CPXD
MCID: CHN029
MIFTS: 23

Chondrodysplasia Punctata 2 X-Linked Dominant (CPXD) malady

Genetic diseases, Rare diseases, Eye diseases, Bone diseases, Skin diseases, Metabolic diseases, Fetal diseases categories
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Summaries for Chondrodysplasia Punctata 2 X-Linked Dominant

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NIH Rare Diseases:42 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 based summary: Chondrodysplasia Punctata 2 X-Linked Dominant, also known as happle syndrome, is related to chondrodysplasia punctata 2, x-linked and chondrodysplasia. An important gene associated with Chondrodysplasia Punctata 2 X-Linked Dominant is EBP (emopamil binding protein (sterol isomerase)). Affiliated tissues include eye and skin.

Aliases & Classifications for Chondrodysplasia Punctata 2 X-Linked Dominant

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Sources:
42NIH Rare Diseases, 22GTR, 44Novoseek, 62UMLS
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Chondrodysplasia Punctata 2 X-Linked Dominant, Aliases & Descriptions:

Name: Chondrodysplasia Punctata 2 X-Linked Dominant 42 22
Happle Syndrome 42 62
Cdpx2 42 44
Cpxd 42 62
Chondrodysplasia Punctata, X-Linked Dominant Type 62
 
Chondrodysplasia Punctata 2, X-Linked Dominant 62
Chondrodysplasia Punctata, X-Linked Dominant 42
Conrad Hunermann Happle Syndrome 42
Conradi Hunermann Syndrome 42
Cdpxd 42


Classifications:



Related Diseases for Chondrodysplasia Punctata 2 X-Linked Dominant

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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
2chondrodysplasia10.4
3cataract10.1
4epidermal nevus10.1
5short stature10.1
6smith-lemli-opitz syndrome10.1
7hydrops, ectopic calcification, moth-eaten skeletal dysplasia10.1

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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Drug clinical trials:

Search ClinicalTrials for Chondrodysplasia Punctata 2 X-Linked Dominant

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

Genetic Tests for Chondrodysplasia Punctata 2 X-Linked Dominant

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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 Dominant22

Anatomical Context for Chondrodysplasia Punctata 2 X-Linked Dominant

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

32
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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Clinvar genetic disease variations for Chondrodysplasia Punctata 2 X-Linked Dominant:

6
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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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

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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

Sources for Chondrodysplasia Punctata 2 X-Linked Dominant

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet