MCID: BRC045
MIFTS: 24

Brachyolmia Type 3 malady

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

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 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.

Description from OMIM:46 113500

Aliases & Classifications for Brachyolmia Type 3

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Sources:
42NIH Rare Diseases, 21GeneTests, 46OMIM, 48Orphanet, 27ICD10 via Orphanet
See all sources

Brachyolmia Type 3, Aliases & Descriptions:

Name: Brachyolmia Type 3 42 21 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 Orphanet27 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 321 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:

63
id Symbol AA change Variation ID SNP ID
1TRPV4p.Arg616GlnVAR_054805
2TRPV4p.Val620IleVAR_054806

Clinvar genetic disease variations for Brachyolmia Type 3:

7
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
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Brachyolmia Type 3

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet