MCID: CHN018
MIFTS: 14

Chondrodysplasia Punctata 2, X-Linked malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Metabolic diseases, Fetal diseases, Eye diseases, Skin diseases

Aliases & Classifications for Chondrodysplasia Punctata 2, X-Linked

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Aliases & Descriptions for Chondrodysplasia Punctata 2, X-Linked:

Name: Chondrodysplasia Punctata 2, X-Linked 23 24 25
Happle Syndrome 23 24 25
Conradi-Hünermann Syndrome 23 25
Cdpx2 24 25
Chondrodysplasia Punctata, X-Linked Dominant Type 68
 
X-Linked Dominant Chondrodysplasia Punctata 25
X-Linked Chondrodysplasia Punctata 2 25
Conradi-Hünermann-Happle Syndrome 25
Conradi-Hunermann Syndrome 24

Characteristics:

GeneReviews:

23
Penetrance: no unaffected males or females with an ebp pathogenic variant have been reported; thus, penetrance appears to be complete. some women have been so mildly affected that they were identified only after having had a child with more severe features in whom cdxp2 was diagnosed. although these adult women have subtle findings, their findings are sufficient to consider them affected...


Classifications:



Summaries for Chondrodysplasia Punctata 2, X-Linked

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Genetics Home Reference:25 X-linked chondrodysplasia punctata 2 is a disorder characterized by bone, skin, and eye abnormalities. It occurs almost exclusively in females.

MalaCards based summary: Chondrodysplasia Punctata 2, X-Linked, also known as happle syndrome, is related to chondrodysplasia punctata, x-linked dominant. An important gene associated with Chondrodysplasia Punctata 2, X-Linked is EBP (Emopamil Binding Protein (Sterol Isomerase)). Affiliated tissues include skin, bone and eye.

GeneReviews for NBK55062

Related Diseases for Chondrodysplasia Punctata 2, X-Linked

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Diseases in the X-Linked Chondrodysplasia Punctata family:

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

Diseases related to Chondrodysplasia Punctata 2, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1chondrodysplasia punctata, x-linked dominant12.0

Symptoms & Phenotypes for Chondrodysplasia Punctata 2, X-Linked

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Drugs & Therapeutics for Chondrodysplasia Punctata 2, X-Linked

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Novel Treatment for Syndromic IchthyosesWithdrawnNCT01110642Phase 2

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

Genetic Tests for Chondrodysplasia Punctata 2, X-Linked

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

id Genetic test Affiliating Genes
1 Chondrodysplasia Punctata 2, X-Linked24 EBP

Anatomical Context for Chondrodysplasia Punctata 2, X-Linked

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

36
Skin, Bone, Eye

Publications for Chondrodysplasia Punctata 2, X-Linked

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Articles related to Chondrodysplasia Punctata 2, X-Linked:

idTitleAuthorsYear
1
Chondrodysplasia Punctata 2, X-Linked (21634086)
1993

Variations for Chondrodysplasia Punctata 2, X-Linked

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

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

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

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

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Sources for Chondrodysplasia Punctata 2, X-Linked

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet