MCID: CHN038
MIFTS: 34

Chondrodysplasia Punctata, X-Linked Recessive malady

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

Summaries for Chondrodysplasia Punctata, X-Linked Recessive

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NIH Rare Diseases:43 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 chondrodysplasia punctata and chondrodysplasia, 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.

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

Description from OMIM:47 302950

Aliases & Classifications for Chondrodysplasia Punctata, X-Linked Recessive

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Sources:
47OMIM, 11diseasecard, 43NIH Rare Diseases, 49Orphanet, 24GTR, 62UMLS, 36MESH via Orphanet, 28ICD10 via Orphanet, 63UMLS via Orphanet
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Chondrodysplasia Punctata, X-Linked Recessive, Aliases & Descriptions:

Name: Chondrodysplasia Punctata, X-Linked Recessive 47 11
Chondrodysplasia Punctata 1, X-Linked Recessive 47 43
Brachytelephalangic Chondrodysplasia Punctata 43 49
Chondrodysplasia Punctata, Brachytelephalangic, Autosomal 62
Chondrodysplasia Punctata 1 X-Linked Recessive 43
Chondrodysplasia Punctata, Brachytelephalangic 43
 
X-Linked Recessive Chondrodysplasia Punctata 1 24
Chondrodysplasia Punctata Brachytelephalangic 43
Arylsulfatase E Deficiency 43
Cdpx1 43
Cpxr 43


Classifications:



Characteristics (Orphanet epidemiological data):

49
brachytelephalangic chondrodysplasia punctata:
Inheritance: X-linked recessive


External Ids:

OMIM47 302950
Orphanet49 79345
MESH via Orphanet36 C535941
ICD10 via Orphanet28 Q77.3
UMLS via Orphanet63 C1844853

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/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1chondrodysplasia punctata11.0
2chondrodysplasia11.0
3chondrodysplasia punctata 1, x-linked10.5
4cervicitis10.4
5keutel syndrome10.2
6relapsing polychondritis10.2
7chondrodysplasia 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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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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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

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:

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:

7 (show all 11)
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.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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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
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet