MCID: CHN038
MIFTS: 22

Chondrodysplasia Punctata, X-Linked Recessive malady

Genetic diseases, Bone diseases, Metabolic diseases, Fetal diseases, Rare diseases, Eye diseases, Skin diseases categories
Download this MalaCard

Summaries for Chondrodysplasia Punctata, X-Linked Recessive

About this section


Fully expand this MalaCard
Wikipedia:65 X-linked recessive chondrodysplasia punctata is a type of chondrodysplasia punctata that can involve the... more...

MalaCards based summary: Chondrodysplasia Punctata, X-Linked Recessive, also known as chondrodysplasia punctata, brachytelephalangic, autosomal, is related to chondrodysplasia and cervicitis, and has symptoms including An important gene associated with Chondrodysplasia Punctata, X-Linked Recessive is ARSE (arylsulfatase E (chondrodysplasia punctata 1)). Affiliated tissues include skin and bone.

Descriptions from OMIM:46 302950,602497

Aliases & Classifications for Chondrodysplasia Punctata, X-Linked Recessive

About this section
Sources:
46OMIM, 48Orphanet, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Chondrodysplasia Punctata, X-Linked Recessive, Aliases & Descriptions:

Name: Chondrodysplasia Punctata, X-Linked Recessive 46
Chondrodysplasia Punctata, Brachytelephalangic, Autosomal 62
 
Brachytelephalangic Chondrodysplasia Punctata 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
brachytelephalangic chondrodysplasia punctata:
Inheritance: X-linked recessive


External Ids:

MESH via Orphanet35 C535941
ICD10 via Orphanet26 Q77.3
UMLS via Orphanet63 C1844853

Related Diseases for Chondrodysplasia Punctata, X-Linked Recessive

About this section

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
2cervicitis10.4
3chondrodysplasia punctata 1, x-linked recessive10.4

Symptoms for Chondrodysplasia Punctata, X-Linked Recessive

About this section

Symptoms by clinical synopsis from OMIM:

302950

Clinical features from OMIM:

302950,602497

HPO human phenotypes related to Chondrodysplasia Punctata, X-Linked Recessive:

(show all 15)
id Description Frequency HPO Source Accession
1 hypogonadism HP:0000135
2 microcephaly HP:0000252
3 hearing impairment HP:0000365
4 short nasal septum HP:0000420
5 anosmia HP:0000458
6 cataract HP:0000518
7 abnormality of the vertebral column HP:0000925
8 global developmental delay HP:0001263
9 x-linked recessive inheritance HP:0001419
10 short nose HP:0003196
11 short stature HP:0004322
12 depressed nasal bridge HP:0005280
13 ichthyosis HP:0008064
14 short distal phalanx of finger HP:0009882
15 epiphyseal stippling HP:0010655

Drugs & Therapeutics for Chondrodysplasia Punctata, X-Linked Recessive

About this section

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

About this section

Anatomical Context for Chondrodysplasia Punctata, X-Linked Recessive

About this section

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

32
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

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

Clinvar genetic disease variations for Chondrodysplasia Punctata, X-Linked Recessive:

6 (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, X-Linked Recessive

About this section
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

Sources for Chondrodysplasia Punctata, X-Linked Recessive

About this section
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet