MCID: CHN018
MIFTS: 25

Chondrodysplasia Punctata 2, X-Linked

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

Aliases & Classifications for Chondrodysplasia Punctata 2, X-Linked

MalaCards integrated aliases for Chondrodysplasia Punctata 2, X-Linked:

Name: Chondrodysplasia Punctata 2, X-Linked 23 24
Conradi-Hünermann Syndrome 23 24
Happle Syndrome 23 24
Chondrodysplasia Punctata, X-Linked Dominant Type 69
X-Linked Dominant Chondrodysplasia Punctata 24
X-Linked Chondrodysplasia Punctata 2 24
Conradi-Hünermann-Happle Syndrome 24
Cdpx2 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 : 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 conradi-h√ľnermann syndrome, is related to chondrodysplasia punctata 2, x-linked dominant and chondrodysplasia punctata syndrome, and has symptoms including abnormality of the dentition, malar flattening and epicanthus. 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: NBK55062

Related Diseases for Chondrodysplasia Punctata 2, X-Linked

Diseases in the X-Linked Chondrodysplasia Punctata family:

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

# Related Disease Score Top Affiliating Genes
1 chondrodysplasia punctata 2, x-linked dominant 12.7
2 chondrodysplasia punctata syndrome 10.1

Symptoms & Phenotypes for Chondrodysplasia Punctata 2, X-Linked

Human phenotypes related to Chondrodysplasia Punctata 2, X-Linked:

31 (show all 27)
# Description HPO Frequency HPO Source Accession
1 abnormality of the dentition 31 occasional (7.5%) HP:0000164
2 malar flattening 31 occasional (7.5%) HP:0000272
3 epicanthus 31 hallmark (90%) HP:0000286
4 sensorineural hearing impairment 31 occasional (7.5%) HP:0000407
5 microcornea 31 occasional (7.5%) HP:0000482
6 ptosis 31 hallmark (90%) HP:0000508
7 cataract 31 occasional (7.5%) HP:0000518
8 microphthalmia 31 occasional (7.5%) HP:0000568
9 optic atrophy 31 frequent (33%) HP:0000648
10 abnormality of the fingernails 31 hallmark (90%) HP:0001231
11 joint dislocation 31 hallmark (90%) HP:0001373
12 hip dysplasia 31 occasional (7.5%) HP:0001385
13 talipes equinovarus 31 occasional (7.5%) HP:0001762
14 foot polydactyly 31 occasional (7.5%) HP:0001829
15 frontal bossing 31 occasional (7.5%) HP:0002007
16 kyphosis 31 hallmark (90%) HP:0002808
17 abnormal vertebral morphology 31 occasional (7.5%) HP:0003468
18 clinodactyly of the 5th finger 31 occasional (7.5%) HP:0004209
19 scarring alopecia of scalp 31 hallmark (90%) HP:0004552
20 abnormality of epiphysis morphology 31 occasional (7.5%) HP:0005930
21 congenital ichthyosiform erythroderma 31 hallmark (90%) HP:0007431
22 aplasia/hypoplasia of the skin 31 occasional (7.5%) HP:0008065
23 rhizomelia 31 occasional (7.5%) HP:0008905
24 abnormality of hair texture 31 occasional (7.5%) HP:0010719
25 erythema 31 hallmark (90%) HP:0010783
26 flat face 31 occasional (7.5%) HP:0012368
27 hemiatrophy 31 hallmark (90%) HP:0100556

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


edema

Drugs & Therapeutics for Chondrodysplasia Punctata 2, X-Linked

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 Chondrodysplasia Punctata 2, X-Linked

Genetic Tests for Chondrodysplasia Punctata 2, X-Linked

Anatomical Context for Chondrodysplasia Punctata 2, X-Linked

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

38
Skin, Bone, Eye

Publications for Chondrodysplasia Punctata 2, X-Linked

Articles related to Chondrodysplasia Punctata 2, X-Linked:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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