MCID: BRC045
MIFTS: 30

Brachyolmia Type 3 malady

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

Summaries for Brachyolmia Type 3

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48OMIM, 34MalaCards
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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:48 271530,613678,271630,113500,601216

Aliases & Classifications for Brachyolmia Type 3

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Sources:
50Orphanet, 48OMIM, 63UMLS, 44NIH Rare Diseases, 21GeneTests, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS 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):

50
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 44 21 48 50
brachyolmia 50 48 63
brachyolmia autosomal dominant 44
autosomal dominant brachyolmia 50
brachyrachia 44


External Ids:

MESH via Orphanet37 C537098
ICD10 via Orphanet27 Q76.3
SNOMED-CT via Orphanet60 254088006
UMLS via Orphanet64 C0432228

Related Diseases for Brachyolmia Type 3

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18GeneCards, 19GeneDecks
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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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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

113500

Clinical features from OMIM:

271530,613678,271630,113500,601216

Symptoms:

50 (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:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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

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21GeneTests
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Genetic tests related to Brachyolmia Type 3:

id Genetic test Affiliating Genes
1 Brachyolmia Type 321 TRPV4

Anatomical Context for Brachyolmia Type 3

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34MalaCards
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MalaCards organs/tissues related to Brachyolmia Type 3:

34
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:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Brachyolmia Type 3:

65
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, 16Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet