MCID: BRC045
MIFTS: 28

Brachyolmia Type 3 malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Brachyolmia Type 3

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Aliases & Descriptions for Brachyolmia Type 3:

Name: Brachyolmia Type 3 50 46 23 52 12
Brachyrachia 46 23 68 25
Autosomal Dominant Brachyolmia 46 52 68
Brachyolmia, Autosomal Dominant 23
 
Brachyolmia Autosomal Dominant 46
Brachyolmia 3 68
Bcym3 68

Characteristics:

Orphanet epidemiological data:

52
brachyolmia type 3:
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: normal life expectancy

HPO:

62
brachyolmia type 3:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 113500
Orphanet52 ORPHA93304
ICD10 via Orphanet29 Q76.3
MedGen35 C0432227
MeSH37 D010009

Summaries for Brachyolmia Type 3

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UniProtKB/Swiss-Prot:68 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 sulfite oxidase deficiency, 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:50 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:

 52
  • platyspondyly
  • abnormality of the metaphyses
  • kyphoscoliosis
  • short stature
  • increased vertebral height
  • short thorax

HPO human phenotypes related to Brachyolmia Type 3:

(show all 18)
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 short neck HP:0000470
8 hypermetropia HP:0000540
9 platyspondyly HP:0000926
10 barrel-shaped chest HP:0001552
11 spinal cord compression HP:0002176
12 scoliosis HP:0002650
13 kyphosis HP:0002808
14 proximal femoral metaphyseal irregularity HP:0003411
15 childhood-onset short-trunk short stature HP:0008922
16 radial deviation of finger HP:0009466
17 clinodactyly HP:0030084
18 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 Brachyrachia (short Spine Dysplasia)25
2 Brachyolmia Type 323 TRPV4

Anatomical Context for Brachyolmia Type 3

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MalaCards organs/tissues related to Brachyolmia Type 3:

34
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:

68
id Symbol AA change Variation ID SNP ID
1TRPV4p.Arg616GlnVAR_054805rs121912632
2TRPV4p.Val620IleVAR_054806rs121912633

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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet