MCID: OST015
MIFTS: 45

Osteochondrodysplasia malady

Bone diseases category

Summaries for Osteochondrodysplasia

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9Disease Ontology, 66Wikipedia, 34MalaCards
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Wikipedia:66 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 spondyloepimetaphyseal dysplasia and cantu syndrome. An important gene associated with Osteochondrodysplasia is DYM (dymeclin). Affiliated tissues include bone and kidney, and related mouse phenotypes are skeleton and limbs/digits/tail.

Disease Ontology:9 A bone development disease that results in defective development of cartilage or bone.

Aliases & Classifications for Osteochondrodysplasia

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9Disease Ontology, 23GTR, 11DISEASES, 46Novoseek, 63UMLS, 59SNOMED-CT, 28ICD9CM, 41NCIt, 26ICD10
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Classifications:

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


Aliases & Descriptions:

osteochondrodysplasia 9 11
congenital anomaly of cartilage 9 63
osteochondrodysplasia syndrome 9 23
unspecified anomaly of cartilage 9
cartilage development disorder 9
mucopolysaccharidosis iv 63
osteochondrodysplasias 46
chondrodystrophy 9


External Ids:

Disease Ontology9 DOID:2256
ICD9CM28 756.4
NCIt41 C34466

Related Diseases for Osteochondrodysplasia

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18GeneCards, 19GeneDecks
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Diseases related to Osteochondrodysplasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 232)
idRelated DiseaseScoreTop Affiliating Genes
1spondyloepimetaphyseal dysplasia29.9RAB33B, DYM
2cantu syndrome10.3
3schwartz jampel syndrome type 110.2
4hypertrichosis10.2
5multiple epiphyseal dysplasia10.2
6mccune albright syndrome10.1
7osteopoikilosis10.1
8pseudoachondroplasia10.1
9omodysplasia 110.1
10ollier disease10.1
11achondroplasia10.1
12craniometaphyseal dysplasia10.1
13pycnodysostosis10.1
14chondrodysplasia10.1
15chondrodysplasia blomstrand type10.1
16desbuquois syndrome10.1
17thanatophoric dysplasia type 110.1
18metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly10.1
19saldino-noonan syndrome10.0
20asphyxiating thoracic dystrophy10.0
21short rib-polydactyly syndrome type 310.0
22osteoporosis10.0SLC26A2, SP7
23spondyloepiphyseal dysplasia congenita10.0
24cartilage-hair hypoplasia10.0
25thanatophoric dysplasia10.0
26acrocapitofemoral dysplasia10.0
27osteogenesis imperfecta10.0
28otospondylomegaepiphyseal dysplasia10.0
29acromesomelic dysplasia, hunter-thompson type10.0
30albright's hereditary osteodystrophy10.0
31achondrogenesis type ib10.0
32acromesomelic dysplasia, grebe type10.0
33spondyloepimetaphyseal dysplasia, missouri type10.0
34acromesomelic dysplasia, maroteaux type10.0
35kniest dysplasia10.0
36hypochondroplasia10.0
37diastrophic dysplasia10.0
38achondrogenesis10.0
39metaphyseal dysplasia10.0
40fryns syndrome10.0
41rhizomelic chondrodysplasia punctata type 110.0
42acromicric dysplasia10.0
43acropectorovertebral dysplasia f form10.0
44angel shaped phalangoepiphyseal dysplasia10.0
45atelosteogenesis type 110.0
46atelosteogenesis type 310.0
47axial spondylometaphyseal dysplasia10.0
48bone dysplasia lethal holmgren type10.0
49bowing of legs, anterior with dwarfism10.0
50chondrodysplasia lethal recessive10.0

Graphical network of the top 20 diseases related to Osteochondrodysplasia:



Diseases related to osteochondrodysplasia

Symptoms for Osteochondrodysplasia

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Drugs & Therapeutics for Osteochondrodysplasia

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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23GTR
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Genetic tests related to Osteochondrodysplasia:

id Genetic test Affiliating Genes
1 Osteochondrodysplasia23

Anatomical Context for Osteochondrodysplasia

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34MalaCards
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MalaCards organs/tissues related to Osteochondrodysplasia:

34
Bone, Kidney

Animal Models for Osteochondrodysplasia or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Osteochondrodysplasia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.9SLC26A2, DYM, SP7
2MP:00053718.6SLC26A2, DYM, SP7

Publications for Osteochondrodysplasia

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53PubMed
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Articles related to Osteochondrodysplasia:

(show top 50)    (show all 59)
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
A new osteochondrodysplasia with severe osteopenia, preaxial polydactyly, clefting and dysmorphic features resembling filamin-related disorders. (17009344)
2006
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
Palliative irradiation of Scottish Fold osteochondrodysplasia. (15605854)
2004
15
Retinitis pigmentosa with osteochondrodysplasia in siblings. (11702989)
2001
16
A locus responsible for osteochondrodysplasia (ocd) is located on rat chromosome 11. (10818212)
2000
17
Congenital hypertrichosis, cardiomegaly, and osteochondrodysplasia (CantA_ syndrome): a new case with unusual radiological findings. (10817653)
2000
18
The genetic basis of the osteochondrodysplasias. (11008738)
2000
19
Autosomal dominant inheritance in CantA_ syndrome (congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly). (11050630)
2000
20
A frame-shift mutation in the type I parathyroid hormone (PTH)/PTH-related peptide receptor causing Blomstrand lethal osteochondrodysplasia. (10523019)
1999
21
Osteochondrodysplasia in Scottish Fold cats. (10078353)
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
Blomstrand lethal osteochondrodysplasia. (8723092)
1996
29
Congenital hypertrichosis, cardiomegaly and mild osteochondrodysplasia. (8957508)
1996
30
Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. (7859284)
1995
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
Electron microscopic observations and electrophoresis of the glycosaminoglycans in the epiphyseal cartilage of the congenital osteochondrodysplasia rat (ocd/ocd). (2084516)
1990
39
Gross abnormalities of kidney in congenital osteochondrodysplasia rat (ocd/ocd). (2607723)
1989
40
Clinical, radiographic, pathologic, and genetic features of osteochondrodysplasia in Scottish deerhounds. (2777707)
1989
41
A technique for necropsy evaluation of stenosis of the foramen magnum and rostral spinal canal in osteochondrodysplasia. (3192205)
1988
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
Histopathologic examination in osteochondrodysplasia. Time for standardization. (3510058)
1986
46
Osteochondrodysplasia in a litter of Bulldog puppies. (6631901)
1983
47
A distinct osteochondrodysplasia with hypertrichosis- Individualization of a probable autosomal recessive entity. (7076246)
1982
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
Congenital coxa vara, osteochondrodysplasia of the femoral neck. (13186113)
1954

Variations for Osteochondrodysplasia

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Expression for genes affiliated with Osteochondrodysplasia

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Osteochondrodysplasia

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Pathways for genes affiliated with Osteochondrodysplasia

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Compounds for genes affiliated with Osteochondrodysplasia

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GO Terms for genes affiliated with Osteochondrodysplasia

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17Gene Ontology
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Cellular components related to Osteochondrodysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Golgi apparatusGO:0057948.7TRAPPC2, RAB33B, DYM

Molecular functions related to Osteochondrodysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ion channel bindingGO:0443259.5TRAPPC2, ABCC9

Products for genes affiliated with Osteochondrodysplasia

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Sources for Osteochondrodysplasia

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet