MCID: BRC045
MIFTS: 27

Brachyolmia Type 3 malady

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

Aliases & Classifications for Brachyolmia Type 3

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 47Orphanet, 60UMLS, 22GTR, 26ICD10 via Orphanet
See all sources

Brachyolmia Type 3, Aliases & Descriptions:

Name: Brachyolmia Type 3 45 10 41 20 47
Autosomal Dominant Brachyolmia 41 47
Brachyrachia 41 22
 
Brachyolmia 41 60
Brachyolmia Autosomal Dominant 41


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
brachyolmia type 3:
Inheritance: Autosomal dominant


External Ids:

OMIM45 113500
Orphanet47 93304
ICD10 via Orphanet26 Q76.3

Summaries for Brachyolmia Type 3

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MalaCards based summary: Brachyolmia Type 3, also known as autosomal dominant brachyolmia, is related to brachyolmia and brachyolmia type 1 hobaek type, and has symptoms including platyspondyly, scoliosis and kyphosis. An important gene associated with Brachyolmia Type 3 is TRPV4 (transient receptor potential cation channel, subfamily V, member 4). Affiliated tissues include bone and spinal cord.

Description from OMIM:45 113500

Related Diseases for Brachyolmia Type 3

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Diseases in the Brachyolmia family:

brachyolmia type 3

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

(show all 13)
idRelated DiseaseScoreTop Affiliating Genes
1brachyolmia10.7
2brachyolmia type 1 hobaek type10.5
3brachyolmia 4 with mild epiphyseal and metaphyseal changes10.4
4sed, maroteaux type10.4
5spondyloepiphyseal dysplasia tarda toledo type10.3
6amelogenesis imperfecta10.2
7skeletal dysplasias10.2
8verloes bourguignon syndrome10.2
9muscular atrophy10.1TRPV4
10parastremmatic dwarfism10.1TRPV4
11spinal stenosis10.0
12brachydactyly10.0
13metatropic dysplasia10.0TRPV4

Graphical network of diseases related to Brachyolmia Type 3:



Diseases related to brachyolmia type 3

Symptoms for Brachyolmia Type 3

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Symptoms by clinical synopsis from OMIM:

113500

Clinical features from OMIM:

113500

Symptoms:

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

HPO human phenotypes related to Brachyolmia Type 3:

(show all 19)
id Description Frequency HPO Source Accession
1 platyspondyly hallmark (90%) HP:0000926
2 scoliosis hallmark (90%) HP:0002650
3 kyphosis hallmark (90%) HP:0002808
4 short stature hallmark (90%) HP:0004322
5 short thorax hallmark (90%) HP:0010306
6 abnormality of the metaphyses occasional (7.5%) HP:0000944
7 autosomal dominant inheritance HP:0000006
8 short neck HP:0000470
9 hypermetropia HP:0000540
10 platyspondyly HP:0000926
11 barrel-shaped chest HP:0001552
12 spinal cord compression HP:0002176
13 scoliosis HP:0002650
14 kyphosis HP:0002808
15 irregular proximal femoral metaphyses HP:0003411
16 childhood-onset short-trunk short stature HP:0008922
17 radial deviation of finger HP:0009466
18 clinodactyly HP:0030084
19 short femoral neck HP:0100864

Drugs & Therapeutics for Brachyolmia Type 3

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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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Genetic tests related to Brachyolmia Type 3:

id Genetic test Affiliating Genes
1 Brachyolmia Type 320 TRPV4
2 Brachyrachia (short Spine Dysplasia)22

Anatomical Context for Brachyolmia Type 3

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MalaCards organs/tissues related to Brachyolmia Type 3:

31
Bone, Spinal cord

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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UniProtKB/Swiss-Prot genetic disease variations for Brachyolmia Type 3:

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

Clinvar genetic disease variations for Brachyolmia Type 3:

6
id Gene Variation 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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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
  • Proteins
  • Kits and Assays

Sources for Brachyolmia Type 3

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet