MCID: DFN038
MIFTS: 29

Dfnb1 malady

Categories: Rare diseases, Ear diseases

Aliases & Classifications for Dfnb1

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Aliases & Descriptions for Dfnb1:

Name: Dfnb1 45 47
Deafness Nonsyndromic, Connexin 26 Linked 45
 
Gjb2-Related Deafness 45
Connexin 26 Deafness 45

Classifications:



Summaries for Dfnb1

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MalaCards based summary: Dfnb1, also known as deafness nonsyndromic, connexin 26 linked, is related to nonsyndromic hearing loss and deafness, dfnb1 and dfnb 1 nonsyndromic hearing loss and deafness. An important gene associated with Dfnb1 is GJB2 (Gap Junction Protein Beta 2), and among its related pathways are Myometrial Relaxation and Contraction Pathways and Gap junction trafficking. Affiliated tissues include adipocyte, breast and thyroid, and related mouse phenotypes are no phenotypic analysis and integument.

Related Diseases for Dfnb1

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Diseases related to Dfnb1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 74)
idRelated DiseaseScoreTop Affiliating Genes
1nonsyndromic hearing loss and deafness, dfnb133.9GJB2, GJB6
2dfnb 1 nonsyndromic hearing loss and deafness11.3
3gjb2-related dfnb 1 nonsyndromic hearing loss and deafness11.3
4gjb6-related dfnb 1 nonsyndromic hearing loss and deafness11.3
5respiratory failure10.4
6pneumonia10.4
7encephalitis10.4
8myocardial infarction 210.3GJB2, GJB6
9congenital deafness with vitiligo and achalasia10.3GJB2, GJB6
10charcot-marie-tooth disease, type 1a10.3GJB2, MYO7A
11deafness, autosomal dominant 1110.3GJB2, MYO7A
12pseudoaminopterin syndrome10.2GJB3, GJB6
13ectodermal dysplasia 2, clouston type10.2GJB2, GJB6
14spastic paraplegia 50, autosomal recessive10.1GJB2, GJB3
15neuroblastoma10.1
16prostate cancer10.1
17breast cancer10.1
18anorexia nervosa10.1
19keratitis10.1
20tay-sachs disease10.1
21cerebral palsy10.1
22hemangioma10.1
23hepatitis10.1
24hereditary hemorrhagic telangiectasia10.1
25liver disease10.1
26osteopetrosis10.1
27phaeochromocytoma10.1
28lymphoma10.1
29scoliosis10.1
30idiopathic scoliosis10.1
31typhus10.1
32heart disease10.1
33blastomycosis10.1
34scrub typhus10.1
35ochronosis10.1
36prostatitis10.1
37cervicitis10.1
38endometriosis10.1
39ischemia10.1
40cerebritis10.1
41olfactory neuroblastoma10.1
42pyoderma10.1
43cavernous hemangioma10.1
44peritonitis10.1
45pyoderma gangrenosum10.1
46croup10.1
47adolescent idiopathic scoliosis10.1
48pustulosis palmaris et plantaris10.1
49spontaneous coronary artery dissection10.1
50endotheliitis10.1

Graphical network of the top 20 diseases related to Dfnb1:



Diseases related to dfnb1

Symptoms for Dfnb1

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Drugs & Therapeutics for Dfnb1

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Interventional clinical trials:

idNameStatusNCT IDPhase
1The Prevalence of Hearing Loss Among Children With Congenital HypothyroidismWithdrawnNCT01223638

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Genetic Tests for Dfnb1

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Anatomical Context for Dfnb1

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MalaCards organs/tissues related to Dfnb1:

33
Adipocyte, Breast, Thyroid, Prostate, Testes, Neutrophil, B cells

Animal Models for Dfnb1 or affiliated genes

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MGI Mouse Phenotypes related to Dfnb1:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.6GJB2, GJB3, GJB6, MYO7A, OTOF
2MP:00107718.6GJB2, GJB3, GJB6, MYO7A, POU3F4
3MP:00053777.9GJB2, GJB6, MYO7A, OTOF, PCDH15, POU3F4
4MP:00036317.8GJB2, GJB6, MYO7A, OTOF, PCDH15, POU3F4

Publications for Dfnb1

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Articles related to Dfnb1:

(show all 44)
idTitleAuthorsYear
1
Anxiety and oppositional behavior profiles among youth with selective mutism. (26625009)
2016
2
Decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants. (25652356)
2015
3
Bimatoprost (0.03%)-induced accommodative spasm and pseudomyopia. (26598527)
2015
4
Effectiveness and Mechanism of Preoperative Lugol Solution for Reducing Thyroid Blood Flow in Patients with Euthyroid Graves' Disease. (26546192)
2015
5
Coinfection with Plasmodium falciparum and Schistosoma haematobium: Additional Evidence of the Protective Effect of Schistosomiasis on Malaria in Senegalese Children. (24323515)
2013
6
JNK inhibitor SP600125 enhances TGF-I^-induced apoptosis of RBE human cholangiocarcinoma cells in a Smad-dependent manner. (24100678)
2013
7
The great debate: stopping immunomodulators and biologics in Crohn's disease patients in remission. (23984997)
2013
8
Clinical and laboratory features of chronic idiopathic urticaria in the elderly. (23834467)
2013
9
Utility and uncorrected refractive error. (23664469)
2013
10
MFG-E8/lactadherin regulates cyclins D1/D3 expression and enhances the tumorigenic potential of mammary epithelial cells. (21841820)
2012
11
Portal vein thrombosis following laparoscopic cholecystectomy complicated by dengue viral infection: a case report. (21450059)
2011
12
Association between polymorphism of glutathione S-transferase P1 and chronic obstructive pulmonary disease: a meta-analysis. (20117922)
2010
13
Salivary peptidomics. (20973643)
2010
14
Interleukin-1beta is a positive regulator of TIARP/STAMP2 gene and protein expression in adipocytes in vitro. (19289123)
2009
15
Long-term outcome of patients treated with terlipressin for types 1 and 2 hepatorenal syndrome. (17784863)
2008
16
Specific TLR ligands regulate APRIL secretion by dendritic cells in a PKR-dependent manner. (17899538)
2007
17
Regulation of Notch1 gene expression by p53 in epithelial cells. (17353266)
2007
18
Human cytochrome p450 induction and inhibition potential of clevidipine and its primary metabolite h152/81. (16501008)
2006
19
Spontaneous remission of marginal zone B cell lymphoma in a patient with seropositive rheumatoid arthritis after discontinuation of infliximab-methotrexate treatment. (15958773)
2005
20
Impact of EGFR expression on colorectal cancer patient prognosis and survival. (15598946)
2005
21
A new botulinum toxin type A free of complexing proteins for treatment of cervical dystonia. (15955951)
2005
22
Hangover susceptibility in relation to aldehyde dehydrogenase-2 genotype, alcohol flushing, and mean corpuscular volume in Japanese workers. (16046871)
2005
23
Chemosensitizers in drug transport mechanisms involved in protozoan resistance. (16535862)
2005
24
Preclinical pharmacology of FMPD [6-fluoro-10-[3-(2-methoxyethyl)-4-methyl-piperazin-1-yl]-2-methyl-4H-3-thia-4,9-diaza-benzo[f]azulene]: a potential novel antipsychotic with lower histamine H1 receptor affinity than olanzapine. (16141369)
2005
25
Recent advances in ideas on the molecular pathology and clinical aspects of Von Hippel-Lindau disease. (15375704)
2004
26
Central serous chorioretinopathy in African Americans. (12911253)
2003
27
Calcospherules associated with juvenile hyaline fibromatosis. (12544101)
2003
28
Surgical management of the cutaneous manifestations of linear nevus sebaceus syndrome. (12621173)
2003
29
Platelet chemokines and their receptors: what is their relevance to platelet storage and transfusion practice? (11851938)
2001
30
Expression of human anti-HBsAg-interferon fusion protein in CHO cells]. (11350695)
2001
31
Potential human neurotoxicity of MDMA ('Ecstasy'): subjective self-reports, evidence from an Italian drug addiction centre and clinical case studies. (10867553)
2000
32
Direct transactivation of the anti-apoptotic gene apolipoprotein J (clusterin) by B-MYB. (10770937)
2000
33
1,25-dihydroxyvitamin D3 and TPA activate phospholipase D in Caco-2 cells: role of PKC-alpha. (10198344)
1999
34
Technologies to minimize blood transfusion in cardiac and orthopedic surgery. Results of a practice variation survey in nine countries. International Study of Peri-operative Transfusion (ISPOT) Investigators. (10645113)
1999
35
Angioedema: the role of ACE inhibitors and factors associated with poor clinical outcome. (9290997)
1997
36
Unusual histologic types of high-grade prostatic intraepithelial neoplasia. (9331295)
1997
37
Bronchial hyper-responsiveness in atopic dermatitis. (9141255)
1997
38
Cytomegalovirus causing necrotizing laryngitis in a renal and cardiac transplant recipient. (8864737)
1996
39
Myoepithelioma of the retroperitoneum. (7571084)
1995
40
Comparison of estrogen and progesterone receptor status to lymphocyte immunity against tumor antigens in breast cancer patients. (7981448)
1994
41
Adenosine deaminase activity in pleural fluid--a diagnostic test of tuberculous pleural effusion. (1302219)
1992
42
Myelomonocytic cell lineage expression of the neutrophil elastase gene. (3422232)
1988
43
Clinical presentation of Lassa fever cases during the hospital epidemic at Zorzor, Liberia, March-April 1972. (4745237)
1973
44
Keratoconjunctivitis sicca; a review with a survey of 121 additional cases. (15405338)
1950

Variations for Dfnb1

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Expression for genes affiliated with Dfnb1

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Search GEO for disease gene expression data for Dfnb1.

Pathways for genes affiliated with Dfnb1

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GO Terms for genes affiliated with Dfnb1

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Cellular components related to Dfnb1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1apical plasma membraneGO:00163249.8GJB6, MYO7A

Biological processes related to Dfnb1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cell communicationGO:000715410.0GJB2, GJB6
2sensory perception of soundGO:00076059.4GJB2, GJB3, GJB6

Sources for Dfnb1

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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