MCID: OST015
MIFTS: 57

Osteochondrodysplasia malady

Bone diseases category

Summaries for Osteochondrodysplasia

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8Disease Ontology, 63Wikipedia, 32MalaCards
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Wikipedia:63 Osteochondrodysplasia is a general term for a disorder of the development (dysplasia) of bone... more...

MalaCards: Osteochondrodysplasia, also known as congenital anomaly of cartilage, is related to multiple epiphyseal dysplasia and pseudoachondroplasia. An important gene associated with Osteochondrodysplasia is COMP (cartilage oligomeric matrix protein), and among its related pathways are Cytosolic sulfonation of small molecules and Regulation of cytoskeletal remodeling and cell spreading by IPP complex components. The compounds teriparatide and pyridinoline have been mentioned in the context of this disorder. Affiliated tissues include bone and kidney, and related mouse phenotypes are limbs/digits/tail and cellular.

Disease Ontology:8 A bone development disease that results in defective development of cartilage or bone.

Aliases & Classifications for Osteochondrodysplasia

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60UMLS, 8Disease Ontology, 10DISEASES, 22GTR, 44Novoseek, 56SNOMED-CT, 39NCIt, 27ICD9CM, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Bone diseases


Aliases & Descriptions:

osteochondrodysplasia 8 10
congenital anomaly of cartilage 8 60
osteochondrodysplasia syndrome 8 22
unspecified anomaly of cartilage 8
cartilage development disorder 8
mucopolysaccharidosis iv 60
osteochondrodysplasias 44
chondrodystrophy 8


External Ids:

Disease Ontology8 DOID:2256
NCIt39 C34466
ICD9CM27 756.4

Related Diseases for Osteochondrodysplasia

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

(show top 50)    (show all 258)
idRelated DiseaseScoreTop Affiliating Genes
1multiple epiphyseal dysplasia30.2SLC26A2, COMP
2pseudoachondroplasia30.1COMP, SLC26A2
3achondroplasia30.0PTH1R, FGFR3, SOX9, COL2A1, COMP
4ollier disease30.0PTHLH
5achondrogenesis29.9SLC26A2
6thanatophoric dysplasia29.9COMP, FGFR3, PTH1R
7otospondylomegaepiphyseal dysplasia29.9COL2A1, COL11A2
8diastrophic dysplasia29.9SLC26A2, COL2A1, COMP
9metaphyseal dysplasia29.9COL2A1, PTH1R, PTHLH
10spondyloepimetaphyseal dysplasia29.9COMP, DYM, RAB33B, PAPSS2
11osteogenesis imperfecta29.8COL2A1, FGFR3, PTH1R, SP7, ALPL
12weissenbacher-zweymuller syndrome29.6COL2A1, COL11A2
13x-linked spondyloepiphyseal dysplasia tarda29.6FGFR3, TRAPPC2, COL2A1
14campomelic dysplasia29.6COL2A1, SOX9
15skeletal dysplasias29.6COMP, COL2A1, SOX9, CTSK, FLNB, FLNA
16mucopolysaccharidosis iv10.7
17mucopolysaccharidosis10.7
18cantu syndrome10.3
19schwartz jampel syndrome type 110.2
20hypertrichosis10.2
21mccune albright syndrome10.1
22osteopoikilosis10.1
23omodysplasia 110.1
24cataract10.1
25muenke syndrome10.1
26pycnodysostosis10.0
27craniometaphyseal dysplasia10.0
28chondrodysplasia blomstrand type10.0
29desbuquois syndrome10.0
30thanatophoric dysplasia type 110.0
31metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly10.0
32pierre robin sequence10.0SOX9
33infectious mononucleosis10.0FGFR3
34dysgerminoma10.0PTHLH
35osteonecrosis10.0ALPL
36pseudohypoparathyroidism10.0PTH1R, PTHLH
37relapsing polychondritis10.0COL2A1, COMP
38osteosclerosis10.0CTSK, ALPL
39pseudohypoparathyroidism type 1b10.0PTHLH, PTH1R
40brachydactyly10.0FGFR3, COL2A1, COMP
41atelosteogenesis10.0SLC26A2, FLNB
42cleft palate10.0COL2A1, COL11A2, SOX9
43hypophosphatemia10.0ALPL, PTHLH
44pancreatitis10.0FLNB, ALPL
45stickler syndrome10.0COL2A1, COL11A2
46periventricular nodular heterotopia10.0FLNA
47hypercalcemia10.0PTH1R, PTHLH, ALPL
48arthropathy10.0COMP, COL2A1, ALPL
49osteochondroma10.0PTHLH, FGFR3
50rheumatoid arthritis10.0CTSK, COL2A1, COMP

Graphical network of the top 20 diseases related to Osteochondrodysplasia:



Diseases related to osteochondrodysplasia

Clinical Features for Osteochondrodysplasia

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Drugs & Therapeutics for Osteochondrodysplasia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Osteochondrodysplasia

Drug clinical trials:

Search ClinicalTrials for Osteochondrodysplasia

Search NIH Clinical Center for Osteochondrodysplasia

Search CenterWatch for Osteochondrodysplasia

Genetic Tests for Osteochondrodysplasia

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22GTR
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Genetic tests related to Osteochondrodysplasia:

id Genetic test Affiliating Genes
1 Osteochondrodysplasia22

Anatomical Context for Osteochondrodysplasia

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32MalaCards
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MalaCards organs/tissues related to Osteochondrodysplasia:

32
Bone, Kidney

Animal Models for Osteochondrodysplasia or affiliated genes

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36MGI
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Publications for Osteochondrodysplasia

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50PubMed
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Articles related to Osteochondrodysplasia:

(show top 50)    (show all 60)
idTitleAuthorsYear
1
Partial deletion of the sulfate transporter SLC13A1 is associated with an osteochondrodysplasia in the Miniature Poodle breed. (23300579)
2012
2
Measures of self-care independence for children with osteochondrodysplasia: a clinimetric review. (21728924)
2012
3
Fetal pyelectasis and corkscrew-shaped ureters: an association observed in postmortem fetal imaging studies of osteochondrodysplasia and trisomy 21. (22517500)
2012
4
Insertional mutation in the Golgb1 gene is associated with osteochondrodysplasia and systemic edema in the OCD rat. (21851869)
2011
5
Specific entities affecting the craniocervical region: osteogenesis imperfecta and related osteochondrodysplasias: medical and surgical management of basilar impression. (18401562)
2008
6
Incomplete dominant osteochondrodysplasia in heterozygous Scottish Fold cats. (18339089)
2008
7
Novel mutations in the parathyroid hormone (PTH)/PTH-related peptide receptor type 1 causing Blomstrand osteochondrodysplasia types I and II. (17164305)
2007
8
Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene. (18000903)
2007
9
Osteochondrodysplasia in three Scottish Fold cats. (17679781)
2007
10
Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities. (16086394)
2005
11
Neonatal lethal osteochondrodysplasia with low serum levels of alkaline phosphatase and osteocalcin. (15562030)
2005
12
Fryns syndrome with osteochondrodysplasia. (15793837)
2005
13
A human COL2A1 gene with an Arg519Cys mutation causes osteochondrodysplasia in transgenic mice. (15476249)
2004
14
Retinitis pigmentosa with osteochondrodysplasia in siblings. (11702989)
2001
15
A locus responsible for osteochondrodysplasia (ocd) is located on rat chromosome 11. (10818212)
2000
16
Congenital hypertrichosis, cardiomegaly, and osteochondrodysplasia (CantA_ syndrome): a new case with unusual radiological findings. (10817653)
2000
17
Autosomal dominant inheritance in CantA_ syndrome (congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly). (11050630)
2000
18
Blomstrand osteochondrodysplasia: three novel cases and histological evidence for heterogeneity. (10664159)
2000
19
A frame-shift mutation in the type I parathyroid hormone (PTH)/PTH-related peptide receptor causing Blomstrand lethal osteochondrodysplasia. (10523019)
1999
20
Osteochondrodysplasia in Scottish Fold cats. (10078353)
1999
21
Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: CantA_ syndrome. (10398267)
1999
22
A lethal osteochondrodysplasia with mesomelic brachymelia, round pelvis, and congenital hepatic fibrosis: two siblings born to consanguineous parents. (9426272)
1998
23
Lethal osteosclerotic osteochondrodysplasia with platyspondyly, metaphyseal widening, and intracellular inclusions in sibs. (9856576)
1998
24
Three patients with the osteochondrodysplasia and hypertrichosis syndrome--Cantu syndrome. (9571276)
1998
25
Osteochondrodysplasia occurring in transgenic mice expressing interferon-gamma. (9381654)
1997
26
Giant-cell chondrodysplasia in a male infant with clinical and radiological findings resembling the Piepkorn type of lethal osteochondrodysplasia. (9024569)
1997
27
First-trimester diagnosis of Blomstrand lethal osteochondrodysplasia. (9415697)
1997
28
Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: further delineation of a new genetic syndrome. (9056550)
1997
29
Blomstrand lethal osteochondrodysplasia. (8723092)
1996
30
Congenital hypertrichosis, cardiomegaly and mild osteochondrodysplasia. (8957508)
1996
31
Lethal osteochondrodysplasia and de novo autosomal translocation involving the long arm of chromosome 4. (8092197)
1994
32
A mutation in the amino-terminal end of the triple helix of type II collagen causing severe osteochondrodysplasia. (8486375)
1993
33
Histochemical and immunohistochemical distribution of glycosaminoglycans, type II collagen, and fibronectin in developing fetal cartilage of congenital osteochondrodysplasia rat (ocd/ocd). (1462255)
1992
34
Platyspondylic lethal osteochondrodysplasia: Shiraz type with radiological-pathological correlation. (1501958)
1992
35
A histological and histochemical study on glycosaminoglycans in epiphysial cartilage of osteochondrodysplasia rat (OCD/OCD). (1711949)
1991
36
Osteochondrodysplasia in Fryns syndrome. (1903587)
1991
37
Chromatographic analysis of glycosaminoglycans in epiphyseal cartilage of congenital osteochondrodysplasia (ocd/ocd) rat. (1790222)
1991
38
Osteochondrodysplasia with rhizomelia, platyspondyly, callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension. (1897572)
1991
39
Electron microscopic observations and electrophoresis of the glycosaminoglycans in the epiphyseal cartilage of the congenital osteochondrodysplasia rat (ocd/ocd). (2084516)
1990
40
Gross abnormalities of kidney in congenital osteochondrodysplasia rat (ocd/ocd). (2607723)
1989
41
Clinical, radiographic, pathologic, and genetic features of osteochondrodysplasia in Scottish deerhounds. (2777707)
1989
42
Congenital osteochondrodysplasia with systemic subcutaneous edema (ocd/ocd): a new lethal autosomal recessive mutant of the rat. (3367036)
1988
43
Cervical abnormalities in osteochondrodysplasia. (3240256)
1988
44
Animal models with chondrodysplasia/osteochondrodysplasia. (3222209)
1988
45
GH therapy in two patients with osteochondrodysplasia. (3240241)
1988
46
Pathologic changes of osteochondrodysplasia in infancy. A review. (3317225)
1987
47
Histopathologic examination in osteochondrodysplasia. Time for standardization. (3510058)
1986
48
Different types of osteochondrodysplasia in a consecutive series of newborns. (1184400)
1975
49
Unclassifed osteochondrodysplasia in a 21-year-old woman. (4417927)
1974
50
Unclassified osteochondrodysplasia with 14 years' observation time. (4417928)
1974

Genetic Variations for Osteochondrodysplasia

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Expression for genes affiliated with Osteochondrodysplasia

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

Search GEO for disease gene expression data for Osteochondrodysplasia.

Pathways for genes affiliated with Osteochondrodysplasia

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53Reactome, 37NCBI BioSystems Database, 29KEGG, 12EMD Millipore, 51QIAGEN
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Pathways related to Osteochondrodysplasia according to GeneCards/GeneDecks:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.2PAPSS2, SLC26A2
2
Hide members
9.9FLNC, FLNA
3
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9.9COMP, COL2A1, COL11A2
4
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9.9CTSK, COL11A2, COL2A1
5
Development Hedgehog and PTH signaling pathways in bone and cartilage development
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9.9COL2A1, PTH1R, PTHLH
6
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9.8COMP, COL2A1, COL11A2, CTSK
79.7FGFR3, COL11A2, COL2A1, COMP
89.7FLNA, FLNB, FLNC
99.7FLNA, FLNB, FLNC
109.7FGFR3, SOX9, COL11A2, COL2A1
11
Hide members
9.5FLNC, FLNB, FLNA, FGFR3
129.2ALPL, PTHLH, PTH1R, FGFR3, SOX9, COL2A1
13
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9.2COMP, COL2A1, COL11A2, FLNC, FLNB, FLNA
14
Hide members
8.9COL2A1, COL11A2, SOX9, FLNC, FLNB, FLNA

Compounds for genes affiliated with Osteochondrodysplasia

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44Novoseek, 11DrugBank, 24HMDB, 49PharmGKB, 28IUPHAR
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Compounds related to Osteochondrodysplasia according to GeneCards/GeneDecks:

(show all 20)
idCompoundScoreTop Affiliating Genes
1teriparatide44 1111.3PTH1R, CTSK
2pyridinoline4410.2COMP, COL2A1, PTHLH
3alginate4410.2SOX9, COL2A1, COMP
4pentosidine4410.1COL2A1, COMP
5chondroitin sulfate44 2411.1COMP, SOX9, CTSK
6alizarin4410.1ALPL, SP7
7hydroxyapatite4410.0CTSK, PTHLH, ALPL
8proline449.9COMP, COL11A2, SOX9, CTSK, PTH1R
9glycosaminoglycan449.8COMP, COL2A1, SOX9
10tartrate449.8PTHLH, CTSK
11phenylalanine449.8ALPL, FGFR3, FLNA, CTSK
12sulfate44 2410.8PAPSS2, COMP, COL2A1, CTSK, FGFR3, SLC26A2
13vitamin d449.7ALPL, PTHLH, PTH1R, COL2A1, COMP
14pyrophosphate44 2410.6COL2A1, NPR2, PAPSS2, PTHLH, ALPL
15cysteine449.4COMP, COL2A1, CTSK, FGFR3, SLC26A2, PAPSS2
16retinoic acid44 2410.4COMP, COL2A1, SOX9, CTSK, PTH1R, PTHLH
17oligonucleotide449.3ALPL, FGFR3, FLNA, COL2A1, COMP
18serine449.3COL2A1, SOX9, NPR2, CTSK, FLNA, FGFR3
19dexamethasone44 49 28 1112.2COL2A1, SOX9, NPR2, FGFR3, SLC26A2, PTH1R
20calcium44 49 11 2411.4COMP, COL2A1, NPR2, CTSK, FLNC, FLNA

GO Terms for genes affiliated with Osteochondrodysplasia

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

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:0055769.1COL2A1, COL11A2, CTSK, FLNA, FGFR3, PTHLH
2plasma membraneGO:0058868.1ALPL, DYM, NPR2, FLNC, FLNB, FLNA

Biological processes related to Osteochondrodysplasia according to GeneCards/GeneDecks:

(show all 18)
idNameGO IDScoreTop Affiliating Genes
13-phosphoadenosine 5-phosphosulfate biosynthetic processGO:05042810.4PAPSS2, SLC26A2
2notochord developmentGO:03090310.3SOX9, COL2A1
3negative regulation of chondrocyte differentiationGO:03233110.2PTHLH, SOX9
4bone developmentGO:06034810.2PAPSS2, NPR2, DYM
5limb bud formationGO:06017410.2COL2A1, SOX9
6chondrocyte differentiationGO:00206210.2COL2A1, FGFR3, PTH1R
7bone resorptionGO:04545310.2PTH1R, CTSK
83-phosphoadenosine 5-phosphosulfate metabolic processGO:05042710.2SLC26A2, PAPSS2
9ossificationGO:00150310.1SLC26A2, NPR2, SOX9
10cartilage developmentGO:05121610.1COL2A1, COL11A2, SOX9
11tissue homeostasisGO:00189410.1SOX9, COL2A1
12collagen catabolic processGO:03057410.1COL2A1, COL11A2, CTSK
13extracellular matrix disassemblyGO:02261710.1CTSK, COL11A2, COL2A1
14osteoblast developmentGO:00207610.0PTHLH, PTH1R
15extracellular matrix organizationGO:0301989.9COMP, COL2A1, COL11A2, SOX9, CTSK
16endochondral ossificationGO:0019589.8COL2A1, FGFR3, PTHLH, ALPL
17cartilage condensationGO:0015029.8SOX9, COL2A1
18skeletal system developmentGO:0015018.9ALPL, COMP, COL2A1, COL11A2, SOX9, TRAPPC2

Molecular functions related to Osteochondrodysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituent conferring tensile strengthGO:03002010.0COL11A2, COL2A1

Products for genes affiliated with Osteochondrodysplasia

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Sources for Osteochondrodysplasia

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet