61
(71.0%)

autoimmune polyendocrine syndrome type 1
----
自己免疫性多分泌症候群 I 型

無脾症 糖尿病 胆石症 貧血

常染色体優性遺伝 常染色体劣性遺伝

Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure.  >> 翻訳 (Google)

62
(70.9%)

hemochromatosis type 2B
----
ヘモクロマトーシス2B型

肝硬変 脾腫 血清フェリチン増加 貧血

常染色体劣性遺伝

Any hemochromatosis type 2 in which the cause of the disease is a mutation in the HAMP gene.  >> 翻訳 (Google)

62
(70.9%)

congenital dyserythropoietic anemia type 4
----
貧血, 先天性赤血球造血異常性, IV型

不適切な産生貧血 網状赤血球増多症 肝腫大 胎児水腫 脾腫

常染色体優性遺伝

Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth.  >> 翻訳 (Google)

62
(70.9%)

congenital neutropenia-myelofibrosis-nephromegaly syndrome
----
顆粒球減少症, 重症先天性, 5, 常染色体優性

肝腫大 脾腫 貧血 高ガンマグロブリン血症

常染色体劣性遺伝

62
(70.9%)

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

リンパ球アポトーシス障害 溶血性貧血 肝腫大 脾腫

常染色体優性遺伝 体細胞突然変

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

62
(70.9%)

Omenn syndrome
----
Omenn 症候群

低タンパク血症 肝腫大 脾腫 貧血

常染色体劣性遺伝

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

62
(70.9%)

familial hemophagocytic lymphohistiocytosis 4
----
血球貪食性リンパ組織球症, 家族性, 4 (HPLH4)

発熱 肝腫大 脾腫 貧血

常染色体劣性遺伝

Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STX11 gene.  >> 翻訳 (Google)

62
(70.9%)

autosomal recessive osteopetrosis 7
----
大理石骨病, 常染色体劣性7

低カルシウム血症性発作 肝腫大 脾腫 貧血

常染色体劣性遺伝

Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFRS11A gene.  >> 翻訳 (Google)

62
(70.9%)

immunodeficiency 27A
----
免疫不全27

発熱 肝脾腫 脾腫 貧血

常染色体劣性遺伝

62
(70.9%)

neonatal severe primary hyperparathyroidism
----
副甲状腺機能亢進症, 新生児重症

低リン血症 肝腫大 脾腫 貧血

常染色体優性遺伝 常染色体劣性遺伝

Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism.  >> 翻訳 (Google)

62
(70.9%)

autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
----
自己免疫性リンパ増殖症候群V型 (ALPS5)

低ガンマグロブリン血症 肝腫大 脾腫 自己免疫性溶血性貧血

常染色体優性遺伝

A somatic mutation in the CTLA4 gene resulting in only a single functional gene. Haploinsufficiency for CTLA4 is associated with autoimmune lymphoproliferative syndrome, type V.  >> 翻訳 (Google)

62
(70.9%)

proteasome-associated autoinflammatory syndrome 3
----
Proteasome-関連自己炎症症候群 3

発熱エピソード 肝腫大 脾腫 貧血

常染色体劣性遺伝

62
(70.9%)

X-linked lymphoproliferative disease due to SH2D1A deficiency
----
リンパ増殖性疾患, X連鎖性, 1

IgM 値増加 肝腫大 脾腫 貧血

X連鎖劣性遺伝

A rare, genetic, primary immunodeficiency disorder characterized by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked SH2D1A gene, resulting in B cell lymphoproliferation and manifesting with various phenotypes which include EBV-driven severe or fulminant mononucleosis, hemophagocytic lymphohistiocytosis (presenting with fulminant hepatitis, hepatic necrosis, bone marrow hypoplasia, and neurological involvement), hypogammaglobulinemia, and B-cell lymphoma. Additional variable manifestations include vasculitis, lymphomatoid granulomatosis, aplastic anemia, and chronic gastritis. Occasionally, T-cell lymphoma may be observed. Laboratory findings include normal or increased activated T cells and reduced memory B cells.  >> 翻訳 (Google)

62
(70.9%)

lymphoproliferative syndrome 1
----
リンパ増殖症候群 1

肝腫大 脾腫 貧血 赤沈値上昇

常染色体劣性遺伝

A condition of decreased or absent presence or activity of IL2-inducible t-cell kinase. Deficiency of this protein is associated with lymphoproliferative syndrome 1, an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia..  >> 翻訳 (Google)

62
(70.9%)

autosomal recessive osteopetrosis 1
----
大理石骨病, 常染色体劣性1型

アルカリホスファターゼ上昇 肝腫大 脾腫 貧血

常染色体劣性遺伝 Heterogeneous

Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TCIRG1 gene.  >> 翻訳 (Google)

62
(70.9%)

hyper-IgM syndrome type 1
----
免疫不全-IgM高値

IgA欠乏症 溶血性貧血 肝腫大 脾腫

X連鎖劣性遺伝

Hyper IgM Syndrome Type 1 (HIGM-1) is the X-linked variant of the Hyper-IgM syndrome. The affected individuals are virtually always male, because males only have one X chromosome, received from their mothers. Their mothers are not symptomatic, even though they are carriers of the allele, because the trait is recessive. Male offspring of these women have a 50% chance of inheriting their mother's mutant allele.  >> 翻訳 (Google)

62
(70.9%)

adenosine deaminase deficiency
----
重症複合免疫不全, 常染色体劣性, T細胞陰性, B細胞陰性, NK細胞陰性, アデノシンデミナーゼ欠損による

IgA欠乏症 肝腫大 脾腫 自己免疫性溶血性貧血

常染色体劣性遺伝 体細胞モザイク

Severe combined immunodeficiency (SCID) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections.  >> 翻訳 (Google)

62
(70.9%)

immunodeficiency due to CD25 deficiency
----
免疫不全41-リンパ増殖-自己免疫

糖尿病 肝脾腫 脾腫 自己免疫性溶血性貧血

常染色体劣性遺伝

62
(70.9%)

lysinuric protein intolerance
----
リジン蛋白不耐症

肝腫大 脾腫 貧血 高アンモニア血症

常染色体劣性遺伝

Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism.  >> 翻訳 (Google)

62
(70.9%)

autosomal recessive osteopetrosis 5
----
大理石骨病, 常染色体劣性 5 (OPTB5)

低カルシウム血症 肝腫大 脾腫 貧血

常染色体劣性遺伝

Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the OSTM1 gene.  >> 翻訳 (Google)

62
(70.9%)

mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
----
ムコ多糖症プラス症候群

巨大血管性脂肪肝 脾腫 蛋白尿 貧血

常染色体劣性遺伝

62
(70.9%)

mevalonic aciduria
----
メヴァロン酸尿症

変動性脾腫 正球性再生不良性貧血 浮腫 肝トランスアミナーゼ上昇

常染色体劣性遺伝

Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.  >> 翻訳 (Google)

83
(70.8%)

autoinflammation with arthritis and dyskeratosis

IgA 値増加 乾いた皮膚 脾腫 自己免疫性溶血性貧血

常染色体優性遺伝 常染色体劣性遺伝

84
(69.7%)

MIRAGE syndrome
----
MIRAGE 症候群

低血糖 点状出血 脾低形成 貧血

常染色体優性遺伝

An autosomal dominant condition caused by mutation(s) in the SAMD9 gene, encoding sterile alpha motif domain-containing protein 9A. It is a syndromic condition comprising myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital abnormalities, and enteropathy.  >> 翻訳 (Google)

85
(69.6%)

trimethylaminuria (disease)
----
トリメチラミン尿症

トリメチルアミン尿 脾腫 貧血

常染色体劣性遺伝

85
(69.6%)

severe combined immunodeficiency due to LAT deficiency

低ガンマグロブリン血症 溶血性貧血 脾腫

常染色体劣性遺伝

85
(69.6%)

purine nucleoside phosphorylase deficiency
----
Purine nucleoside phosphorylase 欠損症

低尿酸血症 脾腫 自己免疫性溶血性貧血

常染色体劣性遺伝

Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.  >> 翻訳 (Google)

88
(69.3%)

hemolytic uremic syndrome, atypical, susceptibility to, 1
----
溶血性尿毒症症候群, 非典型的への感受性1

分裂赤血球増加症 微小血管症性溶血性貧血 発熱 紫斑

常染色体優性遺伝 常染色体劣性遺伝

89
(68.7%)

hemoglobin H disease
----
ヘモグロビンH病

溶血性貧血 肝腫大 脾腫

Hemoglobin H (HbH) disease is a moderate to severe form of alpha-thalassemia characterized by pronounced microcytic hypochromic hemolytic anemia.  >> 翻訳 (Google)

89
(68.7%)

osteopetrosis, autosomal dominant 3
----
骨大理石症, 常染色体優性3

肝腫大 脾腫 貧血 骨減少症

常染色体優性遺伝

89
(68.7%)

autosomal recessive osteopetrosis 8
----
大理石骨病, 常染色体劣性8

大頭 肝腫大 脾腫 貧血

常染色体劣性遺伝

Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the SNX10 gene.  >> 翻訳 (Google)

89
(68.7%)

autosomal recessive osteopetrosis 4
----
大理石骨病, 常染色体劣性 4

肝脾腫 脾腫 視力障害 貧血

常染色体劣性遺伝

Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the CLCN7 gene.  >> 翻訳 (Google)

89
(68.7%)

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

肝腫大 脾腫 貧血 鼻出血

常染色体劣性遺伝

Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia.  >> 翻訳 (Google)

89
(68.7%)

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

肝腫大 脾腫 貧血 開口障害 (牙関緊急)

常染色体劣性遺伝

Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.  >> 翻訳 (Google)

89
(68.7%)

autoimmune lymphoproliferative syndrome type 3
----
自己免疫性リンパ増殖症候群 III

ネフローゼ症候群 溶血性貧血 肝腫大 脾腫

常染色体劣性遺伝

A rare, primary immunodeficiency. It is caused by a currently undetermined defect in the Fas-induced apoptosis pathway. No mutations in Fas, FASLG or CASP10 are detectable. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma.  >> 翻訳 (Google)

89
(68.7%)

autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
----
好中球減少, 重症先天的, 4, 常染色体劣性

停留精巣 肝腫大 脾腫 貧血

常染色体劣性遺伝

97
(68.1%)

heme oxygenase 1 deficiency
----
Heme oxygenase 1 欠乏症

溶血性貧血 肝腫大 蛋白尿

常染色体劣性遺伝

97
(68.1%)

thanatophoric dysplasia, Glasgow variant
----
致死性異形成, Glasgow バリアント

代謝/ホメオスターシスの異常 肝脾腫 貧血

常染色体劣性遺伝

97
(68.1%)

familial hemophagocytic lymphohistiocytosis 3
----
血球貪食性リンパ組織球症, 家族性, 3 (HPLH3)

発熱 肝脾腫 貧血

常染色体劣性遺伝

Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the UNC13D gene.  >> 翻訳 (Google)

97
(68.1%)

renal tubular acidosis, distal, 4, with hemolytic anemia
----
腎尿細管性アシドーシス, 遠位-溶血性貧血

代謝性アシドーシス 溶血性貧血 肝脾腫

常染色体優性遺伝 常染色体劣性遺伝

Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA) characterized by a defect in renal acidification and hereditary hemolytic anemia.  >> 翻訳 (Google)

97
(68.1%)

autosomal recessive osteopetrosis 3
----
大理石骨病, 常染色体劣性 3 (OPTB3)

肝脾腫 血清酸性フォスファミリーターゼ上昇 貧血

常染色体劣性遺伝

Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis, renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications.  >> 翻訳 (Google)

97
(68.1%)

classic galactosemia
----
ガラクトース血症

代謝性アシドーシス 溶血性貧血 肝硬変 肝腫大

常染色体劣性遺伝

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

97
(68.1%)

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

肝腫大 血清乳酸増加 鉄芽球性貧血

常染色体劣性遺伝

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

97
(68.1%)

severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
----
間質性肺および肝疾患

アシドーシス 肝硬変 肝腫大 貧血

常染色体劣性遺伝

97
(68.1%)

infantile liver failure syndrome 1
----
乳児肝不全症候群性1

乳酸性アシドーシス 肝腫大 脂肪肝 貧血

常染色体劣性遺伝

Any infantile liver failure in which the cause of the disease is a mutation in the LARS gene.  >> 翻訳 (Google)

97
(68.1%)

protein-losing enteropathy (disease)
----
補体過剰活性化-血管症性血栓症-タンパク漏失性腸症

低アルブミン血症 肝腫大 鉄欠乏症貧血

常染色体劣性遺伝

Pathological conditions in the intestines that are characterized by the gastrointestinal loss of serum proteins, including serum albumin; immunoglobulins; and at times lymphocytes. Severe condition can result in hypogammaglobulinemia or lymphopenia. Protein-losing enteropathies are associated with a number of diseases including intestinal lymphangiectasis; whipple'S disease; and neoplasms of the small intestine.  >> 翻訳 (Google)

97
(68.1%)

3-hydroxy-3-methylglutaric aciduria
----
3-hydroxy-3-methylglutaryl-CoA lyase 欠損症

代謝性アシドーシス 肝腫大 貧血

常染色体劣性遺伝

3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae.  >> 翻訳 (Google)

97
(68.1%)

mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
----
ミトコンドリア筋症

小球性貧血 肝腫大 血清乳酸増加

常染色体劣性遺伝

97
(68.1%)

Wilson disease
----
ウィルソン病 (WND; WD)

溶血性貧血 肝硬変 肝腫大 蛋白尿

常染色体劣性遺伝

Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.  >> 翻訳 (Google)

97
(68.1%)

propionic acidemia
----
プロピオン酸血症

代謝性アシドーシス 肝腫大 貧血

常染色体劣性遺伝

Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.  >> 翻訳 (Google)

97
(68.1%)

cytochrome-c oxidase deficiency disease
----
ミトコンドリア複合体 IV欠損症

肝腫大 蛋白尿 貧血

常染色体劣性遺伝 Heterogeneous ミトコンドリア遺伝

A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis.  >> 翻訳 (Google)

97
(68.1%)

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

リンパ性浮腫 大球性貧血 肝硬変 肝腫大

X連鎖遺伝 性別限定常染色体優性

97
(68.1%)

thrombocytopenia-absent radius syndrome
----
血小板減少-橈骨欠損症候群

低ガンマグロブリン血症 肝脾腫 貧血

常染色体劣性遺伝

Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia.  >> 翻訳 (Google)

114
(67.5%)

combined immunodeficiency due to OX40 deficiency
----
免疫不全16

Coombs 陽性溶血性貧血 脾腫

常染色体劣性遺伝

Combined immunodeficiency due to OX40 deficiency is a rare combined T and B cell immunodeficiency characterized by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma.  >> 翻訳 (Google)

115
(67.3%)

vitamin B12-responsive methylmalonic acidemia type cblB
----
メチルマロン酸尿症, cblB 型

メチルマロン酸血症 肝腫大 貧血

常染色体劣性遺伝

An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAB gene, encoding cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial.  >> 翻訳 (Google)

115
(67.3%)

vitamin B12-responsive methylmalonic acidemia type cblA
----
メチルマロン酸尿症 cbIA 型

メチルマロン酸血症 肝腫大 貧血

常染色体劣性遺伝

An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAA gene, encoding MMAA protein.  >> 翻訳 (Google)

117
(67.3%)

autoimmune polyendocrinopathy type 2
----
自己免疫性多内分泌症候群 II 型

II 型糖尿病 無脾症 肝硬変 鉄欠乏症貧血

常染色体優性遺伝 常染色体劣性遺伝 多因子性遺伝

Autoimmune polyglandular syndrome of likely polygenic etiology characterized by the presence of primary adrenal insufficiency in association with autoimmune thyroiditis and/or type 1 diabetes mellitus; this condition is not associated with mucocutaneous candidiasis.  >> 翻訳 (Google)

118
(67.2%)

cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome
----
高マンガン血症-ジストニア1

多血症 肝硬変 肝腫大 高ビリルビン血症

常染色体劣性遺伝

119
(67.2%)

Stormorken syndrome
----
Stormorken 症候群

無脾症 血清 creatine phosphokinase上昇 貧血 魚鱗癬

常染色体優性遺伝

Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. It has been described in six members of one family. It is transmitted as an autosomal dominant trait.  >> 翻訳 (Google)

120
(67.2%)

thrombocytopenia, X-linked, with or without dyserythropoietic anemia
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血小板減少, X連鎖性 +/- 異常造血性貧血

不適切な産生貧血 有棘赤血球増加 点状出血 鼻出血

X連鎖劣性遺伝

An X-linked condition caused by mutation(s) in the GATA1 gene, encoding erythroid transcription factor. It is characterized by thrombocytopenia, as well as abnormal platelet function and morphology. Dyserythropoietic anemia of variable severity may also be present.  >> 翻訳 (Google)