MCID: BRC045
MIFTS: 30

Brachyolmia Type 3 malady

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

Aliases & Classifications for Brachyolmia Type 3

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 51Orphanet, 65UMLS, 24GTR, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Brachyolmia Type 3:

Name: Brachyolmia Type 3 49 11 45 22 51
Brachyrachia 45 22 24 67
Brachyolmia Autosomal Dominant 45 22
Autosomal Dominant Brachyolmia 51 67
 
Brachyolmia 3 67
Brachyolmia 65
Bcym3 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
brachyolmia type 3:
Inheritance: Autosomal dominant


External Ids:

OMIM49 113500
Orphanet51 93304
ICD10 via Orphanet28 Q76.3
MedGen34 C0432227
MeSH36 D010009

Summaries for Brachyolmia Type 3

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UniProtKB/Swiss-Prot:67 Brachyolmia 3: A form of brachyolmia, a clinically and genetically heterogeneous skeletal dysplasia primarily affecting the spine and characterized by a short trunk, short stature, and platyspondyly. BCYM3 is an autosomal dominant form with severe scoliosis with or without kyphosis, and flattened irregular cervical vertebrae.

MalaCards based summary: Brachyolmia Type 3, also known as brachyrachia, is related to brachyolmia and spinal muscular atrophy, distal, congenital nonprogressive, 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 spinal cord and bone.

Description from OMIM:49 113500

Related Diseases for Brachyolmia Type 3

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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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Symptoms by clinical synopsis from OMIM:

113500

Clinical features from OMIM:

113500

Symptoms:

 51 (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 proximal femoral metaphyseal irregularity 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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Interventional clinical trials:

Search ClinicalTrials, 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 322 TRPV4
2 Brachyrachia (short Spine Dysplasia)24

Anatomical Context for Brachyolmia Type 3

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MalaCards organs/tissues related to Brachyolmia Type 3:

33
Spinal cord, 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:

67
id Symbol AA change Variation ID SNP ID
1TRPV4p.Arg616GlnVAR_054805
2TRPV4p.Val620IleVAR_054806

Clinvar genetic disease variations for Brachyolmia Type 3:

5
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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GO Terms for genes affiliated with Brachyolmia Type 3

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Sources for Brachyolmia Type 3

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet