MCID: BRC045
MIFTS: 33

Brachyolmia Type 3 malady

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

Aliases & Classifications for Brachyolmia Type 3

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Aliases & Descriptions for Brachyolmia Type 3:

Name: Brachyolmia Type 3 52 48 24 54 12
Brachyrachia 11 48 24 70 27
Brachyolmia 11 48 13 68
Autosomal Dominant Brachyolmia 48 54 70
 
Brachyolmia, Autosomal Dominant 24
Brachyolmia Autosomal Dominant 48
Brachyolmia 3 70
Bcym3 70

Characteristics:

Orphanet epidemiological data:

54
brachyolmia type 3:
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: normal life expectancy

HPO:

64
brachyolmia type 3:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 113500
Disease Ontology11 DOID:0050690
Orphanet54 ORPHA93304
ICD10 via Orphanet31 Q76.3
MedGen37 C0432227
MeSH39 D010009

Summaries for Brachyolmia Type 3

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UniProtKB/Swiss-Prot:70 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.

MalaCards based summary: Brachyolmia Type 3, also known as brachyrachia, is related to brachyolmia type 2 and brachyolmia 4 with mild epiphyseal and metaphyseal changes, and has symptoms including platyspondyly, scoliosis and kyphosis. 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, and related mouse phenotypes are craniofacial and homeostasis/metabolism.

Disease Ontology:11 An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature.

Description from OMIM:52 113500

Related Diseases for Brachyolmia Type 3

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Graphical network of the top 20 diseases related to Brachyolmia Type 3:



Diseases related to brachyolmia type 3

Symptoms & Phenotypes for Brachyolmia Type 3

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Symptoms by clinical synopsis from OMIM:

113500

Clinical features from OMIM:

113500

Human phenotypes related to Brachyolmia Type 3:

 64 54 (show all 17)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 platyspondyly64 54 hallmark (90%) Very frequent (99-80%) HP:0000926
2 scoliosis64 hallmark (90%) HP:0002650
3 kyphosis64 hallmark (90%) HP:0002808
4 short stature64 54 hallmark (90%) Very frequent (99-80%) HP:0004322
5 short thorax64 54 hallmark (90%) Very frequent (99-80%) HP:0010306
6 abnormality of the metaphyses64 54 occasional (7.5%) Occasional (29-5%) HP:0000944
7 short neck64 HP:0000470
8 hypermetropia64 HP:0000540
9 barrel-shaped chest64 HP:0001552
10 spinal cord compression64 HP:0002176
11 proximal femoral metaphyseal irregularity64 HP:0003411
12 childhood-onset short-trunk short stature64 HP:0008922
13 radial deviation of finger64 HP:0009466
14 clinodactyly64 HP:0030084
15 short femoral neck64 HP:0100864
16 kyphoscoliosis54 Very frequent (99-80%)
17 increased vertebral height54 Very frequent (99-80%)

MGI Mouse Phenotypes related to Brachyolmia Type 3 according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.8COL2A1, ENAM, FST, PAPSS2, WDR72
2MP:00053766.7COL2A1, ENAM, FST, GALNS, GPX4, MGAM

Drugs & Therapeutics for Brachyolmia Type 3

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Brachyolmia Type 3

Genetic Tests for Brachyolmia Type 3

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Genetic tests related to Brachyolmia Type 3:

id Genetic test Affiliating Genes
1 Brachyrachia (short Spine Dysplasia)27
2 Brachyolmia Type 324 TRPV4

Anatomical Context for Brachyolmia Type 3

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MalaCards organs/tissues related to Brachyolmia Type 3:

36
Bone, Spinal cord

Publications for Brachyolmia Type 3

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Variations for Brachyolmia Type 3

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UniProtKB/Swiss-Prot genetic disease variations for Brachyolmia Type 3:

70
id Symbol AA change Variation ID SNP ID
1TRPV4p.Arg616GlnVAR_054805rs121912632
2TRPV4p.Val620IleVAR_054806rs121912633

Clinvar genetic disease variations for Brachyolmia Type 3:

5
id Gene Variation Type Significance SNP ID Assembly Location
1TRPV4NM_021625.4(TRPV4): c.1847G> A (p.Arg616Gln)SNVPathogenicrs121912632GRCh37Chr 12, 110230212: 110230212
2TRPV4NM_021625.4(TRPV4): c.1858G> A (p.Val620Ile)SNVPathogenicrs121912633GRCh37Chr 12, 110230201: 110230201

Expression for genes affiliated with Brachyolmia Type 3

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Search GEO for disease gene expression data for Brachyolmia Type 3.

Pathways for genes affiliated with Brachyolmia Type 3

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GO Terms for genes affiliated with Brachyolmia Type 3

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Biological processes related to Brachyolmia Type 3 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1bone developmentGO:00603489.6COL2A1, PAPSS2

Sources for Brachyolmia Type 3

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet