MCID: OST015
MIFTS: 44

Osteochondrodysplasia malady

Bone diseases category
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Summaries for Osteochondrodysplasia

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Wikipedia:65 Osteochondrodysplasia is a general term for a disorder of the development (dysplasia) of bone... more...

MalaCards based summary: 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:8 A bone development disease that results in defective development of cartilage or bone.

Aliases & Classifications for Osteochondrodysplasia

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Osteochondrodysplasia, Aliases & Descriptions:

Name: Osteochondrodysplasia 8 10
Congenital Anomaly of Cartilage 8 62
Osteochondrodysplasia Syndrome 8 22
Unspecified Anomaly of Cartilage 8
 
Cartilage Development Disorder 8
Mucopolysaccharidosis Iv 62
Chondrodystrophy 8


Classifications:

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


External Ids:

Disease Ontology8 DOID:2256
NCIt39 C34466
ICD9CM27 756.4

Related Diseases for Osteochondrodysplasia

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

(show top 50)    (show all 228)
idRelated DiseaseScoreTop Affiliating Genes
1spondyloepimetaphyseal dysplasia29.7RAB33B, DYM
2cantu syndrome10.4
3schwartz jampel syndrome type 110.3
4hypertrichosis10.3
5faye-petersen-ward-carey syndrome10.2
6multiple epiphyseal dysplasia10.2
7mccune albright syndrome10.1
8osteopoikilosis10.1
9pseudoachondroplasia10.1
10chondrodysplasia blomstrand type10.1
11omodysplasia 110.1
12ollier disease10.1
13achondroplasia10.1
14craniometaphyseal dysplasia10.1
15pycnodysostosis10.1
16chondrodysplasia10.1
17desbuquois syndrome10.1
18thanatophoric dysplasia type 110.1
19metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly10.1
20saldino-noonan syndrome10.0
21asphyxiating thoracic dystrophy10.0
22short rib-polydactyly syndrome type 310.0
23spondyloepiphyseal dysplasia congenita10.0
24cartilage-hair hypoplasia10.0
25diastrophic dysplasia10.0
26thanatophoric dysplasia10.0
27acrocapitofemoral dysplasia10.0
28osteogenesis imperfecta10.0
29otospondylomegaepiphyseal dysplasia10.0
30achondrogenesis type ia10.0
31acromesomelic dysplasia, hunter-thompson type10.0
32acromesomelic dysplasia, grebe type10.0
33acromesomelic dysplasia, maroteaux type10.0
34spondyloepimetaphyseal dysplasia, missouri type10.0
35kniest dysplasia10.0
36hypochondroplasia10.0
37achondrogenesis10.0
38metaphyseal dysplasia10.0
39fryns syndrome10.0
40rhizomelic chondrodysplasia punctata type 110.0
41acromicric dysplasia10.0
42angel shaped phalangoepiphyseal dysplasia10.0
43atelosteogenesis type 110.0
44atelosteogenesis type 310.0
45axial spondylometaphyseal dysplasia10.0
46bone dysplasia lethal holmgren type10.0
47bowing of legs, anterior with dwarfism10.0
48chondrodysplasia lethal recessive10.0
49craniofacial dysostosis with diaphyseal hyperplasia10.0
50dysosteosclerosis10.0

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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Drug clinical trials:

Search ClinicalTrials for Osteochondrodysplasia

Search NIH Clinical Center for Osteochondrodysplasia

Genetic Tests for Osteochondrodysplasia

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Genetic tests related to Osteochondrodysplasia:

id Genetic test Affiliating Genes
1 Osteochondrodysplasia22

Anatomical Context for Osteochondrodysplasia

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MalaCards organs/tissues related to Osteochondrodysplasia:

32
Bone, Kidney

Animal Models for Osteochondrodysplasia or affiliated genes

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MGI Mouse Phenotypes related to Osteochondrodysplasia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.9SLC26A2, DYM, SP7
2MP:00053718.6SLC26A2, DYM, SP7

Publications for Osteochondrodysplasia

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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
A new type of a lethal osteochondrodysplasia with angel-shaped brachyphalangy. (7981898)
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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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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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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet