CDPX2
MCID: CHN029
MIFTS: 17

Chondrodysplasia Punctata 2 X-Linked Dominant (CDPX2) malady

Summaries for Chondrodysplasia Punctata 2 X-Linked Dominant

Sources:
43NIH Rare Diseases, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:43 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. last updated: 11/18/2011

MalaCards: Chondrodysplasia Punctata 2 X-Linked Dominant, also known as CDPX2, is related to chondrodysplasia punctata 2, x-linked and chondrodysplasia punctata syndrome. 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.

Aliases & Classifications for Chondrodysplasia Punctata 2 X-Linked Dominant

Sources:
43NIH Rare Diseases, 22GTR, 45Novoseek, 61UMLS
See all sources

Aliases & Descriptions:

chondrodysplasia punctata 2 x-linked dominant 43 22
cdpx2 43 45
chondrodysplasia punctata, x-linked dominant type 61
chondrodysplasia punctata 2, x-linked dominant 61
chondrodysplasia punctata, x-linked dominant 43
conrad hunermann happle syndrome 43
conradi hunermann syndrome 43
cdpxd 43


Related Diseases for Chondrodysplasia Punctata 2 X-Linked Dominant

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Chondrodysplasia Punctata 2 X-Linked Dominant via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1chondrodysplasia punctata 2, x-linked10.4
2chondrodysplasia punctata syndrome10.4
3chondrodysplasia10.3
4smith-lemli-opitz syndrome10.0

Clinical Features for Chondrodysplasia Punctata 2 X-Linked Dominant

Drugs & Therapeutics for Chondrodysplasia Punctata 2 X-Linked Dominant

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Chondrodysplasia Punctata 2 X-Linked Dominant

Drug clinical trials:

Search ClinicalTrials for Chondrodysplasia Punctata 2 X-Linked Dominant

Search NIH Clinical Center for Chondrodysplasia Punctata 2 X-Linked Dominant

Search CenterWatch for Chondrodysplasia Punctata 2 X-Linked Dominant

Genetic Tests for Chondrodysplasia Punctata 2 X-Linked Dominant

Sources:
22GTR
See all sources

Genetic tests related to Chondrodysplasia Punctata 2 X-Linked Dominant:

id Genetic test Affiliating Genes
1 Chondrodysplasia Punctata 2 X-linked Dominant22

Anatomical Context for Chondrodysplasia Punctata 2 X-Linked Dominant

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Chondrodysplasia Punctata 2 X-Linked Dominant:

33
Skeletal muscle, Skin

Animal Models for Chondrodysplasia Punctata 2 X-Linked Dominant or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Chondrodysplasia Punctata 2 X-Linked Dominant

Genetic Variations for Chondrodysplasia Punctata 2 X-Linked Dominant

Expression for genes affiliated with Chondrodysplasia Punctata 2 X-Linked Dominant

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Chondrodysplasia Punctata 2 X-Linked Dominant

Search GEO for disease gene expression data for Chondrodysplasia Punctata 2 X-Linked Dominant.

Pathways for genes affiliated with Chondrodysplasia Punctata 2 X-Linked Dominant

Compounds for genes affiliated with Chondrodysplasia Punctata 2 X-Linked Dominant

GO Terms for genes affiliated with Chondrodysplasia Punctata 2 X-Linked Dominant

Products for genes affiliated with Chondrodysplasia Punctata 2 X-Linked Dominant

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Chondrodysplasia Punctata 2 X-Linked Dominant

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet