BCYM2
MCID: BRC053
MIFTS: 25

Brachyolmia Type 2 (BCYM2)

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

Aliases & Classifications for Brachyolmia Type 2

MalaCards integrated aliases for Brachyolmia Type 2:

Name: Brachyolmia Type 2 57 58 6
Brachyolmia, Maroteaux Type 57 58
Spondyloepiphyseal Dysplasia, Maroteaux Type 71
Brachyolmia - Maroteaux Type 29
Bcym2 57

Characteristics:

Orphanet epidemiological data:

58
brachyolmia, maroteaux type
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive


HPO:

31
brachyolmia type 2:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 613678
ICD10 via Orphanet 33 Q76.3
UMLS via Orphanet 72 C3159322
Orphanet 58 ORPHA93302
MedGen 41 C3159322
UMLS 71 C3159322

Summaries for Brachyolmia Type 2

OMIM® : 57 The term 'brachyolmia' was coined to designate a bone dysplasia characterized clinically by short trunk dwarfism and radiographically by generalized platyspondyly without significant long bone abnormalities. The Maroteaux type of brachyolmia is an autosomal recessive form in which there is rounding of the anterior and posterior vertebral borders, with less elongation on lateral view and less lateral extension on anteroposterior view than is seen in the Hobaek type of brachyolmia (271530). Maroteaux brachyolmia may also be associated with precocious calcification of the falx cerebri, and minor facial anomalies (summary by Shohat et al., 1989). For a discussion of genetic heterogeneity of brachyolmia, see 271530. (613678) (Updated 05-Mar-2021)

MalaCards based summary : Brachyolmia Type 2, also known as brachyolmia, maroteaux type, is related to brachyolmia and spondyloepiphyseal dysplasia, maroteaux type. An important gene associated with Brachyolmia Type 2 is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4). Related phenotypes are scoliosis and short stature

Related Diseases for Brachyolmia Type 2

Diseases in the Brachyolmia family:

Brachyolmia Type 3 Brachyolmia Type 2
Autosomal Recessive Brachyolmia

Diseases related to Brachyolmia Type 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 brachyolmia 11.4
2 spondyloepiphyseal dysplasia, maroteaux type 11.4
3 brachyolmia type 1, hobaek type 11.0

Symptoms & Phenotypes for Brachyolmia Type 2

Human phenotypes related to Brachyolmia Type 2:

58 31 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002650
2 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
3 short thorax 58 31 hallmark (90%) Very frequent (99-80%) HP:0010306
4 platyspondyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000926
5 wide intermamillary distance 58 31 frequent (33%) Frequent (79-30%) HP:0006610
6 pectus excavatum 58 31 frequent (33%) Frequent (79-30%) HP:0000767
7 abnormality of the falx cerebri 58 31 occasional (7.5%) Occasional (29-5%) HP:0010653
8 abnormal form of the vertebral bodies 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Growth Height:
short stature

Neurologic Central Nervous System:
falx cerebri, precocious calcification of

Skeletal Spine:
platyspondyly
vertebral borders rounded anteriorly and posteriorly
vertebral borders less elongated on lateral view than in hobaek type
vertebral borders show less lateral extension on anteroposterior view than in hobaek type

Clinical features from OMIM®:

613678 (Updated 05-Mar-2021)

Drugs & Therapeutics for Brachyolmia Type 2

Search Clinical Trials , NIH Clinical Center for Brachyolmia Type 2

Genetic Tests for Brachyolmia Type 2

Genetic tests related to Brachyolmia Type 2:

# Genetic test Affiliating Genes
1 Brachyolmia - Maroteaux Type 29

Anatomical Context for Brachyolmia Type 2

Publications for Brachyolmia Type 2

Articles related to Brachyolmia Type 2:

# Title Authors PMID Year
1
Spondyloepiphyseal dysplasia Maroteaux type: report of three patients from two families and exclusion of type II collagen defects. 61 6
12884428 2003
2
Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family. 6
20577006 2010
3
Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations. 6
20503319 2010
4
Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia. 6
20425821 2010
5
Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. 6
19232556 2009
6
Spondyloepimetaphyseal dysplasia of Maroteaux (pseudo-Morquio type II syndrome): report of a new patient and review of the literature. 6
14755468 2004
7
Brachyolmia: radiographic and genetic evidence of heterogeneity. 57
2669482 1989
8
Autosomal Dominant TRPV4 Disorders 61
24830047 2014
9
TRPV4-associated skeletal dysplasias. 61
22791502 2012

Variations for Brachyolmia Type 2

ClinVar genetic disease variations for Brachyolmia Type 2:

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TRPV4 TRPV4, 17-BP DEL, NT2396 Deletion Pathogenic 18436
2 TRPV4 NM_021625.4(TRPV4):c.2396C>T (p.Pro799Leu) SNV Pathogenic 4998 rs121912637 12:110222183-110222183 12:109784378-109784378
3 TRPV4 NM_021625.4(TRPV4):c.2389G>A (p.Glu797Lys) SNV Pathogenic 18435 rs267607149 12:110222190-110222190 12:109784385-109784385
4 TRPV4 NM_021625.4(TRPV4):c.547G>A (p.Glu183Lys) SNV Pathogenic 18437 rs387906324 12:110246113-110246113 12:109808308-109808308
5 TRPV4 NM_021625.4(TRPV4):c.1805A>G (p.Tyr602Cys) SNV Pathogenic 30468 rs267607150 12:110230476-110230476 12:109792671-109792671
6 TRPV4 NM_021625.4(TRPV4):c.806G>A (p.Arg269His) SNV Pathogenic 5000 rs267607144 12:110238470-110238470 12:109800665-109800665
7 TRPV4 NM_021625.4(TRPV4):c.1976C>T (p.Ser659Leu) SNV Uncertain significance 409288 rs779715512 12:110226437-110226437 12:109788632-109788632
8 TRPV4 NM_021625.4(TRPV4):c.184G>A (p.Asp62Asn) SNV Uncertain significance 575960 rs770149544 12:110252418-110252418 12:109814613-109814613
9 TRPV4 NM_021625.4(TRPV4):c.2425G>A (p.Gly809Ser) SNV Uncertain significance 448709 rs375851168 12:110222154-110222154 12:109784349-109784349
10 TRPV4 NM_021625.4(TRPV4):c.1376T>G (p.Leu459Arg) SNV Uncertain significance 521109 rs201132615 12:110232249-110232249 12:109794444-109794444
11 TRPV4 NM_021625.4(TRPV4):c.569C>T (p.Thr190Met) SNV Uncertain significance 424209 rs1031096826 12:110240939-110240939 12:109803134-109803134

Expression for Brachyolmia Type 2

Search GEO for disease gene expression data for Brachyolmia Type 2.

Pathways for Brachyolmia Type 2

GO Terms for Brachyolmia Type 2

Sources for Brachyolmia Type 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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