MCID: BRC003
MIFTS: 23

Brachyolmia malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories

Aliases & Classifications for Brachyolmia

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Aliases & Descriptions for Brachyolmia:

Name: Brachyolmia 10 45 12 65
 
Brachyrachia 10


Classifications:



External Ids:

Disease Ontology10 DOID:0050690

Summaries for Brachyolmia

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Disease Ontology:10 An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature.

MalaCards based summary: Brachyolmia, also known as brachyrachia, is related to dental anomalies and short stature and brachyolmia type 3, and has symptoms including platyspondyly, short stature and short thorax. An important gene associated with Brachyolmia is TRPV4 (Transient Receptor Potential Cation Channel, Subfamily V, Member 4), and among its related pathways is Elastic fibre formation. Affiliated tissues include bone.

Related Diseases for Brachyolmia

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Graphical network of the top 20 diseases related to Brachyolmia:



Diseases related to brachyolmia

Symptoms for Brachyolmia

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HPO human phenotypes related to Brachyolmia:

id Description Frequency HPO Source Accession
1 platyspondyly hallmark (90%) HP:0000926
2 short stature hallmark (90%) HP:0004322
3 short thorax hallmark (90%) HP:0010306

Drugs & Therapeutics for Brachyolmia

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Brachyolmia

Genetic Tests for Brachyolmia

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Anatomical Context for Brachyolmia

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MalaCards organs/tissues related to Brachyolmia:

33
Bone

Animal Models for Brachyolmia or affiliated genes

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Publications for Brachyolmia

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Articles related to Brachyolmia:

(show all 21)
idTitleAuthorsYear
1
Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta. (25669657)
2015
2
Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course. (24677493)
2014
3
Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations. (23824674)
2013
4
PAPSS2 mutations cause autosomal recessive brachyolmia. (22791835)
2012
5
Wild-type and brachyolmia-causing mutant TRPV4 channels respond directly to stretch force. (20605796)
2010
6
Brachyolmia with amelogenesis imperfecta: further evidence of a distinct entity. (19213025)
2009
7
Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. (18587396)
2008
8
Two sibs with brachyolmia type Hobaek: five year follow-up through puberty. (12476457)
2003
9
Brachyolmia and spinal stenosis. (12833413)
2003
10
Short trunk stature, brachydactyly, and platyspondyly in three sibs: a new form of brachyolmia or a new skeletal dysplasia? (12784309)
2003
11
Familial brachyolmia. (10968486)
2000
12
A case of brachyolmia. (9339123)
1997
13
Toledo type brachyolmia. (8660094)
1996
14
Brachyolmia: a report of two cases. (7883917)
1995
15
Toledo type brachyolmia. (7826119)
1994
16
Brachyolmia: an autosomal dominant form. (8209891)
1994
17
Spondylar dysplasia (SD)/brachyolmia (BO), type I: search for qualitative anomalies in glycosaminoglycans (GAG) (1424247)
1992
18
Brachyolmia: a skeletal dysplasia with an altered mucopolysaccharide excretion. (1836753)
1991
19
Brachyolmia: radiographic and genetic evidence of heterogeneity. (2669482)
1989
20
Brachyolmia, recessive type (Hobaek): a clinical, radiographic, and histochemical study. (6650565)
1983
21
Excretion of chondroitin sulfate C with low sulfate content by patients with generalized platyspondyly (brachyolmia). (4268486)
1973

Variations for Brachyolmia

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Expression for genes affiliated with Brachyolmia

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Search GEO for disease gene expression data for Brachyolmia.

Pathways for genes affiliated with Brachyolmia

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Pathways related to Brachyolmia according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.8LTBP2, LTBP3

GO Terms for genes affiliated with Brachyolmia

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Sources for Brachyolmia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet