MCID: CHN015
MIFTS: 44

Chondrodysplasia malady

Rare diseases category
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Summaries for Chondrodysplasia

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Wikipedia:65 Osteochondrodysplasia is a general term for a disorder of the development (dysplasia) of bone... more...

MalaCards based summary: Chondrodysplasia, also known as chondrodysplasia, hereditary deforming, is related to rhizomelic chondrodysplasia punctata and peroxisome disorders. 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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Chondrodysplasia, Aliases & Descriptions:

Name: Chondrodysplasia 42
 
Chondrodysplasia, Hereditary Deforming 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


Related Diseases for Chondrodysplasia

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

(show top 50)    (show all 240)
idRelated DiseaseScoreTop Affiliating Genes
1rhizomelic chondrodysplasia punctata31.2AGPS, GNPAT, PEX7
2peroxisome disorders30.9PEX7
3chondrodysplasia punctata syndrome30.7ARSE, GNPAT, EBP
4chondrodysplasia punctata 2 x-linked dominant30.7EBP, GNPAT
5dwarfism30.5PTH1R, COL2A1
6refsum disease30.4PEX7, GNPAT
7zellweger syndrome30.3GNPAT, AGPS
8osteoarthritis30.2COL2A1, COL10A1, GDF5
9osteogenesis imperfecta30.1COL2A1, PTH1R
10spondyloepimetaphyseal dysplasia, strudwick type30.0COL2A1, COL10A1
11achondroplasia29.9COL2A1, PTH1R
12short stature29.8GDF5, COL10A1, COL2A1, ARSE
13brachydactyly29.8GDF5, COL2A1, IMPAD1
14metaphyseal dysplasia29.8COL2A1, COL10A1, PTH1R
15schmid metaphyseal chondrodysplasia10.6
16jansen's metaphyseal chondrodysplasia10.6
17rhizomelic chondrodysplasia punctata type 110.5
18chondrodysplasia punctata 2, x-linked10.5
19rhizomelic chondrodysplasia punctata type 210.5
20cartilage-hair hypoplasia10.5
21chondrodysplasia punctata 1, x-linked10.4
22children's interstitial lung disease10.4EBP
23rhizomelic chondrodysplasia punctata, type 310.4
24acromesomelic dysplasia, grebe type10.4
25chondrodysplasia blomstrand type10.4
26cervicitis10.3
27metaphyseal chondrodysplasia spahr type10.3
28chondrodysplasia punctata 1, x-linked recessive10.3
29weissenbacher-zweymüller syndrome10.3
30chondrodysplasia punctata, x-linked recessive10.3
31atelosteogenesis type 110.2
32lethal chondrodysplasia seller type10.2
33chondrodysplasia punctata, tibia metacarpal type10.2
34chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia10.2
35leukoencephalopathy with metaphyseal chondrodysplasia10.2
36autosomal dominant chondrodysplasia punctata10.2
37cataract10.2
38diastrophic dysplasia10.2
39spondyloepiphyseal dysplasia with congenital joint dislocations10.2
40otospondylomegaepiphyseal dysplasia10.2
41lupus erythematosus10.2
42lethal chondrodysplasia moerman type10.2
43osteoarthritis with mild chondrodysplasia10.2
44chondrodysplasia punctata, tibial-metacarpal type10.2
45cartilage disease10.2COL2A1, COL10A1
46chondrosarcoma10.2COL10A1, PTH1R
47multiple epiphyseal dysplasia10.1
48chondrodysplasia lethal recessive10.1
49metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands10.1
50metaphyseal chondrodysplasia, others10.1

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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Drug clinical trials:

Search ClinicalTrials for Chondrodysplasia

Search NIH Clinical Center for Chondrodysplasia

Genetic Tests for Chondrodysplasia

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Anatomical Context for Chondrodysplasia

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MalaCards organs/tissues related to Chondrodysplasia:

32
Bone, Skin, Spinal cord, Brain, Bone marrow, Thymus, Heart, Colon, Liver, Lung, Testes

Animal Models for Chondrodysplasia or affiliated genes

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MGI Mouse Phenotypes related to Chondrodysplasia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.5AGPS, COL2A1, GNPAT, PEX7
2MP:00053828.0PTH1R, COL10A1, COL2A1, IMPAD1
3MP:00053717.4GDF5, GNPAT, PTH1R, COL10A1, COL2A1, IMPAD1
4MP:00053907.3GDF5, PEX7, PTH1R, COL10A1, COL2A1, IMPAD1
5MP:00053786.6GDF5, PEX7, EBP, GNPAT, PTH1R, COL10A1
6MP:00107686.2IMPAD1, GDF5, PEX7, EBP, GNPAT, PTH1R

Publications for Chondrodysplasia

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Articles related to Chondrodysplasia:

(show top 50)    (show all 521)
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
Short rib-polydactyly syndrome: lethal chondrodysplasia associated with brain malformations in a 35-week-gestation infant. (16719409)
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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Expression patterns in normal tissues for genes affiliated with Chondrodysplasia

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Pathways for genes affiliated with Chondrodysplasia

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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)37
CDP-diacylglycerol biosynthesis I37
Triacylglyceride Synthesis37
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
9.0COL2A1, COL10A1, GDF5
7
Show member pathways
9.0COL2A1, COL10A1, GDF5
8
Show member pathways
8.1EBP, GNPAT, AGPS, IMPAD1, ARSE

Compounds for genes affiliated with Chondrodysplasia

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Sources:
44Novoseek, 24HMDB, 11DrugBank
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Compounds related to Chondrodysplasia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1dhap449.5AGPS, GNPAT
2glycosaminoglycan449.3COL2A1, GDF5
3hydroxyproline44 24 1111.2AGPS, COL2A1
4fatty acid448.8AGPS, GNPAT, PEX7

GO Terms for genes affiliated with Chondrodysplasia

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Cellular components related to Chondrodysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1peroxisomal membraneGO:0057789.5AGPS, GNPAT
2peroxisomal matrixGO:0057829.1AGPS, GNPAT, PEX7
3peroxisomeGO:0057779.0PEX7, GNPAT, AGPS
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:0305749.2COL10A1, COL2A1
3ether lipid biosynthetic processGO:0086119.2AGPS, GNPAT, PEX7
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:0015018.7EBP, PTH1R, COL10A1, COL2A1, ARSE
8endochondral ossificationGO:0019588.5IMPAD1, COL2A1, COL10A1, PEX7

Products for genes affiliated with Chondrodysplasia

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Sources for Chondrodysplasia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet