CDPX2
MCID: CHN018
MIFTS: 15

Chondrodysplasia Punctata 2, X-Linked (CDPX2) malady

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

Aliases & Classifications for Chondrodysplasia Punctata 2, X-Linked

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 69
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

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, and has symptoms including edema An important gene associated with Chondrodysplasia Punctata 2, X-Linked is EBP (Emopamil Binding Protein (Sterol Isomerase)). Affiliated tissues include bone, skin and eye.

GeneReviews: NBK55062

Related Diseases for Chondrodysplasia Punctata 2, X-Linked

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:

id Related Disease Score Top Affiliating Genes
1 chondrodysplasia punctata, x-linked dominant 12.0

Symptoms & Phenotypes for Chondrodysplasia Punctata 2, X-Linked

UMLS symptoms related to Chondrodysplasia Punctata 2, X-Linked:


edema

Drugs & Therapeutics for Chondrodysplasia Punctata 2, X-Linked

Interventional clinical trials:


id Name Status NCT ID Phase
1 Novel Treatment for Syndromic Ichthyoses Withdrawn NCT01110642 Phase 2

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

Genetic Tests for Chondrodysplasia Punctata 2, X-Linked

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

id Genetic test Affiliating Genes
1 Chondrodysplasia Punctata 2, X-Linked 24 EBP

Anatomical Context for Chondrodysplasia Punctata 2, X-Linked

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

39
Bone, Skin, Eye

Publications for Chondrodysplasia Punctata 2, X-Linked

Articles related to Chondrodysplasia Punctata 2, X-Linked:

id Title Authors Year
1
Chondrodysplasia Punctata 2, X-Linked ( 21634086 )
1993

Variations for Chondrodysplasia Punctata 2, X-Linked

Expression for Chondrodysplasia Punctata 2, X-Linked

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

Pathways for Chondrodysplasia Punctata 2, X-Linked

GO Terms for Chondrodysplasia Punctata 2, X-Linked

Sources for Chondrodysplasia Punctata 2, X-Linked

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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