CPXD
MCID: CHN029
MIFTS: 22

Chondrodysplasia Punctata 2 X-Linked Dominant (CPXD) malady

Genetic diseases, Rare diseases, Eye diseases, Bone diseases, Skin diseases, Fetal diseases categories

Summaries for Chondrodysplasia Punctata 2 X-Linked Dominant

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44NIH Rare Diseases, 34MalaCards
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NIH Rare Diseases:44 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. Affiliated tissues include eye and skin.

Aliases & Classifications for Chondrodysplasia Punctata 2 X-Linked Dominant

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44NIH Rare Diseases, 23GTR, 46Novoseek, 63UMLS
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Classifications:



Aliases & Descriptions:

chondrodysplasia punctata 2 x-linked dominant 44 23
cdpx2 44 46
chondrodysplasia punctata, x-linked dominant type 63
chondrodysplasia punctata 2, x-linked dominant 63
chondrodysplasia punctata, x-linked dominant 44
conrad hunermann happle syndrome 44
conradi hunermann syndrome 44
happle syndrome 44
cdpxd 44
cpxd 44


Related Diseases for Chondrodysplasia Punctata 2 X-Linked Dominant

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18GeneCards, 19GeneDecks
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Diseases in the Chondrodysplasia Punctata 2, X-Linked family:

Chondrodysplasia Punctata 1, X-Linked Chondrodysplasia Punctata 1, X-Linked Recessive
chondrodysplasia punctata 2 x-linked dominant Chondrodysplasia Punctata, X-Linked Recessive

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-linked10.5
2chondrodysplasia10.3
3cataract10.1
4short stature10.1
5smith-lemli-opitz syndrome10.0
6hydrops, ectopic calcification, moth-eaten skeletal dysplasia10.0

Graphical network of diseases related to Chondrodysplasia Punctata 2 X-Linked Dominant:



Diseases related to chondrodysplasia punctata 2 x-linked dominant

Symptoms for Chondrodysplasia Punctata 2 X-Linked Dominant

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Drugs & Therapeutics for Chondrodysplasia Punctata 2 X-Linked Dominant

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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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

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23GTR
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Genetic tests related to Chondrodysplasia Punctata 2 X-Linked Dominant:

id Genetic test Affiliating Genes
1 Chondrodysplasia Punctata 2 X-Linked Dominant23

Anatomical Context for Chondrodysplasia Punctata 2 X-Linked Dominant

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34MalaCards
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MalaCards organs/tissues related to Chondrodysplasia Punctata 2 X-Linked Dominant:

34
Eye, Skin

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

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Publications for Chondrodysplasia Punctata 2 X-Linked Dominant

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Variations for Chondrodysplasia Punctata 2 X-Linked Dominant

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Chondrodysplasia Punctata 2 X-Linked Dominant:

1
id Gene Name Type Significance SNP ID Assembly Location
1EBPNM_006579.2(EBP): c.87G> A (p.Trp29Ter)single nucleotide variantPathogenicrs104894798GRCh37Chr X, 48382246: 48382246
2EBPNM_006579.2(EBP): c.187C> T (p.Arg63Ter)single nucleotide variantPathogenicrs104894799GRCh37Chr X, 48382346: 48382346
3EBPNM_006579.2(EBP): c.238G> A (p.Glu80Lys)single nucleotide variantPathogenicrs104894800GRCh37Chr X, 48382397: 48382397
4EBPNM_006579.2(EBP): c.386G> A (p.Trp129Ter)single nucleotide variantPathogenicrs104894792GRCh37Chr X, 48385590: 48385590
5EBPNM_006579.2(EBP): c.523C> T (p.Gln175Ter)single nucleotide variantPathogenicrs104894793GRCh37Chr X, 48386675: 48386675
6EBPNM_006579.2(EBP): c.587G> A (p.Trp196Ter)single nucleotide variantPathogenicrs104894794GRCh37Chr X, 48386739: 48386739
7EBPNM_006579.2(EBP): c.440G> A (p.Arg147His)single nucleotide variantPathogenicrs28935174GRCh37Chr X, 48385644: 48385644

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

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Sources:
16Gene Expression Omnibus DataSets
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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

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

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

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Chondrodysplasia Punctata 2 X-Linked Dominant

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet