MCID: CHN018
MIFTS: 15

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 22 23 24
Happle Syndrome 22 23 24
Conradi-Hünermann Syndrome 22 24
Cdpx2 23 24
Chondrodysplasia Punctata, X-Linked Dominant Type 66
 
X-Linked Dominant Chondrodysplasia Punctata 24
X-Linked Chondrodysplasia Punctata 2 24
Conradi-Hünermann-Happle Syndrome 24
Conradi-Hunermann Syndrome 23

Classifications:



Summaries for Chondrodysplasia Punctata 2, X-Linked

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Genetics Home Reference:24 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.

Wikipedia:69 Conradi–Hünermann syndrome (also known as \"Conradi–Hünermann–Happle syndrome\", \"Happle... more...

GeneReviews summary 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 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-Linked23 EBP

Anatomical Context for Chondrodysplasia Punctata 2, X-Linked

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

34
Skin, Bone, Eye

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

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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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet