MCID: XLN229
MIFTS: 20

X-Linked Chondrodysplasia Punctata 2

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 26 15
Chondrodysplasia Punctata 2, X-Linked 25 26
Conradi-Hünermann Syndrome 25 26
Happle Syndrome 25 26
X-Linked Dominant Chondrodysplasia Punctata 26
Conradi-Hünermann-Happle Syndrome 26
Cdpx2 26

Characteristics:

GeneReviews:

25
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 and eye.

Genetics Home Reference : 26 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 16)
# Related Disease Score Top Affiliating Genes
1 chondrodysplasia punctata 2, x-linked dominant 12.3
2 bazex syndrome 11.5
3 greenberg dysplasia 11.5
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 10.2
10 mend syndrome 10.1
11 ichthyosis vulgaris 10.0
12 nevus, epidermal 10.0
13 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 10.0
14 alopecia 10.0
15 cataract 10.0
16 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:

42
Skin, Eye

Publications for X-Linked Chondrodysplasia Punctata 2

Articles related to X-Linked Chondrodysplasia Punctata 2:

# Title Authors Year
1
The nature of cartilage stippling in chondrodysplasia punctata: histopathological study of Conradi-Hünermann syndrome. ( 18568995 )
2008
2
Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome. ( 10391219 )
1999
3
Conradi-Hünermann syndrome with unilateral distribution. ( 9720698 )
1998
4
X-linked dominant ichthyosis with peroxisomal deficiency. An ultrastructural and ultracytochemical study of the Conradi-Hünermann syndrome and its murine homologue, the bare patches mouse. ( 8129411 )
1994
5
Prenatal diagnosis of nonrhizomelic chondrodysplasia punctata (Conradi-Hünermann syndrome). ( 8135294 )
1993
6
[Chondrodysplasia punctata (the Conradi-Hünermann syndrome). A clinical case report and review of the literature]. ( 8341225 )
1993
7
The syndrome page. X-linked dominant chondrodysplasia punctata (Conradi-Hünermann syndrome). ( 2748475 )
1989
8
Chondrodysplasia punctata. Conradi-Hünermann syndrome. ( 911172 )
1977

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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