MCID: BRC003
MIFTS: 30

Brachyolmia malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories
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Summaries for Brachyolmia

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Disease Ontology:8 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 1 hobaek type and spondyloepiphyseal dysplasia maroteaux type, and has symptoms including An important gene associated with Brachyolmia is TRPV4 (transient receptor potential cation channel, subfamily V, member 4). Affiliated tissues include bone.

Descriptions from OMIM:46 613678,113500,271630,271530

Aliases & Classifications for Brachyolmia

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Brachyolmia, Aliases & Descriptions:

Name: Brachyolmia 8 42 10 62
 
Brachyrachia 8 22


Classifications:

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


External Ids:

Disease Ontology8 DOID:0050690

Related Diseases for Brachyolmia

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Diseases in the Brachyolmia Type 3 family:

brachyolmia

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

idRelated DiseaseScoreTop Affiliating Genes
1brachyolmia type 1 hobaek type10.6
2spondyloepiphyseal dysplasia maroteaux type10.6
3brachyolmia type 310.4
4spondyloepiphyseal dysplasia tarda toledo type10.3
5brachyolmia 4 with mild epiphyseal and metaphyseal changes10.3
6brachyolmia-amelogenesis imperfecta syndrome10.3
7skeletal dysplasias10.2
8amelogenesis imperfecta10.0
9spinal stenosis10.0
10brachydactyly10.0

Graphical network of diseases related to Brachyolmia:



Diseases related to brachyolmia

Symptoms for Brachyolmia

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Clinical features from OMIM:

613678,113500,271630,271530

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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Genetic tests related to Brachyolmia:

id Genetic test Affiliating Genes
1 Brachyrachia (short Spine Dysplasia)22

Anatomical Context for Brachyolmia

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MalaCards organs/tissues related to Brachyolmia:

32
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 19)
idTitleAuthorsYear
1
Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course. (24677493)
2014
2
Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations. (23824674)
2013
3
PAPSS2 mutations cause autosomal recessive brachyolmia. (22791835)
2012
4
Wild-type and brachyolmia-causing mutant TRPV4 channels respond directly to stretch force. (20605796)
2010
5
Brachyolmia with amelogenesis imperfecta: further evidence of a distinct entity. (19213025)
2009
6
Two sibs with brachyolmia type Hobaek: five year follow-up through puberty. (12476457)
2003
7
Brachyolmia and spinal stenosis. (12833413)
2003
8
Short trunk stature, brachydactyly, and platyspondyly in three sibs: a new form of brachyolmia or a new skeletal dysplasia? (12784309)
2003
9
Familial brachyolmia. (10968486)
2000
10
A case of brachyolmia. (9339123)
1997
11
Toledo type brachyolmia. (8660094)
1996
12
Brachyolmia: a report of two cases. (7883917)
1995
13
Toledo type brachyolmia. (7826119)
1994
14
Brachyolmia: an autosomal dominant form. (8209891)
1994
15
Spondylar dysplasia (SD)/brachyolmia (BO), type I: search for qualitative anomalies in glycosaminoglycans (GAG) (1424247)
1992
16
Brachyolmia: a skeletal dysplasia with an altered mucopolysaccharide excretion. (1836753)
1991
17
Brachyolmia: radiographic and genetic evidence of heterogeneity. (2669482)
1989
18
Brachyolmia, recessive type (Hobaek): a clinical, radiographic, and histochemical study. (6650565)
1983
19
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 Name 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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Expression patterns in normal tissues for genes affiliated with Brachyolmia

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/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ATP bindingGO:0055249.0TRPV4, PAPSS2

Products for genes affiliated with Brachyolmia

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  • Antibodies
  • Proteins
  • Lysates

Sources for Brachyolmia

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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