CDPX2
MCID: XLN229
MIFTS: 17

X-Linked Chondrodysplasia Punctata 2 (CDPX2)

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

Aliases & Classifications for X-Linked Chondrodysplasia Punctata 2

MalaCards integrated aliases for X-Linked Chondrodysplasia Punctata 2:

Name: X-Linked Chondrodysplasia Punctata 2 12 25 15
Chondrodysplasia Punctata 2, X-Linked 24 25
Conradi-Hünermann Syndrome 24 25
Happle Syndrome 24 25
X-Linked Dominant Chondrodysplasia Punctata 25
Conradi-Hünermann-Happle Syndrome 25
Cdpx2 25

Characteristics:

GeneReviews:

24
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:



External Ids:

Disease Ontology 12 DOID:0080352

Summaries for X-Linked Chondrodysplasia Punctata 2

Disease Ontology : 12 A chondrodysplasia puncata that has material basis in mutation in the gene encoding delta(8)-delta(7) sterol isomerase emopamil-binding protein on chromosome Xp11.

MalaCards based summary : X-Linked Chondrodysplasia Punctata 2, also known as chondrodysplasia punctata 2, x-linked, is related to chondrodysplasia punctata 2, x-linked dominant and bazex syndrome. Affiliated tissues include skin, bone and eye.

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.

GeneReviews: NBK55062

Related Diseases for X-Linked Chondrodysplasia Punctata 2

Diseases in the Chondrodysplasia Punctata 2, X-Linked Dominant family:

Chondrodysplasia Punctata 1, X-Linked Recessive X-Linked Chondrodysplasia Punctata 1
X-Linked Chondrodysplasia Punctata 2

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

(show all 13)
# Related Disease Score Top Affiliating Genes
1 chondrodysplasia punctata 2, x-linked dominant 12.2
2 bazex syndrome 11.4
3 greenberg dysplasia 11.4
4 smith-lemli-opitz syndrome 11.1
5 chondrodysplasia punctata syndrome 10.4
6 opitz gbbb syndrome, type i 10.3
7 incontinentia pigmenti 10.3
8 dyskeratosis congenita 10.3
9 ichthyosis 10.1
10 ichthyosis vulgaris 10.0
11 nevus, epidermal 10.0
12 cataract 10.0
13 psoriasis 10.0

Graphical network of the top 20 diseases related to X-Linked Chondrodysplasia Punctata 2:



Diseases related to X-Linked Chondrodysplasia Punctata 2

Symptoms & Phenotypes for X-Linked Chondrodysplasia Punctata 2

Drugs & Therapeutics for X-Linked Chondrodysplasia Punctata 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Novel Treatment for Syndromic Ichthyoses Withdrawn NCT01110642 Phase 2 Lovastatin

Search NIH Clinical Center for X-Linked Chondrodysplasia Punctata 2

Genetic Tests for X-Linked Chondrodysplasia Punctata 2

Anatomical Context for X-Linked Chondrodysplasia Punctata 2

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

41
Skin, Bone, Eye

Publications for X-Linked Chondrodysplasia Punctata 2

Articles related to X-Linked Chondrodysplasia Punctata 2:

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

Variations for X-Linked Chondrodysplasia Punctata 2

Expression for X-Linked Chondrodysplasia Punctata 2

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

Pathways for X-Linked Chondrodysplasia Punctata 2

GO Terms for X-Linked Chondrodysplasia Punctata 2

Sources for X-Linked Chondrodysplasia Punctata 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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