MCID: CHN038
MIFTS: 23

Chondrodysplasia Punctata, X-Linked Recessive malady

Bone diseases, Metabolic diseases, Fetal diseases categories

Summaries for Chondrodysplasia Punctata, X-Linked Recessive

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 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 cervicitis. An important gene associated with Chondrodysplasia Punctata, X-Linked Recessive is ARSE (arylsulfatase E (chondrodysplasia punctata 1)). Affiliated tissues include skin and bone.

Description from OMIM:46 302950,602497

Aliases & Classifications for Chondrodysplasia Punctata, X-Linked Recessive

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Sources:
46OMIM, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
brachytelephalangic chondrodysplasia punctata:
Inheritance: X-linked recessive


Aliases & Descriptions:

chondrodysplasia punctata, x-linked recessive 46
chondrodysplasia punctata, brachytelephalangic, autosomal 60
brachytelephalangic chondrodysplasia punctata 48


External Ids:

MESH via Orphanet35 C535941
ICD10 via Orphanet26 Q77.3
UMLS via Orphanet61 C1844853

Related Diseases for Chondrodysplasia Punctata, 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, X-Linked Recessive via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1chondrodysplasia punctata 1, x-linked recessive10.5
2cervicitis10.4

Clinical Features for Chondrodysplasia Punctata, X-Linked Recessive

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46OMIM
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Clinical features from OMIM:

302950,602497

Clinical synopsis from OMIM:

302950

Drugs & Therapeutics for Chondrodysplasia Punctata, X-Linked Recessive

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5CenterWatch, 41NIH 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

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Anatomical Context for Chondrodysplasia Punctata, X-Linked Recessive

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32MalaCards
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MalaCards organs/tissues related to Chondrodysplasia Punctata, X-Linked Recessive:

32
Skin, Bone

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

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Publications for Chondrodysplasia Punctata, X-Linked Recessive

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Genetic Variations for Chondrodysplasia Punctata, X-Linked Recessive

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Chondrodysplasia Punctata, X-Linked Recessive:

62
id Symbol AA change Variation ID 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

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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

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

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

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Chondrodysplasia Punctata, X-Linked Recessive

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet