MCID: CHN038
MIFTS: 28

Chondrodysplasia Punctata, X-Linked Recessive malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Metabolic diseases, Fetal diseases, Eye diseases, Skin diseases

Aliases & Classifications for Chondrodysplasia Punctata, X-Linked Recessive

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Sources:
50OMIM, 12diseasecard, 46NIH Rare Diseases, 68UniProtKB/Swiss-Prot, 66UMLS, 25GTR, 52Orphanet, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
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Aliases & Descriptions for Chondrodysplasia Punctata, X-Linked Recessive:

Name: Chondrodysplasia Punctata, X-Linked Recessive 50 12
Chondrodysplasia Punctata 1, X-Linked Recessive 46 68
Chondrodysplasia Punctata Brachytelephalangic 46 68
Brachytelephalangic Chondrodysplasia Punctata 52 66
Cdpx1 46 68
Chondrodysplasia Punctata 1 X-Linked Recessive 46
 
X-Linked Recessive Chondrodysplasia Punctata 1 25
Chondrodysplasia Punctata, Brachytelephalangic 46
X-Linked Chondrodysplasia Punctata 1 66
Arylsulfatase E Deficiency 46
Cpxr 46

Characteristics:

Orphanet epidemiological data:

52
brachytelephalangic chondrodysplasia punctata:
Inheritance: X-linked recessive

HPO:

62
chondrodysplasia punctata, x-linked recessive:
Inheritance: x-linked recessive inheritance


Classifications:



External Ids:

OMIM50 302950
Orphanet52 ORPHA79345
ICD10 via Orphanet29 Q77.3
MESH via Orphanet38 C535941
UMLS via Orphanet67 C1844853
MedGen35 C1844853
MeSH37 D002806

Summaries for Chondrodysplasia Punctata, X-Linked Recessive

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NIH Rare Diseases:46 Chondrodysplasia punctata 1, x-linked recessive (cdpx1) is a genetic disorder present from birth that affects bone and cartilage development. on x-ray, infants with cdpx1 have characteristic spots at the ends of their bones. these spots are called chondrodysplasia punctata or stippled epiphyses and typically disappear between ages 2 and 3. additional common features of cdpx1 are shortened fingers and a flattened nose. some people with this condition have breathing abnormalities, hearing loss, abnormalities of the spinal bones in the neck, and intellectual delays. cdpx1 is caused by mutations 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. although there is no specific treatment or cure for cdpx1, there are ways to manage symptoms. a team of doctors or specialists is often needed to figure out the treatment options for each person. last updated: 8/10/2016

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

UniProtKB/Swiss-Prot:68 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:69 X-linked recessive chondrodysplasia punctata is a type of chondrodysplasia punctata that can involve the... more...

Description from OMIM:50 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
1chondrodysplasia punctata 1, x-linked11.2
2cervicitis10.3
3chondrodysplasia punctata, x-linked dominant10.0

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 14)
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 short nose HP:0003196
10 short stature HP:0004322
11 depressed nasal bridge HP:0005280
12 ichthyosis HP:0008064
13 short distal phalanx of finger HP:0009882
14 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 Recessive25

Anatomical Context for Chondrodysplasia Punctata, X-Linked Recessive

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

34
Bone, Skin

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:

68
id Symbol AA change Variation ID SNP ID
1ARSEp.Arg12SerVAR_007307rs122460151
2ARSEp.Arg111ProVAR_007308rs122460153
3ARSEp.Gly117ArgVAR_007309rs122460152
4ARSEp.Gly137ValVAR_007310rs80338711
5ARSEp.Gly245ArgVAR_007311rs122460154
6ARSEp.Cys492TyrVAR_007312rs122460155
7ARSEp.Ile80AsnVAR_023570
8ARSEp.Thr481MetVAR_023571rs80338713
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 pathogenicrs145946864GRCh37Chr X, 2871277: 2871277
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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet