MCID: OST015
MIFTS: 52

Osteochondrodysplasia malady

Summaries for Osteochondrodysplasia

Sources:
8Disease Ontology, 64Wikipedia, 33MalaCards
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Wikipedia:64 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 pseudoachondroplasia and osteogenesis imperfecta. 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. 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

Sources:
8Disease Ontology, 22GTR, 10DISEASES, 45Novoseek, 61UMLS, 57SNOMED-CT, 40NCIt, 27ICD9CM, 25ICD10
See all sources

Classifications:



Aliases & Descriptions:

osteochondrodysplasia 8 10
congenital anomaly of cartilage 8 61
osteochondrodysplasia syndrome 8 22
unspecified anomaly of cartilage 8
cartilage development disorder 8
mucopolysaccharidosis iv 61
osteochondrodysplasias 45
chondrodystrophy 8


External Ids:

Disease Ontology8 DOID:2256
NCIt40 C34466
ICD9CM27 756.4

Related Diseases for Osteochondrodysplasia

Sources:
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 92)
idRelated DiseaseScoreTop Affiliating Genes
1pseudoachondroplasia30.0SLC26A2, COMP
2osteogenesis imperfecta30.0COL2A1, FGFR3, PTH1R, ALPL, SP7
3achondrogenesis29.8SLC26A2
4multiple epiphyseal dysplasia29.8SLC26A2, COMP
5thanatophoric dysplasia29.8FGFR3, COMP, PTH1R
6otospondylomegaepiphyseal dysplasia29.8COL11A2, COL2A1
7diastrophic dysplasia29.8COL2A1, COMP, SLC26A2
8spondyloepimetaphyseal dysplasia29.8COMP, DYM, RAB33B, PAPSS2
9achondroplasia29.8COMP, SOX9, FGFR3, PTH1R, COL2A1
10campomelic dysplasia29.8SOX9, COL2A1
11skeletal dysplasias29.8PTHLH, PTH1R, SLC26A2, FGFR3, FLNA, FLNB
12mucopolysaccharidosis iv10.5
13cantu syndrome10.4
14morquio syndrome c10.3
15cant� syndrome10.3
16morquio syndrome b10.2
17schwartz jampel syndrome type 110.2
18chondrodysplasia10.1
19hydrops, ectopic calcification, moth-eaten skeletal dysplasia10.1
20muenke syndrome10.1
21fryns syndrome10.1
22sulfate transporter-related osteochondrodysplasia10.1
23saldino-noonan syndrome10.0
24asphyxiating thoracic dystrophy10.0
25achondrogenesis type ia10.0
26short rib-polydactyly syndrome type 310.0
27pierre robin sequence10.0SOX9
28infectious mononucleosis10.0FGFR3
29dysgerminoma10.0PTHLH
30osteonecrosis10.0ALPL
31pseudohypoparathyroidism10.0PTH1R, PTHLH
32weissenbacher-zweymuller syndrome10.0COL11A2, COL2A1
33relapsing polychondritis10.0COL2A1, COMP
34osteosclerosis10.0ALPL, CTSK
35atelosteogenesis10.0FLNB, SLC26A2
36brachydactyly10.0FGFR3, COMP, COL2A1
37pseudohypoparathyroidism type 1b10.0PTH1R, PTHLH
38x-linked spondyloepiphyseal dysplasia tarda10.0FGFR3, TRAPPC2, COL2A1
39cleft palate10.0COL11A2, COL2A1, SOX9
40hypophosphatemia10.0PTHLH, ALPL
41metaphyseal dysplasia10.0COL2A1, PTHLH, PTH1R
42pancreatitis10.0ALPL, FLNB
43stickler syndrome10.0COL11A2, COL2A1
44periventricular nodular heterotopia10.0FLNA
45hypercalcemia10.0ALPL, PTHLH, PTH1R
46arthropathy10.0ALPL, COL2A1, COMP
47osteochondroma10.0PTHLH, FGFR3
48rheumatoid arthritis10.0COL2A1, COMP, CTSK
49osteomalacia10.0ALPL, PTHLH, PTH1R
50secondary syphilis10.0PTHLH, ALPL, PTH1R, CTSK

Graphical network of the top 20 diseases related to Osteochondrodysplasia:



Diseases related to osteochondrodysplasia

Clinical Features for Osteochondrodysplasia

Drugs & Therapeutics for Osteochondrodysplasia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
22GTR
See all sources

Genetic tests related to Osteochondrodysplasia:

id Genetic test Affiliating Genes
1 Osteochondrodysplasia22

Anatomical Context for Osteochondrodysplasia

Animal Models for Osteochondrodysplasia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Osteochondrodysplasia

Sources:
51PubMed
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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
Incomplete dominant osteochondrodysplasia in heterozygous Scottish Fold cats. (18339089)
2008
4
Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene. (18000903)
2007
5
Osteochondrodysplasia in three Scottish Fold cats. (17679781)
2007
6
A new osteochondrodysplasia with severe osteopenia, preaxial polydactyly, clefting and dysmorphic features resembling filamin-related disorders. (17009344)
2006
7
Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities. (16086394)
2005
8
Neonatal lethal osteochondrodysplasia with low serum levels of alkaline phosphatase and osteocalcin. (15562030)
2005
9
Fryns syndrome with osteochondrodysplasia. (15793837)
2005
10
A human COL2A1 gene with an Arg519Cys mutation causes osteochondrodysplasia in transgenic mice. (15476249)
2004
11
Palliative irradiation of Scottish Fold osteochondrodysplasia. (15605854)
2004
12
Retinitis pigmentosa with osteochondrodysplasia in siblings. (11702989)
2001
13
A locus responsible for osteochondrodysplasia (ocd) is located on rat chromosome 11. (10818212)
2000
14
Congenital hypertrichosis, cardiomegaly, and osteochondrodysplasia (CantA_ syndrome): a new case with unusual radiological findings. (10817653)
2000
15
The genetic basis of the osteochondrodysplasias. (11008738)
2000
16
Autosomal dominant inheritance in CantA_ syndrome (congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly). (11050630)
2000
17
Blomstrand osteochondrodysplasia: three novel cases and histological evidence for heterogeneity. (10664159)
2000
18
A frame-shift mutation in the type I parathyroid hormone (PTH)/PTH-related peptide receptor causing Blomstrand lethal osteochondrodysplasia. (10523019)
1999
19
Osteochondrodysplasia in Scottish Fold cats. (10078353)
1999
20
Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: CantA_ syndrome. (10398267)
1999
21
A lethal osteochondrodysplasia with mesomelic brachymelia, round pelvis, and congenital hepatic fibrosis: two siblings born to consanguineous parents. (9426272)
1998
22
Lethal osteosclerotic osteochondrodysplasia with platyspondyly, metaphyseal widening, and intracellular inclusions in sibs. (9856576)
1998
23
Osteochondrodysplasia occurring in transgenic mice expressing interferon-gamma. (9381654)
1997
24
First-trimester diagnosis of Blomstrand lethal osteochondrodysplasia. (9415697)
1997
25
Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: further delineation of a new genetic syndrome. (9056550)
1997
26
Congenital hypertrichosis, cardiomegaly and mild osteochondrodysplasia. (8957508)
1996
27
Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. (7859284)
1995
28
A new type of a lethal osteochondrodysplasia with angel-shaped brachyphalangy. (7981898)
1994
29
Lethal osteochondrodysplasia and de novo autosomal translocation involving the long arm of chromosome 4. (8092197)
1994
30
A mutation in the amino-terminal end of the triple helix of type II collagen causing severe osteochondrodysplasia. (8486375)
1993
31
Histochemical and immunohistochemical distribution of glycosaminoglycans, type II collagen, and fibronectin in developing fetal cartilage of congenital osteochondrodysplasia rat (ocd/ocd). (1462255)
1992
32
Platyspondylic lethal osteochondrodysplasia: Shiraz type with radiological-pathological correlation. (1501958)
1992
33
Chromatographic analysis of glycosaminoglycans in epiphyseal cartilage of congenital osteochondrodysplasia (ocd/ocd) rat. (1790222)
1991
34
Osteochondrodysplasia with rhizomelia, platyspondyly, callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension. (1897572)
1991
35
Electron microscopic observations and electrophoresis of the glycosaminoglycans in the epiphyseal cartilage of the congenital osteochondrodysplasia rat (ocd/ocd). (2084516)
1990
36
Gross abnormalities of kidney in congenital osteochondrodysplasia rat (ocd/ocd). (2607723)
1989
37
Clinical, radiographic, pathologic, and genetic features of osteochondrodysplasia in Scottish deerhounds. (2777707)
1989
38
A technique for necropsy evaluation of stenosis of the foramen magnum and rostral spinal canal in osteochondrodysplasia. (3192205)
1988
39
Congenital osteochondrodysplasia with systemic subcutaneous edema (ocd/ocd): a new lethal autosomal recessive mutant of the rat. (3367036)
1988
40
Cervical abnormalities in osteochondrodysplasia. (3240256)
1988
41
GH therapy in two patients with osteochondrodysplasia. (3240241)
1988
42
Pathologic changes of osteochondrodysplasia in infancy. A review. (3317225)
1987
43
Histopathologic examination in osteochondrodysplasia. Time for standardization. (3510058)
1986
44
Osteochondrodysplasia in a litter of Bulldog puppies. (6631901)
1983
45
A distinct osteochondrodysplasia with hypertrichosis- Individualization of a probable autosomal recessive entity. (7076246)
1982
46
Osteochondrodysplasia Irapa type: an ethnic marker gene in two subcontinents. (6945045)
1981
47
Different types of osteochondrodysplasia in a consecutive series of newborns. (1184400)
1975
48
Unclassifed osteochondrodysplasia in a 21-year-old woman. (4417927)
1974
49
Unclassified osteochondrodysplasia with 14 years' observation time. (4417928)
1974
50
Congenital coxa vara, osteochondrodysplasia of the femoral neck. (13186113)
1954

Genetic Variations for Osteochondrodysplasia

Expression for genes affiliated with Osteochondrodysplasia

Sources:
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

Sources:
54Reactome, 38NCBI BioSystems Database, 30KEGG, 12EMD Millipore, 52QIAGEN
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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
10.2SLC26A2, PAPSS2
2
Hide members
9.9FLNC, FLNA
3
Hide members
9.9COL2A1, COMP, COL11A2
4
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9.9COL11A2, COL2A1, CTSK
5
Development Hedgehog and PTH signaling pathways in bone and cartilage development
Hide members
9.9PTHLH, COL2A1, PTH1R
6
Hide members
9.8CTSK, COL11A2, COL2A1, COMP
79.7COMP, COL2A1, FGFR3, COL11A2
89.7FLNC, FLNB, FLNA
99.7FLNB, FLNC, FLNA
109.7COL11A2, SOX9, FGFR3, COL2A1
11
Hide members
9.5FLNC, FLNB, FLNA, FGFR3
129.2ALPL, COL2A1, SOX9, FGFR3, PTH1R, PTHLH
13
Hide members
9.2FLNB, FLNA, COL11A2, COL2A1, COMP, FLNC
14
Hide members
8.9FGFR3, COL2A1, SOX9, FLNC, COL11A2, FLNA

Compounds for genes affiliated with Osteochondrodysplasia

Sources:
45Novoseek, 11DrugBank, 24HMDB, 50PharmGKB, 29IUPHAR
See all sources

Compounds related to Osteochondrodysplasia according to GeneCards/GeneDecks:

(show all 20)
idCompoundScoreTop Affiliating Genes
1teriparatide45 1111.3PTH1R, CTSK
2pyridinoline4510.2COMP, COL2A1, PTHLH
3alginate4510.2SOX9, COL2A1, COMP
4pentosidine4510.1COMP, COL2A1
5chondroitin sulfate45 2411.1CTSK, COMP, SOX9
6alizarin4510.1SP7, ALPL
7hydroxyapatite4510.0CTSK, PTHLH, ALPL
8proline459.9COMP, SOX9, CTSK, PTH1R, COL11A2
9glycosaminoglycan459.8COMP, COL2A1, SOX9
10tartrate459.8CTSK, PTHLH
11phenylalanine459.8CTSK, FGFR3, FLNA, ALPL
12sulfate45 2410.8COMP, SLC26A2, FGFR3, CTSK, COL2A1, PAPSS2
13vitamin d459.7PTHLH, COMP, COL2A1, PTH1R, ALPL
14pyrophosphate45 2410.6COL2A1, NPR2, PAPSS2, PTHLH, ALPL
15cysteine459.4PAPSS2, COMP, COL2A1, CTSK, FGFR3, SLC26A2
16retinoic acid45 2410.4ALPL, PTH1R, CTSK, SOX9, COL2A1, COMP
17oligonucleotide459.3COMP, ALPL, COL2A1, FLNA, FGFR3
18serine459.3COL2A1, PTH1R, FGFR3, FLNA, CTSK, NPR2
19dexamethasone45 50 29 1112.2NPR2, SOX9, COL2A1, PTHLH, FGFR3, SLC26A2
20calcium45 50 11 2411.4FLNA, COMP, COL2A1, NPR2, CTSK, FLNC

GO Terms for genes affiliated with Osteochondrodysplasia

Sources:
16Gene Ontology
See all sources

Cellular components related to Osteochondrodysplasia according to GeneCards/GeneDecks:

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

Biological processes related to Osteochondrodysplasia according to GeneCards/GeneDecks:

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

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