MCID: CHN018
MIFTS: 25

Chondrodysplasia Punctata 2, X-Linked

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

Aliases & Classifications for Chondrodysplasia Punctata 2, X-Linked

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

Name: Chondrodysplasia Punctata 2, X-Linked 24 25
Conradi-Hünermann Syndrome 24 25
Happle Syndrome 24 25
Chondrodysplasia Punctata, X-Linked Dominant Type 73
X-Linked Dominant Chondrodysplasia Punctata 25
X-Linked Chondrodysplasia Punctata 2 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:



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 conradi-hünermann syndrome, is related to chondrodysplasia punctata 2, x-linked dominant and chondrodysplasia punctata syndrome, and has symptoms including edema An important gene associated with Chondrodysplasia Punctata 2, X-Linked is EBP (EBP, Cholestenol Delta-Isomerase). Affiliated tissues include skin, bone and eye, and related phenotypes are abnormality of the dentition and malar flattening

Wikipedia : 76 Conradi–Hünermann syndrome (also known as \"Conradi–Hünermann–Happle syndrome\", \"Happle syndrome,\"... more...

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:

32 (show all 27)
# Description HPO Frequency HPO Source Accession
1 abnormality of the dentition 32 occasional (7.5%) HP:0000164
2 malar flattening 32 occasional (7.5%) HP:0000272
3 epicanthus 32 hallmark (90%) HP:0000286
4 sensorineural hearing impairment 32 occasional (7.5%) HP:0000407
5 microcornea 32 occasional (7.5%) HP:0000482
6 ptosis 32 hallmark (90%) HP:0000508
7 cataract 32 occasional (7.5%) HP:0000518
8 microphthalmia 32 occasional (7.5%) HP:0000568
9 optic atrophy 32 frequent (33%) HP:0000648
10 abnormality of the fingernails 32 hallmark (90%) HP:0001231
11 joint dislocation 32 hallmark (90%) HP:0001373
12 hip dysplasia 32 occasional (7.5%) HP:0001385
13 talipes equinovarus 32 occasional (7.5%) HP:0001762
14 foot polydactyly 32 occasional (7.5%) HP:0001829
15 frontal bossing 32 occasional (7.5%) HP:0002007
16 kyphosis 32 hallmark (90%) HP:0002808
17 abnormal vertebral morphology 32 occasional (7.5%) HP:0003468
18 clinodactyly of the 5th finger 32 occasional (7.5%) HP:0004209
19 scarring alopecia of scalp 32 hallmark (90%) HP:0004552
20 abnormality of epiphysis morphology 32 occasional (7.5%) HP:0005930
21 congenital ichthyosiform erythroderma 32 hallmark (90%) HP:0007431
22 aplasia/hypoplasia of the skin 32 occasional (7.5%) HP:0008065
23 rhizomelia 32 occasional (7.5%) HP:0008905
24 abnormality of hair texture 32 occasional (7.5%) HP:0010719
25 erythema 32 hallmark (90%) HP:0010783
26 flat face 32 occasional (7.5%) HP:0012368
27 hemiatrophy 32 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:

41
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
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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