MCID: CHN014
MIFTS: 41

Chondrodysplasia Punctata malady

Rare diseases, Bone diseases, Fetal diseases categories

Aliases & Classifications for Chondrodysplasia Punctata

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Chondrodysplasia Punctata, Aliases & Descriptions:

Name: Chondrodysplasia Punctata 9 41 43 60
Chondrodysplasia Punctata Syndrome 41 22 60
Chondrodysplasia Punctata, X-Linked Dominant Type 60
Chondrodysplasia Calcificans Congenita 9
 
Chondrodysplasia Punctata Congenita 9
Toriello Higgins Miller Syndrome 41
Cdp 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Fetal diseases
Anatomical: Bone diseases


External Ids:

Disease Ontology9 DOID:2581
NCIt38 C84632
MeSH33 D002806
ICD1025 Q77.3

Summaries for Chondrodysplasia Punctata

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Wikipedia:63 Chondrodysplasia punctata is a clinically and genetically diverse group of rare diseases, first... more...

MalaCards based summary: Chondrodysplasia Punctata, also known as chondrodysplasia punctata syndrome, is related to chondrodysplasia punctata, x-linked dominant and rhizomelic chondrodysplasia punctata. An important gene associated with Chondrodysplasia Punctata is EBP (emopamil binding protein (sterol isomerase)), and among its related pathways are triacylglycerol biosynthesis and Peroxisomal lipid metabolism. The compounds phytanic acid and dhap have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, skin and bone, and related mouse phenotypes are growth/size/body and reproductive system.

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
1chondrodysplasia punctata, x-linked dominant31.3EBP, GNPAT
2rhizomelic chondrodysplasia punctata30.9AGPS, PHYH, GNPAT, PEX7
3zellweger syndrome30.3AGPS, PHYH, GNPAT
4refsum disease30.2PHYH, GNPAT, PEX7
5peroxisome disorders30.0PEX7, GNPAT, PHYH, AGPS
6chondrodysplasia11.4
7rhizomelic chondrodysplasia punctata, type 110.9
8chondrodysplasia punctata, rhizomelic, type 210.8
9chondrodysplasia punctata, x-linked recessive10.8
10rhizomelic chondrodysplasia punctata, type 310.8
11x-linked chondrodysplasia punctata10.7
12chondrodysplasia punctata 1, x-linked10.7
13cervicitis10.6
14chondrodysplasia punctata, tibia metacarpal type10.6
15autosomal dominant chondrodysplasia punctata10.6
16chondrodysplasia punctata 2, x-linked10.6
17chondrodysplasia punctata sheffield type10.6
18lupus erythematosus10.5
19chondrodysplasia punctata, tibial-metacarpal type10.5
20cataract10.5
21chondrodysplasia punctata, humero-metacarpal type10.5
22chondrodysplasia punctata, toriello type10.5
23systemic lupus erythematosus10.4
24kallmann syndrome10.4
25chondrodysplasia punctata with steroid sulfatase deficiency10.4
26chondrodysplasia punctata, unclassified10.4
27rhizomelic chondrodysplasia punctata spectrum10.4
28epiphyseal dysplasia, multiple, 410.3
29smith-lemli-opitz syndrome10.3
30greenberg skeletal dysplasia10.3
31mixed connective tissue disease10.3
32osteogenesis imperfecta10.3
33connective tissue disease10.3
34mental retardation10.3
35child syndrome10.3EBP
36lymphedema10.3
37pediatric osteosarcoma10.2
38peroxisomal disease10.2PEX7
39peroxisome biogenesis disorder 6a10.2
40peroxisome biogenesis disorder 13a10.2
41epiphyseal dysplasia, multiple, 210.2
42peroxisome biogenesis disorder 12a10.2
43epiphyseal dysplasia, multiple, 510.2
44peroxisome biogenesis disorder 11a10.2
45peroxisome biogenesis disorder 4a10.2
46peroxisome biogenesis disorder 9b10.2
47peroxisome biogenesis disorder 10a10.2
48peroxisome biogenesis disorder 1a10.2
49osteogenesis imperfecta, type ii10.2
50tetralogy of fallot10.2

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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Drug clinical trials:

Search ClinicalTrials for Chondrodysplasia Punctata

Search NIH Clinical Center for Chondrodysplasia Punctata

Genetic Tests for Chondrodysplasia Punctata

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Genetic tests related to Chondrodysplasia Punctata:

id Genetic test Affiliating Genes
1 Chondrodysplasia Punctata22

Anatomical Context for Chondrodysplasia Punctata

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MalaCards organs/tissues related to Chondrodysplasia Punctata:

31
Spinal cord, Skin, Bone, Brain, Heart, Colon, Liver, Testes

Animal Models for Chondrodysplasia Punctata or affiliated genes

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MGI Mouse Phenotypes related to Chondrodysplasia Punctata:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053788.4PHYH, GNPAT, EBP, PEX7
2MP:00053897.7AGPS, PHYH, GNPAT, PEX7

Publications for Chondrodysplasia Punctata

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Articles related to Chondrodysplasia Punctata:

(show top 50)    (show all 263)
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
Chondrodysplasia punctata, humero-metacarpal type: a second case. (8862628)
1996
32
Refinement of the locus for X-linked recessive chondrodysplasia punctata. (7759082)
1995
33
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
34
Prenatal ultrasound diagnosis of rhizomelic chondrodysplasia punctata in a primigravida. (7991519)
1994
35
Mutational analysis of the biglycan gene excludes it as a candidate for X-linked dominant chondrodysplasia punctata, dyskeratosis congenita, and incontinentia pigmenti. (8178833)
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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Pathways related to Chondrodysplasia Punctata according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
phosphatidylglycerol biosynthesis II (non-plastidic)36
CDP-diacylglycerol biosynthesis I36
Triacylglyceride Synthesis36
9.0GNPAT, AGPS
2
Show member pathways
8.5GNPAT, PHYH, AGPS
38.0AGPS, PHYH, GNPAT, PEX7
4
Show member pathways
7.6EBP, GNPAT, PHYH, AGPS, ARSE

Compounds for genes affiliated with Chondrodysplasia Punctata

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Sources:
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Compounds related to Chondrodysplasia Punctata according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1phytanic acid439.3PHYH, GNPAT
2dhap438.7AGPS, GNPAT
3fatty acid437.9AGPS, PHYH, GNPAT, PEX7

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:00057788.7AGPS, GNPAT
2mitochondrionGO:00057398.5GNPAT, PHYH, AGPS
3peroxisomal matrixGO:00057828.0PEX7, GNPAT, PHYH, AGPS
4peroxisomeGO:00057777.9PEX7, GNPAT, PHYH, AGPS

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

idNameGO IDScoreTop Affiliating Genes
1skeletal system developmentGO:00015019.6ARSE, EBP
2ether lipid biosynthetic processGO:00086118.5AGPS, GNPAT, PEX7
3cellular lipid metabolic processGO:00442558.2AGPS, PHYH, GNPAT
4small molecule metabolic processGO:00442817.5EBP, GNPAT, PHYH, AGPS, ARSE

Products for genes affiliated with Chondrodysplasia Punctata

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Sources for Chondrodysplasia Punctata

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet