MCID: BRC045
MIFTS: 30

Brachyolmia Type 3 malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories
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Summaries for Brachyolmia Type 3

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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 metaphyseal anomaly, short stature/dwarfism/nanism and autosomal dominant inheritance. An important gene associated with Brachyolmia Type 3 is TRPV4 (transient receptor potential cation channel, subfamily V, member 4). Affiliated tissues include bone.

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

Aliases & Classifications for Brachyolmia Type 3

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Sources:
49Orphanet, 47OMIM, 62UMLS, 43NIH Rare Diseases, 20GeneTests, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:

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


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 62
brachyolmia autosomal dominant 43
autosomal dominant brachyolmia 49
brachyrachia 43


External Ids:

MESH via Orphanet36 C537098
ICD10 via Orphanet26 Q76.3
SNOMED-CT via Orphanet59 254088006
UMLS via Orphanet63 C0432228

Related Diseases for Brachyolmia Type 3

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



Diseases related to brachyolmia type 3

Symptoms for Brachyolmia Type 3

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

113500

Clinical features from OMIM:

271530,613678,271630,113500,601216

Symptoms:

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

Drugs & Therapeutics for Brachyolmia Type 3

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Brachyolmia Type 3

Search NIH Clinical Center for Brachyolmia Type 3

Genetic Tests for Brachyolmia Type 3

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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

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33MalaCards
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MalaCards organs/tissues related to Brachyolmia Type 3:

33
Bone

Animal Models for Brachyolmia Type 3 or affiliated genes

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Publications for Brachyolmia Type 3

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Variations for Brachyolmia Type 3

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Brachyolmia Type 3:

64
id Symbol AA change Variation ID SNP ID
1TRPV4p.Arg616GlnVAR_054805
2TRPV4p.Val620IleVAR_054806

Clinvar genetic disease variations for Brachyolmia Type 3:

1
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 Type 3

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Sources:
2BioGPS, 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

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Compounds for genes affiliated with Brachyolmia Type 3

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GO Terms for genes affiliated with Brachyolmia Type 3

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Products for genes affiliated with Brachyolmia Type 3

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Brachyolmia Type 3

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet