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 22 23 24
Arylsulfatase E Deficiency 22 23 24
Cdpx1 22 23 24
X-Linked Chondrodysplasia Punctata 1 24 66
 
X-Linked Recessive Chondrodysplasia Punctata 1 24
Brachytelephalangic Chondrodysplasia Punctata 66
Arylsulfatase E 12

Classifications:



Summaries for Chondrodysplasia Punctata 1, X-Linked

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Genetics Home Reference:24 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.

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 recessive12.0

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-Linked23 ARSE

Anatomical Context for Chondrodysplasia Punctata 1, X-Linked

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

34
Bone

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
Chondrodysplasia Punctata 1, X-Linked (20301713)
1993

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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet