697
(42.9%)

platelet-type bleeding disorder 9
----
出血性疾患, 血小板型, 9

出血傾向

常染色体優性遺伝

Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ITGA2 gene.  >> 翻訳 (Google)

697
(42.9%)

epidermodysplasia verruciformis, susceptibility to, 4
----
疣贅様表皮異形成 4

Burkitt lymphoma 顔面紅斑

常染色体劣性遺伝

697
(42.9%)

Eosinophilopenia
----
好酸球減少

蕁麻疹 血液および血液痙性組織の異常

697
(42.9%)

alpha-2-plasmin inhibitor deficiency
----
α-2-プラスミン抑制因子欠乏症

出血傾向

常染色体劣性遺伝

Congenital alpha2 antiplasmin deficiency is a rare hemorrhagic disorder caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes (often in unusual locations like diaphysis of long bones). Congenital alpha2 antiplasmin deficiency is inherited in an autosomal recessive manner.  >> 翻訳 (Google)

697
(42.9%)

factors VIII, IX and XI, combined deficiency of
----
第VIII因子および第IX因子, 第XI因子混合性欠損症 (FMFD V)

出血傾向

常染色体優性遺伝

697
(42.9%)

primary release disorder of platelets
----
原発性血小板遊離障害

出血傾向 月経痛

常染色体優性遺伝

697
(42.9%)

bleeding diathesis due to thromboxane synthesis deficiency
----
出血性疾患, 血小板型, 13, への感受性

出血傾向 鼻出血

常染色体優性遺伝

697
(42.9%)

orthostatic hypotensive disorder, Streeten type
----
起立性低血圧, Streeten 型

出血傾向

常染色体優性遺伝

697
(42.9%)

platelet-type bleeding disorder 20
----
出血性疾患, 血小板型, 20

出血傾向 月経痛

常染色体優性遺伝

Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the SLFN14 gene.  >> 翻訳 (Google)

697
(42.9%)

plasma clot retraction factor, deficiency of
----
血漿血餅退縮因子欠損症

出血傾向

常染色体劣性遺伝

697
(42.9%)

factor XIII, b subunit, deficiency of
----
第 XIII 因子サブユニットB欠損症

出血傾向

常染色体劣性遺伝

697
(42.9%)

platelet-type bleeding disorder 8
----
出血性疾患, 血小板性, 8

出血傾向 鼻出血

常染色体劣性遺伝

P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate.  >> 翻訳 (Google)

697
(42.9%)

Passovoy factor defect

出血傾向 月経痛

常染色体優性遺伝

697
(42.9%)

von Willebrand disease 2
----
von Willebrand 病2型

出血傾向 月経痛

常染色体優性遺伝 常染色体劣性遺伝

Type 2 von Willebrand disease (type 2 VWD) is a form of VWD characterized by a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (von Willebrand factor; VWF).  >> 翻訳 (Google)

697
(42.9%)

purpura simplex
----
単純性紫斑

出血傾向 月経痛

常染色体優性遺伝

697
(42.9%)

complement component 4a deficiency
----
補体成分4A欠乏症

糸球体腎炎 紫斑

常染色体劣性遺伝

Any classic complement early component deficiency in which the cause of the disease is a mutation in the C4A gene.  >> 翻訳 (Google)

697
(42.9%)

cerebral cavernous malformation 2
----
大脳海綿状血管腫奇形 2

大脳出血 毛細血管拡張

常染色体優性遺伝 Heterogeneous

Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the CCM2 gene.  >> 翻訳 (Google)

697
(42.9%)

Quebec platelet disorder
----
ケベック血小板病

出血傾向 月経痛

常染色体優性遺伝

Quebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds.  >> 翻訳 (Google)

697
(42.9%)

platelet-type bleeding disorder 12
----
出血性疾患, 血小板型, 12

出血傾向 月経痛

常染色体優性遺伝

An inherited blood coagulation disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity.  >> 翻訳 (Google)

697
(42.9%)

platelet-type bleeding disorder 11
----
出血性疾患, 血小板型, 11

出血傾向 月経痛

常染色体劣性遺伝

Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the GP6 gene.  >> 翻訳 (Google)

697
(42.9%)

Hermansky-Pudlak syndrome 3
----
Hermansky-Pudlak 症候群3

出血傾向 視力障害

常染色体劣性遺伝

Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS3 gene.  >> 翻訳 (Google)

697
(42.9%)

hemophilia A
----
血友病 A

出血傾向

常染色体優性遺伝 X連鎖劣性遺伝

Hemophilia A is the most common form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency.  >> 翻訳 (Google)

697
(42.9%)

Ehlers-Danlos syndrome, fibronectinemic type
----
Ehlers-Danlos 症候群-フィブロネクチン異常による血小板機能障害

点状出血 薄い皮膚

常染色体劣性遺伝

Ehlers-Danlos syndromes (EDS) form a heterogeneous group of inherited connective tissue disorders characterized by variable joint hypermobility and cutaneous hyperextensibility. Type X is distinguished by platelet dysfunction associated with a fibronectin abnormality. Type X EDS has been described in only one family so far. Age of onset is about 13-25 years. Transmission is autosomal recessive.  >> 翻訳 (Google)

697
(42.9%)

vitamin K-dependent clotting factors, combined deficiency of, type 1
----
ビタミンK依存性凝固, 混合性欠乏症1

出血傾向 鼻出血

常染色体劣性遺伝

Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z.  >> 翻訳 (Google)

697
(42.9%)

factor XIII, A subunit, deficiency of
----
第 XIII 因子サブユニットB欠損症

出血傾向 鼻出血

常染色体劣性遺伝

697
(42.9%)

inflammatory skin and bowel disease, neonatal, 1

好酸球増多症 眼瞼炎 紅斑

常染色体劣性遺伝

Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the ADAM17 gene.  >> 翻訳 (Google)

697
(42.9%)

congenital factor V deficiency
----
第V因子欠損

出血傾向 月経痛

常染色体劣性遺伝

Congenital factor V deficiency is an inherited bleeding disorder due to reduced plasma levels of factor V (FV) and characterized by mild to severe bleeding symptoms.  >> 翻訳 (Google)

697
(42.9%)

hemophilia A with vascular abnormality
----
血友病 A-血管異常

出血傾向

X連鎖遺伝

697
(42.9%)

Hermansky-Pudlak syndrome 7
----
Hermansky-Pudlak 症候群 7

出血傾向 鼻出血

常染色体劣性遺伝

Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the DTNBP1 gene.  >> 翻訳 (Google)

697
(42.9%)

Ehlers-Danlos syndrome, periodontal type 2
----
Ehlers-Danlos 症候群, 歯周病型2

出血傾向 歯肉出血 鼠径ヘルニア

常染色体優性遺伝

697
(42.9%)

thrombophilia due to protein S deficiency, autosomal recessive
----
血栓嗜好症, proteins S 欠乏性, 常染色体劣性

盲 紫斑

常染色体劣性遺伝

697
(42.9%)

retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome
----
血管ヒアリン沈着症

多形皮膚萎縮症 (ポイキロデルマ) クモ膜下出血 早発性毛髪白髪

常染色体劣性遺伝

Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome is characterized by progressive hyalinosis involving capillaries and often arterioles and small veins of the digestive tract, kidneys, and idiopathic cerebral calcifications. It has been described in three sisters born to non-consanguineous parents. All three patients also had poikilodermia and greying hair, as well as severe diarrhoea, rectal bleeding, malabsorption and subarachnoid hemorrhage.  >> 翻訳 (Google)

697
(42.9%)

Glanzmann thrombasthenia 1
----
Glenzmann 血小板無力症

出血傾向 月経痛

常染色体劣性遺伝

A bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia  >> 翻訳 (Google)

697
(42.9%)

congenital prothrombin deficiency
----
プロトロンビン欠乏症, 先天性

出血傾向 月経痛

常染色体劣性遺伝

Congenital factor II deficiency is an inherited bleeding disorder due to reduced activity of factor II (FII, prothrombin) and characterized by mucocutaneous bleeding symptoms.  >> 翻訳 (Google)

697
(42.9%)

thrombophilia due to protein C deficiency, autosomal recessive
----
血栓症, 遺伝性, protein C 欠損による, 常染色体劣性

紫斑

常染色体劣性遺伝

697
(42.9%)

Bernard-Soulier syndrome
----
Bernard-Soulier 症候群 (BSS)

月経痛 紫斑

常染色体劣性遺伝

Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency, macrothrombocytopenia and absent ristocetin-induced platelet agglutination.  >> 翻訳 (Google)

697
(42.9%)

von Willebrand disease 3
----
von Willebrand 病 3 型

出血傾向 月経痛

常染色体劣性遺伝

Type 3 von Willebrand disease (type 3 VWD) is the most severe form of VWD characterized by a bleeding disorder associated with a total or near-total absence of Willebrand factor (von Willebrand factor; VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII).  >> 翻訳 (Google)

697
(42.9%)

Hermansky-Pudlak syndrome 4
----
Hermansky-Pudlak 症候群4

出血傾向 月経痛

常染色体劣性遺伝

Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS4 gene.  >> 翻訳 (Google)

697
(42.9%)

Hermansky-Pudlak syndrome 5
----
Hermansky-Pudlak 症候群5

出血傾向 月経痛

常染色体劣性遺伝

Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS5 gene.  >> 翻訳 (Google)

697
(42.9%)

hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

出血傾向 鼻出血

常染色体優性遺伝

This is an autosomal dominant disorder caused by mutations in the RUNX1 gene and is characterized by mild to moderate thrombocytopenia, platelet functional and/or ultrastructural defects and a predisposition to hematologic malignancies, most often AML and MDS, and less frequently T-ALL.  >> 翻訳 (Google)

697
(42.9%)

Ehlers-Danlos syndrome, cardiac valvular type
----
Ehlers-Danlos 症候群, 心血管型

出血傾向 鼠径ヘルニア

常染色体劣性遺伝

Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and cardiac valvular defects comprising mitral and/or aortic valve insufficiency.  >> 翻訳 (Google)

697
(42.9%)

pulmonary hypertension, primary, 1
----
肺高血圧, 原発性 (PPH1)

毛細血管拡張 異常な血栓症 高血圧

常染色体優性遺伝

Any primary pulmonary hypertension in which the cause of the disease is a mutation in the BMPR2 gene.  >> 翻訳 (Google)

697
(42.9%)

platelet-type bleeding disorder 17
----
出血性疾患, 血小板型, 17

点状出血 鼻出血

常染色体優性遺伝 常染色体劣性遺伝

An autosomal dominant condition caused by mutation(s) in the GFI1B gene, encoding zinc finger protein Gfi-1b. It is characterized by a tendency for increased bleeding due to abnormal platelet function.  >> 翻訳 (Google)

697
(42.9%)

radioulnar synostosis with amegakaryocytic thrombocytopenia 1
----
橈尺骨癒合症-無巨核芽球性血小板減少1

感音難聴 点状出血

常染色体優性遺伝

Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the HOXA11 gene.  >> 翻訳 (Google)

697
(42.9%)

osteogenesis imperfecta type 1
----
骨形成不全症 I 型

出血傾向 耳硬化症

常染色体優性遺伝

Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures.  >> 翻訳 (Google)

697
(42.9%)

Ehlers-Danlos syndrome, classic type, 2
----
Ehlers-Danlos 症候群, 古典型, 2

内眼角贅皮 出血傾向

常染色体優性遺伝

Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A2 gene.  >> 翻訳 (Google)

697
(42.9%)

von Willebrand disease 1
----
von Willebrand 病 1 型

出血傾向 月経痛 泌尿生殖器異常 胃腸血管異形成

常染色体優性遺伝

Type 1 von Willebrand disease (type 1 VWD) is a form of VWD characterized by a bleeding disorder associated with a partial quantitative plasmatic deficiency of an otherwise structurally and functionally normal Willebrand factor (von Willebrand factor; VWF).  >> 翻訳 (Google)

697
(42.9%)

Hermansky-Pudlak syndrome 6
----
Hermansky-Pudlak 症候群6

出血傾向 鼻出血

常染色体劣性遺伝

Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS6 gene.  >> 翻訳 (Google)

697
(42.9%)

Ehlers-Danlos syndrome due to tenascin-X deficiency
----
Ehlers-Danlos 症候群, 古典型様

出血傾向 性別不明の外性器, 女性

常染色体劣性遺伝

697
(42.9%)

DNA ligase IV deficiency
----
LIG4 症候群

停留精巣 毛細血管拡張 皮膚光線過敏症 血小板減少

常染色体劣性遺伝

LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).  >> 翻訳 (Google)

697
(42.9%)

Ehlers-Danlos syndrome, arthrochalasis type
----
Ehlers-Danlos 症候群, 関節弛緩型, 1

出血傾向 平坦な頬

常染色体優性遺伝

Arthrochalasia Ehlers-Danlos syndrome (aEDS) is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include severe joint hypermobility ; congenital hip dislocation; fragile, hyperextensible skin; hypotonia ; and kyphoscoliosis (kyphosis and scoliosis). EDS, arthrochalasia type is caused by changes (mutations) in the COL1A1 gene or the COL1A2 gene and is inherited in an autosomal dominant manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.  >> 翻訳 (Google)

697
(42.9%)

Hermansky-Pudlak syndrome 8
----
Hermansky-Pudlak 症候群 8

出血傾向 月経痛

常染色体劣性遺伝

Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S3 gene.  >> 翻訳 (Google)

697
(42.9%)

ehlers-danlos syndrome, arthrochalasia type, 2
----
Ehlers-Danlos 症候群, 関節弛緩型, 2

出血傾向 膀胱憩室

常染色体優性遺伝

697
(42.9%)

Ehlers-Danlos syndrome, periodontal type 1
----
Ehlers-Danlos 症候群, 歯周病型, 1

出血傾向 歯肉出血 鼠径ヘルニア

常染色体優性遺伝

697
(42.9%)

pigmented nodular adrenocortical disease, primary, 2
----
色素性結節性副腎皮質疾患, 原発性, 2

丸い顔 出血傾向

常染色体優性遺伝

Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE11A gene.  >> 翻訳 (Google)

697
(42.9%)

pigmented nodular adrenocortical disease, primary, 1
----
色素性結節性副腎皮質疾患, 原発性, 1

丸い顔 出血傾向

常染色体優性遺伝

Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PRKAR1A gene.  >> 翻訳 (Google)

697
(42.9%)

diaphyseal medullary stenosis-bone malignancy syndrome
----
骨幹髄腔狭窄-悪性組織球腫 (DMSMFH)

出血傾向 骨減少症

常染色体優性遺伝

Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma).  >> 翻訳 (Google)

697
(42.9%)

Hermansky-Pudlak syndrome 1
----
Hermansky-Pudlak 症候群1

出血傾向 歯肉出血 腎不全

常染色体劣性遺伝 Heterogeneous

Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS1 gene.  >> 翻訳 (Google)

697
(42.9%)

Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
----
Ehlers-Danlos 症候群, 後側弯型, 2

出血傾向 膀胱憩室

常染色体劣性遺伝

Ehlers-Danlos syndrome, kyphoscoliotic and deafness type is a form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment.  >> 翻訳 (Google)

697
(42.9%)

ACTH-independent macronodular adrenal hyperplasia 1
----
(Corticotropin-independent macronodular adrenal hyperplasia)常染色体劣性

丸い顔 出血傾向

体細胞突然変 孤発性

697
(42.9%)

ehlers-danlos syndrome, classic-like, 2
----
Ehlers-Danlos 症候群, 古典型様, 2

出血傾向 鼠径ヘルニア

常染色体劣性遺伝

697
(42.9%)

microcephalic osteodysplastic dysplasia, Saul-Wilson type
----
Saul-Wilson 症候群

好中球減少症 幅広い大泉門 目立つ表面静脈

常染色体優性遺伝

A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has material basis in heterozygous mutation in COG4 on chromosome 16q22.1.  >> 翻訳 (Google)

697
(42.9%)

progeroid and marfanoid aspect-lipodystrophy syndrome
----
Marfan リポジストロフィー症候群

出血傾向 高身長

常染色体優性遺伝

697
(42.9%)

moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
----
モヤモヤ病4-低身長-高ゴナドトロピン性性腺機能低下症

大脳出血 早発性毛髪白髪 無精子症

X連鎖劣性遺伝

Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism.  >> 翻訳 (Google)

697
(42.9%)

megalencephaly-capillary malformation-polymicrogyria syndrome
----
巨脳症-毛細血管奇形-多小脳回症候群

大理石皮膚 水頭症 白血病

体細胞突然変 孤発性

Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.  >> 翻訳 (Google)

697
(42.9%)

craniofaciofrontodigital syndrome
----
頭蓋顔心骨格異形成

Ecchymosis 大頭 掌蹠弛緩性皮膚

常染色体優性遺伝 孤発性

Craniofaciofrontodigital is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies).  >> 翻訳 (Google)

697
(42.9%)

connective tissue disorder due to lysyl hydroxylase-3 deficiency
----
骨脆弱性-関節拘縮-動脈破裂-難聴

出血傾向 平坦な頬

常染色体劣性遺伝

Connective tissue disorder due to lysyl hydroxylase-3 deficiency is a rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features.  >> 翻訳 (Google)

697
(42.9%)

Loeys-Dietz syndrome 4
----
Loey-Dietz 症候群4型

出血傾向 鼠径ヘルニア

常染色体優性遺伝

Any Loeys-Dietz syndrome in which the cause of the disease is a mutation in the TGFB2 gene.  >> 翻訳 (Google)

697
(42.9%)

polymicrogyria with or without vascular-type ehlers-danlos syndrome

出血傾向 薄い唇紅部縁

常染色体劣性遺伝

697
(42.9%)

Ehlers-Danlos syndrome, classic type, 1
----
Ehlers-Danlos 症候群, 古典型

出血傾向 鼠径ヘルニア

常染色体優性遺伝

Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A1 gene.  >> 翻訳 (Google)

697
(42.9%)

arterial tortuosity syndrome
----
動脈蛇行症候群

出血傾向 鼠径ヘルニア

常染色体劣性遺伝

Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.  >> 翻訳 (Google)

697
(42.9%)

Ehlers-Danlos syndrome, spondylocheirodysplastic type
----
Ehlers-Danlos 症候群, 脊椎異形成3型

二分した口蓋垂 出血傾向

常染色体劣性遺伝

Ehlers-Danlos syndrome, spondylocheirodysplastic type is a subtype of Ehlers-Danlos syndrome characterized by skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers.  >> 翻訳 (Google)

697
(42.9%)

occipital horn syndrome
----
後頭角症候群

出血傾向 膀胱憩室

X連鎖劣性遺伝

Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect.  >> 翻訳 (Google)

697
(42.9%)

incontinentia pigmenti
----
色素失調症

小頭 紅斑 網膜出血 網膜血管増殖

X連鎖優性遺伝

Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS).  >> 翻訳 (Google)

697
(42.9%)

autosomal dominant Ehlers-Danlos syndrome, vascular type
----
Ehlers-Danlos 症候群, 血管型

出血傾向 鼠径ヘルニア

常染色体優性遺伝

The autosomal dominant form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported.  >> 翻訳 (Google)

697
(42.9%)

Rienhoff syndrome
----
Loeys-Dietz 症候群 5

出血傾向 鼠径ヘルニア

常染色体優性遺伝

Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS, no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection.  >> 翻訳 (Google)

697
(42.9%)

aneurysm-osteoarthritis syndrome
----
Loeys-Dietz 症候群3型

出血傾向 鼠径ヘルニア

常染色体優性遺伝

697
(42.9%)

Ehlers-Danlos syndrome, musculocontractural type 1
----
Ehlers-Danlos 症候群, 筋拘縮型 1

停留精巣 出血傾向

常染色体劣性遺伝

779
(42.6%)

cardiac-urogenital syndrome
----
心泌尿生殖器症候群

Hepatopulmonary fusion 停留精巣 副脾

常染色体優性遺伝

779
(42.6%)

Schinzel-Giedion syndrome
----
Schinzel-Giedion 顔面中部後退症候群

Splenopancreatic fusion 肝芽腫 陰嚢低形成

常染色体優性遺伝

Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies.  >> 翻訳 (Google)

781
(42.6%)

branchiooculofacial syndrome
----
鰓弓-眼-顔症候群

停留精巣 内臓重複 早発性毛髪白髪

常染色体優性遺伝

Branchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth.  >> 翻訳 (Google)

782
(42.5%)

Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
----
16p13.3 欠失症候群

多脾症 皮脂母斑 腎異常

体細胞モザイク 常染色体優性連続遺伝子症候群

Chromosome 16p13.3deletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated p13.3. Although once thought to be a severe form of Rubinstein-Taybi syndrome, it is now emerging as a unique syndrome. Signs and symptoms may include failure to thrive, hypotonia (reduced muscle tone), short stature, microcephaly (unusually small head), characteristic facial features, mild to moderate intellectual disability, organ anomalies (i.e. heart and/or kidney problems), and vulnerability to infections. Chromosome testing of both parents can provide information about whether the deletion was inherited. In most cases, parents do not have any chromosome abnormalities. However, sometimes one parent has a balanced translocation where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause signs or symptoms, but it increases the risk for having a child with a chromosome abnormality like a deletion. Treatment is based on the signs and symptoms present in each person.To learn more about chromosome abnormalities in general, view our GARD fact sheet on Chromosome Disorders.  >> 翻訳 (Google)

782
(42.5%)

RAB23-related Carpenter syndrome
----
Carpenter 症候群1

仙骨部陥凹 停留精巣 多脾症

常染色体劣性遺伝

Any Carpenter syndrome in which the cause of the disease is a mutation in the RAB23 gene.  >> 翻訳 (Google)

784
(42.4%)

malignant atrophic papulosis

丘疹 卒中 胃腸出血 胸膜滲出液

常染色体優性遺伝

Malignant atrophic papulosis (MAP) is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-white atrophy and a surrounding teleangiectatic rim. Systemic lesions may affect the gastrointestinal tract and the central nervous system (CNS) and are potentially lethal.  >> 翻訳 (Google)

784
(42.4%)

pheochromocytoma-islet cell tumor syndrome
----
褐色細胞腫--島細胞腫瘍症候群

カフェオーレ斑 大脳出血 蛋白尿 高血圧性網膜症

常染色体優性遺伝

784
(42.4%)

phaeochromocytoma

カフェオーレ斑 大脳出血 蛋白尿 血管腫

常染色体優性遺伝

784
(42.4%)

Menkes disease
----
Menkes 病

低体温 弛緩性皮膚 頭蓋内出血

X連鎖劣性遺伝

Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.  >> 翻訳 (Google)

784
(42.4%)

autosomal recessive inherited pseudoxanthoma elasticum
----
弾性線維性仮性黄色腫

Peau d'orange メラニン増加性斑 卒中 網膜出血

常染色体劣性遺伝

An autosomal recessive form of PXE.  >> 翻訳 (Google)

784
(42.4%)

pseudoxanthoma elasticum, forme fruste
----
弾性線維性仮性黄色腫, 不完全型

Peau d'orange Yellow papule 大脳出血 網膜出血

常染色体優性遺伝

An autosomal dominant form of PXE.  >> 翻訳 (Google)

784
(42.4%)

Yunis-Varon syndrome
----
Yunis-Varon 症候群

Fallot 四徴症 手掌横線 胎児水腫 血液および血液痙性組織の異常

常染色体劣性遺伝

Yunis-Varon syndrome is a rare condition that affects many different parts of the body. Signs and symptoms are generally present from birth and may include underdeveloped or absent collarbones (clavicles); large fontanelles; characteristic facial features; hypotonia (reduced muscle tone) and/or abnormalities of the fingers and toes. Affected people may also experience feeding difficulties, breathing problems, brain malformations, heart defects, skeletal abnormalities, developmental delay, and/or intellectual disability. Yunis-Varon syndrome is caused by changes (mutations) in the FIG4 gene and isinherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.  >> 翻訳 (Google)

784
(42.4%)

macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
----
Takenouchi-Kosaki 症候群

リンパ性浮腫 動脈管開存症 母斑 血小板減少

常染色体優性遺伝

792
(42.3%)

cerebral cavernous malformation 1
----
大脳海綿状奇形 (CCM)

皮膚の異常 肝血管奇形 頭蓋内出血

常染色体優性遺伝 Heterogeneous

792
(42.3%)

dyskeratosis congenita, autosomal recessive 2
----
角化異常症, 先天性, 常染色体劣性, 2

精巣萎縮 肝硬変 血小板減少

常染色体劣性遺伝

A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA2 on chromosome 5q35.3.  >> 翻訳 (Google)

792
(42.3%)

dyskeratosis congenita, autosomal recessive 1
----
角化異常症, 先天性, 常劣型

小頭 肝線維症 血小板減少

常染色体劣性遺伝

A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA3 on chromosome 15q14.  >> 翻訳 (Google)

795
(42.2%)

bone marrow failure syndrome 3
----
骨髄不全症候群3

停留精巣 外分泌性膵不全 汎血球減少症 過角化症

常染色体劣性遺伝

Any bone marrow failure syndrome in which the cause of the disease is a mutation in the DNAJC21 gene.  >> 翻訳 (Google)

796
(42.2%)

polycystic liver disease 1
----
多発性肝嚢胞1 +/- 腎嚢胞

アルカリホスファターゼ上昇 多嚢胞性肝疾患 腎嚢胞 腹水

常染色体優性遺伝

A polycystic liver disease in which the cause of the disease is a mutation in the PRKCSH gene, and is characterized by the appearance of numerous cysts spread throughout the liver.  >> 翻訳 (Google)

796
(42.2%)

short-rib thoracic dysplasia 7 with or without polydactyly
----
短肋骨胸郭異形成7 +/- 多指症

尿道下裂 肝線維症 胎児水腫 腹水

常染色体劣性遺伝

An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1.  >> 翻訳 (Google)

798
(42.2%)

hereditary North American Indian childhood cirrhosis
----
北アメリカインディアン小児肝硬変

遷延性新生児黄疸 門脈圧亢進

常染色体劣性遺伝

Hereditary North American Indian childhood cirrhosis is a severe autosomal recessive intrahepatic cholestasis that has only been described in aboriginal children from northwestern Quebec. Manifesting first as transient neonatal jaundice, the disease evolves into periportal fibrosis and cirrhosis during a period ranging from childhood to adolescence.  >> 翻訳 (Google)

798
(42.2%)

neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome
----
神経線維腫症-褐色細胞腫-十二指腸カルチノイド症候群

黄疸

常染色体優性遺伝

798
(42.2%)

congenital isolated adrenocorticotropic hormone deficiency (disease)
----
ACTH 欠損症, 単独

副腎低形成 黄疸

常染色体劣性遺伝

A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland.  >> 翻訳 (Google)