MCID: CHN017
MIFTS: 14

Chondrodysplasia Punctata 1, X-Linked

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

Aliases & Classifications for Chondrodysplasia Punctata 1, X-Linked

MalaCards integrated aliases for Chondrodysplasia Punctata 1, X-Linked:

Name: Chondrodysplasia Punctata 1, X-Linked 24 25
X-Linked Chondrodysplasia Punctata 1 25 73
Arylsulfatase E Deficiency 24 25
Cdpx1 24 25
Chondrodysplasia Punctata, Type 1, X-Linked Recessive 40
X-Linked Recessive Chondrodysplasia Punctata 1 25
Brachytelephalangic Chondrodysplasia Punctata 73
Arylsulfatase E 13

Characteristics:

GeneReviews:

24
Penetrance Penetrance appears to be complete; however, in one report, the pathogenic arse variant p.gly137ala was identified in a proband and his maternal grandfather, the latter of whom was considered asymptomatic [sheffield et al 1998]. this missense substitution involving a conserved amino acid was identified in a second unrelated, clinically affected proband [nino et al 2008], implicating it as pathogenic. in a second, similar case [casarin et al 2009] a deletion of exons 7-10 was identified in a proband and his asymptomatic maternal grandfather. considering that physical features of cdpx1 improve with age, it is uncertain whether such cases represent non-penetrance...

Classifications:



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Summaries for Chondrodysplasia Punctata 1, X-Linked

Genetics Home Reference : 25 X-linked chondrodysplasia punctata 1 is a disorder of cartilage and bone development that occurs almost exclusively in males. Chondrodysplasia punctata is an abnormality that appears on x-rays as spots (stippling) near the ends of bones and in cartilage. In most infants with X-linked chondrodysplasia punctata 1, this stippling is seen in bones of the ankles, toes, and fingers; however, it can also appear in other bones. The stippling generally disappears in early childhood.

MalaCards based summary : Chondrodysplasia Punctata 1, X-Linked, also known as x-linked chondrodysplasia punctata 1, is related to chondrodysplasia punctata 1, x-linked recessive and chondrodysplasia punctata syndrome. An important gene associated with Chondrodysplasia Punctata 1, X-Linked is ARSE (Arylsulfatase E (Chondrodysplasia Punctata 1)). Affiliated tissues include bone.

GeneReviews: NBK1544

Related Diseases for Chondrodysplasia Punctata 1, 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 1, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

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

Symptoms & Phenotypes for Chondrodysplasia Punctata 1, X-Linked

Drugs & Therapeutics for Chondrodysplasia Punctata 1, X-Linked

Search Clinical Trials , NIH Clinical Center for Chondrodysplasia Punctata 1, X-Linked

Genetic Tests for Chondrodysplasia Punctata 1, X-Linked

Anatomical Context for Chondrodysplasia Punctata 1, X-Linked

MalaCards organs/tissues related to Chondrodysplasia Punctata 1, X-Linked:

41
Bone

Publications for Chondrodysplasia Punctata 1, X-Linked

Articles related to Chondrodysplasia Punctata 1, X-Linked:

# Title Authors Year
1
Chondrodysplasia Punctata 1, X-Linked ( 20301713 )
1993

Variations for Chondrodysplasia Punctata 1, X-Linked

Expression for Chondrodysplasia Punctata 1, X-Linked

Search GEO for disease gene expression data for Chondrodysplasia Punctata 1, X-Linked.

Pathways for Chondrodysplasia Punctata 1, X-Linked

GO Terms for Chondrodysplasia Punctata 1, X-Linked

Sources for Chondrodysplasia Punctata 1, 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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