BCYM3
MCID: BRC045
MIFTS: 34

Brachyolmia Type 3 (BCYM3) 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 48 24 70 27
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
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 and epiphyseal dysplasia, multiple, with myopia and deafness, and has symptoms including Array, Array and Array. An important gene associated with Brachyolmia Type 3 is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4). Affiliated tissues include spinal cord and bone, and related mouse phenotypes are craniofacial and homeostasis/metabolism.

Description from OMIM:52 113500

Related Diseases for Brachyolmia Type 3

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Graphical network of 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:

 54 64 (show all 17)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 platyspondyly64 54 Very frequent (99-80%) HP:0000926
2 abnormality of the metaphyses64 54 Occasional (29-5%) HP:0000944
3 kyphoscoliosis64 54 Very frequent (99-80%) HP:0002751
4 short stature64 54 Very frequent (99-80%) HP:0004322
5 increased vertebral height64 54 Very frequent (99-80%) HP:0004570
6 short thorax64 54 Very frequent (99-80%) HP:0010306
7 short neck64 HP:0000470
8 hypermetropia64 HP:0000540
9 barrel-shaped chest64 HP:0001552
10 spinal cord compression64 HP:0002176
11 scoliosis64 HP:0002650
12 kyphosis64 HP:0002808
13 proximal femoral metaphyseal irregularity64 HP:0003411
14 childhood-onset short-trunk short stature64 HP:0008922
15 radial deviation of finger64 HP:0009466
16 clinodactyly64 HP:0030084
17 short femoral neck64 HP:0100864

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.0COL2A1, ENAM, FST, PAPSS2, WDR72
2MP:00053767.9COL2A1, ENAM, FST, GALNS, GPX4, MGAM
3MP:00053907.8COL2A1, ENAM, FST, GALNS, PAPSS2, WDR72

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
Spinal cord, Bone

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
1biomineral tissue developmentGO:003121410.0ENAM, WDR72
2bone developmentGO:006034810.0COL2A1, PAPSS2
3cartilage development involved in endochondral bone morphogenesisGO:00603519.8COL2A1, TRPV4

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