BCYM3
MCID: BRC045
MIFTS: 34

Brachyolmia Type 3 (BCYM3) malady

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

Aliases & Classifications for Brachyolmia Type 3

Aliases & Descriptions for Brachyolmia Type 3:

Name: Brachyolmia Type 3 54 50 24 56 13
Brachyrachia 50 24 66 29
Autosomal Dominant Brachyolmia 50 56 66
Brachyolmia, Autosomal Dominant 24
Brachyolmia Autosomal Dominant 50
Brachyolmia 3 66
Bcym3 66

Characteristics:

Orphanet epidemiological data:

56
autosomal dominant brachyolmia
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: normal life expectancy;

HPO:

32
brachyolmia type 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 113500
Orphanet 56 ORPHA93304
ICD10 via Orphanet 34 Q76.3
MedGen 40 C0432227
MeSH 42 D010009

Summaries for Brachyolmia Type 3

UniProtKB/Swiss-Prot : 66 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 epiphyseal dysplasia, multiple, with myopia and deafness, and has symptoms including short stature, abnormality of the metaphyses and platyspondyly. 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, and related phenotypes are homeostasis/metabolism and craniofacial

Description from OMIM: 113500

Related Diseases for Brachyolmia Type 3

Graphical network of the top 20 diseases related to Brachyolmia Type 3:



Diseases related to Brachyolmia Type 3

Symptoms & Phenotypes for Brachyolmia Type 3

Symptoms by clinical synopsis from OMIM:

113500

Clinical features from OMIM:

113500

Human phenotypes related to Brachyolmia Type 3:

56 32 (show all 17)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 Very frequent (99-80%) HP:0004322
2 abnormality of the metaphyses 56 32 Occasional (29-5%) HP:0000944
3 platyspondyly 56 32 Very frequent (99-80%) HP:0000926
4 short thorax 56 32 Very frequent (99-80%) HP:0010306
5 kyphoscoliosis 56 32 Very frequent (99-80%) HP:0002751
6 increased vertebral height 56 32 Very frequent (99-80%) HP:0004570
7 short neck 32 HP:0000470
8 clinodactyly 32 HP:0030084
9 scoliosis 32 HP:0002650
10 kyphosis 32 HP:0002808
11 proximal femoral metaphyseal irregularity 32 HP:0003411
12 radial deviation of finger 32 HP:0009466
13 hypermetropia 32 HP:0000540
14 short femoral neck 32 HP:0100864
15 spinal cord compression 32 HP:0002176
16 barrel-shaped chest 32 HP:0001552
17 childhood-onset short-trunk short stature 32 HP:0008922

MGI Mouse Phenotypes related to Brachyolmia Type 3:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.56 COL2A1 ENAM FST GALNS GPX4 MGAM
2 craniofacial MP:0005382 9.55 COL2A1 ENAM FST PAPSS2 WDR72
3 skeleton MP:0005390 9.1 COL2A1 ENAM FST GALNS PAPSS2 WDR72

Drugs & Therapeutics for Brachyolmia Type 3

Search Clinical Trials , NIH Clinical Center for Brachyolmia Type 3

Genetic Tests for Brachyolmia Type 3

Genetic tests related to Brachyolmia Type 3:

id Genetic test Affiliating Genes
1 Brachyrachia (short Spine Dysplasia) 29
2 Brachyolmia Type 3 24 TRPV4

Anatomical Context for Brachyolmia Type 3

MalaCards organs/tissues related to Brachyolmia Type 3:

39
Bone, Spinal Cord

Publications for Brachyolmia Type 3

Variations for Brachyolmia Type 3

UniProtKB/Swiss-Prot genetic disease variations for Brachyolmia Type 3:

66
id Symbol AA change Variation ID SNP ID
1 TRPV4 p.Arg616Gln VAR_054805 rs121912632
2 TRPV4 p.Val620Ile VAR_054806 rs121912633

ClinVar genetic disease variations for Brachyolmia Type 3:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TRPV4 NM_021625.4(TRPV4): c.1847G> A (p.Arg616Gln) single nucleotide variant Pathogenic rs121912632 GRCh37 Chromosome 12, 110230212: 110230212
2 TRPV4 NM_021625.4(TRPV4): c.1858G> A (p.Val620Ile) single nucleotide variant Pathogenic rs121912633 GRCh37 Chromosome 12, 110230201: 110230201

Expression for Brachyolmia Type 3

Search GEO for disease gene expression data for Brachyolmia Type 3.

Pathways for Brachyolmia Type 3

GO Terms for Brachyolmia Type 3

Biological processes related to Brachyolmia Type 3 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 bone development GO:0060348 9.16 COL2A1 PAPSS2
2 biomineral tissue development GO:0031214 8.96 ENAM WDR72
3 cartilage development involved in endochondral bone morphogenesis GO:0060351 8.62 COL2A1 TRPV4

Sources for Brachyolmia Type 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....