CDPX1
MCID: XLN227
MIFTS: 25

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
X-Linked Recessive Chondrodysplasia Punctata 1 25
Chondrodystrophia Calcificans Congenita 12

Characteristics:

GeneReviews:

24
Penetrance Penetrance appears to be complete; however, in one report, the pathogenic arsl 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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Disease Ontology 12 DOID:0060292
MeSH 43 C002806
ICD10 32 Q77.3

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. Other characteristic features of X-linked chondrodysplasia punctata 1 include short stature and unusually short fingertips and ends of the toes. This condition is also associated with distinctive facial features, particularly a flattened-appearing nose with crescent-shaped nostrils and a flat nasal bridge. People with X-linked chondrodysplasia punctata 1 typically have normal intelligence and a normal life expectancy. However, some affected individuals have had serious or life-threatening complications including abnormal thickening (stenosis) of the cartilage that makes up the airways, which restricts breathing. Also, abnormalities of spinal bones in the neck can lead to pinching (compression) of the spinal cord, which can cause pain, numbness, and weakness. Other, less common features of X-linked chondrodysplasia punctata 1 include delayed development, hearing loss, vision abnormalities, and heart defects.

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 2, x-linked dominant. An important gene associated with X-Linked Chondrodysplasia Punctata 1 is EBP (EBP Cholestenol Delta-Isomerase). Affiliated tissues include bone, spinal cord and heart, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

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

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

GenomeRNAi Phenotypes related to X-Linked Chondrodysplasia Punctata 1 according to GeneCards Suite gene sharing:

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.36 ARSL POMC
2 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.36 POMC
3 Increased shRNA abundance (Z-score > 2) GR00366-A-106 9.36 ARSL
4 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.36 POMC
5 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.36 ARSL
6 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.36 ARSL
7 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.36 POMC
8 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.36 POMC
9 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.36 POMC
10 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.36 POMC
11 Decreased viability in esophageal squamous lineage GR00235-A 9.13 ARSL EBP POMC

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:

40
Bone, Spinal Cord, Heart, Skin, Eye

Publications for X-Linked Chondrodysplasia Punctata 1

Articles related to X-Linked Chondrodysplasia Punctata 1:

(show top 50) (show all 55)
# Title Authors PMID Year
1
A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations, functional analysis of novel missense alleles, and determination of potential phenocopies. 61 24
23470839 2013
2
Chondrodysplasia punctata associated with maternal Sjögren syndrome. 24
24668828 2014
3
Keutel syndrome: report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis. 24
24458983 2014
4
Phenocopy of warfarin syndrome in an infant born to a mother with sickle cell anemia and severe transfusional iron overload. 24
23018567 2013
5
Maternal vitamin K deficient embryopathy: association with hyperemesis gravidarum and Crohn disease. 24
23404932 2013
6
Brachytelephalangic chondrodysplasia punctata with a new hemizygous missense mutation in a neonate. 24
23401300 2013
7
Clinical and genetic analysis of a Korean patient with X-linked chondrodysplasia punctata: identification of a novel splicing mutation in the ARSE gene. 24
23462608 2013
8
Binder syndrome. 24
22777437 2012
9
Natural history and management of cervical spine disease in chondrodysplasia punctata and coumarin embryopathy. 24
22274407 2012
10
Severe rhizomelic chondrodysplasia punctata in a fetus due to maternal mixed connective tissue disorder. 24
23431749 2012
11
A new case of maternal lupus-associated chondrodysplasia punctata with extensive spinal anomalies. 24
21567922 2011
12
Binder phenotype and brachytelephalangic chondrodysplasia punctata secondary to maternal vitamin K deficiency. 24
20177377 2010
13
Maternal mixed connective tissue disease and offspring with chondrodysplasia punctata. 24
19110299 2010
14
Brachytelephalangic chondrodysplasia punctata: prenatal diagnosis and postnatal outcome. 24
20523025 2010
15
X-linked brachytelephalangic chondrodysplasia punctata: a simple trait that is not so simple. 24
19839041 2009
16
Chondrodysplasia punctata associated with maternal autoimmune diseases: expanding the spectrum from systemic lupus erythematosus (SLE) to mixed connective tissue disease (MCTD) and scleroderma report of eight cases. 24
19006208 2008
17
Chondrodysplasia punctata: a clinical diagnostic and radiological review. 24
18978650 2008
18
Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata. 24
18348268 2008
19
Chondrodysplasia punctata and maternal autoimmune disease: a new case and review of the literature. 24
17671048 2007
20
Brachytelephalangic chondrodysplasia punctata with severe spinal cord compression: report of four new cases. 24
16937129 2007
21
Gray matter heterotopias and brachytelephalangic chondrodysplasia punctata: a complication of hyperemesis gravidarum induced vitamin K deficiency? 24
17163521 2007
22
Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationship. 24
16174644 2005
23
Maxillo-nasal dysplasia (binder syndrome): antenatal discovery and implications. 24
15980645 2005
24
Biliary lithiasis in early pregnancy and abnormal development of facial and distal limb bones (Binder syndrome): a possible role for vitamin K deficiency. 24
15751048 2005
25
Severe tracheobronchial stenosis in the X-linked recessive form of chondrodysplasia punctata. 24
15611404 2004
26
Chondrodysplasia punctata in siblings and maternal lupus erythematosus. 24
15521983 2004
27
Congenital deficiency of vitamin K-dependent coagulation factors associated with central nervous system anomalies. 24
15045146 2004
28
Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2. 24
14765194 2004
29
Longterm follow-up in chondrodysplasia punctata, tibia-metacarpal type, demonstrating natural history. 24
14699613 2004
30
Cervical spine stenosis and possible vitamin K deficiency embryopathy in an unusual case of chondrodysplasia punctata and an updated classification system. 24
12949976 2003
31
The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases. 24
12757706 2003
32
X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability. 24
12567415 2003
33
X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male. 24
12503102 2003
34
Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome). 24
12509714 2002
35
Maxillonasal dysplasia (Binder syndrome): a lateral cephalometric assessment. 24
12462685 2002
36
Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype. 24
12325024 2002
37
Teratogen update: fetal effects after in utero exposure to coumarins overview of cases, follow-up findings, and pathogenesis. 24
12210474 2002
38
[X-linked recessive chondrodysplasia punctata. Cytogenetic study and role of molecular biology]. 24
11232459 2001
39
Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome. 24
10710235 2000
40
Early-infantile galactosialidosis: prenatal presentation and postnatal follow-up. 24
10377011 1999
41
Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome. 24
9916809 1999
42
Segregation of mutations in arylsulphatase E and correlation with the clinical presentation of chondrodysplasia punctata. 24
9863597 1998
43
Vitamin K deficiency embryopathy. 24
9738872 1998
44
Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata. 24
9497243 1998
45
X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene. 24
9409863 1997
46
Vitamin K deficiency embryopathy: a phenocopy of the warfarin embryopathy due to a disorder of embryonic vitamin K metabolism. 24
9382132 1997
47
Chondrodysplasia punctata, humero-metacarpal type: a second case. 24
8862628 1996
48
Prenatal exposure to phenytoin, facial development, and a possible role for vitamin K. 24
8533825 1995
49
A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy. 24
7720070 1995
50
Provisionally unique autosomal recessive chondrodysplasia punctata syndrome. 24
8267015 1993

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 EBP ARSL

Sources for X-Linked Chondrodysplasia Punctata 1

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