MCID: BRC045
MIFTS: 23

Brachyolmia Type 3 malady

Bone, Fetal categories

Summaries for Brachyolmia Type 3

Sources:
47OMIM, 33MalaCards
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MalaCards: Brachyolmia Type 3, also known as brachyolmia, is related to brachyolmia and spondyloepiphyseal dysplasia maroteaux type, and has symptoms including scoliosis, kyphosis and autosomal dominant inheritance. An important gene associated with Brachyolmia Type 3 is TRPV4 (transient receptor potential cation channel, subfamily V, member 4).

Description from OMIM:47 271530,613678,271630,113500,601216

Aliases & Classifications for Brachyolmia Type 3

Sources:
49Orphanet, 47OMIM, 61UMLS, 43NIH Rare Diseases, 20GeneTests, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Bone


Characteristics (Orphanet epidemiological data):

49
brachyolmia:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Childhood; Age of death: Normal
brachyolmia type 3:
Inheritance: Autosomal dominant


Aliases & Descriptions:

brachyolmia type 3 43 20 47 49
brachyolmia 49 47 61
brachyolmia autosomal dominant 43
autosomal dominant brachyolmia 49
brachyrachia 43


External Ids:

MESH via Orphanet36 C537098
ICD10 via Orphanet26 Q76.3
SNOMED-CT via Orphanet58 254088006
UMLS via Orphanet62 C0432228

Related Diseases for Brachyolmia Type 3

Sources:
17GeneCards, 18GeneDecks
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Graphical network of diseases related to Brachyolmia Type 3:



Diseases related to brachyolmia type 3

Clinical Features for Brachyolmia Type 3

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

271530,613678,271630,113500,601216

Clinical synopsis from OMIM:

113500

Symptoms:

49 (show all 8)
  • scoliosis
  • kyphosis
  • autosomal dominant inheritance
  • abnormal vertebral size/shape
  • short stature/dwarfism/nanism
  • metaphyseal anomaly
  • platyspondyly
  • short rib cage/thorax

Drugs & Therapeutics for Brachyolmia Type 3

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

Search CenterWatch for Brachyolmia Type 3

Drug clinical trials:

Search ClinicalTrials for Brachyolmia Type 3

Search NIH Clinical Center for Brachyolmia Type 3

Search CenterWatch for Brachyolmia Type 3

Genetic Tests for Brachyolmia Type 3

Sources:
20GeneTests
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Genetic tests related to Brachyolmia Type 3:

id Genetic test Affiliating Genes
1 Brachyolmia Type 320 TRPV4

Anatomical Context for Brachyolmia Type 3

Animal Models for Brachyolmia Type 3 or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Brachyolmia Type 3

Genetic Variations for Brachyolmia Type 3

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Brachyolmia Type 3:

63
id Symbol AA change Variation SNP ID
1TRPV4p.Arg616GlnVAR_054805
2TRPV4p.Val620IleVAR_054806

Expression for genes affiliated with Brachyolmia Type 3

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Brachyolmia Type 3

Search GEO for disease gene expression data for Brachyolmia Type 3.

Pathways for genes affiliated with Brachyolmia Type 3

Compounds for genes affiliated with Brachyolmia Type 3

GO Terms for genes affiliated with Brachyolmia Type 3

Products for genes affiliated with Brachyolmia Type 3

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Brachyolmia Type 3

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