MCID: CHN038
MIFTS: 16

Chondrodysplasia Punctata, X-Linked Recessive malady

Bone, Metabolic, Fetal categories

Summaries for Chondrodysplasia Punctata, X-Linked Recessive

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 X-linked recessive chondrodysplasia punctata is a type of chondrodysplasia punctata that can involve the... more...

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

Description from OMIM:47 302950,602497

Aliases & Classifications for Chondrodysplasia Punctata, X-Linked Recessive

Sources:
47OMIM, 49Orphanet, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Bone, Metabolic


Characteristics (Orphanet epidemiological data):

49
brachytelephalangic chondrodysplasia punctata:
Inheritance: X-linked recessive


Aliases & Descriptions:

chondrodysplasia punctata, x-linked recessive 47
chondrodysplasia punctata, brachytelephalangic, autosomal 61
brachytelephalangic chondrodysplasia punctata 49


External Ids:

MESH via Orphanet36 C535941
ICD10 via Orphanet26 Q77.3
UMLS via Orphanet62 C1844853

Related Diseases for Chondrodysplasia Punctata, X-Linked Recessive

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17GeneCards, 18GeneDecks
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Diseases related to Chondrodysplasia Punctata, X-Linked Recessive via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1chondrodysplasia punctata 1, x-linked recessive10.5
2chondrodysplasia10.4

Clinical Features for Chondrodysplasia Punctata, X-Linked Recessive

Sources:
47OMIM
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Clinical features from OMIM:

302950,602497

Clinical synopsis from OMIM:

302950

Drugs & Therapeutics for Chondrodysplasia Punctata, X-Linked Recessive

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

Search CenterWatch for Chondrodysplasia Punctata, X-Linked Recessive

Drug clinical trials:

Search ClinicalTrials for Chondrodysplasia Punctata, X-Linked Recessive

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

Search CenterWatch for Chondrodysplasia Punctata, X-Linked Recessive

Genetic Tests for Chondrodysplasia Punctata, X-Linked Recessive

Anatomical Context for Chondrodysplasia Punctata, X-Linked Recessive

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

33
Skin

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

Sources:
28inGenious Targeting Laboratory
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Publications for Chondrodysplasia Punctata, X-Linked Recessive

Sources:
51PubMed
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Articles related to Chondrodysplasia Punctata, X-Linked Recessive:

idTitleAuthorsYear
1
Prenatal findings in a fetus with contiguous gene syndrome caused by deletion of Xp22.3 that includes locus for X-linked recessive type of chondrodysplasia punctata (CDPX1). (20598055)
2010
2
High-density physical mapping of a 3-Mb region in Xp22.3 and refined localization of the gene for X-linked recessive chondrodysplasia punctata (CDPX1). (7601447)
1995
3
A patient with an interstitial deletion in Xp22.3 locates the gene for X-linked recessive chondrodysplasia punctata to within a one megabase interval. (8168818)
1994
4
An interstitial deletion in Xp22.3 in a family with X-linked recessive chondrodysplasia punctata and short stature. (2370057)
1990

Genetic Variations for Chondrodysplasia Punctata, X-Linked Recessive

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Chondrodysplasia Punctata, X-Linked Recessive:

63
id Symbol AA change Variation SNP ID
1ARSEp.Arg12SerVAR_007307
2ARSEp.Arg111ProVAR_007308
3ARSEp.Gly117ArgVAR_007309
4ARSEp.Gly137ValVAR_007310
5ARSEp.Gly245ArgVAR_007311
6ARSEp.Cys492TyrVAR_007312
7ARSEp.Ile80AsnVAR_023570
8ARSEp.Thr481MetVAR_023571
9ARSEp.Pro578SerVAR_023572rs28935474

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

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

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

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

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

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

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Chondrodysplasia Punctata, X-Linked Recessive

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