MCID: CHN015
MIFTS: 43

Chondrodysplasia malady

Rare diseases category

Summaries for Chondrodysplasia

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66Wikipedia, 34MalaCards
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Wikipedia:66 Osteochondrodysplasia is a general term for a disorder of the development (dysplasia) of bone... more...

MalaCards: Chondrodysplasia is related to rhizomelic chondrodysplasia punctata and chondrodysplasia punctata syndrome. An important gene associated with Chondrodysplasia is EBP (emopamil binding protein (sterol isomerase)), and among its related pathways are triacylglycerol biosynthesis and Peroxisomal lipid metabolism. The compounds dhap and glycosaminoglycan have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and spinal cord, and related mouse phenotypes are vision/eye and craniofacial.

Aliases & Classifications for Chondrodysplasia

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44NIH Rare Diseases
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Classifications:

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Global: Rare diseases


Aliases & Descriptions:

chondrodysplasia 44


Related Diseases for Chondrodysplasia

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18GeneCards, 19GeneDecks
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Diseases related to Chondrodysplasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 237)
idRelated DiseaseScoreTop Affiliating Genes
1rhizomelic chondrodysplasia punctata31.2PEX7, GNPAT, AGPS
2chondrodysplasia punctata syndrome30.6GNPAT, EBP, ARSE
3chondrodysplasia punctata 2 x-linked dominant30.4GNPAT, EBP
4peroxisome disorders30.4PEX7
5osteoarthritis30.3COL2A1, GDF5, COL10A1
6dwarfism30.3COL2A1, PTH1R
7zellweger syndrome30.2GNPAT, AGPS
8refsum disease30.1PEX7, GNPAT
9skeletal dysplasias30.1COL2A1, COL10A1, PTH1R
10brachydactyly30.1GDF5, COL2A1, IMPAD1
11short stature30.0COL2A1, COL10A1, GDF5, ARSE
12osteogenesis imperfecta30.0COL2A1, PTH1R
13spondyloepimetaphyseal dysplasia, strudwick type29.8COL10A1, COL2A1
14achondroplasia29.8COL2A1, PTH1R
15metaphyseal dysplasia29.7COL2A1, COL10A1, PTH1R
16schmid metaphyseal chondrodysplasia10.6
17jansen's metaphyseal chondrodysplasia10.5
18rhizomelic chondrodysplasia punctata type 110.5
19chondrodysplasia punctata 2, x-linked10.5
20rhizomelic chondrodysplasia punctata type 210.5
21cartilage-hair hypoplasia10.5
22rhizomelic chondrodysplasia punctata, type 310.4
23chondrodysplasia punctata 1, x-linked10.4
24acromesomelic dysplasia, grebe type10.3
25chondrodysplasia blomstrand type10.3
26metaphyseal chondrodysplasia spahr type10.3
27cervicitis10.3
28chondrodysplasia punctata 1, x-linked recessive10.3
29weissenbacher-zweymĂĽller syndrome10.2
30chondrodysplasia punctata, x-linked recessive10.2
31chondrodysplasia punctata, tibia metacarpal type10.2
32chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia10.2
33multiple epiphyseal dysplasia10.2
34otospondylomegaepiphyseal dysplasia10.2
35cataract10.2
36lupus erythematosus10.2
37atelosteogenesis type 110.2
38lethal chondrodysplasia seller type10.2
39leukoencephalopathy with metaphyseal chondrodysplasia10.2
40chondrodysplasia punctata, tibial-metacarpal type10.2
41autosomal dominant chondrodysplasia punctata10.2
42spondyloepiphyseal dysplasia with congenital joint dislocations10.1
43diastrophic dysplasia10.1
44lethal chondrodysplasia moerman type10.1
45metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands10.1
46chondrodysplasia with joint dislocations, grapp type10.1
47osteoarthritis with mild chondrodysplasia10.1
48chondrodysplasia - disorder of sex development10.1
49non-rhizomelic chondrodysplasia punctata10.1
50chondrodysplasia punctata, toriello type10.1

Graphical network of the top 20 diseases related to Chondrodysplasia:



Diseases related to chondrodysplasia

Symptoms for Chondrodysplasia

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Drugs & Therapeutics for Chondrodysplasia

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Chondrodysplasia

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Anatomical Context for Chondrodysplasia

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34MalaCards
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MalaCards organs/tissues related to Chondrodysplasia:

34
Bone, Skin, Spinal cord, Heart, Thymus, Bone marrow, Testes, Lung, Brain, Liver, Colon

Animal Models for Chondrodysplasia or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Chondrodysplasia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.5AGPS, COL2A1, GNPAT, PEX7
2MP:00053828.0PTH1R, COL10A1, COL2A1, IMPAD1
3MP:00053717.4GDF5, IMPAD1, COL2A1, COL10A1, PTH1R, GNPAT
4MP:00053907.3IMPAD1, COL2A1, COL10A1, PTH1R, PEX7, GDF5
5MP:00053786.6COL10A1, COL2A1, IMPAD1, GNPAT, EBP, PEX7
6MP:00107686.2GNPAT, COL2A1, AGPS, IMPAD1, PTH1R, EBP

Publications for Chondrodysplasia

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53PubMed
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Articles related to Chondrodysplasia:

(show top 50)    (show all 512)
idTitleAuthorsYear
1
An Atypical form Rhizomelic Chondrodysplasia Punctata in a Newborn. (24049758)
2013
2
Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe. (24129431)
2013
3
Multilevel guided growth for hip and knee varus secondary to chondrodysplasia. (22892627)
2012
4
Brachytelephalangic chondrodysplasia punctata: a case series to further delineate the phenotype. (22581171)
2012
5
In a shake of a lamb's tail: using genomics to unravel a cause of chondrodysplasia in Texel sheep. (22742499)
2012
6
Rhizomelic chondrodysplasia punctata type 1 and fulminant neonatal respiratory failure, a case report and discussion of pathophysiology. (22052861)
2011
7
Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy? (21964829)
2011
8
Maternal mixed connective tissue disease and offspring with chondrodysplasia punctata. (19110299)
2010
9
Chondrodysplasia punctata associated with tetralogy of Fallot in a newborn infant. (20681228)
2010
10
An infant with cartilage-hair hypoplasia due to a novel homozygous mutation in the promoter region of the RMRP gene associated with chondrodysplasia and severe immunodeficiency. (21063072)
2010
11
Chondrodysplasia punctata: a clinical diagnostic and radiological review. (18978650)
2008
12
Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia. (18629880)
2008
13
Short-limbed dwarfism: slw is a new allele of Npr2 causing chondrodysplasia. (17728275)
2007
14
Human immortalized chondrocytes carrying heterozygous FGFR3 mutations: an in vitro model to study chondrodysplasias. (17507011)
2007
15
Cervical spinal cord compression in chondrodysplasia punctata. Case illustration. (16572643)
2006
16
Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations--findings in 10 patients. (16088909)
2005
17
Chondrodysplasia punctata in siblings and maternal lupus erythematosus. (15521983)
2004
18
Identification and biochemical characterization of an avian sulfatase homologous to the human ARSE, the gene for X-linked chondrodysplasia punctata. (15246527)
2004
19
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
20
The evolving definition of a chondrodysplasia? (12687889)
2003
21
Novel mutations in X-linked dominant chondrodysplasia punctata (CDPX2). (14632217)
2003
22
Greenberg dysplasia (HEM) and lethal X linked dominant Conradi-HA1nermann chondrodysplasia punctata (CDPX2): presentation of two cases with overlapping phenotype. (14684697)
2003
23
Second-trimester sonographic diagnosis of nonrhizomelic chondrodysplasia punctata. (11883546)
2002
24
The cyclin D1 and cyclin A genes are targets of activated PTH/PTHrP receptors in Jansen's metaphyseal chondrodysplasia. (12198252)
2002
25
Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia. (11941538)
2002
26
Some chondrodysplasias with short limbs: molecular perspectives. (12357475)
2002
27
Images in clinical medicine. Chondrodysplasia punctata. (12110739)
2002
28
How many phenotypes in the DTDST family chondrodysplasias? (12220459)
2002
29
Lethal form of chondrodysplasia punctata with normal plasmalogen and cholesterol biosynthesis. (11169563)
2001
30
Chondrodysplasia punctata, tibial-metacarpal type in a 16 week fetus. (11026586)
2000
31
Schmid's metaphyseal chondrodysplasia mutations interfere with folding of the C-terminal domain of human collagen X expressed in Escherichia coli. (10383388)
1999
32
Constitutive activation of the cyclic adenosine 3',5'-monophosphate signaling pathway by parathyroid hormone (PTH)/PTH-related peptide receptors mutated at the two loci for Jansen's metaphyseal chondrodysplasia. (9178745)
1997
33
Familial Blomstrand chondrodysplasia with advanced skeletal maturation: further delineation. (9268097)
1997
34
Targeted overexpression of parathyroid hormone-related peptide in chondrocytes causes chondrodysplasia and delayed endochondral bone formation. (8816783)
1996
35
A human chondrodysplasia due to a mutation in a TGF-beta superfamily member. (8589725)
1996
36
Concentration of mutations causing Schmid metaphyseal chondrodysplasia in the C-terminal noncollagenous domain of type X collagen. (7749409)
1995
37
Identification of a mutation in type X collagen in a family with Schmid metaphyseal chondrodysplasia. (8012364)
1994
38
The type II collagenopathies: a spectrum of chondrodysplasias. (8157027)
1994
39
Chondrodysplasia Punctata 2, X-Linked (21634086)
1993
40
Type II collagen defect in two sibs with the Goldblatt syndrome, a chondrodysplasia with dentinogenesis imperfecta, and joint laxity. (1481841)
1992
41
Ultrastructure and immunocytochemistry of hepatic peroxisomes in rhizomelic chondrodysplasia punctata. (1468458)
1992
42
Ultrastructural changes of cochlea in mice with hereditary chondrodysplasia (cho/cho). (1952599)
1991
43
Schmid-like metaphyseal chondrodysplasia simulating child abuse. (1899762)
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
Dominant chondrodysplasia punctata with neurologic symptoms. (6683813)
1983
47
Scanning electron microscopy of cartilage in mice with hereditary chondrodysplasia. (6820573)
1982
48
Further clinical and radiological features in metaphyseal chondrodysplasia Jansen type. (6974367)
1981
49
Chondrodysplasia punctata after warfarin in early pregnancy. Case report and summary of the literature. (7377833)
1980
50
The Weissenbacher-Zweymuller syndrome of micrognathia and rhizomelic chondrodysplasia at birth with subsequent normal growth. (813535)
1975

Variations for Chondrodysplasia

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Expression for genes affiliated with Chondrodysplasia

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Chondrodysplasia

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Pathways for genes affiliated with Chondrodysplasia

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51PathCards, 39NCBI BioSystems Database, 56Reactome, 61Thomson Reuters, 31KEGG, 54QIAGEN
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Pathways related to Chondrodysplasia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
phosphatidylglycerol biosynthesis II (non-plastidic)39
CDP-diacylglycerol biosynthesis I39
Triacylglyceride Synthesis39
9.5GNPAT, AGPS
2
Show member pathways
9.5GNPAT, AGPS
39.5PTH1R, COL2A1
49.1COL2A1, COL10A1, PTH1R
59.1AGPS, GNPAT, PEX7
6
Show member pathways
9.0GDF5, COL10A1, COL2A1
7
Show member pathways
9.0COL2A1, COL10A1, GDF5
8
Show member pathways
8.1ARSE, AGPS, GNPAT, EBP, IMPAD1

Compounds for genes affiliated with Chondrodysplasia

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46Novoseek, 25HMDB, 12DrugBank
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Compounds related to Chondrodysplasia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1dhap469.5AGPS, GNPAT
2glycosaminoglycan469.3COL2A1, GDF5
3hydroxyproline46 25 1211.2AGPS, COL2A1
4fatty acid468.8AGPS, GNPAT, PEX7

GO Terms for genes affiliated with Chondrodysplasia

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17Gene Ontology
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Cellular components related to Chondrodysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1peroxisomal membraneGO:0057789.5GNPAT, AGPS
2peroxisomal matrixGO:0057829.1AGPS, PEX7, GNPAT
3peroxisomeGO:0057779.0AGPS, PEX7, GNPAT
4endoplasmic reticulum lumenGO:0057888.9ARSE, COL2A1, COL10A1

Biological processes related to Chondrodysplasia according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1cartilage developmentGO:0512169.4COL2A1, COL10A1
2collagen catabolic processGO:0305749.2COL2A1, COL10A1
3ether lipid biosynthetic processGO:0086119.2PEX7, GNPAT, AGPS
4chondrocyte differentiationGO:0020629.0GDF5, PTH1R, COL2A1
5extracellular matrix organizationGO:0301989.0COL2A1, COL10A1, GDF5
6small molecule metabolic processGO:0442818.9ARSE, AGPS, GNPAT, EBP
7skeletal system developmentGO:0015018.7ARSE, EBP, PTH1R, COL10A1, COL2A1
8endochondral ossificationGO:0019588.5COL2A1, PEX7, COL10A1, IMPAD1

Products for genes affiliated with Chondrodysplasia

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Sources for Chondrodysplasia

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet