CDPX1
MCID: XLN227
MIFTS: 19

X-Linked Chondrodysplasia Punctata 1 (CDPX1)

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

Aliases & Classifications for X-Linked Chondrodysplasia Punctata 1

MalaCards integrated aliases for X-Linked Chondrodysplasia Punctata 1:

Name: X-Linked Chondrodysplasia Punctata 1 12 25 15
Chondrodysplasia Punctata 1, X-Linked 24 25
Arylsulfatase E Deficiency 24 25
Cdpx1 24 25
Chondrodysplasia Punctata, Type 1, X-Linked Recessive 40
X-Linked Recessive Chondrodysplasia Punctata 1 25
Chondrodystrophia Calcificans Congenita 12
Arylsulfatase E 13

Characteristics:

GeneReviews:

24
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:



External Ids:

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

Summaries for X-Linked Chondrodysplasia Punctata 1

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 : X-Linked Chondrodysplasia Punctata 1, also known as chondrodysplasia punctata 1, x-linked, is related to chondrodysplasia punctata syndrome and chondrodysplasia punctata 1, x-linked recessive. An important gene associated with X-Linked Chondrodysplasia Punctata 1 is EBP (EBP, Cholestenol Delta-Isomerase). Affiliated tissues include bone, skin and eye.

GeneReviews: NBK1544

Related Diseases for X-Linked Chondrodysplasia Punctata 1

Diseases in the Chondrodysplasia Punctata 2, X-Linked Dominant family:

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

Diseases related to X-Linked Chondrodysplasia Punctata 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 chondrodysplasia punctata syndrome 30.1 ARSE EBP
2 chondrodysplasia punctata 1, x-linked recessive 11.5
3 chondrodysplasia punctata 2, x-linked dominant 11.4
4 pancreatic ductal adenocarcinoma 10.4
5 chondrodysplasia punctata, brachytelephalangic, autosomal 10.1
6 keutel syndrome 10.0
7 relapsing polychondritis 10.0

Graphical network of the top 20 diseases related to X-Linked Chondrodysplasia Punctata 1:



Diseases related to X-Linked Chondrodysplasia Punctata 1

Symptoms & Phenotypes for X-Linked Chondrodysplasia Punctata 1

Drugs & Therapeutics for X-Linked Chondrodysplasia Punctata 1

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

Genetic Tests for X-Linked Chondrodysplasia Punctata 1

Anatomical Context for X-Linked Chondrodysplasia Punctata 1

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

41
Bone, Skin, Eye

Publications for X-Linked Chondrodysplasia Punctata 1

Articles related to X-Linked Chondrodysplasia Punctata 1:

# Title Authors Year
1
Keutel syndrome: report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis. ( 24458983 )
2014

Variations for X-Linked Chondrodysplasia Punctata 1

Expression for X-Linked Chondrodysplasia Punctata 1

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

Pathways for X-Linked Chondrodysplasia Punctata 1

GO Terms for X-Linked Chondrodysplasia Punctata 1

Biological processes related to X-Linked Chondrodysplasia Punctata 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 8.62 ARSE EBP

Sources for X-Linked Chondrodysplasia Punctata 1

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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