MCID: CHN038
MIFTS: 21

Chondrodysplasia Punctata, X-Linked Recessive malady

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

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Sources:
65Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:65 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 and chondrodysplasia punctata 1, x-linked recessive. 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:47 302950,602497

Aliases & Classifications for Chondrodysplasia Punctata, X-Linked Recessive

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Sources:
47OMIM, 49Orphanet, 62UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
brachytelephalangic chondrodysplasia punctata:
Inheritance: X-linked recessive


Aliases & Descriptions:

chondrodysplasia punctata, x-linked recessive 47
chondrodysplasia punctata, brachytelephalangic, autosomal 62
brachytelephalangic chondrodysplasia punctata 49


External Ids:

MESH via Orphanet36 C535941
ICD10 via Orphanet26 Q77.3
UMLS via Orphanet63 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
1chondrodysplasia11.0
2chondrodysplasia punctata 1, x-linked recessive10.5
3cervicitis10.4

Symptoms for Chondrodysplasia Punctata, X-Linked Recessive

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47OMIM
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Symptoms by clinical synopsis from OMIM:

302950

Clinical features from OMIM:

302950,602497

Drugs & Therapeutics for Chondrodysplasia Punctata, X-Linked Recessive

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Chondrodysplasia Punctata, X-Linked Recessive

Search NIH Clinical Center 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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33MalaCards
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MalaCards organs/tissues related to Chondrodysplasia Punctata, X-Linked Recessive:

33
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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Variations for Chondrodysplasia Punctata, X-Linked Recessive

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64UniProtKB/Swiss-Prot, 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Chondrodysplasia Punctata, X-Linked Recessive:

64
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:
2BioGPS, 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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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