Aliases & Classifications for Chondrodysplasia

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Chondrodysplasia, Aliases & Descriptions:

Name: Chondrodysplasia 41


Classifications:

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


Summaries for Chondrodysplasia

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Wikipedia:63 Osteochondrodysplasia is a general term for a disorder of the development (dysplasia) of bone... more...

MalaCards based summary: Chondrodysplasia is related to chondrodysplasia punctata and rhizomelic chondrodysplasia punctata. 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, spinal cord and skin, and related mouse phenotypes are vision/eye and craniofacial.

Related Diseases for Chondrodysplasia

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

(show top 50)    (show all 241)
idRelated DiseaseScoreTop Affiliating Genes
1chondrodysplasia punctata31.8ARSE, GNPAT, EBP
2rhizomelic chondrodysplasia punctata31.2AGPS, GNPAT, PEX7
3chondrodysplasia punctata, x-linked dominant31.2EBP, GNPAT
4dwarfism30.5PTH1R, COL2A1
5refsum disease30.3PEX7, GNPAT
6peroxisome disorders30.3PEX7, GNPAT, AGPS
7zellweger syndrome30.3GNPAT, AGPS
8osteoarthritis30.1COL2A1, COL10A1, GDF5
9osteogenesis imperfecta30.1COL2A1, PTH1R
10smed strudwick type30.0COL2A1, COL10A1
11achondroplasia29.9COL2A1, PTH1R
12brachydactyly29.8GDF5, COL2A1, IMPAD1
13metaphyseal dysplasia29.8COL2A1, COL10A1, PTH1R
14rhizomelic chondrodysplasia punctata, type 110.6
15chondrodysplasia punctata, rhizomelic, type 210.5
16metaphyseal chondrodysplasia, murk jansen type10.5
17metaphyseal chondrodysplasia, schmid type10.5
18chondrodysplasia punctata, x-linked recessive10.5
19cartilage-hair hypoplasia10.5
20chondrodysplasia punctata 1, x-linked10.5
21rhizomelic chondrodysplasia punctata, type 310.4
22chondrodysplasia, blomstrand type10.4
23child syndrome10.4EBP
24chondrodysplasia, grebe type10.4
25x-linked chondrodysplasia punctata10.4
26metaphyseal chondrodysplasia spahr type10.4
27peroxisomal disease10.4PEX7
28chondrodysplasia with joint dislocations, grapp type10.3
29cervicitis10.3
30weissenbacher-zweymuller syndrome10.3
31leukoencephalopathy with metaphyseal chondrodysplasia10.3
32lethal chondrodysplasia moerman type10.3
33chondrodysplasia punctata, tibia metacarpal type10.3
34osteoarthritis with mild chondrodysplasia10.3
35autosomal dominant chondrodysplasia punctata10.3
36lethal chondrodysplasia seller type10.3
37chondrodysplasia punctata 2, x-linked10.2
38chondrodysplasia punctata sheffield type10.2
39atelosteogenesis, type i10.2
40diastrophic dysplasia10.2
41chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia10.2
42cataract10.2
43lupus erythematosus10.2
44chondrodysplasia calcificans metaphysealis10.2
45metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands10.2
46x-linked dominant chondrodysplasia, chassaing-lacombe type10.2
47chondrodysplasia punctata, tibial-metacarpal type10.2
48cartilage disease10.1COL2A1, COL10A1
49chondrosarcoma10.1COL10A1, PTH1R
50schneckenbecken dysplasia10.1

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:

31
Bone, Spinal cord, Skin, 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:

35
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 532)
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
Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe. (24129431)
2013
4
Multilevel guided growth for hip and knee varus secondary to chondrodysplasia. (22892627)
2012
5
Brachytelephalangic chondrodysplasia punctata: a case series to further delineate the phenotype. (22581171)
2012
6
In a shake of a lamb's tail: using genomics to unravel a cause of chondrodysplasia in Texel sheep. (22742499)
2012
7
Rhizomelic chondrodysplasia punctata type 1 and fulminant neonatal respiratory failure, a case report and discussion of pathophysiology. (22052861)
2011
8
Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy? (21964829)
2011
9
Maternal mixed connective tissue disease and offspring with chondrodysplasia punctata. (19110299)
2010
10
Chondrodysplasia punctata associated with tetralogy of Fallot in a newborn infant. (20681228)
2010
11
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
12
Chondrodysplasia punctata: a clinical diagnostic and radiological review. (18978650)
2008
13
Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia. (18629880)
2008
14
Short-limbed dwarfism: slw is a new allele of Npr2 causing chondrodysplasia. (17728275)
2007
15
Human immortalized chondrocytes carrying heterozygous FGFR3 mutations: an in vitro model to study chondrodysplasias. (17507011)
2007
16
Short rib-polydactyly syndrome: lethal chondrodysplasia associated with brain malformations in a 35-week-gestation infant. (16719409)
2006
17
Cervical spinal cord compression in chondrodysplasia punctata. Case illustration. (16572643)
2006
18
Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations--findings in 10 patients. (16088909)
2005
19
Chondrodysplasia punctata in siblings and maternal lupus erythematosus. (15521983)
2004
20
Identification and biochemical characterization of an avian sulfatase homologous to the human ARSE, the gene for X-linked chondrodysplasia punctata. (15246527)
2004
21
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
22
The evolving definition of a chondrodysplasia? (12687889)
2003
23
Novel mutations in X-linked dominant chondrodysplasia punctata (CDPX2). (14632217)
2003
24
Second-trimester sonographic diagnosis of nonrhizomelic chondrodysplasia punctata. (11883546)
2002
25
The cyclin D1 and cyclin A genes are targets of activated PTH/PTHrP receptors in Jansen's metaphyseal chondrodysplasia. (12198252)
2002
26
Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia. (11941538)
2002
27
Some chondrodysplasias with short limbs: molecular perspectives. (12357475)
2002
28
Images in clinical medicine. Chondrodysplasia punctata. (12110739)
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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Search GEO for disease gene expression data for Chondrodysplasia.

Pathways for genes affiliated with Chondrodysplasia

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Pathways related to Chondrodysplasia 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
9.5GNPAT, 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:
43Novoseek, 24HMDB, 12DrugBank
See all sources

Compounds related to Chondrodysplasia according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1dhap439.5AGPS, GNPAT
2glycosaminoglycan439.3COL2A1, GDF5
3hydroxyproline43 24 1211.2AGPS, COL2A1
4fatty acid438.8AGPS, GNPAT, PEX7

GO Terms for genes affiliated with Chondrodysplasia

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

idNameGO IDScoreTop Affiliating Genes
1peroxisomal membraneGO:00057789.5AGPS, GNPAT
2peroxisomal matrixGO:00057829.1AGPS, GNPAT, PEX7
3peroxisomeGO:00057779.0PEX7, GNPAT, AGPS
4endoplasmic reticulum lumenGO:00057888.9ARSE, COL2A1, COL10A1

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1cartilage developmentGO:00512169.4COL2A1, COL10A1
2collagen catabolic processGO:00305749.2COL10A1, COL2A1
3ether lipid biosynthetic processGO:00086119.2AGPS, GNPAT, PEX7
4chondrocyte differentiationGO:00020629.0GDF5, PTH1R, COL2A1
5extracellular matrix organizationGO:00301989.0COL2A1, COL10A1, GDF5
6small molecule metabolic processGO:00442818.9ARSE, AGPS, GNPAT, EBP
7skeletal system developmentGO:00015018.7EBP, PTH1R, COL10A1, COL2A1, ARSE
8endochondral ossificationGO:00019588.5IMPAD1, 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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet