MCID: BRC003
MIFTS: 27

Brachyolmia malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories
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Summaries for Brachyolmia

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47OMIM, 33MalaCards
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MalaCards: Brachyolmia, also known as brachyrachia, is related to brachyolmia type 3 and spondyloepiphyseal dysplasia maroteaux type. An important gene associated with Brachyolmia is TRPV4 (transient receptor potential cation channel, subfamily V, member 4). Affiliated tissues include bone.

Description from OMIM:47 113500

Aliases & Classifications for Brachyolmia

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Sources:
8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 62UMLS, 22GTR, 47OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases


Aliases & Descriptions:

brachyolmia 8 43 10 62
brachyrachia 8 22


External Ids:

Disease Ontology8 DOID:0050690
OMIM47 113500

Related Diseases for Brachyolmia

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17GeneCards, 18GeneDecks
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Diseases in the Brachyolmia Type 3 family:

brachyolmia

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

idRelated DiseaseScoreTop Affiliating Genes
1brachyolmia type 310.6
2spondyloepiphyseal dysplasia maroteaux type10.4
3brachyolmia type 1 hobaek type10.4
4spondyloepiphyseal dysplasia tarda toledo type10.3
5brachyolmia 4 with mild epiphyseal and metaphyseal changes10.3
6brachyolmia-amelogenesis imperfecta syndrome10.2
7skeletal dysplasias10.2
8amelogenesis imperfecta10.0
9spinal stenosis10.0
10brachydactyly10.0

Graphical network of diseases related to Brachyolmia:



Diseases related to brachyolmia

Symptoms for Brachyolmia

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47OMIM
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Clinical features from OMIM:

113500

Drugs & Therapeutics for Brachyolmia

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Brachyolmia

Search NIH Clinical Center for Brachyolmia

Genetic Tests for Brachyolmia

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22GTR
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Genetic tests related to Brachyolmia:

id Genetic test Affiliating Genes
1 Brachyrachia (short Spine Dysplasia)22

Anatomical Context for Brachyolmia

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33MalaCards
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MalaCards organs/tissues related to Brachyolmia:

33
Bone

Animal Models for Brachyolmia or affiliated genes

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Publications for Brachyolmia

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Sources:
52PubMed
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Articles related to Brachyolmia:

(show all 19)
idTitleAuthorsYear
1
Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations. (23824674)
2013
2
PAPSS2 mutations cause autosomal recessive brachyolmia. (22791835)
2012
3
Wild-type and brachyolmia-causing mutant TRPV4 channels respond directly to stretch force. (20605796)
2010
4
Brachyolmia with amelogenesis imperfecta: further evidence of a distinct entity. (19213025)
2009
5
Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. (18587396)
2008
6
Two sibs with brachyolmia type Hobaek: five year follow-up through puberty. (12476457)
2003
7
Brachyolmia and spinal stenosis. (12833413)
2003
8
Short trunk stature, brachydactyly, and platyspondyly in three sibs: a new form of brachyolmia or a new skeletal dysplasia? (12784309)
2003
9
Familial brachyolmia. (10968486)
2000
10
A case of brachyolmia. (9339123)
1997
11
Toledo type brachyolmia. (8660094)
1996
12
Brachyolmia: a report of two cases. (7883917)
1995
13
Toledo type brachyolmia. (7826119)
1994
14
Brachyolmia: an autosomal dominant form. (8209891)
1994
15
Spondylar dysplasia (SD)/brachyolmia (BO), type I: search for qualitative anomalies in glycosaminoglycans (GAG) (1424247)
1992
16
Brachyolmia: a skeletal dysplasia with an altered mucopolysaccharide excretion. (1836753)
1991
17
Brachyolmia: radiographic and genetic evidence of heterogeneity. (2669482)
1989
18
Brachyolmia, recessive type (Hobaek): a clinical, radiographic, and histochemical study. (6650565)
1983
19
Excretion of chondroitin sulfate C with low sulfate content by patients with generalized platyspondyly (brachyolmia). (4268486)
1973

Variations for Brachyolmia

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Brachyolmia:

1
id Gene Name Type Significance SNP ID Assembly Location
1TRPV4NM_021625.4(TRPV4): c.1847G> A (p.Arg616Gln)single nucleotide variantPathogenicrs121912632GRCh37Chr 12, 110230212: 110230212
2TRPV4NM_021625.4(TRPV4): c.1858G> A (p.Val620Ile)single nucleotide variantPathogenicrs121912633GRCh37Chr 12, 110230201: 110230201

Expression for genes affiliated with Brachyolmia

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Brachyolmia

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Pathways for genes affiliated with Brachyolmia

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Compounds for genes affiliated with Brachyolmia

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GO Terms for genes affiliated with Brachyolmia

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16Gene Ontology
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Molecular functions related to Brachyolmia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ATP bindingGO:0055249.0TRPV4, PAPSS2

Products for genes affiliated with Brachyolmia

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  • Antibodies
  • Proteins
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Sources for Brachyolmia

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet