MCID: XLN161
MIFTS: 29

X-Linked Chondrodysplasia Punctata

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

Aliases & Classifications for X-Linked Chondrodysplasia Punctata

MalaCards integrated aliases for X-Linked Chondrodysplasia Punctata:

Name: X-Linked Chondrodysplasia Punctata 12 37 15
Chondrodystrophia Calcificans Congenita 12
Chondrodysplasia Punctata 73

Classifications:



External Ids:

Disease Ontology 12 DOID:0060292
ICD10 33 Q77.3
MeSH 44 C002806
KEGG 37 H01194

Summaries for X-Linked Chondrodysplasia Punctata

MalaCards based summary : X-Linked Chondrodysplasia Punctata, also known as chondrodystrophia calcificans congenita, is related to chondrodysplasia punctata 2, x-linked dominant and chondrodysplasia punctata syndrome. An important gene associated with X-Linked Chondrodysplasia Punctata is ARSE (Arylsulfatase E (Chondrodysplasia Punctata 1)), and among its related pathways/superpathways are Steroid biosynthesis and Sphingolipid metabolism. Related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

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

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

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-117 9.44 PEX5
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.44 PEX5
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-155 9.44 MGP
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 9.44 MGP
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.44 EBP MGP PEX5
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-22 9.44 MGP
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-38 9.44 PEX5
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.44 PEX5
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 9.44 MGP
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-58 9.44 EBP
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-87 9.44 MGP

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:

(show all 11)
# Title Authors Year
1
A case report of a suspected dual diagnosis: 22q11.2 deletion syndrome and X-linked chondrodysplasia punctata. ( 29912012 )
2018
2
Severe X-linked chondrodysplasia punctata in nine new female fetuses. ( 25754886 )
2015
3
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
4
Identification and biochemical characterization of an avian sulfatase homologous to the human ARSE, the gene for X-linked chondrodysplasia punctata. ( 15246527 )
2004
5
Common phenotype and etiology in warfarin embryopathy and X-linked chondrodysplasia punctata (CDPX) ( 10382206 )
1999
6
Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata. ( 9497243 )
1998
7
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
8
Heterozygous expression of X-linked chondrodysplasia punctata. Complex chromosome aberration including deletion of MIC2 and STS. ( 2265834 )
1990
9
Radiological case of the month. Dominant X-linked chondrodysplasia punctata. ( 3177333 )
1988
10
Homologous genes for X-linked chondrodysplasia punctata in man and mouse. ( 6682087 )
1983
11
[Cutaneous signs and symptoms of X-linked chondrodysplasia punctata in man and mouse]. ( 6666923 )
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 KEGG:

37
# Name Kegg Source Accession
1 Steroid biosynthesis hsa00100

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.9 ARSE ARSH STS
2
Show member pathways
11.37 ARSE ARSH STS
3
Show member pathways
11.31 DHCR24 EBP HSD17B7 NSDHL
4
Show member pathways
11.1 HSD17B7 STS
5
Show member pathways
10.8 DHCR24 EBP HSD17B7 NSDHL
6
Show member pathways
10.79 ARSE STS

GO Terms for X-Linked Chondrodysplasia Punctata

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

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.91 ARSE ARSH CD99 CLEC2A DHCR24 EBP
2 membrane GO:0016020 9.9 ARSE ARSH CD99 CLEC2A DHCR24 EBP
3 endoplasmic reticulum membrane GO:0005789 9.35 DHCR24 EBP HSD17B7 NSDHL STS
4 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 13)
# 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 skin development GO:0043588 9.52 DHCR24 SHH
5 hair follicle development GO:0001942 9.51 NSDHL SHH
6 sterol metabolic process GO:0016125 9.49 DHCR24 EBP
7 male genitalia development GO:0030539 9.48 DHCR24 SHH
8 steroid metabolic process GO:0008202 9.46 DHCR24 EBP NSDHL STS
9 sterol biosynthetic process GO:0016126 9.43 DHCR24 EBP NSDHL
10 cholesterol biosynthetic process via lathosterol GO:0033490 9.37 DHCR24 EBP
11 cholesterol biosynthetic process via desmosterol GO:0033489 9.32 DHCR24 EBP
12 steroid biosynthetic process GO:0006694 9.26 DHCR24 EBP HSD17B7 NSDHL
13 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:

# 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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