MCID: CHN014
MIFTS: 38

Chondrodysplasia Punctata malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories

Aliases & Classifications for Chondrodysplasia Punctata

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Aliases & Descriptions for Chondrodysplasia Punctata:

Name: Chondrodysplasia Punctata 10 47 12 65 36
Chondrodysplasia Punctata Syndrome 45 24 65
Chondrodysplasia Punctata, X-Linked Dominant Type 65
 
Chondrodysplasia Calcificans Congenita 10
Chondrodysplasia Punctata Congenita 10
Toriello Higgins Miller Syndrome 45


Classifications:



External Ids:

Disease Ontology10 DOID:2581
MeSH36 D002806
NCIt42 C84632
ICD1027 Q77.3

Summaries for Chondrodysplasia Punctata

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MalaCards based summary: Chondrodysplasia Punctata, also known as chondrodysplasia punctata syndrome, is related to refsum disease and multiple sulfatase deficiency. An important gene associated with Chondrodysplasia Punctata is ARSE (Arylsulfatase E (Chondrodysplasia Punctata 1)), and among its related pathways are Estrogen metabolism and Sphingolipid metabolism. Affiliated tissues include bone, spinal cord and skin.

Related Diseases for Chondrodysplasia Punctata

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Diseases in the Chondrodysplasia Punctata family:

Autosomal Dominant Chondrodysplasia Punctata

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

(show top 50)    (show all 95)
idRelated DiseaseScoreTop Affiliating Genes
1refsum disease30.0GNPAT, PEX26, PEX5, PEX7, PHYH
2multiple sulfatase deficiency29.9ARSH, STS
3rhizomelic chondrodysplasia punctata11.2
4chondrodysplasia punctata, rhizomelic, type 110.9
5chondrodysplasia punctata, rhizomelic, type 210.9
6chondrodysplasia punctata, rhizomelic, type 310.8
7chondrodysplasia punctata, x-linked recessive10.8
8chondrodysplasia punctata, x-linked dominant10.8
9x-linked chondrodysplasia punctata10.8
10chondrodysplasia punctata 1, x-linked10.8
11chondrodysplasia punctata 2, x-linked10.8
12ichthyosis10.7
13cervicitis10.7
14chondrodysplasia punctata, tibia metacarpal type10.7
15autosomal dominant chondrodysplasia punctata10.6
16peroxisome disorders10.6
17chondrodysplasia punctata, unclassified10.6
18zellweger syndrome10.5
19lupus erythematosus10.5
20chondrodysplasia punctata, tibial-metacarpal type10.5
21cataract10.5
22chondrodysplasia punctata sheffield type10.5
23chondrodysplasia punctata, humero-metacarpal type10.5
24rhizomelic chondrodysplasia punctata spectrum10.5
25chondrodysplasia punctata, toriello type10.5
26systemic lupus erythematosus10.4
27peroxisome biogenesis disorder 9b10.4
28kallmann syndrome10.4
29chondrodysplasia punctata with steroid sulfatase deficiency10.4
30peroxisome biogenesis disorder 6a10.3
31peroxisome biogenesis disorder 13a10.3
32peroxisome biogenesis disorder 12a10.3
33greenberg skeletal dysplasia10.3
34peroxisome biogenesis disorder 11a10.3
35peroxisome biogenesis disorder 4a10.3
36peroxisome biogenesis disorder 10a10.3
37peroxisome biogenesis disorder 1a10.3
38peroxisome biogenesis disorder 5a10.3
39peroxisome biogenesis disorder 8a,10.3
40smith-lemli-opitz syndrome10.3
41peroxisome biogenesis disorder 2a10.3
42peroxisome biogenesis disorder 3a10.3
43peroxisome biogenesis disorder 7a10.3
44adrenoleukodystrophy10.3
45osteogenesis imperfecta10.3
46mixed connective tissue disease10.3
47connective tissue disease10.3
48maxillonasal dysplasia10.3
49epiphyseal dysplasia, multiple, 510.2
50epiphyseal dysplasia, multiple, 410.2

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



Diseases related to chondrodysplasia punctata

Symptoms for Chondrodysplasia Punctata

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Drugs & Therapeutics for Chondrodysplasia Punctata

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Transcranial Magnetic Stimulation (TMS) Studies of DystoniaCompletedNCT00017875
2Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)RecruitingNCT01668186

Search NIH Clinical Center for Chondrodysplasia Punctata


Cochrane evidence based reviews: Chondrodysplasia Punctata

Genetic Tests for Chondrodysplasia Punctata

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Genetic tests related to Chondrodysplasia Punctata:

id Genetic test Affiliating Genes
1 Chondrodysplasia Punctata24

Anatomical Context for Chondrodysplasia Punctata

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MalaCards organs/tissues related to Chondrodysplasia Punctata:

33
Bone, Spinal cord, Skin, Heart, Testes, Brain, Liver

Animal Models for Chondrodysplasia Punctata or affiliated genes

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Publications for Chondrodysplasia Punctata

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Articles related to Chondrodysplasia Punctata:

(show top 50)    (show all 271)
idTitleAuthorsYear
1
Chondrodysplasia punctata tibia metacarpal type: report of a 1.5 year old child with severe short stature and extensive calcific stippling. (25602717)
2015
2
An Atypical form Rhizomelic Chondrodysplasia Punctata in a Newborn. (24049758)
2013
3
Rhizomelic chondrodysplasia punctata with maternal systemic lupus erythromatosus. (23942406)
2013
4
Brachytelephalangic chondrodysplasia punctata: a case series to further delineate the phenotype. (22581171)
2012
5
Rhizomelic chondrodysplasia punctata type 1 and fulminant neonatal respiratory failure, a case report and discussion of pathophysiology. (22052861)
2011
6
Rhizomelic chondrodysplasia punctata: a classic 'spot' diagnosis. (22692643)
2011
7
Maternal mixed connective tissue disease and offspring with chondrodysplasia punctata. (19110299)
2010
8
Chondrodysplasia punctata associated with tetralogy of Fallot in a newborn infant. (20681228)
2010
9
Binder phenotype and brachytelephalangic chondrodysplasia punctata secondary to maternal vitamin K deficiency. (20177377)
2010
10
Chondrodysplasia punctata: a clinical diagnostic and radiological review. (18978650)
2008
11
Cervical spinal cord compression in chondrodysplasia punctata. Case illustration. (16572643)
2006
12
Prenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata by detection of rhizomelic shortening and bilateral cataracts. (15824492)
2005
13
Chondrodysplasia punctata in siblings and maternal lupus erythematosus. (15521983)
2004
14
Identification and biochemical characterization of an avian sulfatase homologous to the human ARSE, the gene for X-linked chondrodysplasia punctata. (15246527)
2004
15
Ichthyosis and keratotic follicular plugs containing dystrophic calcification in newborns: distinctive histopathologic features of x-linked dominant chondrodysplasia punctata (Conradi-HA1nermann-Happle syndrome). (14726822)
2004
16
Vitreoretinal abnormalities in the Conradi-Hunermann form of chondrodysplasia punctata. (15205255)
2004
17
Novel mutations in X-linked dominant chondrodysplasia punctata (CDPX2). (14632217)
2003
18
Greenberg dysplasia (HEM) and lethal X linked dominant Conradi-HA1nermann chondrodysplasia punctata (CDPX2): presentation of two cases with overlapping phenotype. (14684697)
2003
19
Cervical spine stenosis and possible vitamin K deficiency embryopathy in an unusual case of chondrodysplasia punctata and an updated classification system. (12949976)
2003
20
Second-trimester sonographic diagnosis of nonrhizomelic chondrodysplasia punctata. (11883546)
2002
21
Images in clinical medicine. Chondrodysplasia punctata. (12110739)
2002
22
Spinal deformity in chondrodysplasia punctata. (12634559)
2002
23
MR imaging and MR spectroscopy in rhizomelic chondrodysplasia punctata. (11901023)
2002
24
Lethal form of chondrodysplasia punctata with normal plasmalogen and cholesterol biosynthesis. (11169563)
2001
25
What syndrome is this? X-linked dominant chondrodysplasia punctata (Happle). (11737694)
2001
26
A case of chondrodysplasia punctata with features of osteogenesis imperfecta type II. (11400945)
2001
27
Chondrodysplasia punctata, tibial-metacarpal type in a 16 week fetus. (11026586)
2000
28
Cerebellar atrophy in chronic rhizomelic chondrodysplasia punctata: a potential role for phytanic acid and calcium in the death of its Purkinje cells. (10442551)
1999
29
X-linked dominant chondrodysplasia punctata: a peroxisomal disorder? (9677071)
1998
30
Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2. (9536089)
1998
31
Refinement of the locus for X-linked recessive chondrodysplasia punctata. (7759082)
1995
32
High-density physical mapping of a 3-Mb region in Xp22.3 and refined localization of the gene for X-linked recessive chondrodysplasia punctata (CDPX1). (7601447)
1995
33
Prenatal ultrasound diagnosis of rhizomelic chondrodysplasia punctata in a primigravida. (7991519)
1994
34
Mutational analysis of the biglycan gene excludes it as a candidate for X-linked dominant chondrodysplasia punctata, dyskeratosis congenita, and incontinentia pigmenti. (8178833)
1994
35
Brachytelephalangic chondrodysplasia punctata in an extremely premature infant. (7802043)
1994
36
Chondrodysplasia Punctata 2, X-Linked (21634086)
1993
37
Profiles of very-long-chain fatty acids in plasma, fibroblasts, and blood cells in Zellweger syndrome, X-linked adrenoleukodystrophy, and rhizomelic chondrodysplasia punctata. (8353949)
1993
38
Ultrastructure and immunocytochemistry of hepatic peroxisomes in rhizomelic chondrodysplasia punctata. (1468458)
1992
39
Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata, ichthyosis, and Kallmann syndrome due to an Xp deletion. (1557308)
1992
40
Studies of vertebral coronal cleft in rhizomelic chondrodysplasia punctata. (1409157)
1992
41
Chondrodysplasia punctata: further evidence of heterogeneity. (1342864)
1992
42
Generalized chondrodysplasia punctata with shortness of humeri and brachymetacarpy: humero-metacarpal (HM) type: variation or heterogeneity? (1776629)
1991
43
Very large peroxisomes in distinct peroxisomal disorders (rhizomelic chondrodysplasia punctata and acyl-CoA oxidase deficiency): novel data. (1750197)
1991
44
The syndrome page. X-linked dominant chondrodysplasia punctata (Conradi-HA1nermann syndrome). (2748475)
1989
45
Radiological case of the month. Dominant X-linked chondrodysplasia punctata. (3177333)
1988
46
Peroxisomal dysfunction in chondrodysplasia punctata, rhizomelic type. (3438058)
1987
47
Dominant chondrodysplasia punctata with neurologic symptoms. (6683813)
1983
48
Chondrodysplasia punctata after warfarin in early pregnancy. Case report and summary of the literature. (7377833)
1980
49
Skin markers of X-linked dominant chondrodysplasia punctata. (464620)
1979
50
Sex-linked type of chondrodysplasia punctata due to a new mutation. (546029)
1979

Variations for Chondrodysplasia Punctata

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Expression for genes affiliated with Chondrodysplasia Punctata

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Search GEO for disease gene expression data for Chondrodysplasia Punctata.

Pathways for genes affiliated with Chondrodysplasia Punctata

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GO Terms for genes affiliated with Chondrodysplasia Punctata

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

idNameGO IDScoreTop Affiliating Genes
1peroxisomal membraneGO:00057789.5AGPS, GNPAT, PEX5
2endoplasmic reticulum lumenGO:00057889.1ARSE, ARSH, STS
3intracellular membrane-bounded organelleGO:00432319.0ACAA1, AGPS, EBP, STS
4peroxisomal matrixGO:00057828.4ACAA1, AGPS, GNPAT, PEX5, PEX7, PHYH
5peroxisomeGO:00057777.5ACAA1, AGPS, GNPAT, PEX26, PEX5, PEX7

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1peroxisome organizationGO:000703110.2PEX5, PEX7
2protein targeting to peroxisomeGO:000662510.2PEX5, PEX7
3very long-chain fatty acid metabolic processGO:000003810.2ACAA1, PEX5
4ether lipid biosynthetic processGO:000861110.2AGPS, GNPAT, PEX7
5protein import into peroxisome membraneGO:00450469.8PEX26, PEX5
6fatty acid beta-oxidationGO:00066359.7ACAA1, PEX5, PEX7
7glycosphingolipid metabolic processGO:00066879.6ARSE, ARSH, STS
8sphingolipid metabolic processGO:00066659.6ARSE, ARSH, STS
9protein import into peroxisome matrixGO:00165589.4PEX26, PEX5, PEX7
10cellular lipid metabolic processGO:00442558.7ACAA1, AGPS, GNPAT, PEX5, PHYH
11metabolic processGO:00081528.4ACAA1, ARSE, ARSH, GNPAT, STS
12small molecule metabolic processGO:00442817.2ACAA1, AGPS, ARSE, ARSH, EBP, GNPAT

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

idNameGO IDScoreTop Affiliating Genes
1arylsulfatase activityGO:00040659.9ARSE, ARSH
2sulfuric ester hydrolase activityGO:00084849.4ARSE, ARSH, STS
3catalytic activityGO:00038247.5ACAA1, AGPS, ARSE, ARSH, GNPAT, PHYH

Sources for Chondrodysplasia Punctata

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet