MCID: CHN038
MIFTS: 24

Chondrodysplasia Punctata, X-Linked Recessive malady

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

Summaries for Chondrodysplasia Punctata, X-Linked Recessive

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Wikipedia:64 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 hypogonadism, microcephaly and hearing impairment. 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

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Sources:
46OMIM, 48Orphanet, 61UMLS, 35MESH via Orphanet, 27ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

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

Name: Chondrodysplasia Punctata, X-Linked Recessive 46
Chondrodysplasia Punctata, Brachytelephalangic, Autosomal 61
 
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 Orphanet27 Q77.3
UMLS via Orphanet62 C1844853

Related Diseases for Chondrodysplasia Punctata, X-Linked Recessive

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

Symptoms for Chondrodysplasia Punctata, X-Linked Recessive

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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

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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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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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Variations for Chondrodysplasia Punctata, X-Linked Recessive

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

63
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:

7 (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

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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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Sources for Chondrodysplasia Punctata, X-Linked Recessive

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet