Chondrodysplasia Punctata 2, X-Linked Dominant (CDPX2)

X-连锁显性点状软骨发育不良2型(来自ICD-11)

别称:

Cdpx2

X-Linked Dominant Chondrodysplasia Punctata

Conradi-Hunermann-Happle Syndrome

Cdpxd

Cpxd

Chondrodysplasia Punctata 2 X-Linked Dominant

Chondrodysplasia Punctata, X-Linked Dominant

X-Linked Chondrodysplasia Punctata Type 2

Chondrodystrophia Calcificans Congenita

Conradi-Hunermann Syndrome

Happle Syndrome

Chondrodysplasia Punctata, Type 2, X-Linked Dominant

Chondrodysplasia Punctata, X-Linked Dominant Type

Conradi-Hünermann-Happle Syndrome

Chondrodysplasia Punctata

Chh

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

软骨发育不全2型, X连锁显性, 也称为cdpx2, 与X连锁软骨发育不全2型和格林伯格发育不良有关, 其症状包括水肿与软骨发育不全2型, X连锁显性有关的重要基因是EBP (EBP胆固醇Delta异构酶), 其相关通路/超级通路包括代谢和胆固醇生物合成的超级通路。在该疾病的背景下提到了甘油和椰子。附属组织包括皮肤和骨骼, 相关表型为软骨板点状发育不良和皮肤异常

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