MCID: BRC003
MIFTS: 26

Brachyolmia malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Brachyolmia

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Aliases & Descriptions for Brachyolmia:

Name: Brachyolmia 11 46 13 66
 
Brachyrachia 11

Classifications:



External Ids:

Disease Ontology11 DOID:0050690

Summaries for Brachyolmia

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Disease Ontology:11 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 brachyolmia type 3 and brachyolmia type 2, 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). Affiliated tissues include bone, and related mouse phenotypes are craniofacial and vision/eye.

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:

34
Bone

Animal Models for Brachyolmia or affiliated genes

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MGI Mouse Phenotypes related to Brachyolmia:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.1COL2A1, ENAM, FST, LTBP3, PAPSS2, WDR72
2MP:00053918.1COL2A1, FST, GALNS, LTBP3, TRPV4
3MP:00053907.6COL2A1, ENAM, FST, GALNS, LTBP3, PAPSS2
4MP:00053787.3COL2A1, ENAM, FST, GPX4, LTBP3, PAPSS2
5MP:00053766.5COL2A1, ENAM, FST, GALNS, GPX4, MGAM

Publications for Brachyolmia

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Articles related to Brachyolmia:

(show all 23)
idTitleAuthorsYear
1
Whole exome sequencing identified a novel COL2A1 mutation that causes mild Spondylo-epiphyseal dysplasia mimicking autosomal dominant brachyolmia. (26586363)
2016
2
Autosomal recessive brachyolmia: early radiological findings. (27544198)
2016
3
Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta. (25669657)
2015
4
Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course. (24677493)
2014
5
Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations. (23824674)
2013
6
PAPSS2 mutations cause autosomal recessive brachyolmia. (22791835)
2012
7
Wild-type and brachyolmia-causing mutant TRPV4 channels respond directly to stretch force. (20605796)
2010
8
Brachyolmia with amelogenesis imperfecta: further evidence of a distinct entity. (19213025)
2009
9
Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. (18587396)
2008
10
Two sibs with brachyolmia type Hobaek: five year follow-up through puberty. (12476457)
2003
11
Short trunk stature, brachydactyly, and platyspondyly in three sibs: a new form of brachyolmia or a new skeletal dysplasia? (12784309)
2003
12
Brachyolmia and spinal stenosis. (12833413)
2003
13
Familial brachyolmia. (10968486)
2000
14
A case of brachyolmia. (9339123)
1997
15
Toledo type brachyolmia. (8660094)
1996
16
Brachyolmia: a report of two cases. (7883917)
1995
17
Toledo type brachyolmia. (7826119)
1994
18
Brachyolmia: an autosomal dominant form. (8209891)
1994
19
Spondylar dysplasia (SD)/brachyolmia (BO), type I: search for qualitative anomalies in glycosaminoglycans (GAG) (1424247)
1992
20
Brachyolmia: a skeletal dysplasia with an altered mucopolysaccharide excretion. (1836753)
1991
21
Brachyolmia: radiographic and genetic evidence of heterogeneity. (2669482)
1989
22
Brachyolmia, recessive type (Hobaek): a clinical, radiographic, and histochemical study. (6650565)
1983
23
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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GO Terms for genes affiliated with Brachyolmia

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Biological processes related to Brachyolmia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1bone developmentGO:00603489.7COL2A1, PAPSS2

Sources for Brachyolmia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet