CPXR
MCID: CHN028
MIFTS: 20

Chondrodysplasia Punctata 1, X-Linked Recessive (CPXR) malady

Genetic diseases, Rare diseases, Eye diseases, Bone diseases, Skin diseases, Fetal diseases categories
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Summaries for Chondrodysplasia Punctata 1, X-Linked Recessive

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43NIH Rare Diseases, 33MalaCards
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NIH Rare Diseases:43 Chondrodysplasia punctata 1, x-linked recessive (cdpx1) is a genetic disorder present from birth that affects bone and cartilage development. on x-ray, affected infants have characteristic spots at the ends of their bones. these spots are called chondrodysplasia punctata or stippled epiphyses and typically disappear between age 2 and 3. additional common features of cdpx1 are shortened fingers and a flat nose. some people with this condition have breathing abnormalities, hearing loss, abnormalities of the spinal bones in the neck, and delayed intellectual development. cdpx1 is caused by changes in the arse gene, which is located on the x chromosome. this condition is inherited in an x-linked recessive manner and occurs almost exclusively in males. most affected individuals have a normal lifespan, although some individuals experience complications that can be life-threatening. last updated: 4/22/2009

MalaCards: Chondrodysplasia Punctata 1, X-Linked Recessive, also known as chondrodysplasia punctata 1 x-linked recessive, is related to chondrodysplasia punctata, x-linked recessive and chondrodysplasia. An important gene associated with Chondrodysplasia Punctata 1, X-Linked Recessive is ARSE (arylsulfatase E (chondrodysplasia punctata 1)). Affiliated tissues include bone.

Aliases & Classifications for Chondrodysplasia Punctata 1, X-Linked Recessive

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43NIH Rare Diseases, 22GTR, 62UMLS
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Classifications:



Aliases & Descriptions:

chondrodysplasia punctata 1, x-linked recessive 43
chondrodysplasia punctata 1 x-linked recessive 43 22
chondrodysplasia punctata, brachytelephalangic 43 62
chondrodysplasia punctata brachytelephalangic 43
arylsulfatase e deficiency 43
cdpx1 43
cpxr 43


Related Diseases for Chondrodysplasia Punctata 1, X-Linked Recessive

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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 Recessive via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1chondrodysplasia punctata, x-linked recessive10.4
2chondrodysplasia10.3
3chondrodysplasia punctata 1, x-linked10.2
4chondrodysplasia punctata 2, x-linked10.0

Symptoms for Chondrodysplasia Punctata 1, X-Linked Recessive

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Drugs & Therapeutics for Chondrodysplasia Punctata 1, X-Linked Recessive

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Chondrodysplasia Punctata 1, X-Linked Recessive

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

Genetic Tests for Chondrodysplasia Punctata 1, X-Linked Recessive

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22GTR
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Genetic tests related to Chondrodysplasia Punctata 1, X-Linked Recessive:

id Genetic test Affiliating Genes
1 Chondrodysplasia Punctata 1, X-Linked Recessive22

Anatomical Context for Chondrodysplasia Punctata 1, X-Linked Recessive

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33MalaCards
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MalaCards organs/tissues related to Chondrodysplasia Punctata 1, X-Linked Recessive:

33
Bone

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

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Publications for Chondrodysplasia Punctata 1, X-Linked Recessive

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Variations for Chondrodysplasia Punctata 1, X-Linked Recessive

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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 Recessive:

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 Recessive

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Chondrodysplasia Punctata 1, X-Linked Recessive

Search GEO for disease gene expression data for Chondrodysplasia Punctata 1, X-Linked Recessive.

Pathways for genes affiliated with Chondrodysplasia Punctata 1, X-Linked Recessive

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

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

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

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  • Antibodies
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  • Antibodies

Sources for Chondrodysplasia Punctata 1, X-Linked Recessive

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet