MCID: XLN161
MIFTS: 26

X-Linked Chondrodysplasia Punctata

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

Aliases & Classifications for X-Linked Chondrodysplasia Punctata

MalaCards integrated aliases for X-Linked Chondrodysplasia Punctata:

Name: X-Linked Chondrodysplasia Punctata 12 14
Chondrodystrophia Calcificans Congenita 12
Chondrodysplasia Punctata 69

Classifications:



External Ids:

Disease Ontology 12 DOID:0060292
ICD10 33 Q77.3
MeSH 42 C002806

Summaries for X-Linked Chondrodysplasia Punctata

MalaCards based summary : X-Linked Chondrodysplasia Punctata, also known as chondrodystrophia calcificans congenita, is related to chondrodysplasia punctata 1, x-linked and chondrodysplasia punctata 2, x-linked. An important gene associated with X-Linked Chondrodysplasia Punctata is ARSE (Arylsulfatase E (Chondrodysplasia Punctata 1)), and among its related pathways/superpathways are Sphingolipid metabolism and Gamma carboxylation, hypusine formation and arylsulfatase activation.

Related Diseases for X-Linked Chondrodysplasia Punctata

Graphical network of the top 20 diseases related to X-Linked Chondrodysplasia Punctata:



Diseases related to X-Linked Chondrodysplasia Punctata

Symptoms & Phenotypes for X-Linked Chondrodysplasia Punctata

Drugs & Therapeutics for X-Linked Chondrodysplasia Punctata

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

Genetic Tests for X-Linked Chondrodysplasia Punctata

Anatomical Context for X-Linked Chondrodysplasia Punctata

Publications for X-Linked Chondrodysplasia Punctata

Articles related to X-Linked Chondrodysplasia Punctata:

id Title Authors Year
1
Severe X-linked chondrodysplasia punctata in nine new female fetuses. ( 25754886 )
2015
2
Clinical and genetic analysis of a Korean patient with X-linked chondrodysplasia punctata: identification of a novel splicing mutation in the ARSE gene. ( 23462608 )
2013
3
Identification and biochemical characterization of an avian sulfatase homologous to the human ARSE, the gene for X-linked chondrodysplasia punctata. ( 15246527 )
2004
4
Common phenotype and etiology in warfarin embryopathy and X-linked chondrodysplasia punctata (CDPX) ( 10382206 )
1999
5
Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata. ( 9497243 )
1998
6
A 45,X male with an X;Y translocation: implications for the mapping of the genes responsible for Turner syndrome and X-linked chondrodysplasia punctata. ( 8281147 )
1993
7
Heterozygous expression of X-linked chondrodysplasia punctata. Complex chromosome aberration including deletion of MIC2 and STS. ( 2265834 )
1990
8
Radiological case of the month. Dominant X-linked chondrodysplasia punctata. ( 3177333 )
1988
9
Homologous genes for X-linked chondrodysplasia punctata in man and mouse. ( 6682087 )
1983

Variations for X-Linked Chondrodysplasia Punctata

Expression for X-Linked Chondrodysplasia Punctata

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

Pathways for X-Linked Chondrodysplasia Punctata

Pathways related to X-Linked Chondrodysplasia Punctata according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.84 ARSE ARSH STS
2
Show member pathways
11.17 ARSE ARSH STS
3
Show member pathways
11.05 HSD17B7 STS
4
Show member pathways
10.98 DHCR24 EBP HSD17B7 NSDHL
5
Show member pathways
10.69 ARSE STS

GO Terms for X-Linked Chondrodysplasia Punctata

Cellular components related to X-Linked Chondrodysplasia Punctata according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.9 ARSE ARSH CD99 CLEC2A DHCR24 EBP
2 endoplasmic reticulum membrane GO:0005789 9.35 DHCR24 EBP HSD17B7 NSDHL STS
3 endoplasmic reticulum lumen GO:0005788 8.92 ARSE ARSH SHH STS

Biological processes related to X-Linked Chondrodysplasia Punctata according to GeneCards Suite gene sharing:

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.83 DHCR24 EBP HSD17B7 NSDHL STS
2 cholesterol metabolic process GO:0008203 9.63 DHCR24 EBP NSDHL
3 glycosphingolipid metabolic process GO:0006687 9.58 ARSE ARSH STS
4 cell development GO:0048468 9.54 PEX5 SHH
5 skin development GO:0043588 9.52 DHCR24 SHH
6 hair follicle development GO:0001942 9.51 NSDHL SHH
7 sterol metabolic process GO:0016125 9.49 DHCR24 EBP
8 male genitalia development GO:0030539 9.48 DHCR24 SHH
9 steroid metabolic process GO:0008202 9.46 DHCR24 EBP NSDHL STS
10 sterol biosynthetic process GO:0016126 9.43 DHCR24 EBP NSDHL
11 cholesterol biosynthetic process via lathosterol GO:0033490 9.37 DHCR24 EBP
12 cholesterol biosynthetic process via desmosterol GO:0033489 9.32 DHCR24 EBP
13 steroid biosynthetic process GO:0006694 9.26 DHCR24 EBP HSD17B7 NSDHL
14 cholesterol biosynthetic process GO:0006695 8.92 DHCR24 EBP HSD17B7 NSDHL

Molecular functions related to X-Linked Chondrodysplasia Punctata according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 arylsulfatase activity GO:0004065 8.96 ARSE ARSH
2 sulfuric ester hydrolase activity GO:0008484 8.8 ARSE ARSH STS

Sources for X-Linked Chondrodysplasia Punctata

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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