MCID: CHN038
MIFTS: 32

Chondrodysplasia Punctata, X-Linked Recessive malady

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

Aliases & Classifications for Chondrodysplasia Punctata, X-Linked Recessive

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 67UniProtKB/Swiss-Prot, 65UMLS, 24GTR, 51Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
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Aliases & Descriptions for Chondrodysplasia Punctata, X-Linked Recessive:

Name: Chondrodysplasia Punctata, X-Linked Recessive 49 11
Chondrodysplasia Punctata 1, X-Linked Recessive 45 67
Chondrodysplasia Punctata Brachytelephalangic 45 67
Brachytelephalangic Chondrodysplasia Punctata 51 65
Cdpx1 45 67
Chondrodysplasia Punctata 1 X-Linked Recessive 45
 
Chondrodysplasia Punctata, Brachytelephalangic 45
X-Linked Recessive Chondrodysplasia Punctata 1 24
X-Linked Chondrodysplasia Punctata 1 65
Arylsulfatase E Deficiency 45
Cpxr 45


Classifications:



Characteristics (Orphanet epidemiological data):

51
brachytelephalangic chondrodysplasia punctata:
Inheritance: X-linked recessive


External Ids:

OMIM49 302950
Orphanet51 79345
ICD10 via Orphanet28 Q77.3
MESH via Orphanet37 C535941
UMLS via Orphanet66 C1844853
MedGen34 C1844853
MeSH36 D002806

Summaries for Chondrodysplasia Punctata, X-Linked Recessive

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NIH Rare Diseases:45 Chondrodysplasia punctata 1, x-linked recessive (cdpx1) is a genetic disorder present from birth that affects bone and cartilage development. on x-ray, affected infants have characteristic spots at the ends of their bones. these spots are called chondrodysplasia punctata or stippled epiphyses and typically disappear between age 2 and 3. additional common features of cdpx1 are shortened fingers and a flat nose. some people with this condition have breathing abnormalities, hearing loss, abnormalities of the spinal bones in the neck, and delayed intellectual development. cdpx1 is caused by changes in the arse gene, which is located on the x chromosome. this condition is inherited in an x-linked recessive manner and occurs almost exclusively in males. most affected individuals have a normal lifespan, although some individuals experience complications that can be life-threatening. last updated: 4/22/2009

MalaCards based summary: Chondrodysplasia Punctata, X-Linked Recessive, also known as chondrodysplasia punctata 1, x-linked recessive, is related to cervicitis and chondrodysplasia punctata, 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 bone, skin and eye.

UniProtKB/Swiss-Prot:67 Chondrodysplasia punctata 1, X-linked recessive: A clinically and genetically heterogeneous disorder characterized by punctiform calcification of the bones. CDPX1 is a congenital defect of bone and cartilage development characterized by aberrant bone mineralization, severe underdevelopment of nasal cartilage, and distal phalangeal hypoplasia. This disease can also be induced by inhibition with the drug warfarin.

Wikipedia:68 X-linked recessive chondrodysplasia punctata is a type of chondrodysplasia punctata that can involve the... more...

Description from OMIM:49 302950

Related Diseases for Chondrodysplasia Punctata, X-Linked Recessive

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Diseases in the X-Linked Chondrodysplasia Punctata family:

chondrodysplasia punctata, x-linked recessive Chondrodysplasia Punctata, X-Linked Dominant
Chondrodysplasia Punctata 1, X-Linked Chondrodysplasia Punctata 2, X-Linked

Diseases related to Chondrodysplasia Punctata, X-Linked Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cervicitis10.4
2chondrodysplasia punctata10.4
3chondrodysplasia punctata 1, x-linked10.3
4keutel syndrome10.2
5relapsing polychondritis10.2
6chondrodysplasia punctata, x-linked dominant10.1

Graphical network of diseases related to Chondrodysplasia Punctata, X-Linked Recessive:



Diseases related to chondrodysplasia punctata, x-linked recessive

Symptoms for Chondrodysplasia Punctata, X-Linked Recessive

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Symptoms by clinical synopsis from OMIM:

302950

Clinical features from OMIM:

302950

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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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Chondrodysplasia Punctata, X-Linked Recessive

Genetic Tests for Chondrodysplasia Punctata, X-Linked Recessive

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Genetic tests related to Chondrodysplasia Punctata, X-Linked Recessive:

id Genetic test Affiliating Genes
1 Chondrodysplasia Punctata 1, X-Linked Recessive24

Anatomical Context for Chondrodysplasia Punctata, X-Linked Recessive

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

33
Bone, Skin, Eye

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:

67
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:

5 (show all 12)
id Gene Variation 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.337C> T (p.Leu113Phe)single nucleotide variantLikely pathogenicrs145946864GRCh38Chr X, 2953236: 2953236
10ARSENM_000047.2(ARSE): c.119T> G (p.Ile40Ser)single nucleotide variantPathogenicrs80338710GRCh37Chr X, 2876381: 2876381
11ARSENM_000047.2(ARSE): c.1442C> T (p.Thr481Met)single nucleotide variantPathogenicrs80338713GRCh37Chr X, 2853201: 2853201
12ARSENM_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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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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GO Terms for genes affiliated with Chondrodysplasia Punctata, X-Linked Recessive

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Sources for Chondrodysplasia Punctata, X-Linked Recessive

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet