MCID: XLN227
MIFTS: 20

X-Linked Chondrodysplasia Punctata 1

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 26 15
Chondrodysplasia Punctata 1, X-Linked 25 26
Arylsulfatase E Deficiency 25 26
Cdpx1 25 26
Chondrodysplasia Punctata, Type 1, X-Linked Recessive 41
X-Linked Recessive Chondrodysplasia Punctata 1 26
Chondrodystrophia Calcificans Congenita 12
Arylsulfatase E 13

Characteristics:

GeneReviews:

25
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
MeSH 45 C002806
ICD10 34 Q77.3

Summaries for X-Linked Chondrodysplasia Punctata 1

Genetics Home Reference : 26 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.

Disease Ontology : 12 A chondrodysplasia punctata that is characterized by maxillary hypoplasia, stippled chondrodystrophy, flat nasal tip and short columella, has material basis in X-linked recessive inheritance, has material basis in deficiency of arylsulfatase E. and is associated with associated with vitamin K-related teratogenicity.

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 29.8 ARSE EBP
2 chondrodysplasia punctata 1, x-linked recessive 11.5
3 chondrodysplasia punctata 2, x-linked dominant 11.5
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:

42
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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