MCID: BRC045
MIFTS: 27

Brachyolmia Type 3

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

Aliases & Classifications for Brachyolmia Type 3

MalaCards integrated aliases for Brachyolmia Type 3:

Name: Brachyolmia Type 3 53 49 55 13
Brachyrachia 53 49 71 28
Autosomal Dominant Brachyolmia 49 55 71
Bcym3 53 71
Brachyolmia, Autosomal Dominant 53
Brachyolmia Autosomal Dominant 49
Brachyolmia 3 71

Characteristics:

Orphanet epidemiological data:

55
autosomal dominant brachyolmia
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
brachyolmia type 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 113500
Orphanet 55 ORPHA93304
UMLS via Orphanet 70 C0432227
ICD10 via Orphanet 33 Q76.3
MedGen 39 C0432227
MeSH 41 D010009

Summaries for Brachyolmia Type 3

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 93304Disease definitionAutosomal dominant brachyolmia is a relatively severe form of brachyolmia (see this term), 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.EpidemiologyThe precise prevalence of this form of brachyolmia is not known. About 30 cases have been reported.Clinical descriptionPatients 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.EtiologyHeterozygousmutations 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 counselingGenetic counseling should be provided to affected families, in consideration of the autosomal dominant mode of inheritance.Visit the Orphanet disease page for more resources. Last updated: 3/19/2015

MalaCards based summary : Brachyolmia Type 3, also known as brachyrachia, is related to brachyolmia type 1, hobaek type and brachyolmia, and has symptoms including short stature, abnormality of the metaphysis 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.

UniProtKB/Swiss-Prot : 71 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.

Description from OMIM: 113500

Related Diseases for Brachyolmia Type 3

Diseases in the Brachyolmia family:

Brachyolmia Type 3 Brachyolmia Type 2

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 10.9
2 brachyolmia 10.9

Symptoms & Phenotypes for Brachyolmia Type 3

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Neck:
short neck

Skeletal Spine:
scoliosis
kyphosis
gibbus
marked platyspondyly

Skeletal Pelvis:
short femoral neck
irregular proximal femoral metaphyses

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

Skeletal Hands:
clinodactyly

Chest External Features:
barrel-shaped chest

Neurologic Central Nervous System:
spinal cord compression
normal intelligence

Head And Neck Eyes:
hyperopia


Clinical features from OMIM:

113500

Human phenotypes related to Brachyolmia Type 3:

55 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
2 abnormality of the metaphysis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000944
3 platyspondyly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000926
4 short thorax 55 31 hallmark (90%) Very frequent (99-80%) HP:0010306
5 kyphoscoliosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0002751
6 increased vertebral height 55 31 hallmark (90%) Very frequent (99-80%) HP:0004570
7 short neck 31 HP:0000470
8 clinodactyly 31 HP:0030084
9 scoliosis 31 HP:0002650
10 kyphosis 31 HP:0002808
11 proximal femoral metaphyseal irregularity 31 HP:0003411
12 barrel-shaped chest 31 HP:0001552
13 radial deviation of finger 31 HP:0009466
14 hypermetropia 31 HP:0000540
15 short femoral neck 31 HP:0100864
16 spinal cord compression 31 HP:0002176
17 childhood-onset short-trunk short stature 31 HP:0008922

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) 28 TRPV4

Anatomical Context for Brachyolmia Type 3

MalaCards organs/tissues related to Brachyolmia Type 3:

38
Bone, Spinal Cord

Publications for Brachyolmia Type 3

Articles related to Brachyolmia Type 3:

# Title Authors Year
1
Autosomal dominant brachyolmia: transient metaphyseal striations. ( 28601949 )
2017
2
Whole exome sequencing identified a novel COL2A1 mutation that causes mild Spondylo-epiphyseal dysplasia mimicking autosomal dominant brachyolmia. ( 26586363 )
2016
3
Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course. ( 24677493 )
2014
4
Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. ( 18587396 )
2008

Variations for Brachyolmia Type 3

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

71
# 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
# 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

Sources for Brachyolmia Type 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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