MCID: BRC003
MIFTS: 31

Brachyolmia

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

Aliases & Classifications for Brachyolmia

MalaCards integrated aliases for Brachyolmia:

Name: Brachyolmia 12 54 38 6 15 41 74
Brachyrachia 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0050690
KEGG 38 H00522
SNOMED-CT via HPO 70 249670005
UMLS 74 C0432228

Summaries for Brachyolmia

NIH Rare Diseases : 54 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.

MalaCards based summary : Brachyolmia, also known as brachyrachia, is related to brachyolmia type 3 and brachyolmia type 1, hobaek type. An important gene associated with Brachyolmia is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4), and among its related pathways/superpathways is Elastic fibre formation. Affiliated tissues include bone and testes, and related phenotypes are short thorax and mild short stature

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:

33
# Description HPO Frequency HPO Source Accession
1 short thorax 33 hallmark (90%) HP:0010306
2 mild short stature 33 hallmark (90%) HP:0003502

MGI Mouse Phenotypes related to Brachyolmia:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.65 COL2A1 FST LTBP3 PAPSS2 WDR72
2 respiratory system MP:0005388 9.55 COL2A1 FST LTBP2 LTBP3 TRPV4
3 skeleton MP:0005390 9.43 COL2A1 FST GALNS LTBP3 PAPSS2 WDR72
4 vision/eye MP:0005391 9.1 COL2A1 FST GALNS LTBP2 LTBP3 TRPV4

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:

42
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
Brachyolmia and spinal stenosis. ( 12833413 )
2003
12
Short trunk stature, brachydactyly, and platyspondyly in three sibs: a new form of brachyolmia or a new skeletal dysplasia? ( 12784309 )
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 (show top 50) (show all 134)
# Gene Variation Type Significance SNP ID Assembly Location
1 TRPV4 NM_021625.4(TRPV4): c.1684G> A (p.Val562Ile) single nucleotide variant Benign/Likely benign rs56177950 GRCh37 Chromosome 12, 110230597: 110230597
2 TRPV4 NM_021625.4(TRPV4): c.1684G> A (p.Val562Ile) single nucleotide variant Benign/Likely benign rs56177950 GRCh38 Chromosome 12, 109792792: 109792792
3 TRPV4 NM_021625.4(TRPV4): c.33G> T (p.Gly11=) single nucleotide variant Benign/Likely benign rs56092423 GRCh37 Chromosome 12, 110252569: 110252569
4 TRPV4 NM_021625.4(TRPV4): c.33G> T (p.Gly11=) single nucleotide variant Benign/Likely benign rs56092423 GRCh38 Chromosome 12, 109814764: 109814764
5 TRPV4 NM_021625.4(TRPV4): c.854-4G> A single nucleotide variant Benign/Likely benign rs371733585 GRCh37 Chromosome 12, 110236721: 110236721
6 TRPV4 NM_021625.4(TRPV4): c.854-4G> A single nucleotide variant Benign/Likely benign rs371733585 GRCh38 Chromosome 12, 109798916: 109798916
7 TRPV4 NM_021625.4(TRPV4): c.2605G> A (p.Ala869Thr) single nucleotide variant Uncertain significance rs138396764 GRCh38 Chromosome 12, 109783632: 109783632
8 TRPV4 NM_021625.4(TRPV4): c.2605G> A (p.Ala869Thr) single nucleotide variant Uncertain significance rs138396764 GRCh37 Chromosome 12, 110221437: 110221437
9 TRPV4 NM_021625.4(TRPV4): c.2498A> G (p.Asn833Ser) single nucleotide variant Benign/Likely benign rs116035946 GRCh38 Chromosome 12, 109783739: 109783739
10 TRPV4 NM_021625.4(TRPV4): c.2498A> G (p.Asn833Ser) single nucleotide variant Benign/Likely benign rs116035946 GRCh37 Chromosome 12, 110221544: 110221544
11 TRPV4 NM_021625.4(TRPV4): c.2248G> A (p.Val750Ile) single nucleotide variant Likely benign rs148171058 GRCh38 Chromosome 12, 109786798: 109786798
12 TRPV4 NM_021625.4(TRPV4): c.2248G> A (p.Val750Ile) single nucleotide variant Likely benign rs148171058 GRCh37 Chromosome 12, 110224603: 110224603
13 TRPV4 NM_021625.4(TRPV4): c.1546A> G (p.Ile516Val) single nucleotide variant Likely benign rs115976458 GRCh38 Chromosome 12, 109793968: 109793968
14 TRPV4 NM_021625.4(TRPV4): c.1546A> G (p.Ile516Val) single nucleotide variant Likely benign rs115976458 GRCh37 Chromosome 12, 110231773: 110231773
15 TRPV4 NM_021625.4(TRPV4): c.1308C> T (p.Ile436=) single nucleotide variant Benign/Likely benign rs141244183 GRCh38 Chromosome 12, 109796549: 109796549
16 TRPV4 NM_021625.4(TRPV4): c.1308C> T (p.Ile436=) single nucleotide variant Benign/Likely benign rs141244183 GRCh37 Chromosome 12, 110234354: 110234354
17 TRPV4 NM_021625.4(TRPV4): c.769C> G (p.Leu257Val) single nucleotide variant Conflicting interpretations of pathogenicity rs56217500 GRCh38 Chromosome 12, 109800702: 109800702
18 TRPV4 NM_021625.4(TRPV4): c.769C> G (p.Leu257Val) single nucleotide variant Conflicting interpretations of pathogenicity rs56217500 GRCh37 Chromosome 12, 110238507: 110238507
19 TRPV4 NM_021625.4(TRPV4): c.712+10C> T single nucleotide variant Benign/Likely benign rs115657305 GRCh38 Chromosome 12, 109802981: 109802981
20 TRPV4 NM_021625.4(TRPV4): c.712+10C> T single nucleotide variant Benign/Likely benign rs115657305 GRCh37 Chromosome 12, 110240786: 110240786
21 TRPV4 NM_021625.4(TRPV4): c.152C> T (p.Pro51Leu) single nucleotide variant Benign/Likely benign rs115861965 GRCh37 Chromosome 12, 110252450: 110252450
22 TRPV4 NM_021625.4(TRPV4): c.152C> T (p.Pro51Leu) single nucleotide variant Benign/Likely benign rs115861965 GRCh38 Chromosome 12, 109814645: 109814645
23 TRPV4 NM_021625.4(TRPV4): c.2433G> C (p.Ser811=) single nucleotide variant Benign/Likely benign rs34071623 GRCh38 Chromosome 12, 109784341: 109784341
24 TRPV4 NM_021625.4(TRPV4): c.2433G> C (p.Ser811=) single nucleotide variant Benign/Likely benign rs34071623 GRCh37 Chromosome 12, 110222146: 110222146
25 TRPV4 NM_021625.4(TRPV4): c.810G> A (p.Gly270=) single nucleotide variant Benign/Likely benign rs147558344 GRCh38 Chromosome 12, 109800661: 109800661
26 TRPV4 NM_021625.4(TRPV4): c.810G> A (p.Gly270=) single nucleotide variant Benign/Likely benign rs147558344 GRCh37 Chromosome 12, 110238466: 110238466
27 TRPV4 NM_021625.4(TRPV4): c.55C> T (p.Pro19Ser) single nucleotide variant Benign rs3742030 GRCh37 Chromosome 12, 110252547: 110252547
28 TRPV4 NM_021625.4(TRPV4): c.55C> T (p.Pro19Ser) single nucleotide variant Benign rs3742030 GRCh38 Chromosome 12, 109814742: 109814742
29 TRPV4 NM_021625.4(TRPV4): c.649G> T (p.Ala217Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs187864727 GRCh37 Chromosome 12, 110240859: 110240859
30 TRPV4 NM_021625.4(TRPV4): c.649G> T (p.Ala217Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs187864727 GRCh38 Chromosome 12, 109803054: 109803054
31 TRPV4 NM_021625.4(TRPV4): c.789T> C (p.Asp263=) single nucleotide variant Benign rs3742034 GRCh37 Chromosome 12, 110238487: 110238487
32 TRPV4 NM_021625.4(TRPV4): c.789T> C (p.Asp263=) single nucleotide variant Benign rs3742034 GRCh38 Chromosome 12, 109800682: 109800682
33 TRPV4 NM_021625.4(TRPV4): c.795C> T (p.His265=) single nucleotide variant Benign rs1344554 GRCh37 Chromosome 12, 110238481: 110238481
34 TRPV4 NM_021625.4(TRPV4): c.795C> T (p.His265=) single nucleotide variant Benign rs1344554 GRCh38 Chromosome 12, 109800676: 109800676
35 TRPV4 NM_021625.4(TRPV4): c.1153-10C> T single nucleotide variant Benign/Likely benign rs149541389 GRCh37 Chromosome 12, 110234519: 110234519
36 TRPV4 NM_021625.4(TRPV4): c.1153-10C> T single nucleotide variant Benign/Likely benign rs149541389 GRCh38 Chromosome 12, 109796714: 109796714
37 TRPV4 NM_021625.4(TRPV4): c.2034C> T (p.Ile678=) single nucleotide variant Benign rs3742037 GRCh37 Chromosome 12, 110226379: 110226379
38 TRPV4 NM_021625.4(TRPV4): c.2034C> T (p.Ile678=) single nucleotide variant Benign rs3742037 GRCh38 Chromosome 12, 109788574: 109788574
39 TRPV4 NM_021625.4(TRPV4): c.2518G> A (p.Glu840Lys) single nucleotide variant Benign/Likely benign rs55728855 GRCh37 Chromosome 12, 110221524: 110221524
40 TRPV4 NM_021625.4(TRPV4): c.2518G> A (p.Glu840Lys) single nucleotide variant Benign/Likely benign rs55728855 GRCh38 Chromosome 12, 109783719: 109783719
41 TRPV4 NM_021625.4(TRPV4): c.1713C> G (p.Ile571Met) single nucleotide variant Benign/Likely benign rs185933892 GRCh38 Chromosome 12, 109792763: 109792763
42 TRPV4 NM_021625.4(TRPV4): c.1713C> G (p.Ile571Met) single nucleotide variant Benign/Likely benign rs185933892 GRCh37 Chromosome 12, 110230568: 110230568
43 TRPV4 NM_021625.4(TRPV4): c.1341C> T (p.His447=) single nucleotide variant Benign/Likely benign rs57316123 GRCh37 Chromosome 12, 110232284: 110232284
44 TRPV4 NM_021625.4(TRPV4): c.1341C> T (p.His447=) single nucleotide variant Benign/Likely benign rs57316123 GRCh38 Chromosome 12, 109794479: 109794479
45 TRPV4 NM_021625.4(TRPV4): c.387-4C> T single nucleotide variant Benign/Likely benign rs12305439 GRCh38 Chromosome 12, 109808472: 109808472
46 TRPV4 NM_021625.4(TRPV4): c.387-4C> T single nucleotide variant Benign/Likely benign rs12305439 GRCh37 Chromosome 12, 110246277: 110246277
47 TRPV4 NM_021625.4(TRPV4): c.81T> C (p.Gly27=) single nucleotide variant Benign rs34599967 GRCh37 Chromosome 12, 110252521: 110252521
48 TRPV4 NM_021625.4(TRPV4): c.81T> C (p.Gly27=) single nucleotide variant Benign rs34599967 GRCh38 Chromosome 12, 109814716: 109814716
49 TRPV4 NM_021625.4(TRPV4): c.1539C> T (p.Gly513=) single nucleotide variant Benign/Likely benign rs141295418 GRCh37 Chromosome 12, 110231780: 110231780
50 TRPV4 NM_021625.4(TRPV4): c.1539C> T (p.Gly513=) single nucleotide variant Benign/Likely benign rs141295418 GRCh38 Chromosome 12, 109793975: 109793975

Expression for Brachyolmia

Search GEO for disease gene expression data for Brachyolmia.

Pathways for Brachyolmia

Pathways related to Brachyolmia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.49 LTBP2 LTBP3

GO Terms for Brachyolmia

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 8.62 COL2A1 LTBP2

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

# Name GO ID Score Top Affiliating Genes
1 bone development GO:0060348 8.96 COL2A1 PAPSS2
2 cartilage development involved in endochondral bone morphogenesis GO:0060351 8.62 COL2A1 TRPV4

Molecular functions related to Brachyolmia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 growth factor binding GO:0019838 8.62 LTBP2 LTBP3

Sources for Brachyolmia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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