CDPX1
MCID: CHN017
MIFTS: 15

Chondrodysplasia Punctata 1, X-Linked (CDPX1) malady

Genetic diseases, Eye diseases, Bone diseases, Skin diseases, Fetal diseases, Rare diseases categories

Summaries for Chondrodysplasia Punctata 1, X-Linked

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22Genetics Home Reference, 20GeneReviews, 34MalaCards
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Genetics Home Reference:22 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

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20GeneReviews, 21GeneTests, 22Genetics Home Reference, 63UMLS
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Classifications:



Aliases & Descriptions:

chondrodysplasia punctata 1, x-linked 20 21 22
arylsulfatase e deficiency 20 22
cdpx1 20 22
chondrodysplasia punctata, brachytelephalangic 63
x-linked recessive chondrodysplasia punctata 1 22
x-linked chondrodysplasia punctata 1 22


Related Diseases for Chondrodysplasia Punctata 1, X-Linked

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18GeneCards, 19GeneDecks
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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
2chondrodysplasia10.4
3chondrodysplasia punctata 2, x-linked10.0

Symptoms for Chondrodysplasia Punctata 1, X-Linked

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Drugs & Therapeutics for Chondrodysplasia Punctata 1, X-Linked

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Chondrodysplasia Punctata 1, X-Linked

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21GeneTests
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Genetic tests related to Chondrodysplasia Punctata 1, X-Linked:

id Genetic test Affiliating Genes
1 Chondrodysplasia Punctata 1, X-Linked21 ARSE

Anatomical Context for Chondrodysplasia Punctata 1, X-Linked

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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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53PubMed
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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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Chondrodysplasia Punctata 1, X-Linked:

1 (show all 11)
id Gene Name Type Significance SNP ID Assembly Location
1ARSENM_000047.2(ARSE): c.36G> C (p.Arg12Ser)single nucleotide variantPathogenicrs122460151GRCh37Chr X, 2876464: 2876464
2ARSENM_000047.2(ARSE): c.349G> A (p.Gly117Arg)single nucleotide variantPathogenicrs122460152GRCh37Chr X, 2871265: 2871265
3ARSENM_000047.2(ARSE): c.332G> C (p.Arg111Pro)single nucleotide variantPathogenicrs122460153GRCh37Chr X, 2871282: 2871282
4ARSENM_000047.2(ARSE): c.410G> T (p.Gly137Val)single nucleotide variantPathogenicrs80338711GRCh37Chr X, 2871204: 2871204
5ARSENM_000047.2(ARSE): c.733G> C (p.Gly245Arg)single nucleotide variantPathogenicrs122460154GRCh37Chr X, 2867466: 2867466
6ARSENM_000047.2(ARSE): c.1475G> A (p.Cys492Tyr)single nucleotide variantPathogenicrs122460155GRCh37Chr X, 2853168: 2853168
7ARSENM_000047.2(ARSE): c.1732C> T (p.Pro578Ser)single nucleotide variantPathogenicrs28935474GRCh37Chr X, 2852911: 2852911
8ARSENM_000047.2(ARSE): c.1743G> A (p.Trp581Ter)single nucleotide variantPathogenicrs80338714GRCh37Chr X, 2852900: 2852900
9ARSENM_000047.2(ARSE): c.119T> G (p.Ile40Ser)single nucleotide variantPathogenicrs80338710GRCh37Chr X, 2876381: 2876381
10ARSENM_000047.2(ARSE): c.1442C> T (p.Thr481Met)single nucleotide variantPathogenicrs80338713GRCh37Chr X, 2853201: 2853201
11ARSENM_000047.2(ARSE): c.410G> C (p.Gly137Ala)single nucleotide variantPathogenicrs80338711GRCh37Chr X, 2871204: 2871204

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

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Chondrodysplasia Punctata 1, X-Linked

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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
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Sources for Chondrodysplasia Punctata 1, X-Linked

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet