1
(90.1%)

hereditary spherocytosis type 4
----
球状赤血球症4型

溶血性貧血 球状赤血球症 脾腫 高ビリルビン血症 黄疸

常染色体優性遺伝

Any hereditary spherocytosis in which the cause of the disease is a mutation in the SLC4A1 gene.  >> 翻訳 (Google)

1
(90.1%)

hereditary spherocytosis type 2
----
球状赤血球症2型

溶血性貧血 球状赤血球症 脾腫 高ビリルビン血症 黄疸

常染色体優性遺伝

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

1
(90.1%)

hereditary spherocytosis type 1
----
球状赤血球症 1型

溶血性貧血 球状赤血球症 脾腫 高ビリルビン血症 黄疸

常染色体優性遺伝 常染色体劣性遺伝

Any hereditary spherocytosis in which the cause of the disease is a mutation in the ANK1 gene.  >> 翻訳 (Google)

4
(87.7%)

overhydrated hereditary stomatocytosis
----
過剰加水性遺伝性ストマトサイト症

ストマトサイト増多症 溶血性貧血 脾腫 高ビリルビン血症 黄疸

常染色体優性遺伝

Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia.  >> 翻訳 (Google)

4
(87.7%)

dehydrated hereditary stomatocytosis 2
----
脱水性遺伝性ストマトサイト症 2

有棘赤血球増加 溶血性貧血 脾腫 高ビリルビン血症 黄疸

常染色体優性遺伝

Any dehydrated hereditary stomatocytosis in which the cause of the disease is a mutation in the KCNN4 gene.  >> 翻訳 (Google)

4
(87.7%)

anemia, congenital dyserythropoietic, type 1a
----
貧血, 先天性赤血球産生異常性, Ia型

大球性異常造血性貧血 異型赤血球増加症 胎児水腫 脾腫 遷延性新生児黄疸

常染色体劣性遺伝

4
(87.7%)

anemia, nonspherocytic hemolytic, due to G6PD deficiency
----
貧血, 非球状赤血球性溶血性, G6PD 欠乏による

そらまめ誘発性溶血性貧血 異型赤血球増加症 発熱 脾腫 遷延性新生児黄疸

X連鎖劣性遺伝 X連鎖優性遺伝

8
(85.6%)

elliptocytosis 1
----
楕円赤血球症1

楕円赤血球症 溶血性貧血 脾腫 黄疸

常染色体優性遺伝 常染色体劣性遺伝

Any hereditary elliptocytosis in which the cause of the disease is a mutation in the EPB41 gene.  >> 翻訳 (Google)

8
(85.6%)

congenital dyserythropoietic anemia type type 1B
----
貧血, 先天性赤血球産生異常性, Ib型 (CDAN1)

不適切な産生貧血 異型赤血球増加症 脾腫 黄疸

常染色体劣性遺伝

10
(82.9%)

lathosterolosis
----
ラソステロール症

有棘赤血球増加 肝内胆汁うっ滞 肝脾腫 高ビリルビン血症

常染色体劣性遺伝

Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.  >> 翻訳 (Google)

11
(80.6%)

Bernard-Soulier syndrome, type A2, autosomal dominant
----
Bernard-Soulier 症候群, A2 型, 常染色体優性

ストマトサイト増多症 月経痛 溶血性貧血 点状出血 脾腫

常染色体優性遺伝

A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has material basis in heterozygous mutations in the GP1BA gene on chromosome 17p.  >> 翻訳 (Google)

12
(80.2%)

cystic fibrosis-gastritis-megaloblastic anemia syndrome
----
膵嚢胞性線維症- helicobacter pylori 胃炎-巨赤芽球性貧血-知能低下

外分泌性膵不全 巨赤芽球性貧血 胆汁性肝硬変 葉酸欠乏症

常染色体劣性遺伝

A rare genetic disease reported in two siblings of consanguineous Arab parents and is characterized by cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991.  >> 翻訳 (Google)

13
(80.2%)

severe congenital hypochromic anemia with ringed sideroblasts
----
貧血, 低色素性小球性-鉄負荷2

異型赤血球増加症 肝腫大 脾腫 血清フェリチン増加 貧血

常染色体優性遺伝

STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia except for increased erythrocyte protoporphyrin levels.  >> 翻訳 (Google)

13
(80.2%)

sitosterolemia 1
----
シトステロール血症)

エピソード性溶血性貧血 ストマトサイト増多症 肝の異常 脾腫 高コレステロール血症

常染色体劣性遺伝

15
(78.9%)

cryohydrocytosis
----
クリオハイドロサイト症

ストマトサイト増多症 代謝/ホメオスターシスの異常 溶血性貧血 脾腫

常染色体優性遺伝

A rare, hereditary, hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade.  >> 翻訳 (Google)

16
(78.4%)

anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism
----
貧血, 非球状赤血球性溶血性, おそらくポルフィリン代謝異常による

尿中δ-アミノレブリン酸上昇 脾腫 非球状赤血球性溶血性貧血 黄疸

常染色体劣性遺伝

16
(78.4%)

congenital dyserythropoietic anemia type 2
----
貧血, 先天性赤血球産生異常性, II 型

不適切な産生貧血 網状赤血球増多症 脾腫 骨髄染色体検査での内部倍数性 黄疸

常染色体劣性遺伝

Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones.  >> 翻訳 (Google)

16
(78.4%)

hyperbilirubinemia, shunt, primary
----
高ビリルビン血症, シャント, 原発性

不適切な産生貧血 網状赤血球増多症 脾腫 高ビリルビン血症 黄疸

常染色体優性遺伝

16
(78.4%)

hemolytic anemia due to diphosphoglycerate mutase deficiency
----
赤血球増多症, 家族性, 8

代謝/ホメオスターシスの異常 正色素性貧血 脾腫 黄疸

常染色体劣性遺伝

A rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly.  >> 翻訳 (Google)

16
(78.4%)

dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
----
脱水性遺伝性ストマトサイト症 +/- 偽性高カリウム血症 +/- 周生期浮腫)

網状赤血球増多症 脾腫 血清フェリチン増加 運動誘発性溶血 黄疸

常染色体優性遺伝

16
(78.4%)

pyruvate kinase deficiency of red cells
----
ピルビン酸キナーゼ欠損症, 赤血球 (PK)

慢性溶血性貧血 網状赤血球増多症 脾腫 非免疫性胎児水腫 黄疸

常染色体劣性遺伝

Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic anemia.  >> 翻訳 (Google)

16
(78.4%)

non-spherocytic hemolytic anemia due to hexokinase deficiency
----
溶血性貧血, 非球状赤血球性, ヘキソキナーゼ欠損症による

代謝/ホメオスターシスの異常 正色素性貧血 脾腫 黄疸

常染色体劣性遺伝

Nonspherocytic hemolytic anemia due to hexokinase deficiency (NSHA due to HK1 deficiency) is a very rare conditionmainly characterized by severe, chronic hemolysis, beginning in infancy. Approximately 20 cases of this condition have been described to date. Signs and symptoms of hexokinase deficiency are very similar to those of pyruvate kinase deficiency but anemia is generally more severe. Some affected individuals reportedly have had various abnormalities in addition to NSHA including multiple malformations, panmyelopathy, and latent diabetes.Itcan be caused by mutations in the HK1 gene and is inherited in an autosomal recessive manner. Treatment may include red cell transfusions for those with severe anemia.  >> 翻訳 (Google)

16
(78.4%)

sideroblastic anemia 3
----
貧血, 鉄芽球性, 3, ピリドキシン抵抗性

抱合型高ビリルビン血症 脾腫 貧血 黄疸

常染色体劣性遺伝

16
(78.4%)

hemolytic anemia due to glucophosphate isomerase deficiency
----
溶血性貧血, 非球状赤血球性, glucose phosphate isomerase 欠乏による

glucosephosphate isomerase活性の減少 脾腫 非球状赤血球性溶血性貧血 黄疸

常染色体劣性遺伝

Glucosephosphate isomerase (GPI) deficiency is an erythroenzymopathy characterized by chronic nonspherocytic hemolytic anemia.  >> 翻訳 (Google)

16
(78.4%)

sickle cell anemia
----
鎌状赤血球性貧血

溶血性貧血 脾腫 血尿 黄疸

常染色体劣性遺伝

Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur.  >> 翻訳 (Google)

16
(78.4%)

hereditary cryohydrocytosis with reduced stomatin
----
ストマチン欠乏性寒冷水赤血球症-神経障害

溶血性貧血 脾腫 高カリウム血症 黄疸

常染色体優性遺伝

16
(78.4%)

hereditary coproporphyria
----
コプロポルフィリン症 , 遺伝性

代謝/ホメオスターシスの異常 先天性溶血性貧血 脾腫 黄疸

常染色体優性遺伝 常染色体劣性遺伝

Hereditary coproporphyria is a form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions.  >> 翻訳 (Google)

16
(78.4%)

prolidase deficiency
----
プロリダーゼ欠損症

代謝/ホメオスターシスの異常 脾腫 貧血 遷延性新生児黄疸

常染色体劣性遺伝

Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.  >> 翻訳 (Google)

16
(78.4%)

familial hemophagocytic lymphohistiocytosis type 1
----
細網症, 家族性組織球性

脾腫 貧血 高トリグリセリド血症 黄疸

常染色体劣性遺伝

Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome with an onset usually occurring within a few months or less common several years after birth.  >> 翻訳 (Google)

16
(78.4%)

familial hemophagocytic lymphohistiocytosis 2
----
血球貪食性リンパ組織球症, 家族性, 2 (HPLH2)

脾腫 貧血 高トリグリセリド血症 黄疸

常染色体劣性遺伝

Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the PRF1 gene.  >> 翻訳 (Google)

31
(77.5%)

celiac disease, susceptibility to, 1
----
セリアック病への感受性, 1

肝トランスアミナーゼ上昇 葉酸欠乏症 鉄欠乏症貧血

常染色体劣性遺伝 Heterogeneous 多因子性遺伝

32
(77.5%)

red cell phospholipid defect with hemolysis
----
赤血球リン脂質障害, 溶血を伴う

網状赤血球増多症 脾腫 間歇的黄疸 高ビリルビン血症

常染色体優性遺伝

33
(76.8%)

thrombocytopenia, anemia, and myelofibrosis
----
血小板減少-貧血-骨髄線維症

大小不同生奇形赤血球 (Anisopoikilocytosis) 脾腫 貧血

常染色体劣性遺伝

34
(76.6%)

McLeod neuroacanthocytosis syndrome
----
McLeod 症候群

有棘赤血球増加 肝脾腫 血清 creatine phosphokinase上昇

X連鎖遺伝

McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens.  >> 翻訳 (Google)

35
(76.3%)

congenital bile acid synthesis defect 5
----
胆汁酸合成障害, 先天性, 5

脾腫 鉄欠乏症貧血 黄疸

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 ABCD3 gene.  >> 翻訳 (Google)

35
(76.3%)

glycogen storage disease due to aldolase A deficiency
----
糖原病 XII 型

内眼角贅皮 正色素性貧血 脾腫 黄疸

常染色体劣性遺伝

Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggerd by fever) without hemolytic anemia has recently been reported.  >> 翻訳 (Google)

35
(76.3%)

pancreatic insufficiency-anemia-hyperostosis syndrome
----
外分泌膵不全-異常造血性貧血-頭蓋骨骨化過剰症

脾腫 貧血 黄疸 齲歯

常染色体劣性遺伝

This syndrome is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis.  >> 翻訳 (Google)

35
(76.3%)

triosephosphate isomerase deficiency
----
Triosephosphate isomerase欠損症

正色素性貧血 脾腫 視神経杯蒼白 黄疸

常染色体劣性遺伝

Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.  >> 翻訳 (Google)

35
(76.3%)

Niemann-Pick disease type A
----
Niemann- Pick 病 (NPD)

小球性貧血 脾腫 遷延性新生児黄疸 骨粗鬆症

常染色体劣性遺伝

Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders.  >> 翻訳 (Google)

35
(76.3%)

Chediak-Higashi syndrome
----
Chediak-Higashi 症候群

歯肉炎 脾腫 貧血 黄疸

常染色体劣性遺伝

ChC)diak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS) have been described.  >> 翻訳 (Google)

41
(76.2%)

Rh deficiency syndrome
----
Rh ヌル, 調節遺伝子型

ストマトサイト増多症 不抱合型高ビリルビン血症 溶血性貧血 黄疸

常染色体優性遺伝

The Rh deficiency syndrome, also known as Rh-null syndrome, is a blood disorder where people have red blood cells (RBCs) lacking all Rh antigens. The Rh antigens maintain the integrity of the RBC membrane and therefore, RBCs which lack Rh antigens have an abnormal shape. There are two types of Rh deficiency syndrome: The regulator type is associated with many different changes (mutations) in the RHAG gene. The amorph type is caused by inactive copies of a gene (silent alleles) at the RH locus. As a result, the RBCs do not express any of the Rh antigens. The absence of the Rh complex alters the RBC shape, increases its tendency to break down (osmotic fragility), and shortens its lifespan, resulting in a hemolytic anemia that is usually mild. These patients are at risk of having adverse transfusion reactions because they may produce antibodies against several of the Rh antigens and can only receive blood from people who have the same condition. Rh deficiency syndrome is inherited in an autosomal recessive manner. Management is individualized according to the severity of hemolytic anemia.  >> 翻訳 (Google)

41
(76.2%)

congenital thrombotic thrombocytopenic purpura
----
T血栓性血小板減少性紫斑病, 家族性

分裂赤血球増加症 微小血管症性溶血性貧血 蛋白尿 黄疸

常染色体劣性遺伝

Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.  >> 翻訳 (Google)

43
(75.6%)

letterer-Siwe disease
----
Lettere-Siwe 病

発熱 肝脾腫 貧血 黄疸

常染色体劣性遺伝

A multifocal, multisystem form of Langerhans-cell histiocytosis. There is involvement of multiple organ systems including the bones, skin, liver, spleen, and lymph nodes. Patients are usually infants presenting with fever, hepatosplenomegaly, lymphadenopathy, bone and skin lesions, and pancytopenia.  >> 翻訳 (Google)

44
(75.3%)

fibrosis, neurodegeneration, and cerebral angiomatosis
----
線維症-神経変性症-大脳血管腫症

慢性溶血性貧血 斜視 異型赤血球増加症 肝腫大

常染色体劣性遺伝

45
(74.6%)

cutaneous porphyria
----
ポルフィリン症, 先天性骨髄性(造血性)

Pink urine 溶血性貧血 胆石症 脾腫

常染色体劣性遺伝

Congenital erythropoietic porphyria, or Günther disease, is a form of erythropoietic porphyria characterized by very severe and mutilating photodermatosis.  >> 翻訳 (Google)

46
(74.5%)

primary familial polycythemia due to EPO receptor mutation
----
赤血球増多症, 家族性, 1

多血症 脾腫 赤血球容量の増加 高血圧

常染色体優性遺伝

Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels.  >> 翻訳 (Google)

47
(73.5%)

COG6-CGD
----
先天性グリコシル化障害 IIl 型

II 型 transferrin isoform プロフィール 胆汁うっ滞 脾腫 貧血

常染色体劣性遺伝

48
(73.5%)

reticuloendotheliosis, X-linked

肝脾腫 貧血 黄疸

X連鎖遺伝

48
(73.5%)

cyanosis, transient neonatal
----
チアノーゼ, 一過性新生児

肝腫大 貧血 黄疸

常染色体優性遺伝

48
(73.5%)

constitutional megaloblastic anemia with severe neurologic disease
----
巨赤芽球性貧血, dihydrofolate reductase 欠乏による

巨赤芽球性貧血 肝腫大 黄疸

常染色体劣性遺伝

51
(73.3%)

autoimmune lymphoproliferative syndrome type 1
----
自己免疫性リンパ増殖症候群 (ALPS)

リンパ球アポトーシス障害 脾腫 自己免疫性溶血性貧血 蕁麻疹

常染色体優性遺伝

51
(73.3%)

autoimmune lymphoproliferative syndrome type 2A
----
自己免疫性リンパ増殖症候群 II 型 (ALPS2)

リンパ球アポトーシス障害 脾腫 自己免疫性溶血性貧血 蕁麻疹

常染色体優性遺伝

A rare, primary immunodeficiency with an autosomal dominant pattern of inheritance but incomplete penetrance. It is caused by a mutation in the CASP10 (caspase-10) gene that leads to defective Fas-induced apoptosis. 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)

51
(73.3%)

Gaucher disease perinatal lethal
----
Gaucher 病, 周生期致死性

点状出血 脾腫 貧血 非免疫性胎児水腫

常染色体劣性遺伝

Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD).  >> 翻訳 (Google)

51
(73.3%)

vasculitis due to ADA2 deficiency
----
結節性多発動脈炎, 小児期発症

大理石皮膚 発熱 脾腫 貧血

常染色体劣性遺伝

Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency.  >> 翻訳 (Google)

51
(73.3%)

proteasome-associated autoinflammatory syndrome 1
----
Proteasome-関連自己炎症症候群 1

紅斑 脾腫 貧血 高トリグリセリド血症

常染色体劣性遺伝

56
(72.3%)

short-rib thoracic dysplasia 9 with or without polydactyly
----
短肋骨胸郭異形成9 +/- 多指症

ネフロン癆 肝腫大 胆汁うっ滞 貧血

常染色体劣性遺伝

An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13.  >> 翻訳 (Google)

57
(71.5%)

ALG8-CDG
----
先天性グリコシル化異常症 Ih 型 (CDG1H)

肝腫大 胆汁うっ滞 血清トランスフェリンの等電点電気泳動異常 貧血

常染色体劣性遺伝

A form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation.  >> 翻訳 (Google)

58
(71.2%)

beta-thalassemia-X-linked thrombocytopenia syndrome
----
血小板減少-βサラセミア, X連鎖性

溶血性貧血 点状出血 脾腫 鼻出血

X連鎖劣性遺伝

Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia.  >> 翻訳 (Google)

58
(71.2%)

leukocyte adhesion deficiency 3
----
白血球接着欠乏, III 型

点状出血 脾腫 貧血 鼻出血

常染色体劣性遺伝

Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD characterized by both severe bacterial infections and a severe bleeding disorder.  >> 翻訳 (Google)

58
(71.2%)

transaldolase deficiency
----
トランスアルドラーゼ欠損症

幅広い口 毛細血管拡張 脾腫 貧血

常染色体劣性遺伝

Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.  >> 翻訳 (Google)

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)