CDPX1
MCID: CHN017
MIFTS: 12

Chondrodysplasia Punctata 1, X-Linked (CDPX1) malady

Summaries for Chondrodysplasia Punctata 1, X-Linked

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21Genetics Home Reference, 19GeneReviews, 32MalaCards
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Genetics Home Reference:21 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: Chondrodysplasia Punctata 1, X-Linked, also known as arylsulfatase e deficiency, is related to chondrodysplasia punctata 1, x-linked recessive and 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 cdp1-xlr

Aliases & Classifications for Chondrodysplasia Punctata 1, X-Linked

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19GeneReviews, 20GeneTests, 21Genetics Home Reference, 60UMLS
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Aliases & Descriptions:

chondrodysplasia punctata 1, x-linked 19 20 21
arylsulfatase e deficiency 19 21
cdpx1 19 21
chondrodysplasia punctata, brachytelephalangic 60
x-linked recessive chondrodysplasia punctata 1 21
x-linked chondrodysplasia punctata 1 21


Related Diseases for Chondrodysplasia Punctata 1, X-Linked

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17GeneCards, 18GeneDecks
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Diseases in the Chondrodysplasia Punctata 2, X-Linked family:

chondrodysplasia punctata 1, x-linked Chondrodysplasia Punctata 1, X-Linked Recessive
Chondrodysplasia Punctata 2 X-Linked Dominant Chondrodysplasia Punctata, X-Linked Recessive

Diseases related to Chondrodysplasia Punctata 1, X-Linked via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1chondrodysplasia punctata 1, x-linked recessive10.7
2chondrodysplasia punctata, x-linked recessive10.4
3chondrodysplasia punctata 2, x-linked10.0

Clinical Features for Chondrodysplasia Punctata 1, X-Linked

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Drugs & Therapeutics for Chondrodysplasia Punctata 1, X-Linked

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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

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Genetic Tests for Chondrodysplasia Punctata 1, X-Linked

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20GeneTests
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Genetic tests related to Chondrodysplasia Punctata 1, X-Linked:

id Genetic test Affiliating Genes
1 Chondrodysplasia Punctata 1, X-Linked20 ARSE

Anatomical Context for Chondrodysplasia Punctata 1, X-Linked

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32MalaCards
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MalaCards organs/tissues related to Chondrodysplasia Punctata 1, X-Linked:

32
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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50PubMed
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Articles related to Chondrodysplasia Punctata 1, X-Linked:

idTitleAuthorsYear
1
Chondrodysplasia Punctata 1, X-Linked (20301713)
1993

Genetic 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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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Chondrodysplasia Punctata 1, X-Linked

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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Compounds 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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Products for genes affiliated with Chondrodysplasia Punctata 1, X-Linked

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Chondrodysplasia Punctata 1, X-Linked

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet