1
(90.1%)

Hereditary spherocytosis
----
遺伝性球状赤血球症

溶血性貧血 球状赤血球症 糖尿病 脾腫 黄疸

Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis.  >> 翻訳 (Google)

1
(90.1%)

Sickle cell anemia
----
鎌状赤血球性貧血

溶血性貧血 球状赤血球症 脾腫 蛋白尿 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)

3
(87.7%)

Hemolytic anemia due to red cell pyruvate kinase deficiency

異型赤血球増加症 胎児水腫 脾腫 貧血 遷延性新生児黄疸

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)

3
(87.7%)

Hereditary elliptocytosis
----
遺伝性楕円赤血球症

楕円赤血球症 溶血性貧血 胎児水腫 脾腫 黄疸

Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic.  >> 翻訳 (Google)

3
(87.7%)

Alpha-thalassemia
----
αサラセミア

有棘赤血球増加 溶血性貧血 胎児水腫 脾腫 黄疸

常染色体優性遺伝 常染色体劣性遺伝

An inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles.  >> 翻訳 (Google)

3
(87.7%)

Beta-thalassemia
----
βサラセミア

有棘赤血球増加 溶血性貧血 脾腫 蛋白尿 黄疸

Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb).  >> 翻訳 (Google)

3
(87.7%)

Graft versus host disease
----
移植片対宿主拒絶反応

分裂赤血球増加症 脾腫 蛋白尿 貧血 黄疸

A rare disease that occurs after allogeneic hematopoietic stem cell transplant and is a reaction of donor immune cells against host tissues. Activated donor T cells damage host epithelial cells after an inflammatory cascade that begins with the preparative regimen.  >> 翻訳 (Google)

8
(86.8%)

Polycythemia vera
----
真性多血症 (PRV)

多血症 楕円赤血球症 溶血性貧血 脾腫 蛋白尿

常染色体優性遺伝 体細胞突然変 孤発性

Polycythemia vera (PV) is an acquired myeloproliferative disorder characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production, frequently associated with uncontrolled white blood cell and platelet production.  >> 翻訳 (Google)

9
(85.0%)

Glucagonoma
----
グルカゴン産生腫瘍

有棘赤血球増加 正色素性貧血 糖尿病 肝脾腫 間歇的黄疸

Glucagonoma is a rare, functioning type of pancreatic neuroendocrine tumor (PNET; see this term) that hypersecretes glucagon, leading to a syndrome comprised of necrolytic migratory erythema, diabetes mellitus, anemia, weight loss, mucosal abnormalities, thromboembolism, gastrointestinal and neuropsychiatric symptoms.  >> 翻訳 (Google)

10
(84.1%)

Dubin-Johnson syndrome
----
Dubin-Johnson 症候群

有棘赤血球増加 発熱 肝腫大 黄疸

常染色体劣性遺伝

Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells.  >> 翻訳 (Google)

11
(83.4%)

Neuroblastoma
----
神経芽細胞腫

メチルマロン酸血症 溶血性貧血 球状赤血球症 脾腫 黄疸

Neuroblastoma is a malignant tumor of neural crest cells, the cells that give rise to the sympathetic nervous system, which is observed in children.  >> 翻訳 (Google)

12
(82.7%)

Refractory anemia
----
不応性貧血

アシドーシス 分裂赤血球増加症 正色素性貧血 紫斑 脾腫

Refractory cytopenias with unilineage dysplasia (RCUD) is a frequent low-risk subtype of myelodysplastic syndrome (MDS; see this term) characterized by refractory cytopenias associated with dysplasia limited to one cell lineage.  >> 翻訳 (Google)

12
(82.7%)

Primary myelofibrosis
----
原発性骨髄線維症

楕円赤血球症 溶血性貧血 点状出血 脾腫 蛋白尿

体細胞突然変

A rare myeloproliferative neoplasm characterized by stem-cell derived clonal over proliferation of mature myeloid lineages, such as erythrocytes, leukocytes, and megakaryocytes, with variable degrees of megakaryocyte atypia, associated with reticulin and/or collagen bone marrow fibrosis, osteosclerosis, ineffective erythropoiesis, angiogenesis, extramedullary hematopoiesis, and abnormal cytokine expression.  >> 翻訳 (Google)

14
(80.8%)

Lathosterolosis
----
ラソステロール症

大小不同生奇形赤血球 (Anisopoikilocytosis) 肝腫大 胆汁うっ滞 馬蹄腎

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)

15
(80.5%)

Short fifth metacarpals-insulin resistance syndrome

球状赤血球症 脾腫 高インスリン血症

Short fifth metacarpals-insulin resistance syndrome is characterised by bilateral shortening of the fifth fingers and fifth metacarpals. It has been described in several members of one family. Some members of the family also had spherocytosis and insulin resistance. Transmission is autosomal dominant.  >> 翻訳 (Google)

16
(80.4%)

8p11.2 deletion syndrome

仙骨部陥凹 溶血性貧血 無精子症 球状赤血球症 脾腫

8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism.  >> 翻訳 (Google)

17
(80.2%)

Sitosterolemia
----
シトステロール血症)

ストマトサイト増多症 発熱 肝硬変 脾腫 貧血

常染色体劣性遺伝

Sitosterolemia is a rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes.  >> 翻訳 (Google)

17
(80.2%)

Acute panmyelosis with myelofibrosis

異型赤血球増加症 肝脾腫 脾腫 貧血 高カルシウム血症

17
(80.2%)

Tangier disease
----
HDL 欠損症, Tangier 型1 (HDLDT1)

ストマトサイト増多症 糖尿病 肝脾腫 脾腫 貧血

常染色体優性遺伝 常染色体劣性遺伝

Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults.  >> 翻訳 (Google)

20
(79.9%)

Retinitis pigmentosa
----
色素性網膜炎

有棘赤血球増加 毛細血管拡張 肝脾腫 蛋白尿 貧血

常染色体優性遺伝 常染色体劣性遺伝 X連鎖劣性遺伝 ミトコンドリア遺伝

Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.  >> 翻訳 (Google)

21
(79.5%)

Hemophilia B
----
血友病 B

有棘赤血球増加 脾破裂 血尿 血性胆汁

X連鎖劣性遺伝

Hemophilia B is a form of hemophilia (see this term) characterized by spontaneous or prolonged hemorrhages due to factor IX deficiency.  >> 翻訳 (Google)

22
(79.4%)

Choreoacanthocytosis
----
舞踏病有棘赤血球症

尿平衡異常 有棘赤血球増加 肝腫大 脾腫 赤血球の異常

常染色体劣性遺伝

Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances.  >> 翻訳 (Google)

23
(78.4%)

Chronic granulomatous disease
----
慢性肉芽腫症

Abnormal metabolism 有棘赤血球増加 溶血性貧血 胆嚢炎 脾腫

Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas.  >> 翻訳 (Google)

24
(78.4%)

Autoimmune hemolytic anemia, warm type

発熱 脾腫 自己免疫性溶血性貧血 黄疸

Warm autoimmune hemolytic anemia is the most common form of autoimmune hemolytic anemia (see this term) defined by the presence of warm autoantibodies against red blood cells (autoantibodies that are active at temperatures between 37-40°C).  >> 翻訳 (Google)

24
(78.4%)

Neonatal lupus erythematosus
----
新生児エリテマトーデス

発熱 脾腫 貧血 黄疸

24
(78.4%)

Farber disease
----
Farber 脂肪肉芽腫症

小球性貧血 脾腫 関節腫脹 黄疸

常染色体劣性遺伝

A subcutaneous tissue disease 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)

24
(78.4%)

Hemophagocytic syndrome associated with an infection

発熱 脾腫 貧血 黄疸

24
(78.4%)

Cold agglutinin disease
----
寒冷凝集素症

溶血性貧血 発熱 脾腫 黄疸

Cold agglutinin disease is a type of autoimmune hemolytic anemia (see this term) defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30°C).  >> 翻訳 (Google)

24
(78.4%)

Congenital rubella syndrome
----
先天性風疹症候群

糖尿病 脾腫 貧血 黄疸

Congenital rubella syndrome (CRS) is an infectious embryofetopathy that may present in an infant as a result of maternal infection and subsequent fetal infection with rubella virus. CRS can lead to deafness, cataract, and variety of other permanent manifestations including cardiac and neurological defects.  >> 翻訳 (Google)

24
(78.4%)

Babesiosis
----
バベシア症

溶血性貧血 発熱 脾腫 黄疸

Babesiosis is an infectious disease caused by protozoa of the genus Babesia and characterized by a febrile illness and hemolytic anemia but with manifestations ranging from an asymptomatic infection to a fulminating illness that can result in death.  >> 翻訳 (Google)

24
(78.4%)

Castleman disease
----
キャッスルマン病

脾腫 血尿 鉄欠乏症貧血 黄疸

Castleman disease (CD) is a benign lymphoproliferative disorder that may present as a localized or multicentric form (see these terms). The clinical manifestations are heterogeneous, ranging from asymptomatic discrete lymphadenopathy to recurrent episodes of diffuse lymphadenopathy with severe systemic symptoms.  >> 翻訳 (Google)

24
(78.4%)

Dermatitis herpetiformis
----
疱疹状皮膚炎

糖尿病 脾腫 鉄欠乏症貧血 黄疸

A chronic autoimmune subepidermal bullous disease characterized by grouped pruritic lesions such as papules, urticarial plaques, erythema, and herpetiform vesiculae, with a predominantly symmetrical distribution on extensor surfaces of the elbows (90%), knees (30%), shoulders, buttocks, sacral region, and face of children and adults. Erosions, excoriations and hyperpigmentation usually follow. It may also appear as a consequence of gluten intolerance.  >> 翻訳 (Google)

24
(78.4%)

Evans syndrome
----
エヴァンス症候群

溶血性貧血 脾腫 蛋白尿 黄疸

A rare chronic hematologic disorder characterized by the simultaneous or sequential association of autoimmune hemolytic anemia (AIHA; a disorder in which auto-antibodies are directed against red blood cells causing anemia of varying degrees of severity) with immune thrombocytopenic purpura (ITP; a coagulation disorder in which auto-antibodies are directed against platelets causing hemorrhagic episodes) and occasionally autoimmune neutropenia, in the absence of a known underlying etiology.  >> 翻訳 (Google)

24
(78.4%)

Eosinophilic gastroenteritis
----
好酸球性胃腸炎

糖尿病 脾腫 鉄欠乏症貧血 黄疸

A rare benign gastrointestinal disease characterized by the presence of abnormal and nonspecific gastro-intestinal (GI) manifestations, associated with an eosinophilic infiltration of the GI tract, which can affect several segments and involve several layers within the GI wall.  >> 翻訳 (Google)

24
(78.4%)

Q fever
----
Q熱

再生不良性貧血 発熱 脾腫 黄疸

Q fever, caused by Coxiella burnetii, is a bacterial zoonosis with a wide clinical spectrum that can be life-threatening and, in some cases, can become chronic.  >> 翻訳 (Google)

24
(78.4%)

Wilson disease
----
ウィルソン病

溶血性貧血 脾腫 蛋白尿 黄疸

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)

24
(78.4%)

Myeloid sarcoma
----
骨髄肉腫

発熱 脾腫 鉄欠乏症貧血 黄疸

Myeloid sarcoma is a rare solid tumor of the myelogenous cells occurring in an extramedullary site.  >> 翻訳 (Google)

24
(78.4%)

Familial Mediterranean fever
----
家族性地中海熱 (MEFV; MEF; FMF)

脾腫 蛋白尿 貧血 黄疸

Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles.  >> 翻訳 (Google)

24
(78.4%)

Idiopathic hypereosinophilic syndrome
----
特発性好酸球増多症候群

糖尿病 脾腫 貧血 黄疸

体細胞突然変 孤発性

24
(78.4%)

Budd-Chiari syndrome
----
Budd-Chiari 症候群

脾腫 蛋白尿 貧血 黄疸

多因子性遺伝

Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava.  >> 翻訳 (Google)