MCID: CHN017
MIFTS: 14

Chondrodysplasia Punctata 1, X-Linked

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

Aliases & Classifications for Chondrodysplasia Punctata 1, X-Linked

MalaCards integrated aliases for Chondrodysplasia Punctata 1, X-Linked:

Name: Chondrodysplasia Punctata 1, X-Linked 23 24
X-Linked Chondrodysplasia Punctata 1 24 69
Arylsulfatase E Deficiency 23 24
Cdpx1 23 24
X-Linked Recessive Chondrodysplasia Punctata 1 24
Brachytelephalangic Chondrodysplasia Punctata 69
Arylsulfatase E 13

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:



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Summaries for Chondrodysplasia Punctata 1, X-Linked

Genetics Home Reference : 24 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 x-linked chondrodysplasia punctata 1, is related to chondrodysplasia punctata 1, x-linked recessive and chondrodysplasia punctata syndrome. An important gene associated with Chondrodysplasia Punctata 1, X-Linked is ARSE (Arylsulfatase E (Chondrodysplasia Punctata 1)). Affiliated tissues include bone.

GeneReviews: NBK1544

Related Diseases for Chondrodysplasia Punctata 1, X-Linked

Diseases in the X-Linked Chondrodysplasia Punctata family:

Chondrodysplasia Punctata 1, X-Linked Recessive Chondrodysplasia Punctata 2, 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:

# Related Disease Score Top Affiliating Genes
1 chondrodysplasia punctata 1, x-linked recessive 12.7
2 chondrodysplasia punctata syndrome 10.1

Symptoms & Phenotypes for Chondrodysplasia Punctata 1, X-Linked

Drugs & Therapeutics for Chondrodysplasia Punctata 1, X-Linked

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

Genetic Tests for Chondrodysplasia Punctata 1, X-Linked

Anatomical Context for Chondrodysplasia Punctata 1, X-Linked

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

38
Bone

Publications for Chondrodysplasia Punctata 1, X-Linked

Articles related to Chondrodysplasia Punctata 1, X-Linked:

# Title Authors Year
1
Chondrodysplasia Punctata 1, X-Linked ( 20301713 )
1993

Variations for Chondrodysplasia Punctata 1, X-Linked

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ARSE NM_000047.2(ARSE): c.349G> A (p.Gly117Arg) single nucleotide variant Pathogenic rs122460152 GRCh37 Chromosome X, 2871265: 2871265
2 ARSE NM_000047.2(ARSE): c.332G> C (p.Arg111Pro) single nucleotide variant Pathogenic rs122460153 GRCh37 Chromosome X, 2871282: 2871282
3 ARSE NM_000047.2(ARSE): c.410G> T (p.Gly137Val) single nucleotide variant Pathogenic rs80338711 GRCh37 Chromosome X, 2871204: 2871204
4 ARSE NM_000047.2(ARSE): c.733G> C (p.Gly245Arg) single nucleotide variant Pathogenic rs122460154 GRCh37 Chromosome X, 2867466: 2867466
5 ARSE NM_000047.2(ARSE): c.1475G> A (p.Cys492Tyr) single nucleotide variant Pathogenic rs122460155 GRCh37 Chromosome X, 2853168: 2853168
6 ARSE NM_000047.2(ARSE): c.1732C> T (p.Pro578Ser) single nucleotide variant Pathogenic rs28935474 GRCh37 Chromosome X, 2852911: 2852911
7 ARSE NM_000047.2(ARSE): c.1743G> A (p.Trp581Ter) single nucleotide variant Pathogenic rs80338714 GRCh37 Chromosome X, 2852900: 2852900
8 ARSE NM_000047.2(ARSE): c.119T> G (p.Ile40Ser) single nucleotide variant Pathogenic rs80338710 GRCh37 Chromosome X, 2876381: 2876381
9 ARSE NM_000047.2(ARSE): c.1442C> T (p.Thr481Met) single nucleotide variant Pathogenic rs80338713 GRCh37 Chromosome X, 2853201: 2853201

Expression for Chondrodysplasia Punctata 1, X-Linked

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

Pathways for Chondrodysplasia Punctata 1, X-Linked

GO Terms for Chondrodysplasia Punctata 1, X-Linked

Sources for Chondrodysplasia Punctata 1, X-Linked

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70 UMLS via Orphanet
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