MCID: BRC003
MIFTS: 25

Brachyolmia malady

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

Aliases & Classifications for Brachyolmia

Aliases & Descriptions for Brachyolmia:

Name: Brachyolmia 12 50 14 69
Brachyrachia 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0050690

Summaries for Brachyolmia

Disease Ontology : 12 An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature.

MalaCards based summary : Brachyolmia, also known as brachyrachia, is related to brachyolmia type 2 and brachyolmia type 3, and has symptoms including mild short stature and short thorax. An important gene associated with Brachyolmia is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4). Affiliated tissues include bone, and related phenotypes are craniofacial and skeleton

Related Diseases for Brachyolmia

Diseases in the Brachyolmia family:

Brachyolmia Type 3 Brachyolmia Type 2
Brachyolmia 4

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

(show all 28)
id Related Disease Score Top Affiliating Genes
1 brachyolmia type 2 12.2
2 brachyolmia type 3 12.2
3 brachyolmia 4 with mild epiphyseal and metaphyseal changes 12.2
4 brachyolmia 4 11.7
5 dental anomalies and short stature 11.5
6 sed, maroteaux type 10.9
7 cardiovascular disease risk factor ) 10.2 PAPSS2 SEMA3A
8 spondyloepiphyseal dysplasia with congenital joint dislocations 10.2 PAPSS2 SEMA3A
9 stickler sydrome, type i, nonsyndromic ocular 10.2 COL2A1 TRPV4
10 toenail dystrophy, isolated 10.2 COL2A1 TRPV4
11 spondyloperipheral dysplasia 10.2 COL2A1 SEMA3A
12 brown-vialetto-van laere syndrome 2 10.2 ENAM WDR72
13 slti salem syndrome 10.1 COL2A1 PAPSS2 TRPV4
14 sclerosing perineurioma 10.1 ENAM LTBP3
15 sp7-related osteogenesis imperfecta 10.1 COL2A1 TRPV4
16 epiphyseal dysplasia, multiple, with myopia and deafness 10.1 COL2A1 SEMA3A TRPV4
17 albright's hereditary osteodystrophy 10.1 COL2A1 SEMA3A TRPV4
18 lissencephaly, x-linked 2 10.0 COL2A1 GALNS TRAPPC2B
19 combined oxidative phosphorylation deficiency 2 10.0 COL2A1 GALNS
20 smed strudwick type 10.0 COL2A1 GALNS SEMA3A TRPV4
21 amelogenesis imperfecta 9.9
22 skeletal dysplasias 9.9
23 skeletal dysplasia 9.9
24 neuropathy, distal hereditary motor, type iia 9.9 COL2A1 GALNS SEMA3A TRAPPC2B
25 spinal stenosis 9.8
26 brachydactyly 9.8
27 metatropic dysplasia 9.0 COL2A1 ENAM FST GALNS GPX4 MGAM
28 fetal alcohol spectrum disorder 8.2 COL2A1 ENAM FST GALNS GPX4 LTBP3

Graphical network of the top 20 diseases related to Brachyolmia:



Diseases related to Brachyolmia

Symptoms & Phenotypes for Brachyolmia

Human phenotypes related to Brachyolmia:

32
id Description HPO Frequency HPO Source Accession
1 mild short stature 32 HP:0003502
2 short thorax 32 HP:0010306

MGI Mouse Phenotypes related to Brachyolmia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.43 COL2A1 ENAM FST LTBP3 PAPSS2 WDR72
2 skeleton MP:0005390 9.23 COL2A1 ENAM FST GALNS LTBP3 PAPSS2

Drugs & Therapeutics for Brachyolmia

Search Clinical Trials , NIH Clinical Center for Brachyolmia

Genetic Tests for Brachyolmia

Anatomical Context for Brachyolmia

MalaCards organs/tissues related to Brachyolmia:

39
Bone

Publications for Brachyolmia

Articles related to Brachyolmia:

(show all 23)
id Title Authors Year
1
Autosomal recessive brachyolmia: early radiological findings. ( 27544198 )
2016
2
Whole exome sequencing identified a novel COL2A1 mutation that causes mild Spondylo-epiphyseal dysplasia mimicking autosomal dominant brachyolmia. ( 26586363 )
2016
3
Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta. ( 25669657 )
2015
4
Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course. ( 24677493 )
2014
5
Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations. ( 23824674 )
2013
6
PAPSS2 mutations cause autosomal recessive brachyolmia. ( 22791835 )
2012
7
Wild-type and brachyolmia-causing mutant TRPV4 channels respond directly to stretch force. ( 20605796 )
2010
8
Brachyolmia with amelogenesis imperfecta: further evidence of a distinct entity. ( 19213025 )
2009
9
Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. ( 18587396 )
2008
10
Short trunk stature, brachydactyly, and platyspondyly in three sibs: a new form of brachyolmia or a new skeletal dysplasia? ( 12784309 )
2003
11
Brachyolmia and spinal stenosis. ( 12833413 )
2003
12
Two sibs with brachyolmia type Hobaek: five year follow-up through puberty. ( 12476457 )
2003
13
Familial brachyolmia. ( 10968486 )
2000
14
A case of brachyolmia. ( 9339123 )
1997
15
Toledo type brachyolmia. ( 8660094 )
1996
16
Brachyolmia: a report of two cases. ( 7883917 )
1995
17
Brachyolmia: an autosomal dominant form. ( 8209891 )
1994
18
Toledo type brachyolmia. ( 7826119 )
1994
19
Spondylar dysplasia (SD)/brachyolmia (BO), type I: search for qualitative anomalies in glycosaminoglycans (GAG) ( 1424247 )
1992
20
Brachyolmia: a skeletal dysplasia with an altered mucopolysaccharide excretion. ( 1836753 )
1991
21
Brachyolmia: radiographic and genetic evidence of heterogeneity. ( 2669482 )
1989
22
Brachyolmia, recessive type (Hobaek): a clinical, radiographic, and histochemical study. ( 6650565 )
1983
23
Excretion of chondroitin sulfate C with low sulfate content by patients with generalized platyspondyly (brachyolmia). ( 4268486 )
1973

Variations for Brachyolmia

ClinVar genetic disease variations for Brachyolmia:

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

Search GEO for disease gene expression data for Brachyolmia.

Pathways for Brachyolmia

GO Terms for Brachyolmia

Cellular components related to Brachyolmia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.17 COL2A1 ENAM FST GALNS LTBP3 PLA2G2C

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

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

Sources for Brachyolmia

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....