MCID: BRC045
MIFTS: 31

Brachyolmia Type 3 malady

Bone diseases, Fetal diseases categories

Summaries for Brachyolmia Type 3

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Sources:
46OMIM, 32MalaCards
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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:46 271530,613678,271630,113500,601216

Aliases & Classifications for Brachyolmia Type 3

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Sources:
48Orphanet, 46OMIM, 60UMLS, 42NIH Rare Diseases, 20GeneTests, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 42 20 46 48
brachyolmia 48 46 60
brachyolmia autosomal dominant 42
autosomal dominant brachyolmia 48
brachyrachia 42


External Ids:

MESH via Orphanet35 C537098
ICD10 via Orphanet26 Q76.3
SNOMED-CT via Orphanet57 254088006
UMLS via Orphanet61 C0432228

Related Diseases for Brachyolmia Type 3

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17GeneCards, 18GeneDecks
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Diseases in the Brachyolmia Type 3 family:

Brachyolmia

Diseases related to Brachyolmia Type 3 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1brachyolmia10.7
2spondyloepiphyseal dysplasia maroteaux type10.4
3brachyolmia type 1 hobaek type10.4
4spondyloepiphyseal dysplasia tarda toledo type10.3
5brachyolmia 4 with mild epiphyseal and metaphyseal changes10.3
6brachyolmia-amelogenesis imperfecta syndrome10.2
7muscular atrophy10.0TRPV4
8brachydactyly10.0
9amelogenesis imperfecta10.0
10spinal stenosis10.0

Graphical network of diseases related to Brachyolmia Type 3:



Diseases related to brachyolmia type 3

Clinical Features for Brachyolmia Type 3

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

271530,613678,271630,113500,601216

Clinical synopsis from OMIM:

113500

Symptoms:

48 (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:
5CenterWatch, 41NIH 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

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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

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Sources:
32MalaCards
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MalaCards organs/tissues related to Brachyolmia Type 3:

32
Bone

Animal Models for Brachyolmia Type 3 or affiliated genes

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Publications for Brachyolmia Type 3

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Genetic Variations for Brachyolmia Type 3

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Brachyolmia Type 3:

62
id Symbol AA change Variation ID SNP ID
1TRPV4p.Arg616GlnVAR_054805
2TRPV4p.Val620IleVAR_054806

Expression for genes affiliated with Brachyolmia Type 3

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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

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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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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet