MCID: BRC003
MIFTS: 28

Brachyolmia malady

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

Aliases & Classifications for Brachyolmia

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Aliases & Descriptions for Brachyolmia:

Name: Brachyolmia 10 45 12 65
 
Brachyrachia 10

Classifications:



External Ids:

Disease Ontology10 DOID:0050690
UMLS65 C0432228

Summaries for Brachyolmia

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Disease Ontology:10 An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature.

MalaCards based summary: Brachyolmia, also known as brachyrachia, is related to brachyolmia type 3 and brachyolmia 4 with mild epiphyseal and metaphyseal changes, and has symptoms including platyspondyly, 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, endothelial and testes, and related mouse phenotypes are vision/eye and skeleton.

Related Diseases for Brachyolmia

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Diseases in the Brachyolmia family:

Brachyolmia Type 3

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

(show all 50)
idRelated DiseaseScoreTop Affiliating Genes
1brachyolmia type 312.6
2brachyolmia 4 with mild epiphyseal and metaphyseal changes12.5
3brachyolmia type 1 hobaek type12.4
4brachyolmia-amelogenesis imperfecta syndrome12.3
5sed, maroteaux type11.7
6dental anomalies and short stature11.6
7spondyloepiphyseal dysplasia tarda toledo type11.4
8arrhythmogenic right ventricular dysplasia 110.4LTBP2, LTBP3
9spinocerebellar ataxia 2010.3LTBP2, LTBP3
10microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma10.3LTBP2, LTBP3
11weill-marchesani syndrome 3, recessive10.3LTBP2, LTBP3
12acute contagious conjunctivitis10.3LTBP2, LTBP3
13hydrophthalmos10.3LTBP2, LTBP3
14autosomal dominant non-syndromic intellectual disability10.3LTBP2, LTBP3
15esophageal duplication cyst10.3ENAM, LTBP3
16papillary extrahepatic bile duct adenocarcinoma10.2ENAM, WDR72
17smed strudwick type10.2COL2A1, TRPV4
18stickler syndrome10.2COL2A1, TRPV4
19osteoporosis10.2
20gastric cancer10.2
21hepatitis10.2
22dressler's syndrome10.2
23hemiplegia10.2
24idiopathic juvenile osteoporosis10.2
25urethritis10.2
26hepatitis c10.2
27merkel cell carcinoma10.2
28pulmonary eosinophilia10.2
29eosinophilia10.2
30hypereosinophilic syndrome10.2
31oculo-auriculo-vertebral spectrum10.2
32posterior urethral valves10.2
33acth deficiency10.2
34cardiomyopathy10.2
35left ventricular outflow tract obstruction10.2
36endotheliitis10.2
37uremic pruritus10.2
38urethral urothelial papilloma10.2ENAM, WDR72
39epidermolysis bullosa, pretibial10.2COL2A1, TRPV4
40epidemic typhus10.1LTBP2, LTBP3
41skeleto cardiac syndrome with thrombocytopenia10.1COL2A1, PAPSS2, TRPV4
42slc16a1-related hyperinsulinism10.1COL2A1, TRPV4
43myopathy with extrapyramidal signs10.1COL2A1, GALNS
44anal fistula10.1ENAM, WDR72
45achondrogenesis, type ii or hypochondrogenesis10.0COL2A1, GALNS, TRPV4
46spondyloepimetaphyseal dysplasia10.0COL2A1, PAPSS2
47epileptic encephalopathy, early infantile, 110.0COL2A1, TRAPPC2B
48separation anxiety disorder9.9LTBP2, LTBP3
49darier disease9.8COL2A1, GALNS, TRAPPC2B
50brown-vialetto-van laere syndrome7.5COL2A1, ENAM, FST, GALNS, HSPB3, LTBP2

Graphical network of the top 20 diseases related to Brachyolmia:



Diseases related to brachyolmia

Symptoms for Brachyolmia

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HPO human phenotypes related to Brachyolmia:

id Description Frequency HPO Source Accession
1 platyspondyly hallmark (90%) HP:0000926
2 short stature hallmark (90%) HP:0004322
3 short thorax hallmark (90%) HP:0010306

Drugs & Therapeutics for Brachyolmia

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Brachyolmia

Genetic Tests for Brachyolmia

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Anatomical Context for Brachyolmia

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MalaCards organs/tissues related to Brachyolmia:

33
Bone, Endothelial, Testes, Tongue

Animal Models for Brachyolmia or affiliated genes

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MGI Mouse Phenotypes related to Brachyolmia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.0COL2A1, FST, GALNS, LTBP2, LTBP3, TRPV4
2MP:00053907.8COL2A1, ENAM, FST, GALNS, LTBP3, PAPSS2
3MP:00053827.6COL2A1, ENAM, FST, LTBP3, PAPSS2, WDR72

Publications for Brachyolmia

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Articles related to Brachyolmia:

(show all 21)
idTitleAuthorsYear
1
Pediatric palliative care for youth with HIV/AIDS: systematic review of the literature. (23930080)
2013
2
Increased incidence of Merkel cell carcinoma among younger statin users. (22683172)
2012
3
Magnetic resonance findings in the pregeniculate visual pathways in Leber hereditary optic neuropathy. (21157374)
2011
4
Downregulation of the longevity-associated protein sirtuin 1 in insulin resistance and metabolic syndrome: potential biochemical mechanisms. (20068143)
2010
5
Emergency management of decompensated peripartum cardiomyopathy. (19561973)
2009
6
The continuous real-time 13C-octanoate breath test for patients with nonalcoholic steatohepatitis using the BreathID system. (19950806)
2009
7
Diagnosis of macular pseudoholes and lamellar macular holes: is optical coherence tomography the "gold standard"? (18245270)
2008
8
C-reactive protein modifies the relationship between blood pressure and microalbuminuria. (14967837)
2004
9
Actin polymerization is essential for pollen tube growth. (11514633)
2001
10
Immunohistochemical expression of bcl-2 protein in squamous cell carcinoma and basaloid carcinoma of the esophagus. (9306579)
1997
11
Levels of circulating intercellular adhesion molecule-1 and -3 but not circulating endothelial leucocyte adhesion molecule are increased in patients with rheumatoid vasculitis. (7540479)
1995
12
Histochemical localization of retinoic acid receptors in the developing hamster fetus. (8563187)
1995
13
X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome. (7616547)
1995
14
Single fiber analyses of type IIA myosin heavy chain distribution in hyper- and hypothyroid soleus. (8214040)
1993
15
Immunological and biochemical characterization of the nonspecific cross-reacting antigen epitopes using twenty-three monoclonal antibodies. (1725168)
1991
16
Assessment of serum and bile levels of CA19-9 and CA125 in cholangitis and bile duct carcinoma. (1657243)
1991
17
Retinoic acid modulation of transmembrane signaling. Analysis in F9 teratocarcinoma cells. (2170395)
1990
18
Ring chromosome 9. 46,XY,r(9) in a male with ambiguous external genitalia. (885556)
1977
19
Amaurotic family idiocy: Tay-Sachs disease. (13575842)
1958
20
Artificial enrichment of white rice as a solution to endemic beriberi; preliminary report of field trials. (18140048)
1949
21
Periarteritis nodosa; report of a case with involvement of the tongue. (18141561)
1949

Variations for Brachyolmia

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Expression for genes affiliated with Brachyolmia

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Search GEO for disease gene expression data for Brachyolmia.

Pathways for genes affiliated with Brachyolmia

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GO Terms for genes affiliated with Brachyolmia

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

idNameGO IDScoreTop Affiliating Genes
1skeletal system developmentGO:00015019.7COL2A1, PAPSS2

Sources for Brachyolmia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet