MCID: BRC003
MIFTS: 21

Brachyolmia malady

Summaries for Brachyolmia

Sources:
47OMIM, 33MalaCards
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MalaCards: Brachyolmia, also known as brachyrachia, is related to brachyolmia type 3 and spondyloepiphyseal dysplasia maroteaux type. An important gene associated with Brachyolmia is TRPV4 (transient receptor potential cation channel, subfamily V, member 4).

Description from OMIM:47 113500

Aliases & Classifications for Brachyolmia

Sources:
8Disease Ontology, 43NIH Rare Diseases, 22GTR, 10DISEASES, 61UMLS, 47OMIM
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Aliases & Descriptions:

brachyolmia 8 43 10 61
brachyrachia 8 22


External Ids:

Disease Ontology8 DOID:0050690
OMIM47 113500

Related Diseases for Brachyolmia

Sources:
17GeneCards, 18GeneDecks
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Graphical network of diseases related to Brachyolmia:



Diseases related to brachyolmia

Clinical Features for Brachyolmia

Sources:
47OMIM
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Clinical features from OMIM:

113500

Drugs & Therapeutics for Brachyolmia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Brachyolmia

Drug clinical trials:

Search ClinicalTrials for Brachyolmia

Search NIH Clinical Center for Brachyolmia

Search CenterWatch for Brachyolmia

Genetic Tests for Brachyolmia

Sources:
22GTR
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Genetic tests related to Brachyolmia:

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

Anatomical Context for Brachyolmia

Animal Models for Brachyolmia or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Brachyolmia

Sources:
51PubMed
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Articles related to Brachyolmia:

(show all 19)
idTitleAuthorsYear
1
Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations. (23824674)
2013
2
PAPSS2 mutations cause autosomal recessive brachyolmia. (22791835)
2012
3
Wild-type and brachyolmia-causing mutant TRPV4 channels respond directly to stretch force. (20605796)
2010
4
Brachyolmia with amelogenesis imperfecta: further evidence of a distinct entity. (19213025)
2009
5
Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. (18587396)
2008
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

Genetic Variations for Brachyolmia

Expression for genes affiliated with Brachyolmia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

Compounds for genes affiliated with Brachyolmia

GO Terms for genes affiliated with Brachyolmia

Products for genes affiliated with Brachyolmia

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Brachyolmia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet