孤発性

Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation.  >> 翻訳 (Google)

225
(56.5%)

Nijmegen breakage syndrome
----
Nijmegen 染色体断裂症候群

カフェオーレ斑 下痢 異常ガンマグロブリン血症 自己免疫性溶血性貧血

常染色体劣性遺伝

Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.  >> 翻訳 (Google)

225
(56.5%)

short stature, microcephaly, and endocrine dysfunction
----
低身長-小頭-内分泌障害

糖尿病 貧血 黒色表皮腫 鼠径ヘルニア

常染色体劣性遺伝

229
(56.4%)

methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
----
メチルマロン酸尿症, メチルマロン酸 CoA ムターゼ欠損症による

メチルマロン酸血症 肝腫大 血小板減少

常染色体劣性遺伝

Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: mut0 and mut-.  >> 翻訳 (Google)

230
(56.4%)

von Hippel-Lindau disease
----
Von Hippel-Lindau 症候群(VHL)

多血症 耳鳴 肝の異常

常染色体優性遺伝

Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma.  >> 翻訳 (Google)

231
(56.3%)

optic nerve edema-splenomegaly syndrome
----
脾腫-細胞減少-視力喪失

汎血球減少症 脾腫 蕁麻疹 視力喪失

常染色体優性遺伝

Optic nerve edema-splenomegaly syndrome is a rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches.  >> 翻訳 (Google)

231
(56.3%)

gray platelet syndrome
----
灰色血小板症候群

出血傾向 月経痛 脾腫

常染色体劣性遺伝

Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear.  >> 翻訳 (Google)

233
(56.0%)

TFRC-related combined immunodeficiency
----
免疫不全46

低ガンマグロブリン血症 慢性口腔カンジダ症 結膜炎 貧血

常染色体劣性遺伝

233
(56.0%)

thiamine-responsive megaloblastic anemia syndrome
----
チアミン反応性貧血症候群

卒中 皮膚の異常 糖尿病 鉄芽球性貧血

常染色体劣性遺伝

Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.  >> 翻訳 (Google)

233
(56.0%)

Wiskott-Aldrich syndrome, autosomal dominant form
----
Wiskot-Alrich 症候群, 常染色体優性型

大血管血管炎 湿疹 溶血性貧血 特異的抗多糖類抗体欠乏症

常染色体優性遺伝 常染色体劣性遺伝

236
(56.0%)

congenital intrinsic factor deficiency
----
内因子欠乏症

ビタミンB12吸収不全 吸収障害 巨赤芽球性貧血

常染色体劣性遺伝

Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities.  >> 翻訳 (Google)

236
(56.0%)

methylcobalamin deficiency type cblG
----
ホモシスチン尿症-巨巨赤芽球貧血, cblG 相補型

メチルコバラミンの減少 巨赤芽球性貧血 食餌摂取障害 in infancy

常染色体劣性遺伝

Methylcobalamin deficiency cbl G type is a rare condition that occurs when the body is unable to process certain amino acids (building blocks of protein) properly. In most cases, signs and symptoms develop during the first year of life; however, the age of onset can range from infancy to adulthood. Common features of the condition include feeding difficulties, lethargy, seizures, poor muscle tone (hypotonia), developmental delay, microcephaly (unusually small head size), and megaloblastic anemia. Methylcobalamin deficiency cbl G type is caused by changes (mutations) in the MTR gene and is inherited in an autosomal recessive manner. Treatment generally includes regular doses of hydroxycobalamin (vitamin B12). Some affected people may also require supplementation with folates and betaine.  >> 翻訳 (Google)

236
(56.0%)

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

メチルマロン酸血症 巨赤芽球性貧血 食餌摂取障害 in infancy

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 megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. cblC type methylmalonic acidemia with homocystinuria is caused by mutations in the MMACHC gene (1p36.3) and is transmitted in an autosomal recessive manner.  >> 翻訳 (Google)

239
(56.0%)

MPI-CDG
----
先天的グリコシル化障害 Ib 型 (CDG1B)

I 型 transferrin isoform プロフィール 異常な出血 肝硬変 肝腫大

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)

239
(56.0%)

RFT1-CDG
----
先天性グリコシル化障害 In 型 (CDG1N)

凝固カスケードの異常 肝腫大 血清トランスフェリンの等電点電気泳動異常

常染色体劣性遺伝

RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1).  >> 翻訳 (Google)

241
(55.9%)

persistent polyclonal B-cell lymphocytosis

IgM欠乏症 リンパ球増多症 肝腫大 脾腫

常染色体優性遺伝

Persistent polyclonal B-cell lymphocytosis (PPBL) is a rare, generally benign, lymphoproliferative hematological disease characterized by: chronic, stable, persistent, polyclonal lymphocytosis of memory B-cell origin, the presence of binucleated lymphocytes in the peripheral blood, and a polyclonal increase in serum immunoglobulin M (IgM). Patients are most frequently asymptomatic or may present with mild splenomegaly.  >> 翻訳 (Google)

241
(55.9%)

Farber lipogranulomatosis
----
Farber 脂肪肉芽腫症

Lipogranulomatosis 肝腫大 脾腫 関節腫脹

常染色体劣性遺伝

Farber disease is a rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement.  >> 翻訳 (Google)

241
(55.9%)

Niemann-Pick disease type B
----
Niemann-Pick 病B型

海青組織球症 肝腫大 脾腫 高トリグリセリド血症

常染色体劣性遺伝

Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea  >> 翻訳 (Google)

241
(55.9%)

macrocephaly-autism syndrome
----
巨頭/自閉症症候群

リンパ球減少症 低ガンマグロブリン血症 肝腫大 脾腫

常染色体優性遺伝

An autosomal dominant disease characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has material basis in heterozygous mutation in the PTEN gene on chromosome 10q23.  >> 翻訳 (Google)

241
(55.9%)

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

再生不良性貧血 発熱 肝腫大 脾腫

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)

241
(55.9%)

lysosomal acid lipase deficiency
----
リソソーム酸性リパーゼ欠損症

空胞化リンパ球 肝硬変 脾腫 高トリグリセリド血症

常染色体劣性遺伝

Lysosomal acid lipase deficiency is a lipid storage disease that can result in 1) an early-onset severe form, Wolman disease, or 2) a less severe form, cholesteryl ester storage disease, of cholesteryl ester accumulation in the body (liver, spleen, macrophages). Wolman disease is characterized by neonatal abdominal distension, major or even massive hepatosplenomegaly and calcified adrenal glands, cholesteryl ester storage disease presents with microvesicular steatosis leading to hepatomegaly and hypercholesterolaemia with subsequent liver failure and accelerated atherosclerosis.  >> 翻訳 (Google)

241
(55.9%)

immunodeficiency, common variable, 1
----
分類不能型免疫不全1

IgA欠乏症 肝腫大 脾腫 自己免疫性好中球減少症

常染色体劣性遺伝

241
(55.9%)

X-linked lymphoproliferative disease due to XIAP deficiency
----
リンパ増殖症候群, X連鎖性, 2

再生不良性貧血 発熱 肝腫大 脾腫

X連鎖遺伝 X連鎖劣性遺伝

A condition of decreased or absent presence of baculoviral IAP repeat-containing protein 4. Deficiency of this protein is associated with X-linked lymphoproliferative syndrome 2.  >> 翻訳 (Google)

241
(55.9%)

Gaucher disease type III
----
Gaucher 病 III 型 (GD III)

β-グルコセレブロシダーゼタンパクと活性の減少 肝腫大 脾腫 血小板減少

常染色体劣性遺伝

Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1.  >> 翻訳 (Google)

241
(55.9%)

immunodeficiency, common variable, 2
----
分類不能型免疫不全症2

IgA欠乏症 リンパ腫 肝腫大 脾腫

常染色体優性遺伝 常染色体劣性遺伝

241
(55.9%)

granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1
----
肉芽腫症, 慢性, 常染色体劣性, シトクロム b 陽性型 I

NADPH oxidase活性の減少 肉芽腫症 肝腫大 脾腫

常染色体劣性遺伝

Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF1 gene.  >> 翻訳 (Google)

241
(55.9%)

granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
----
肉芽腫症, 慢性, 常染色体性シトクロム b 陽性型 II (NCF2)

NADPH oxidase活性の減少 肉芽腫症 肝腫大 脾腫

常染色体劣性遺伝

Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF2 gene.  >> 翻訳 (Google)

241
(55.9%)

granulomatous disease, chronic, X-linked
----
肉芽腫症, 慢性, X連鎖性 (CGD)

NADPH oxidase活性の減少 肉芽腫症 肝腫大 脾腫

X連鎖劣性遺伝

241
(55.9%)

granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
----
肉芽腫症, 慢性, 常染色体性シトクロム b 陰性型

NADPH oxidase活性の減少 肉芽腫症 肝腫大 脾腫

常染色体劣性遺伝

241
(55.9%)

Aicardi-Goutieres syndrome 7
----
Aicardi-Goutieres 症候群7

肝腫大 脾腫 血小板減少 高ガンマグロブリン血症

常染色体優性遺伝

Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the IFIH1 gene.  >> 翻訳 (Google)

241
(55.9%)

tyrosinemia type I
----
チロジン血症 I 型

低血糖 異常な出血 肝硬変 脾腫

常染色体劣性遺伝

Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone.  >> 翻訳 (Google)

241
(55.9%)

sialidosis type 2
----
ノイラミニダーゼ欠損症

空胞化リンパ球 肝腫大 脾腫 蛋白尿

常染色体劣性遺伝

Sialidosis type 2 (ST-2) is a rare lysosomal storage disease, and the severe, early onset form of sialidosis characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations.  >> 翻訳 (Google)

241
(55.9%)

free sialic acid storage disease, infantile form
----
乳児シアル酸蓄積症

空胞化リンパ球 肝腫大 胎児水腫 脾腫

常染色体劣性遺伝

241
(55.9%)

autosomal recessive familial Mediterranean fever
----
家族性地中海熱 (MEFV; MEF; FMF)

白血球増多症 肝腫大 脾腫 腎アミロイド症

常染色体劣性遺伝

Autosomal recessive form of familial Mediterranean fever.  >> 翻訳 (Google)

241
(55.9%)

sarcoidosis, susceptibility to, 1
----
サルコイドーシスへの感受性1

汎血球減少症 発熱 肝腫大 脾腫

常染色体優性遺伝 孤発性

Any sarcoidosis in which the cause of the disease is a mutation in the HLA-DRB1 gene.  >> 翻訳 (Google)

241
(55.9%)

H syndrome
----
組織球症-リンパ節腫大プラス症候群

糖尿病 組織球症 肝腫大 脾腫

常染色体劣性遺伝

H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).  >> 翻訳 (Google)

241
(55.9%)

alpha-mannosidosis
----
マンノース症, αB, リソソーム

低ガンマグロブリン血症 空胞化リンパ球 肝腫大 脾腫

常染色体劣性遺伝

Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit.  >> 翻訳 (Google)

263
(55.9%)

benign recurrent intrahepatic cholestasis type 2

抱合型高ビリルビン血症 肝腫大 黄疸

常染色体劣性遺伝

263
(55.9%)

benign recurrent intrahepatic cholestasis type 1
----
胆汁うっ滞, 良性反復性肝内

抱合型高ビリルビン血症 肝腫大 間歇的黄疸 難聴

常染色体劣性遺伝

Benign recurrent intrahepatic cholestasis 1 (BRIC1) is characterized by episodes of liver dysfunction called cholestasis, during which the liver cells have a reduced ability to release a digestive fluid called bile. These episodes can last from weeks to months, and the time between them, during which there are usually no symptoms, can vary from weeks to years.Most people with BRIC1have their first episode of cholestasisintheir teens or twenties. Symptoms oftenpresent with severe itchiness, followed by yellowing of the skin and whites of the eyes (jaundice) a few weeks later. BRIC1 is caused by mutations in the ATP8B1 gene. This condition is inherited in an autosomal recessive pattern.BRIC1generally does not cause lasting damage to the liver. However, in rare cases, episodes of liver dysfunction may develop into a more severe, permanent form of liver disease known as progressive familial intrahepatic cholestasis (PFIC). BRIC and PFIC are sometimes considered to be part of a spectrum of intrahepatic cholestasis disorders of varying severity.  >> 翻訳 (Google)

263
(55.9%)

extrahepatic biliary atresia
----
胆管閉鎖, 肝外 (EHBA)

総ビリルビン増加 肝腫大 黄疸

A disorder of infants in which there is progressive obliteration or discontinuity of the extrahepatic biliary system, resulting in obstruction of bile flow.  >> 翻訳 (Google)

263
(55.9%)

multiple acyl-CoA dehydrogenase deficiency
----
多発性アシル-CoA 脱水素欠乏症 (MADD)

低血糖 性器異常 肝腫大 黄疸

常染色体劣性遺伝

A disorder of fatty acid and amino acid oxidation, caused by mutations in ETFDH, ETFA, or ETFB, and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure.  >> 翻訳 (Google)

263
(55.9%)

Navajo neurohepatopathy
----
ミトコンドリアDNA欠乏症6 (肝腎型)

低血糖 反復性角膜びらん 肝腫大 遷延性新生児黄疸

常染色体劣性遺伝

263
(55.9%)

peroxisome biogenesis disorder 2A (Zellweger)
----
ペルオキシソーム生合成異常症2A (Zellweger)

アミノ酸尿 停留精巣 肝腫大 黄疸

常染色体劣性遺伝

263
(55.9%)

peroxisome biogenesis disorder 1A (Zellweger)
----
ペルオキシソーム生合成異常症1A (Zellweger)

アミノ酸尿 停留精巣 肝腫大 遷延性新生児黄疸

常染色体劣性遺伝 Heterogeneous

270
(55.8%)

poikiloderma with neutropenia
----
ポイキロデルマ-好中球減少 (PN)

多形皮膚萎縮症 (ポイキロデルマ) 好中球減少症 脾腫 血清 creatine phosphokinase上昇

常染色体劣性遺伝

A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections. It has material basis in mutation in the C16ORF57 gene on chromosome 16q13.  >> 翻訳 (Google)

270
(55.8%)

hyperimmunoglobulinemia D with periodic fever
----
高IgD症候群

IgA 値増加 メラニン増加性斑 白血球増多症 脾腫

常染色体劣性遺伝

Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).  >> 翻訳 (Google)

272
(55.6%)

pseudo-TORCH syndrome 2
----
偽TORCH 症候群2

乳酸性アシドーシス 点状出血 肝腫大

常染色体劣性遺伝

272
(55.6%)

aspartylglucosaminuria
----
アスパルチルグルコサミン尿 (AGU)

びまん性体部被角血管腫 代謝/ホメオスターシスの異常 好中球減少症 肝腫大

常染色体劣性遺伝

Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).  >> 翻訳 (Google)

274
(55.6%)

systemic lupus erythematosus (disease)
----
紅斑性狼瘡, 全身性 (SLE)

溶血性貧血 皮膚光線過敏症 腎炎

常染色体優性遺伝

An autoimmune multi-organ disease typically associated with vasculopathy and autoantibody production. Most patients have antinuclear antibodies (ANA). The presence of anti-dsDNA or anti-Smith antibodies are highly-specific.  >> 翻訳 (Google)

275
(55.3%)

Kabuki syndrome 1
----
歌舞伎症候群 1

カフェオーレ斑 停留精巣 大動脈縮窄 溶血性貧血

常染色体優性遺伝

276
(55.2%)

methemoglobinemia type 4
----
メトヘモグロビン血症,-性別不明の外性器

チアノーゼ メトヘモグロビン血症 代謝/ホメオスターシスの異常 男性仮性半陰陽

常染色体劣性遺伝

Any methemoglobinemia in which the cause of the disease is a mutation in the CYB5A gene.  >> 翻訳 (Google)

277
(55.2%)

nephronophthisis 19
----
ネフロン癆 19

ネフロン癆 胆汁うっ滞 脾腫

常染色体劣性遺伝

Any nephronophthisis in which the cause of the disease is a mutation in the DCDC2 gene.  >> 翻訳 (Google)

278
(55.2%)

Fanconi anemia complementation group G
----
Fanconi 貧血, 相補群G

多発性カフェオーレ斑 好中球減少症 染色体安定性の異常 貧血

Fanconi anemia caused by mutations of the FANCG gene.  >> 翻訳 (Google)

278
(55.2%)

bone marrow failure syndrome 4
----
骨髄不全症候群4

乾いた皮膚 低ガンマグロブリン血症 湿疹 貧血

常染色体劣性遺伝

278
(55.2%)

stiff-person syndrome
----
スティッフパーソン症候群

白斑 糖尿病 自己免疫 貧血

孤発性

Stiff-man syndrome (SMS) is a rare neurological disorder comprising fluctuating trunk and limb stiffness, painful muscle spasms, task-specific phobia, an exaggerated startle response, and ankylosing deformities such as fixed lumbar hyperlordosis.  >> 翻訳 (Google)

281
(55.1%)

hereditary pediatric Behçet-like disease

溶血性貧血 発熱エピソード 皮膚発疹 結腸炎

常染色体優性遺伝

281
(55.1%)

autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
----
免疫不全31C

下痢 湿疹 糖尿病 自己免疫性溶血性貧血

常染色体優性遺伝

Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia.  >> 翻訳 (Google)

281
(55.1%)

STAT3-related early-onset multisystem autoimmune disease

セリアック病 湿疹 糖尿病 自己免疫性溶血性貧血

常染色体優性遺伝

284
(55.1%)

DPAGT1-CDG
----
先天性グリコシル化異常症 Ij 型 (CDG1J)

I 型 transferrin isoform プロフィール アンチトロンビン III 活性の減少 黄疸

常染色体劣性遺伝

DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3).  >> 翻訳 (Google)

285
(54.8%)

encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency
----
脳筋症, ミトコンドリア, 圧依存性いンイオンチャネル欠乏による

ケトン尿 小さい爪 臍ヘルニア 貧血

孤発性

286
(54.7%)

phosphoenolpyruvate carboxykinase deficiency, cytosolic

チアノーゼ 低血糖 肝腫大 視神経萎縮

常染色体劣性遺伝

PEPCK1 deficiency is a rare inborn error of metabolism disorder, characterized by the deficiency of the enzyme PEPCK1, one of the enzymes needed for gluconeogenesis, the process by which organisms produce sugars (namely glucose) from non-carbohydrate precursors (such as amino acids). The symptoms described in the few cases reported in the medical literature suggest that there may be variation in the severity of the symptoms ranging from severe early-onset cases, to milder late-onset presentations. In severe cases symptoms may include persistent and very low levels of blood's sugar in newborns (neonatal hypoglycemia), failure to thrive, build-up of lactic acid in the blood (lactic acidosis), liver enlargement (hepatomegaly) and liver failure leading to neurological degeneration. Milder cases present during childhood with fewer and less serious liver problems. Infections and fasting may trigger the symptoms. PEPCK1 deficiency inheritance is autosomal recessive. It is caused by mutations in the PEPCK1 gene. Some researchers believe that the severity of the disease depend upon the mutations resulting in less or more PEPCK1 activity (the more active the enzyme is, the less severe the disease is, and vice versa). Treatment depend on the symptoms and may include giving extra carbohydrates during heavy exercise and illness or other times of fasting (formal sick day regimen) by the dietitian.PEPCK1 is the cytosolic form of the phosphoenolpyruvate carboxykinase (PEPCK) enzyme, the other being the mitochondrial (PEPCK2).  >> 翻訳 (Google)

287
(54.6%)

BENTA disease

IgM欠乏症 リンパ球増多症 脾腫

常染色体優性遺伝

BENTA disease (B cell Expansion with N F-N:B and T cell Anergy) is a very rare congenital immune deficiency disorder. The main symptoms include spleen enlargement (splenomegalia) and frequent ear, sinus, and lung infections early in life. Some patients can present with molluscum contagiosum or chronic Epstein-Barr virus (EBV) infection. Blood exams show alterations of several immune cells with very high numbers of polyclonal B cell lymphocytos (above 2200/N  >> 翻訳 (Google)

287
(54.6%)

splenomegaly syndrome with splenic Germinal center hypoplasia and reduced circulating T helper cells
----
脾腫症候群-脾胚中心低形成-循環型ヘルパー細胞減少

汎血球減少症 皮膚アネルギー 脾腫

常染色体優性遺伝

287
(54.6%)

immunodeficiency 14
----
免疫不全14)

IgM 値増加 T リンパ球減少症 脾腫

常染色体優性遺伝

287
(54.6%)

immunodeficiency 36
----
免疫不全36

リンパ球減少症 低ガンマグロブリン血症 脾腫

常染色体優性遺伝

287
(54.6%)

periodic fever-infantile enterocolitis-autoinflammatory syndrome

汎血球減少症 発熱 脾腫

常染色体優性遺伝

287
(54.6%)

lymphedema, hereditary, type III
----
リンパ管奇形6

深部静脈血栓症 脾腫 顔面浮腫

常染色体劣性遺伝

293
(54.6%)

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

ケトン症 筋緊張低下 胆管増殖 脾腫

常染色体劣性遺伝

A liver PhK deficiency caused by variants in the PHKG2 gene  >> 翻訳 (Google)

293
(54.6%)

trichohepatoneurodevelopmental syndrome
----
毛髪肝神経発達障害症候群

アルカリホスファターゼ上昇 巨舌 胆石症 脾腫

常染色体劣性遺伝

293
(54.6%)

Meckel syndrome, type 1
----
Meckel 症候群1型

停留精巣 羊水中α-フェトプロテイン上昇 胆管増殖 脾腫

常染色体劣性遺伝

Any Meckel syndrome in which the cause of the disease is a mutation in the MKS1 gene.  >> 翻訳 (Google)

296
(54.4%)

hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
----
混合性酸化的リン酸化欠乏症1

代謝性アシドーシス 小頭 肝腫大 胆汁うっ滞

常染色体劣性遺伝

Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 is a rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement.  >> 翻訳 (Google)

296
(54.4%)

leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
----
混合性酸化的リン酸化欠乏症12

口蓋裂 肝腫大 胆汁うっ滞 血清乳酸増加

常染色体劣性遺伝

Leukoencephalopathy-thalamus and brainstem anomalies-high lactate (LTBL) syndrome is a rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (incl. extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterized by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward.  >> 翻訳 (Google)

298
(54.4%)

congenital nongoitrous hypothryoidism 6
----
甲状腺機能低下症, 先天性, 非甲状腺腫性, 6

乾いた皮膚 巨舌 臍帯ヘルニア 貧血

常染色体優性遺伝

Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the THRA gene.  >> 翻訳 (Google)

298
(54.4%)

myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay
----
骨髄異形成-免疫不全-顔貌異常-低身長-精神運動発達遅滞

脂肪便 膀胱尿管逆流 薄い皮膚 貧血

常染色体劣性遺伝

298
(54.4%)

craniofacial dysplasia - osteopenia syndrome
----
Hamamay 症候群

低色素性貧血 耳介前皮膚肉柱 鼠径ヘルニア

常染色体劣性遺伝