MCID: CHN017
MIFTS: 12

Chondrodysplasia Punctata 1, X-Linked malady

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

Aliases & Classifications for Chondrodysplasia Punctata 1, X-Linked

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Aliases & Descriptions for Chondrodysplasia Punctata 1, X-Linked:

Name: Chondrodysplasia Punctata 1, X-Linked 21 22 23
Arylsulfatase E Deficiency 21 22 23
Cdpx1 21 22 23
 
X-Linked Chondrodysplasia Punctata 1 23 65
X-Linked Recessive Chondrodysplasia Punctata 1 23
Brachytelephalangic Chondrodysplasia Punctata 65

Classifications:



External Ids:

UMLS65 C1844853, C3669395

Summaries for Chondrodysplasia Punctata 1, X-Linked

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Genetics Home Reference:23 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 arylsulfatase e deficiency, is related to chondrodysplasia punctata, x-linked recessive. An important gene associated with Chondrodysplasia Punctata 1, X-Linked is ARSE (Arylsulfatase E (Chondrodysplasia Punctata 1)). Affiliated tissues include bone, eye and skin.

GeneReviews summary for NBK1544

Related Diseases for Chondrodysplasia Punctata 1, X-Linked

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Diseases in the X-Linked Chondrodysplasia Punctata family:

Chondrodysplasia Punctata, X-Linked Recessive Chondrodysplasia Punctata, 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:

idRelated DiseaseScoreTop Affiliating Genes
1chondrodysplasia punctata, x-linked recessive12.4

Symptoms for Chondrodysplasia Punctata 1, X-Linked

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Drugs & Therapeutics for Chondrodysplasia Punctata 1, X-Linked

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Interventional clinical trials:

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

Genetic Tests for Chondrodysplasia Punctata 1, X-Linked

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Genetic tests related to Chondrodysplasia Punctata 1, X-Linked:

id Genetic test Affiliating Genes
1 Chondrodysplasia Punctata 1, X-Linked22 ARSE

Anatomical Context for Chondrodysplasia Punctata 1, X-Linked

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

33
Bone, Eye, Skin

Animal Models for Chondrodysplasia Punctata 1, X-Linked or affiliated genes

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Publications for Chondrodysplasia Punctata 1, X-Linked

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Articles related to Chondrodysplasia Punctata 1, X-Linked:

idTitleAuthorsYear
1
The long-term use of cyproterone acetate in pedophilia: a case study. (1291700)
1992

Variations for Chondrodysplasia Punctata 1, X-Linked

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Expression for genes affiliated with Chondrodysplasia Punctata 1, X-Linked

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

Pathways for genes affiliated with Chondrodysplasia Punctata 1, X-Linked

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GO Terms for genes affiliated with Chondrodysplasia Punctata 1, X-Linked

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Sources for Chondrodysplasia Punctata 1, X-Linked

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet