CDPX1
MCID: CHN017
MIFTS: 10

Chondrodysplasia Punctata 1, X-Linked (CDPX1) malady

Summaries for Chondrodysplasia Punctata 1, X-Linked

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21Genetics Home Reference, 19GeneReviews, 33MalaCards
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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. An important gene associated with Chondrodysplasia Punctata 1, X-Linked is ARSE (arylsulfatase E (chondrodysplasia punctata 1)).

GeneReviews summary for cdp1-xlr

Aliases & Classifications for Chondrodysplasia Punctata 1, X-Linked

Sources:
19GeneReviews, 20GeneTests, 21Genetics Home Reference, 61UMLS
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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 61
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 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
2chondrodysplasia10.4
3chondrodysplasia punctata, x-linked recessive10.2
4chondrodysplasia punctata 2, x-linked10.0
5chondrodysplasia punctata syndrome10.0

Graphical network of diseases related to Chondrodysplasia Punctata 1, X-Linked:



Diseases related to chondrodysplasia punctata 1, x-linked

Clinical Features for Chondrodysplasia Punctata 1, X-Linked

Drugs & Therapeutics for Chondrodysplasia Punctata 1, X-Linked

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5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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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

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

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28inGenious Targeting Laboratory
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Publications for Chondrodysplasia Punctata 1, X-Linked

Genetic Variations for Chondrodysplasia Punctata 1, X-Linked

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

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

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

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

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

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Sources for Chondrodysplasia Punctata 1, X-Linked

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet