MCID: BRC045
MIFTS: 28

Brachyolmia Type 3 malady

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

Aliases & Classifications for Brachyolmia Type 3

About this section

Aliases & Descriptions for Brachyolmia Type 3:

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

Characteristics:

Orphanet epidemiological data:

51
brachyolmia type 3:
Inheritance: Autosomal dominant

HPO:

61
brachyolmia type 3:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

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

Summaries for Brachyolmia Type 3

About this section
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 hemiplegia, and has symptoms including short thorax, short stature 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:49 113500

Related Diseases for Brachyolmia Type 3

About this section

Graphical network of diseases related to Brachyolmia Type 3:



Diseases related to brachyolmia type 3

Symptoms for Brachyolmia Type 3

About this section

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

Drugs & Therapeutics for Brachyolmia Type 3

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Brachyolmia Type 3

Genetic Tests for Brachyolmia Type 3

About this section

Genetic tests related to Brachyolmia Type 3:

id Genetic test Affiliating Genes
1 Brachyolmia Type 322 TRPV4

Anatomical Context for Brachyolmia Type 3

About this section

MalaCards organs/tissues related to Brachyolmia Type 3:

33
Bone, Spinal cord

Animal Models for Brachyolmia Type 3 or affiliated genes

About this section

Publications for Brachyolmia Type 3

About this section

Variations for Brachyolmia Type 3

About this section

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

About this section
Search GEO for disease gene expression data for Brachyolmia Type 3.

Pathways for genes affiliated with Brachyolmia Type 3

About this section

GO Terms for genes affiliated with Brachyolmia Type 3

About this section

Sources for Brachyolmia Type 3

About this section
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