MCID: CHN017
MIFTS: 17

Chondrodysplasia Punctata 1, X-Linked malady

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

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:



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 and chondrodysplasia punctata. An important gene associated with Chondrodysplasia Punctata 1, X-Linked is ARSE (Arylsulfatase E (Chondrodysplasia Punctata 1)). Affiliated tissues include bone, skin and eye.

GeneReviews summary for cdp1-xlr

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 recessive10.8
2chondrodysplasia punctata10.4
3keutel syndrome10.2
4relapsing polychondritis10.2
5chondrodysplasia punctata, x-linked dominant10.1

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



Diseases related to chondrodysplasia punctata 1, x-linked

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, Skin, Eye

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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Clinvar genetic disease variations for Chondrodysplasia Punctata 1, X-Linked:

5 (show all 11)
id Gene Variation 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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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