MCID: CHN017
MIFTS: 12

Chondrodysplasia Punctata 1, X-Linked malady

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

Aliases & Classifications for Chondrodysplasia Punctata 1, X-Linked

About this section

Aliases & Descriptions for Chondrodysplasia Punctata 1, X-Linked:

Name: Chondrodysplasia Punctata 1, X-Linked 23 24 25
Arylsulfatase E Deficiency 23 24 25
Cdpx1 23 24 25
X-Linked Chondrodysplasia Punctata 1 25 68
 
X-Linked Recessive Chondrodysplasia Punctata 1 25
Brachytelephalangic Chondrodysplasia Punctata 68
Arylsulfatase E 12

Characteristics:

GeneReviews:

23
Penetrance: penetrance appears to be complete; however, in one report, the pathogenic arse variant p.gly137ala was identified in a proband and his maternal grandfather, the latter of whom was considered asymptomatic [sheffield et al 1998]. this missense substitution involving a conserved amino acid was identified in a second unrelated, clinically affected proband [nino et al 2008], implicating it as pathogenic. in a second, similar case [casarin et al 2009] a deletion of exons 7-10 was identified in a proband and his asymptomatic maternal grandfather. considering that physical features of cdpx1 improve with age, it is uncertain whether such cases represent non-penetrance. ...


Classifications:



Summaries for Chondrodysplasia Punctata 1, X-Linked

About this section
Genetics Home Reference:25 X-linked chondrodysplasia punctata 1 is a disorder of cartilage and bone development that occurs almost exclusively in males. Chondrodysplasia punctata is an abnormality that appears on x-rays as spots (stippling) near the ends of bones and in cartilage. In most infants with X-linked chondrodysplasia punctata 1, this stippling is seen in bones of the ankles, toes, and fingers; however, it can also appear in other bones. The stippling generally disappears in early childhood.

MalaCards based summary: Chondrodysplasia Punctata 1, X-Linked, also known as arylsulfatase e deficiency, is related to chondrodysplasia punctata, x-linked recessive. An important gene associated with Chondrodysplasia Punctata 1, X-Linked is ARSE (Arylsulfatase E (Chondrodysplasia Punctata 1)). Affiliated tissues include bone.

GeneReviews for NBK1544

Related Diseases for Chondrodysplasia Punctata 1, X-Linked

About this section

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 1, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1chondrodysplasia punctata, x-linked recessive12.0

Symptoms & Phenotypes for Chondrodysplasia Punctata 1, X-Linked

About this section

Drugs & Therapeutics for Chondrodysplasia Punctata 1, X-Linked

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Chondrodysplasia Punctata 1, X-Linked

Genetic Tests for Chondrodysplasia Punctata 1, X-Linked

About this section

Genetic tests related to Chondrodysplasia Punctata 1, X-Linked:

id Genetic test Affiliating Genes
1 Chondrodysplasia Punctata 1, X-Linked24 ARSE

Anatomical Context for Chondrodysplasia Punctata 1, X-Linked

About this section

MalaCards organs/tissues related to Chondrodysplasia Punctata 1, X-Linked:

36
Bone

Publications for Chondrodysplasia Punctata 1, X-Linked

About this section

Articles related to Chondrodysplasia Punctata 1, X-Linked:

idTitleAuthorsYear
1
Chondrodysplasia Punctata 1, X-Linked (20301713)
1993

Variations for Chondrodysplasia Punctata 1, X-Linked

About this section

Clinvar genetic disease variations for Chondrodysplasia Punctata 1, X-Linked:

5 (show all 11)
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.119T> G (p.Ile40Ser)SNVPathogenicrs80338710GRCh37Chr X, 2876381: 2876381
10ARSENM_000047.2(ARSE): c.1442C> T (p.Thr481Met)SNVPathogenicrs80338713GRCh37Chr X, 2853201: 2853201
11ARSENM_000047.2(ARSE): c.410G> C (p.Gly137Ala)SNVPathogenicrs80338711GRCh37Chr X, 2871204: 2871204

Expression for genes affiliated with Chondrodysplasia Punctata 1, X-Linked

About this section
Search GEO for disease gene expression data for Chondrodysplasia Punctata 1, X-Linked.

Pathways for genes affiliated with Chondrodysplasia Punctata 1, X-Linked

About this section

GO Terms for genes affiliated with Chondrodysplasia Punctata 1, X-Linked

About this section

Sources for Chondrodysplasia Punctata 1, X-Linked

About this section
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