MCID: BRC003
MIFTS: 21

Brachyolmia malady

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

Aliases & Classifications for Brachyolmia

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Brachyolmia, Aliases & Descriptions:

Name: Brachyolmia 9 41 11 60
 
Brachyrachia 9


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases


External Ids:

Disease Ontology9 DOID:0050690

Summaries for Brachyolmia

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Disease Ontology:9 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 1 hobaek type, 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.

Related Diseases for Brachyolmia

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Diseases in the Brachyolmia family:

Brachyolmia Type 3

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

idRelated DiseaseScoreTop Affiliating Genes
1brachyolmia type 310.6
2brachyolmia type 1 hobaek type10.5
3brachyolmia 4 with mild epiphyseal and metaphyseal changes10.4
4sed, maroteaux type10.4
5spondyloepiphyseal dysplasia tarda toledo type10.3
6amelogenesis imperfecta10.2
7skeletal dysplasias10.2
8verloes bourguignon syndrome10.2
9spinal stenosis10.0
10brachydactyly10.0

Graphical network of 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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Drug clinical trials:

Search ClinicalTrials for Brachyolmia

Search 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:

31
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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Clinvar genetic disease variations for Brachyolmia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1TRPV4NM_021625.4(TRPV4): c.1847G> A (p.Arg616Gln)single nucleotide variantPathogenicrs121912632GRCh37Chr 12, 110230212: 110230212
2TRPV4NM_021625.4(TRPV4): c.1858G> A (p.Val620Ile)single nucleotide variantPathogenicrs121912633GRCh37Chr 12, 110230201: 110230201

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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Compounds for genes affiliated with Brachyolmia

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GO Terms for genes affiliated with Brachyolmia

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Molecular functions related to Brachyolmia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ATP bindingGO:00055249.0TRPV4, PAPSS2

Products for genes affiliated with Brachyolmia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Brachyolmia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet