MCID: BRC045
MIFTS: 25

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 54 50 24 56 13
Brachyrachia 50 24 71 29
Autosomal Dominant Brachyolmia 50 56 71
Brachyolmia, Autosomal Dominant 24
Brachyolmia Autosomal Dominant 50
Brachyolmia 3 71
Bcym3 71

Characteristics:

Orphanet epidemiological data:

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

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
brachyolmia type 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 113500
Orphanet 56 ORPHA93304
UMLS via Orphanet 70 C0432227
ICD10 via Orphanet 34 Q76.3
MedGen 40 C0432227
MeSH 42 D010009

Summaries for Brachyolmia Type 3

NIH Rare Diseases : 50 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, and has symptoms including short stature, platyspondyly and kyphoscoliosis. 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
Brachyolmia 4

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

id Related Disease Score Top Affiliating Genes
1 brachyolmia 10.8

Symptoms & Phenotypes for Brachyolmia Type 3

Symptoms via clinical synopsis from OMIM:

54

Skeletal- Spine:
scoliosis
kyphosis
gibbus
marked platyspondyly

Skeletal- Hands:
clinodactyly

Head And Neck- Eyes:
hyperopia

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

Head And Neck- Neck:
short neck

Neurologic- Central Nervous System:
normal intelligence
spinal cord compression

Chest- External Features:
barrel-shaped chest

Skeletal- Pelvis:
short femoral neck
irregular proximal femoral metaphyses


Clinical features from OMIM:

113500

Human phenotypes related to Brachyolmia Type 3:

56 32 (show all 18)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 platyspondyly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000926
3 kyphoscoliosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0002751
4 short thorax 56 32 hallmark (90%) Very frequent (99-80%) HP:0010306
5 increased vertebral height 56 32 hallmark (90%) Very frequent (99-80%) HP:0004570
6 scoliosis 32 HP:0002650
7 kyphosis 32 HP:0002808
8 short neck 32 HP:0000470
9 clinodactyly 32 HP:0030084
10 spinal cord compression 32 HP:0002176
11 hypermetropia 32 HP:0000540
12 barrel-shaped chest 32 HP:0001552
13 short femoral neck 32 HP:0100864
14 abnormality of the metaphyses 56 Occasional (29-5%)
15 proximal femoral metaphyseal irregularity 32 HP:0003411
16 radial deviation of finger 32 HP:0009466
17 childhood-onset short-trunk short stature 32 HP:0008922
18 abnormality of the metaphysis 32 occasional (7.5%) HP:0000944

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:

71
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

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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