MCID: BRC045
MIFTS: 22

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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MalaCards based summary: Brachyolmia Type 3, also known as brachyolmia autosomal dominant, is related to brachyolmia and muscular atrophy, and has symptoms including short rib cage/thorax, kyphosis and scoliosis. 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 113500

Aliases & Classifications for Brachyolmia Type 3

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Sources:
42NIH Rare Diseases, 20GeneTests, 46OMIM, 48Orphanet, 26ICD10 via Orphanet
See all sources

Brachyolmia Type 3, Aliases & Descriptions:

Name: Brachyolmia Type 3 42 20 46 48
Brachyolmia Autosomal Dominant 42
 
Autosomal Dominant Brachyolmia 48
Brachyrachia 42


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
brachyolmia type 3:
Inheritance: Autosomal dominant


External Ids:

OMIM46 113500
ICD10 via Orphanet26 Q76.3

Related Diseases for Brachyolmia Type 3

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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
1brachyolmia10.2
2muscular atrophy10.1TRPV4
3parastremmatic dwarfism10.1TRPV4
4metatropic dysplasia10.0TRPV4

Symptoms for Brachyolmia Type 3

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Symptoms by clinical synopsis from OMIM:

113500

Clinical features from OMIM:

113500

Symptoms:

48 (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

Anatomical Context for Brachyolmia Type 3

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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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Variations for Brachyolmia Type 3

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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:

6
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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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet