MCID: CHN038
MIFTS: 27

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:
12diseasecard, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
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Aliases & Descriptions for Chondrodysplasia Punctata, X-Linked Recessive:

Name: Chondrodysplasia Punctata, X-Linked Recessive 52 12
Chondrodysplasia Punctata 1, X-Linked Recessive 48 70
Chondrodysplasia Punctata Brachytelephalangic 48 70
Brachytelephalangic Chondrodysplasia Punctata 54 68
Cdpx1 48 70
Chondrodysplasia Punctata 1 X-Linked Recessive 48
 
Chondrodysplasia Punctata, Brachytelephalangic 48
X-Linked Recessive Chondrodysplasia Punctata 1 27
X-Linked Chondrodysplasia Punctata 1 68
Arylsulfatase E Deficiency 48
Fragile Site 11b 27
Cpxr 48

Characteristics:

Orphanet epidemiological data:

54
brachytelephalangic chondrodysplasia punctata:
Inheritance: X-linked recessive

HPO:

64
chondrodysplasia punctata, x-linked recessive:
Inheritance: x-linked recessive inheritance

Classifications:



External Ids:

OMIM52 302950
Orphanet54 ORPHA79345
MESH via Orphanet40 C535941
UMLS via Orphanet69 C1844853
ICD10 via Orphanet31 Q77.3
MedGen37 C1844853
MeSH39 D002806

Summaries for Chondrodysplasia Punctata, X-Linked Recessive

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NIH Rare Diseases:48 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:70 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:71 X-linked recessive chondrodysplasia punctata is a type of chondrodysplasia punctata that can involve the... more...

Description from OMIM:52 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-linked11.3
2cervicitis10.1

Symptoms & Phenotypes for Chondrodysplasia Punctata, X-Linked Recessive

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Symptoms by clinical synopsis from OMIM:

302950

Clinical features from OMIM:

302950

Human phenotypes related to Chondrodysplasia Punctata, X-Linked Recessive:

 64 (show all 14)
id Description HPO Frequency HPO Source Accession
1 hypogonadism64 HP:0000135
2 microcephaly64 HP:0000252
3 hearing impairment64 HP:0000365
4 short nasal septum64 HP:0000420
5 anosmia64 HP:0000458
6 cataract64 HP:0000518
7 abnormality of the vertebral column64 HP:0000925
8 global developmental delay64 HP:0001263
9 short nose64 HP:0003196
10 short stature64 HP:0004322
11 depressed nasal bridge64 HP:0005280
12 ichthyosis64 HP:0008064
13 short distal phalanx of finger64 HP:0009882
14 epiphyseal stippling64 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 Recessive27
2 Fragile Site 11b27

Anatomical Context for Chondrodysplasia Punctata, X-Linked Recessive

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

36
Bone, Skin

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:

70
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)SNVPathogenicrs122460151GRCh37Chr X, 2876464: 2876464
2ARSENM_000047.2(ARSE): c.349G> A (p.Gly117Arg)SNVPathogenicrs122460152GRCh37Chr X, 2871265: 2871265
3ARSENM_000047.2(ARSE): c.332G> C (p.Arg111Pro)SNVPathogenicrs122460153GRCh37Chr X, 2871282: 2871282
4ARSENM_000047.2(ARSE): c.410G> T (p.Gly137Val)SNVPathogenicrs80338711GRCh37Chr X, 2871204: 2871204
5ARSENM_000047.2(ARSE): c.733G> C (p.Gly245Arg)SNVPathogenicrs122460154GRCh37Chr X, 2867466: 2867466
6ARSENM_000047.2(ARSE): c.1475G> A (p.Cys492Tyr)SNVPathogenicrs122460155GRCh37Chr X, 2853168: 2853168
7ARSENM_000047.2(ARSE): c.1732C> T (p.Pro578Ser)SNVPathogenicrs28935474GRCh37Chr X, 2852911: 2852911
8ARSENM_000047.2(ARSE): c.1743G> A (p.Trp581Ter)SNVPathogenicrs80338714GRCh37Chr X, 2852900: 2852900
9ARSENM_000047.2(ARSE): c.337C> T (p.Leu113Phe)SNVLikely pathogenicrs145946864GRCh38Chr X, 2953236: 2953236
10ARSENM_000047.2(ARSE): c.119T> G (p.Ile40Ser)SNVPathogenicrs80338710GRCh37Chr X, 2876381: 2876381
11ARSENM_000047.2(ARSE): c.1442C> T (p.Thr481Met)SNVPathogenicrs80338713GRCh37Chr X, 2853201: 2853201
12ARSENM_000047.2(ARSE): c.410G> C (p.Gly137Ala)SNVPathogenicrs80338711GRCh37Chr 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet