Chondrodysplasia Punctata 2 X-linked Dominant malady

NIH Rare Diseases: X-linked dominant chondrodysplasia punctata (CDPX2), also known as Conradi-Hünermann-Happle syndrome, is a rare form of skeletal dysplasia characterized by skeletal malformations, skin abnormalities, cataracts and short stature. The specific symptoms and severity of the disorder may vary greatly from one individual to another. CDPX2 is caused by mutations in the emopamil binding protein gene, EBP. In many cases, this mutation occurs randomly, for no apparent reason (i.e., new mutation). The condition  is inherited as an X-linked dominant trait and occurs almost exclusively in females. Treatment of CDPX2 is directed toward the specific symptoms that present in each individual. Such treatment may require the coordinated efforts of a team of medical professionals, including physicians who diagnose and treat disorders of the skeleton, joints, muscles, and related tissues (orthopedists); skin specialists (dermatologists); eye specialists; and/or other health care professionals.³⁰

MalaCards: Chondrodysplasia Punctata 2 X-linked Dominant, also known as chondrodysplasia punctata, x-linked dominant, is related to chondrodysplasia punctata 1, x-linked recessive. An important gene associated with Chondrodysplasia Punctata 2 X-linked Dominant is EBP (emopamil binding protein (sterol isomerase)). Affiliated tissues include skeletal muscle and skin.

Genetics Home Reference: X-linked chondrodysplasia punctata 2 is a disorder characterized by bone, skin, and eye abnormalities. It occurs almost exclusively in females.¹⁷

OMIM: 302960

chondrodysplasia punctata 2 x-linked dominant 30 chondrodysplasia punctata, x-linked dominant 30 33 cdpx2 30 32 conrad hunermann happle syndrome 30 conradi hunermann syndrome 30

chondrodysplasia punctata 43 happle syndrome 30 cdpxd 30 cpxd 30

Diseases related to chondrodysplasia punctata 2 x-linked dominant by text searches and GeneDecks gene sharing:

id	Related Disease	Score	Top Affiliating Genes
1	chondrodysplasia punctata 1, x-linked recessive	7.4

Clinical features from OMIM: 302960

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to chondrodysplasia punctata 2 x-linked dominant:

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Genes related to chondrodysplasia punctata 2 x-linked dominant according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	EBP	emopamil binding protein (sterol isomerase)	11.1	Disorders, Aliases & Descriptions