MCID: CHN038
MIFTS: 21

Chondrodysplasia Punctata, X-Linked Recessive malady

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

Summaries for Chondrodysplasia Punctata, X-Linked Recessive

About this section
Sources:
66Wikipedia, 48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
Wikipedia:66 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:48 302950,602497

Aliases & Classifications for Chondrodysplasia Punctata, X-Linked Recessive

About this section
Sources:
48OMIM, 50Orphanet, 63UMLS, 37MESH via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

50
brachytelephalangic chondrodysplasia punctata:
Inheritance: X-linked recessive


Aliases & Descriptions:

chondrodysplasia punctata, x-linked recessive 48
chondrodysplasia punctata, brachytelephalangic, autosomal 63
brachytelephalangic chondrodysplasia punctata 50


External Ids:

MESH via Orphanet37 C535941
ICD10 via Orphanet27 Q77.3
UMLS via Orphanet64 C1844853

Related Diseases for Chondrodysplasia Punctata, X-Linked Recessive

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

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

About this section
Sources:
48OMIM
See all sources

Symptoms by clinical synopsis from OMIM:

302950

Clinical features from OMIM:

302950,602497

Drugs & Therapeutics for Chondrodysplasia Punctata, X-Linked Recessive

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

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

About this section

Anatomical Context for Chondrodysplasia Punctata, X-Linked Recessive

About this section
Sources:
34MalaCards
See all sources

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

34
Skin, Bone

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

About this section

Publications for Chondrodysplasia Punctata, X-Linked Recessive

About this section

Variations for Chondrodysplasia Punctata, X-Linked Recessive

About this section
Sources:
65UniProtKB/Swiss-Prot, 8dbSNP
See all sources

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

65
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

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
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

About this section

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

About this section

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

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Chondrodysplasia Punctata, X-Linked Recessive

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet