BCYM3
MCID: BRC045
MIFTS: 29

Brachyolmia Type 3 (BCYM3)

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

Aliases & Classifications for Brachyolmia Type 3

MalaCards integrated aliases for Brachyolmia Type 3:

Name: Brachyolmia Type 3 56 52 58 13
Brachyrachia 56 52 73 29 6
Autosomal Dominant Brachyolmia 52 58 73
Bcym3 56 73
Brachyolmia, Autosomal Dominant 56
Brachyolmia Autosomal Dominant 52
Brachyolmia, Type 3 39
Brachyolmia 3 73

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant brachyolmia
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
brachyolmia type 3:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 113500
MeSH 43 D010009
ICD10 via Orphanet 33 Q76.3
UMLS via Orphanet 72 C0432227
Orphanet 58 ORPHA93304
MedGen 41 C0432227

Summaries for Brachyolmia Type 3

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93304 Definition A relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature , platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood. Epidemiology The precise prevalence of this form of brachyolmia is not known. About 30 cases have been reported. Clinical description Patients with Brachyolmia type 3 generally have a normal birth weight and length. Affected individuals present with moderately short trunk/short stature and mildly short limbs in childhood. Kyphoscoliosis is common and sometimes severe. Adult patients develop degenerative joint disease in the spine, large joints and small joints of the hands and feet, which may cause significant musculoskeletal morbidity, such as chronic pain in the extremities and spine, and paresthesia. Final adult height is reported to be 155-168 cm (males) and 136-150 cm (females). The radiographic features include severe platyspondyly particularly in the cervical spine, elongated vertebral bodies (overfaced pedicles), broad ilia, and mild metaphyseal irregularity in the proximal femora. Carpal ossification may be mildly delayed, and mild brachydactyly may exist. Etiology Heterozygous mutations in the TRPV4 gene (12q24.11) are responsible for autosomal dominant brachyolmia. TRPV4 mutations are associated with other skeletal dysplasias, including lethal and nonlethal metatropic dysplasia, spondyloepiphyseal dysplasia Maroteaux type, and spondylometaphyseal dysplasia Kozlowski type (see these terms). Autosomal dominant brachyolmia falls into the mildest end of the TRPV4 -associated skeletal dysplasia group. TRPV4 encodes a Ca-permeable, non-selective cation channel that participates in the regulation of osmotic sensitivity and mechanosensitivity. It remains to be explained how dysregulation of the cation channel causes the skeletal abnormalities. Genetic counseling Genetic counseling should be provided to affected families, in consideration of the autosomal dominant mode of inheritance. Visit the Orphanet disease page for more resources.

MalaCards based summary : Brachyolmia Type 3, also known as brachyrachia, is related to brachyolmia type 1, hobaek type and brachyolmia. 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 short stature and platyspondyly

OMIM : 56 Type 3 brachyolmia is an autosomal dominant skeletal dysplasia affecting the spine characterized by severe kyphoscoliosis and flattened, irregular cervical vertebrae (summary by Rock et al., 2008). For a discussion of heterogeneity of brachyolmia, see 271530. (113500)

UniProtKB/Swiss-Prot : 73 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.

Related Diseases for Brachyolmia Type 3

Diseases in the Brachyolmia family:

Brachyolmia Type 3 Brachyolmia Type 2
Autosomal Recessive Brachyolmia

Diseases related to Brachyolmia Type 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 brachyolmia type 1, hobaek type 11.2
2 brachyolmia 11.2
3 scoliosis 10.3
4 skeletal dysplasias 10.3
5 trpv4-associated disorders 10.2
6 chronic pain 10.2

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



Diseases related to Brachyolmia Type 3

Symptoms & Phenotypes for Brachyolmia Type 3

Human phenotypes related to Brachyolmia Type 3:

58 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
2 platyspondyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000926
3 short thorax 58 31 hallmark (90%) Very frequent (99-80%) HP:0010306
4 kyphoscoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002751
5 increased vertebral height 58 31 hallmark (90%) Very frequent (99-80%) HP:0004570
6 abnormality of the metaphysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000944
7 short neck 31 HP:0000470
8 clinodactyly 31 HP:0030084
9 scoliosis 31 HP:0002650
10 kyphosis 31 HP:0002808
11 spinal cord compression 31 HP:0002176
12 proximal femoral metaphyseal irregularity 31 HP:0003411
13 barrel-shaped chest 31 HP:0001552
14 radial deviation of finger 31 HP:0009466
15 hypermetropia 31 HP:0000540
16 short femoral neck 31 HP:0100864
17 childhood-onset short-trunk short stature 31 HP:0008922

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Neck:
short neck

Skeletal Spine:
scoliosis
kyphosis
gibbus
marked platyspondyly

Chest External Features:
barrel-shaped chest

Growth Height:
normal birth length
short stature, disproportionate (short trunk), identifiable in childhood

Skeletal Hands:
clinodactyly

Neurologic Central Nervous System:
spinal cord compression
normal intelligence

Skeletal Pelvis:
short femoral neck
irregular proximal femoral metaphyses

Head And Neck Eyes:
hyperopia

Clinical features from OMIM:

113500

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:

# Genetic test Affiliating Genes
1 Brachyrachia (short Spine Dysplasia) 29 TRPV4

Anatomical Context for Brachyolmia Type 3

MalaCards organs/tissues related to Brachyolmia Type 3:

40
Bone, Spinal Cord

Publications for Brachyolmia Type 3

Articles related to Brachyolmia Type 3:

# Title Authors PMID Year
1
Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. 56 6
18587396 2008
2
TRPV4-Associated Disorders 6
24830047 2014
3
Brachyolmia: an autosomal dominant form. 56
8209891 1994
4
Brachyolmia: radiographic and genetic evidence of heterogeneity. 56
2669482 1989
5
Osteochondrodystrophy (Morquio's disease) in three generations. 56
14418038 1959
6
Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course. 61
24677493 2014
7
Human skeletal dysplasia caused by a constitutive activated transient receptor potential vanilloid 4 (TRPV4) cation channel mutation. 61
23143559 2012

Variations for Brachyolmia Type 3

ClinVar genetic disease variations for Brachyolmia Type 3:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TRPV4 NM_021625.4(TRPV4):c.1858G>A (p.Val620Ile)SNV Pathogenic 4993 rs121912633 12:110230201-110230201 12:109792396-109792396
2 TRPV4 NM_021625.4(TRPV4):c.1847G>A (p.Arg616Gln)SNV Pathogenic 4992 rs121912632 12:110230212-110230212 12:109792407-109792407
3 TRPV4 NM_021625.4(TRPV4):c.806G>A (p.Arg269His)SNV Pathogenic/Likely pathogenic 5000 rs267607144 12:110238470-110238470 12:109800665-109800665
4 TRPV4 NM_021625.4(TRPV4):c.569C>T (p.Thr190Met)SNV Uncertain significance 424209 rs1031096826 12:110240939-110240939 12:109803134-109803134
5 TRPV4 NM_021625.4(TRPV4):c.184G>A (p.Asp62Asn)SNV Uncertain significance 575960 rs770149544 12:110252418-110252418 12:109814613-109814613
6 TRPV4 NM_021625.4(TRPV4):c.1376T>G (p.Leu459Arg)SNV Uncertain significance 521109 rs201132615 12:110232249-110232249 12:109794444-109794444
7 TRPV4 NM_021625.4(TRPV4):c.2425G>A (p.Gly809Ser)SNV Uncertain significance 448709 rs375851168 12:110222154-110222154 12:109784349-109784349
8 TRPV4 NM_021625.4(TRPV4):c.1976C>T (p.Ser659Leu)SNV Uncertain significance 409288 rs779715512 12:110226437-110226437 12:109788632-109788632

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

73
# Symbol AA change Variation ID SNP ID
1 TRPV4 p.Arg616Gln VAR_054805 rs121912632
2 TRPV4 p.Val620Ile VAR_054806 rs121912633

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

Sources for Brachyolmia Type 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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