MCID: BRC003
MIFTS: 30

Brachyolmia

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

Aliases & Classifications for Brachyolmia

MalaCards integrated aliases for Brachyolmia:

Name: Brachyolmia 12 49 14 69
Brachyrachia 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0050690
SNOMED-CT via HPO 65 249670005
UMLS 69 C0432228

Summaries for Brachyolmia

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1293Disease definitionBrachyolmia is a rare, clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones.EpidemiologyThe prevalence of brachyolmia is not known, but the disorder is probably under-recognized. Fewer than 100 cases have been reported to date. Cases have been reported in various ethnic groups. However, most cases with the Hobaek/Toledo type reported so far were of Turkish origin.Clinical descriptionFour types of brachyolmia have been described: autosomal recessive brachyolmia, Hobaek/Toledo type, autosomal recessive brachyolmia-amelogenesis imperfecta syndrome, autosomal dominant brachyolmia, and autosomal recessive brachyolmia, Maroteaux type (see these terms). The age of onset is generally in childhood with short stature becoming more evident with age. The clinical manifestations are generally mild to moderate, with minor physical functional repercussions. Some patients report non-specific back pain. The disorder is not associated with intellectual disability. AR brachyolmia, Hobaek/Toledo type is characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of costal cartilage occur in rare cases. In AR brachyolmia-amelogenesis imperfecta syndrome, short-trunked short stature is associated with platyspondyly and enamel abnormalities. AD brachyolmia is a more severe form with significant short-trunked short stature, platyspondyly and kyphoscoliosis. Lastly, presumably autosomal recessive brachyolmia, Maroteaux type is a vague entity that has not been well characterized but may involve short trunk/short stature, generalized platyspondyly and rounding vertebral bodies.EtiologyMutations in the PAPSS2 gene (10q24) have been found in patients with AR brachyolmia, Hobaek/Toledo type, and in the TRPV4 gene (12q24.1) in patients with AD brachyolmia. Precise pathogenesis is not well understood.Diagnostic methodsClinical and radiological findings are used to diagnose brachyolmia. Molecular genetic testing can also be used to confirm the diagnosis.Differential diagnosisThe differential diagnosis includes other genetic skeletal dysplasia syndromes, particularly mild spondyloepiphyseal dysplasia, including mild type 2 collagenopathy and mild Morquio disease (see this term).Antenatal diagnosisPrenatal diagnosis is available on molecular grounds, when a mutation (or mutations) was ascertained in a familial case.Genetic counselingBrachyolmia follows either an autosomal recessive or rarely an autosomal dominant pattern of inheritance. Genetic counseling based on the mode of inheritance should be provided to affected families.Management and treatmentNo specific treatment is currently available for this disease.PrognosisThe prognosis for patients with brachyolmia is generally very good.Visit the Orphanet disease page for more resources. Last updated: 3/19/2015

MalaCards based summary : Brachyolmia, also known as brachyrachia, is related to skeletal dysplasias 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 testes, and related phenotypes are craniofacial and skeleton

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

Related Diseases for Brachyolmia

Graphical network of the top 20 diseases related to Brachyolmia:



Diseases related to Brachyolmia

Symptoms & Phenotypes for Brachyolmia

Human phenotypes related to Brachyolmia:

31
# Description HPO Frequency HPO Source Accession
1 mild short stature 31 hallmark (90%) HP:0003502
2 short thorax 31 hallmark (90%) HP:0010306

MGI Mouse Phenotypes related to Brachyolmia:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.43 COL2A1 ENAM FST LTBP3 PAPSS2 WDR72
2 skeleton MP:0005390 9.17 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:

38
Bone, Testes

Publications for Brachyolmia

Articles related to Brachyolmia:

(show all 24)
# 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 recessive brachyolmia: early radiological findings. ( 27544198 )
2016
4
Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta. ( 25669657 )
2015
5
Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course. ( 24677493 )
2014
6
Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations. ( 23824674 )
2013
7
PAPSS2 mutations cause autosomal recessive brachyolmia. ( 22791835 )
2012
8
Wild-type and brachyolmia-causing mutant TRPV4 channels respond directly to stretch force. ( 20605796 )
2010
9
Brachyolmia with amelogenesis imperfecta: further evidence of a distinct entity. ( 19213025 )
2009
10
Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. ( 18587396 )
2008
11
Short trunk stature, brachydactyly, and platyspondyly in three sibs: a new form of brachyolmia or a new skeletal dysplasia? ( 12784309 )
2003
12
Brachyolmia and spinal stenosis. ( 12833413 )
2003
13
Two sibs with brachyolmia type Hobaek: five year follow-up through puberty. ( 12476457 )
2003
14
Familial brachyolmia. ( 10968486 )
2000
15
A case of brachyolmia. ( 9339123 )
1997
16
Toledo type brachyolmia. ( 8660094 )
1996
17
Brachyolmia: a report of two cases. ( 7883917 )
1995
18
Toledo type brachyolmia. ( 7826119 )
1994
19
Brachyolmia: an autosomal dominant form. ( 8209891 )
1994
20
Spondylar dysplasia (SD)/brachyolmia (BO), type I: search for qualitative anomalies in glycosaminoglycans (GAG) ( 1424247 )
1992
21
Brachyolmia: a skeletal dysplasia with an altered mucopolysaccharide excretion. ( 1836753 )
1991
22
Brachyolmia: radiographic and genetic evidence of heterogeneity. ( 2669482 )
1989
23
Brachyolmia, recessive type (Hobaek): a clinical, radiographic, and histochemical study. ( 6650565 )
1983
24
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
# 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

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

# Name GO ID Score Top Affiliating Genes
1 bone development GO:0060348 9.16 COL2A1 PAPSS2
2 biomineral tissue development GO:0031214 8.96 ENAM WDR72
3 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
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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