MCID: CHN015
MIFTS: 46

Chondrodysplasia malady

Summaries for Chondrodysplasia

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64Wikipedia, 33MalaCards
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Wikipedia:64 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 Endochondral Ossification and Non-integrin membrane-ECM interactions. The compounds nkh 477 and mdl 12330a hydrochloride have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, thymus and brain, and related mouse phenotypes are limbs/digits/tail and mortality/aging.

Aliases & Classifications for Chondrodysplasia

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43NIH Rare Diseases
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Aliases & Descriptions:

chondrodysplasia 43


Related Diseases for Chondrodysplasia

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Chondrodysplasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 224)
idRelated DiseaseScoreTop Affiliating Genes
1rhizomelic chondrodysplasia punctata31.1PHYH, AGPS, PEX7, GNPAT
2chondrodysplasia punctata syndrome30.9EBP, ARSE, GNPAT
3osteoarthritis30.3COL2A1, MATN1, GDF5, COL10A1
4refsum disease30.3GNPAT, PHYH, PEX7
5chondrodysplasia punctata 2 x-linked dominant30.3EBP, GNPAT
6dwarfism30.3PTH1R, COL2A1
7zellweger syndrome30.3PEX7
8diastrophic dysplasia30.2SLC26A2, COL2A1
9brachydactyly30.1COL2A1, GDF5, IMPAD1
10short stature30.0ARSE, COL10A1, GDF5, COL2A1
11infantile refsum disease29.9PEX26, GNPAT, PHYH
12peroxisome disorders29.9PEX7
13adrenoleukodystrophy29.9PEX26, GNPAT
14spondyloepimetaphyseal dysplasia, strudwick type29.7COL2A1, COL10A1
15achondrogenesis29.7SLC26A2
16schmid metaphyseal chondrodysplasia10.7
17jansen's metaphyseal chondrodysplasia10.4
18cartilage-hair hypoplasia10.4
19chondrodysplasia punctata 2, x-linked10.4
20rhizomelic chondrodysplasia punctata type 110.4
21chondrodysplasia punctata 1, x-linked10.4
22rhizomelic chondrodysplasia punctata type 210.4
23rhizomelic chondrodysplasia punctata, type 310.3
24acromesomelic dysplasia, grebe type10.3
25chondrodysplasia blomstrand type10.3
26metaphyseal chondrodysplasia spahr type10.3
27chondrodysplasia punctata, tibia metacarpal type10.3
28chondrodysplasia punctata, x-linked recessive10.3
29chondrodysplasia punctata 1, x-linked recessive10.3
30rhizomelic syndrome10.2
31chondrodysplasia lethal recessive10.2
32n syndrome10.2
33weissenbacher-zweymuller syndrome10.2
34otospondylomegaepiphyseal dysplasia10.1
35lethal chondrodysplasia seller type10.1
36chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia10.1
37spondyloepiphyseal dysplasia with congenital joint dislocations10.1
38short syndrome10.1
39chondrodysplasia punctata, humero-metacarpal type10.1
40metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands10.1
41lethal chondrodysplasia moerman type10.1
42chondrodysplasia with joint dislocations, grapp type10.1
43chondrodysplasia punctata, unclassified10.1
44osteoarthritis with mild chondrodysplasia10.1
45leukoencephalopathy with metaphyseal chondrodysplasia10.1
46metaphyseal chondrodysplasia - retinitis pigmentosa10.1
47chondrodysplasia - disorder of sex development10.1
48chondrodysplasia punctata, tibial-metacarpal type10.1
49autosomal dominant chondrodysplasia punctata10.1
50systemic lupus erythematosus10.0

Graphical network of the top 20 diseases related to Chondrodysplasia:



Diseases related to chondrodysplasia

Clinical Features for Chondrodysplasia

Drugs & Therapeutics for Chondrodysplasia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Chondrodysplasia

Anatomical Context for Chondrodysplasia

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33MalaCards
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MalaCards organs/tissues related to Chondrodysplasia:

33
Bone marrow, Thymus, Brain, Spinal cord, Heart, Colon, Liver, Lung, Skin, T cells, Fetal brain, Fetal liver, Fetal lung

Animal Models for Chondrodysplasia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Chondrodysplasia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537110.4COL10A1, PTH1R, SLC26A2, HOXC8, GDF5, IMPAD1
2MP:001076810.4COL10A1, COL2A1, GNPAT, PEX7, PTH1R, SLC26A2
3MP:000539010.3IMPAD1, GDF5, HOXC8, SLC26A2, PTH1R, PEX7
4MP:000537810.1PEX7, COL10A1, PHYH, EBP, IMPAD1, GDF5

Publications for Chondrodysplasia

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51PubMed
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Articles related to Chondrodysplasia:

(show top 50)    (show all 522)
idTitleAuthorsYear
1
Challenges of spine surgery in patients with chondrodysplasia punctata. (23836071)
2013
2
Rhizomelic chondrodysplasia punctata and cardiac pathology. (23572185)
2013
3
Rhizomelic chondrodysplasia punctata type 1 and fulminant neonatal respiratory failure, a case report and discussion of pathophysiology. (22052861)
2011
4
Dwarfism associated with chondrodysplasia in a red deer (Cervus elaphus). (22016513)
2011
5
Chondrodysplasia punctata: a clinical diagnostic and radiological review. (18978650)
2008
6
Competency for nonsense-mediated reduction in collagen X mRNA is specified by the 3' UTR and corresponds to the position of mutations in Schmid metaphyseal chondrodysplasia. (18304492)
2008
7
Overexpression of Spry1 in chondrocytes causes attenuated FGFR ubiquitination and sustained ERK activation resulting in chondrodysplasia. (18582454)
2008
8
Cervical spinal cord compression in chondrodysplasia punctata. Case illustration. (16572643)
2006
9
MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata. (16567694)
2006
10
Dmp1-deficient mice display severe defects in cartilage formation responsible for a chondrodysplasia-like phenotype. (15590631)
2005
11
Vitreoretinal abnormalities in the Conradi-Hunermann form of chondrodysplasia punctata. (15205255)
2004
12
A newly recognized chondrodysplasia with multiple dislocations. (15368507)
2004
13
Analysis of mesenchymal cells derived from an chondrodysplasia punctuate patient and donors. (15352168)
2004
14
Novel mutations in X-linked dominant chondrodysplasia punctata (CDPX2). (14632217)
2003
15
Genetic rescue of chondrodysplasia and the perinatal lethal effect of cartilage link protein deficiency. (12732630)
2003
16
Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata. (12915479)
2003
17
Reduced chondrocyte proliferation and chondrodysplasia in mice lacking the integrin-linked kinase in chondrocytes. (12835312)
2003
18
Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome). (12509714)
2002
19
Prenatal diagnosis of rhizomelic chondrodysplasia punctata due to isolated alkyldihydroacetonephosphate acyltransferase synthase deficiency. (10327148)
1999
20
Folding and assembly of type X collagen mutants that cause metaphyseal chondrodysplasia-type schmid. Evidence for co-assembly of the mutant and wild-type chains and binding to molecular chaperones. (10066825)
1999
21
Antenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata. (10511306)
1999
22
Chondrodysplasia punctata with retinal colobomas: radiographic findings. (9605308)
1998
23
Novel missense mutation resulting in the substitution of tyrosine by cysteine at codon 597 of the type X collagen gene associated with Schmid metaphyseal chondrodysplasia. (9852679)
1998
24
A nonsense mutation in the carboxyl-terminal domain of type X collagen causes haploinsufficiency in schmid metaphyseal chondrodysplasia. (9525992)
1998
25
Brachytelephalangic chondrodysplasia punctata in a female child. (9039663)
1997
26
Jansen-type metaphyseal chondrodysplasia: analysis of PTH/PTH-related protein receptor messenger RNA by the reverse transcriptase-polymerase chain method. (9447281)
1997
27
Prenatal findings in chondrodysplasia punctata, tibia-metacarpal type. (8978012)
1996
28
Isolated dihydroxyacetonephosphate-acyl-transferase deficiency in rhizomelic chondrodysplasia punctata: clinical presentation, metabolic and histological findings. (8956940)
1996
29
Usefulness of histopathologic examination of thick scales in the diagnosis of X-linked dominant chondrodysplasia punctata (Happle). (8919514)
1996
30
Refinement of the locus for X-linked recessive chondrodysplasia punctata. (7759082)
1995
31
X-linked dominant chondrodysplasia punctata (Happle syndrome) with uncommon symmetrical shortening of the tubular bones. (8573932)
1995
32
Identification of a mutation in type X collagen in a family with Schmid metaphyseal chondrodysplasia. (8012364)
1994
33
Molecular genetics of chondrodysplasias, including clues to development, structure, and function. (8060773)
1994
34
Fatty alcohol accumulation in the autosomal recessive form of rhizomelic chondrodysplasia punctata. (8373640)
1993
35
Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata, ichthyosis, and Kallmann syndrome due to an Xp deletion. (1557308)
1992
36
Exclusion mapping of the X-linked dominant chondrodysplasia punctata/ichthyosis/cataract/short stature (Happle) syndrome: possible involvement of an unstable pre-mutation. (1355069)
1992
37
Maxillonasal dysplasia (Binder's syndrome) and chondrodysplasia punctata. (1613767)
1992
38
Generalized chondrodysplasia punctata with shortness of humeri and brachymetacarpy: humero-metacarpal (HM) type: variation or heterogeneity? (1776629)
1991
39
"Snail-like pelvis" chondrodysplasia: a further case report. (1746621)
1991
40
Cartilage hair hypoplasia in infancy: a misleading chondrodysplasia. (1743218)
1991
41
Early-onset primary osteoarthritis and mild chondrodysplasia. Radiographic and pathologic studies with an analysis of cartilage proteoglycans. (2346522)
1990
42
Chondrodysplasia punctata, tibia-metacarpal (MT) type. (2248286)
1990
43
Radiological case of the month. Dominant X-linked chondrodysplasia punctata. (3177333)
1988
44
Metaphyseal chondrodysplasia, Schmid type. Clinical and radiographic delineation with a review of the literature. (3281118)
1988
45
Lethal chondrodysplasia punctata, Conradi HA1nermann subtype A, one case. (3588407)
1987
46
Chondrodysplasia in the Alaskan malamute. Characterization of proteoglycans dissociatively extracted from dwarf growth plates. (4046558)
1985
47
X-linked dominant chondrodysplasia punctata: a case report and family studies. (4038582)
1985
48
Fibrochondrogenesis: lethal, autosomal recessive chondrodysplasia with distinctive cartilage histopathology. (6507478)
1984
49
Cartilage-hair hypoplasia (metaphyseal chondrodysplasia, type McKusick) with combined immune deficiency: variable expression and development of immunologic functions in sibs. (728552)
1978
50
Optic nerve hypoplasia in chondrodysplasia punctata. (915643)
1977

Genetic Variations for Chondrodysplasia

Expression for genes affiliated with Chondrodysplasia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Chondrodysplasia

Search GEO for disease gene expression data for Chondrodysplasia.

Pathways for genes affiliated with Chondrodysplasia

Sources:
38NCBI BioSystems Database, 54Reactome, 30KEGG, 52QIAGEN, 12EMD Millipore, 50PharmGKB
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Pathways related to Chondrodysplasia according to GeneCards/GeneDecks:

(show all 33)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.5PTH1R, COL2A1, COL10A1
2
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10.5COL2A1, COL10A1
310.5GNPAT, AGPS
410.5GNPAT, PHYH, AGPS
5
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10.5GNPAT, PHYH, ARSE, AGPS, EBP, IMPAD1
610.5PEX26, PEX7, AGPS, PHYH, GNPAT
7
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10.5GDF5, MATN1, COL2A1, COL10A1
8
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10.5ADCY6, ADCY4
910.4ADCY7, ADCY6, ADCY4
10
wtCFTR and deltaF508 traffic / Membrane expression (norm and CF)
10.4ADCY7, ADCY6, ADCY4
1110.4ADCY7, ADCY6, ADCY4
12
Signal transduction cAMP signaling
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10.4ADCY7, ADCY6, ADCY4
13
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10.4ADCY7, ADCY6, ADCY4
14
G-protein signaling G-Protein alpha-i signaling cascades
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10.4ADCY7, ADCY6, ADCY4
1510.4ADCY7, ADCY6, ADCY4
16
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10.4ADCY7, ADCY6, ADCY4
1710.4ADCY7, ADCY6, ADCY4
18
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10.4PTH1R, ADCY7, ADCY6, ADCY4
1910.4ADCY7, ADCY6, ADCY4
2010.4ADCY4, ADCY6, ADCY7
21
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10.4ADCY4, ADCY6, ADCY7
2210.4ADCY4, ADCY6, ADCY7
23
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10.4ADCY4, ADCY6, ADCY7
2410.4ADCY4, ADCY6, ADCY7
2510.4ADCY4, ADCY6, ADCY7
26
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10.4ADCY4, ADCY6, ADCY7
27
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10.4ADCY4, ADCY6, ADCY7
2810.4ADCY4, ADCY6, ADCY7
29
Hide members
10.4ADCY4, ADCY6, ADCY7
30
Hide members
10.4COL10A1, COL2A1, ADCY7, ADCY6, ADCY4
31
Hide members
10.4ADCY4, ADCY6, ADCY7, COL2A1
32
Hide members
10.4COL10A1, COL2A1, GDF5, ADCY7, ADCY6, ADCY4
33
Hide members
10.4COL10A1, COL2A1, GDF5, ADCY7, ADCY6, ADCY4

Compounds for genes affiliated with Chondrodysplasia

Sources:
60Tocris Bioscience, 45Novoseek, 11DrugBank, 24HMDB, 50PharmGKB
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Compounds related to Chondrodysplasia according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
1nkh 4776010.7ADCY4, ADCY7, ADCY6
2mdl 12330a hydrochloride6010.7ADCY7, ADCY6, ADCY4
3pacap 1-276010.7ADCY7, ADCY6, ADCY4
4kh 76010.7ADCY7, ADCY6, ADCY4
5sq 2253660 4511.6ADCY7, ADCY6, ADCY4
6dhap4510.6AGPS, GNPAT
7Pyruvic acid11 2411.6ADCY4, ADCY6, ADCY7
8pyrophosphate45 2411.5COL2A1, ADCY7, ADCY6, ADCY4
9phytanic acid4510.5PHYH, GNPAT
10fatty acid4510.5PEX7, AGPS, PHYH, GNPAT
11glycosaminoglycan4510.5COL2A1, MATN1, GDF5
12calcium45 50 11 2413.3COL2A1, ARSE, MATN1, EBP, PTH1R, ADCY7
13sulfate45 2411.2COL2A1, ARSE, SLC26A2

GO Terms for genes affiliated with Chondrodysplasia

Sources:
16Gene Ontology
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Cellular components related to Chondrodysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1peroxisomal matrixGO:00578210.5PEX7, AGPS, PHYH, GNPAT
2peroxisomeGO:00577710.2PEX26, PEX7, AGPS, PHYH, GNPAT

Biological processes related to Chondrodysplasia according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1ether lipid biosynthetic processGO:00861110.8PEX7, AGPS, GNPAT
2skeletal system developmentGO:00150110.8COL10A1, COL2A1, ARSE, EBP, PTH1R
3adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:00718910.7ADCY4, ADCY6, ADCY7, PTH1R
4endochondral ossificationGO:00195810.7PEX7, IMPAD1, COL2A1
5activation of protein kinase A activityGO:03419910.7ADCY7, ADCY6, ADCY4
6small molecule metabolic processGO:04428110.7GNPAT, PHYH, ARSE, AGPS, EBP, SLC26A2
7cellular response to glucagon stimulusGO:07137710.7ADCY7, ADCY6, ADCY4
8water transportGO:00683310.6ADCY4, ADCY6, ADCY7
9adenylate cyclase-inhibiting G-protein coupled receptor signaling pathwayGO:00719310.6ADCY7, ADCY6, ADCY4
10activation of phospholipase C activityGO:00720210.6ADCY4, ADCY6, ADCY7
11protein import into peroxisome matrixGO:01655810.6PEX7, PEX26
12cAMP biosynthetic processGO:00617110.5ADCY6, ADCY4
13extracellular matrix organizationGO:03019810.5GDF5, MATN1, COL2A1, COL10A1
14fibroblast growth factor receptor signaling pathwayGO:00854310.4ADCY4, ADCY6, ADCY7
15energy reserve metabolic processGO:00611210.3ADCY7, ADCY6, ADCY4
16cellular lipid metabolic processGO:04425510.2AGPS, PHYH, GNPAT

Molecular functions related to Chondrodysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1metal ion bindingGO:04687210.4COL2A1, PHYH, ARSE, IMPAD1, ADCY7, ADCY6
2adenylate cyclase activityGO:00401610.1ADCY4, ADCY6, ADCY7

Products for genes affiliated with Chondrodysplasia

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Sources for Chondrodysplasia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet