MCID: BRC003
MIFTS: 30

Brachyolmia malady

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

Aliases & Classifications for Brachyolmia

About this section

Aliases & Descriptions for Brachyolmia:

Name: Brachyolmia 10 45 12 65
 
Brachyrachia 10

Classifications:



External Ids:

Disease Ontology10 DOID:0050690
UMLS65 C0432228

Summaries for Brachyolmia

About this section
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 brachyolmia type 3 and brachyolmia 4 with mild epiphyseal and metaphyseal changes, 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, endothelial and testes, and related mouse phenotypes are vision/eye and skeleton.

Related Diseases for Brachyolmia

About this section

Diseases in the Brachyolmia family:

Brachyolmia Type 3

Diseases related to Brachyolmia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
idRelated DiseaseScoreTop Affiliating Genes
1brachyolmia type 312.2
2brachyolmia 4 with mild epiphyseal and metaphyseal changes12.1
3brachyolmia type 1 hobaek type12.0
4brachyolmia-amelogenesis imperfecta syndrome11.9
5sed, maroteaux type11.3
6dental anomalies and short stature11.2
7spondyloepiphyseal dysplasia tarda toledo type11.0
8arrhythmogenic right ventricular dysplasia 110.5LTBP2, LTBP3
9spinocerebellar ataxia 2010.5LTBP2, LTBP3
10microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma10.5LTBP2, LTBP3
11weill-marchesani syndrome 3, recessive10.5LTBP2, LTBP3
12acute contagious conjunctivitis10.5LTBP2, LTBP3
13hydrophthalmos10.5LTBP2, LTBP3
14autosomal dominant non-syndromic intellectual disability10.5LTBP2, LTBP3
15esophageal duplication cyst10.5ENAM, LTBP3
16papillary extrahepatic bile duct adenocarcinoma10.4ENAM, WDR72
17smed strudwick type10.4COL2A1, TRPV4
18stickler syndrome10.3COL2A1, TRPV4
19urethral urothelial papilloma10.3ENAM, WDR72
20epidermolysis bullosa, pretibial10.3COL2A1, TRPV4
21epidemic typhus10.2LTBP2, LTBP3
22skeleto cardiac syndrome with thrombocytopenia10.2COL2A1, PAPSS2, TRPV4
23slc16a1-related hyperinsulinism10.2COL2A1, TRPV4
24myopathy with extrapyramidal signs10.2COL2A1, GALNS
25anal fistula10.2ENAM, WDR72
26achondrogenesis, type ii or hypochondrogenesis10.1COL2A1, GALNS, TRPV4
27amelogenesis imperfecta10.1
28skeletal dysplasias10.1
29skeletal dysplasia10.1
30spondyloepimetaphyseal dysplasia10.0COL2A1, PAPSS2
31epileptic encephalopathy, early infantile, 110.0COL2A1, TRAPPC2B
32separation anxiety disorder9.9LTBP2, LTBP3
33spinal stenosis9.9
34brachydactyly9.9
35darier disease9.7COL2A1, GALNS, TRAPPC2B
36brown-vialetto-van laere syndrome6.1COL2A1, ENAM, FST, GALNS, HSPB3, LTBP2

Graphical network of the top 20 diseases related to Brachyolmia:



Diseases related to brachyolmia

Symptoms for Brachyolmia

About this section

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

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Brachyolmia

Genetic Tests for Brachyolmia

About this section

Anatomical Context for Brachyolmia

About this section

MalaCards organs/tissues related to Brachyolmia:

33
Bone, Endothelial, Testes, Tongue

Animal Models for Brachyolmia or affiliated genes

About this section

MGI Mouse Phenotypes related to Brachyolmia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.0COL2A1, FST, GALNS, LTBP2, LTBP3, TRPV4
2MP:00053907.8COL2A1, ENAM, FST, GALNS, LTBP3, PAPSS2
3MP:00053827.6COL2A1, ENAM, FST, LTBP3, PAPSS2, WDR72

Publications for Brachyolmia

About this section

Articles related to Brachyolmia:

(show all 22)
idTitleAuthorsYear
1
Whole exome sequencing identified a novel COL2A1 mutation that causes mild Spondylo-epiphyseal dysplasia mimicking autosomal dominant brachyolmia. (26586363)
2016
2
Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta. (25669657)
2015
3
Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course. (24677493)
2014
4
Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations. (23824674)
2013
5
PAPSS2 mutations cause autosomal recessive brachyolmia. (22791835)
2012
6
Wild-type and brachyolmia-causing mutant TRPV4 channels respond directly to stretch force. (20605796)
2010
7
Brachyolmia with amelogenesis imperfecta: further evidence of a distinct entity. (19213025)
2009
8
Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. (18587396)
2008
9
Two sibs with brachyolmia type Hobaek: five year follow-up through puberty. (12476457)
2003
10
Brachyolmia and spinal stenosis. (12833413)
2003
11
Short trunk stature, brachydactyly, and platyspondyly in three sibs: a new form of brachyolmia or a new skeletal dysplasia? (12784309)
2003
12
Familial brachyolmia. (10968486)
2000
13
A case of brachyolmia. (9339123)
1997
14
Toledo type brachyolmia. (8660094)
1996
15
Brachyolmia: a report of two cases. (7883917)
1995
16
Toledo type brachyolmia. (7826119)
1994
17
Brachyolmia: an autosomal dominant form. (8209891)
1994
18
Spondylar dysplasia (SD)/brachyolmia (BO), type I: search for qualitative anomalies in glycosaminoglycans (GAG) (1424247)
1992
19
Brachyolmia: a skeletal dysplasia with an altered mucopolysaccharide excretion. (1836753)
1991
20
Brachyolmia: radiographic and genetic evidence of heterogeneity. (2669482)
1989
21
Brachyolmia, recessive type (Hobaek): a clinical, radiographic, and histochemical study. (6650565)
1983
22
Excretion of chondroitin sulfate C with low sulfate content by patients with generalized platyspondyly (brachyolmia). (4268486)
1973

Variations for Brachyolmia

About this section

Expression for genes affiliated with Brachyolmia

About this section
Search GEO for disease gene expression data for Brachyolmia.

Pathways for genes affiliated with Brachyolmia

About this section

GO Terms for genes affiliated with Brachyolmia

About this section

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

idNameGO IDScoreTop Affiliating Genes
1skeletal system developmentGO:00015019.7COL2A1, PAPSS2

Sources for Brachyolmia

About this section
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