MCID: DFN362
MIFTS: 14

Deafness, Autosomal Dominant 34, with or Without Inflammation

Categories: Genetic diseases, Ear diseases

Aliases & Classifications for Deafness, Autosomal Dominant 34, with or Without Inflammation

MalaCards integrated aliases for Deafness, Autosomal Dominant 34, with or Without Inflammation:

Name: Deafness, Autosomal Dominant 34, with or Without Inflammation 57 75 29 6
Dfna34 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
variable phenotype
onset of hearing loss range first to fourth decade
slowly progressive
treatment with an il-1 receptor antagonist may be effective if started early
two unrelated families have been reported (last curated november 2017)


Classifications:



External Ids:

OMIM 57 617772
MeSH 44 D006319

Summaries for Deafness, Autosomal Dominant 34, with or Without Inflammation

OMIM : 57 DFNA34 is an autosomal dominant form of postlingual, slowly progressive sensorineural hearing loss with variable severity and variable additional features. Some patients have pure hearing loss without significant additional features, whereas some patients have features of an autoinflammatory disorder with systemic manifestations, including periodic fevers, arthralgias, and episodic urticaria. The disorder results from abnormally increased activation of the inflammatory pathway, and treatment with an IL1 receptor antagonist (see 147679) may be effective if started early (summary by Nakanishi et al., 2017). (617772)

MalaCards based summary : Deafness, Autosomal Dominant 34, with or Without Inflammation, is also known as dfna34. An important gene associated with Deafness, Autosomal Dominant 34, with or Without Inflammation is NLRP3 (NLR Family Pyrin Domain Containing 3). Affiliated tissues include brain.

UniProtKB/Swiss-Prot : 75 Deafness, autosomal dominant 34, with or without inflammation: A form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA34 is a postlingual, slowly progressive form with variable severity and variable additional features. Some DFNA34 patients have autoinflammatory manifestations.

Related Diseases for Deafness, Autosomal Dominant 34, with or Without Inflammation

Symptoms & Phenotypes for Deafness, Autosomal Dominant 34, with or Without Inflammation

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
sensorineural hearing loss, postlingual
abnormal fluid signals suggestive of inflammation in the cochlea seen on imaging

Head And Neck Mouth:
oral ulcers

Skin Nails Hair Skin:
urticaria, episodic

Immunology:
systemic autoinflammation
periodic fever
lymphadenopathy
peripheral blood cells secrete abnormally high levels of il-1b in response to stimulation with lps

Head And Neck Eyes:
conjunctivitis

Skeletal:
arthralgia
arthritis

Neurologic Central Nervous System:
headache

Laboratory Abnormalities:
increased serum markers of systemic inflammation (in some patients)


Clinical features from OMIM:

617772

Drugs & Therapeutics for Deafness, Autosomal Dominant 34, with or Without Inflammation

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant 34, with or Without Inflammation

Genetic Tests for Deafness, Autosomal Dominant 34, with or Without Inflammation

Genetic tests related to Deafness, Autosomal Dominant 34, with or Without Inflammation:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 34, with or Without Inflammation 29

Anatomical Context for Deafness, Autosomal Dominant 34, with or Without Inflammation

MalaCards organs/tissues related to Deafness, Autosomal Dominant 34, with or Without Inflammation:

41
Brain

Publications for Deafness, Autosomal Dominant 34, with or Without Inflammation

Variations for Deafness, Autosomal Dominant 34, with or Without Inflammation

ClinVar genetic disease variations for Deafness, Autosomal Dominant 34, with or Without Inflammation:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NLRP3 NM_004895.4(NLRP3): c.2759G> A (p.Arg920Gln) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 247444061: 247444061
2 NLRP3 NM_004895.4(NLRP3): c.2759G> A (p.Arg920Gln) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 247607363: 247607363

Expression for Deafness, Autosomal Dominant 34, with or Without Inflammation

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 34, with or Without Inflammation.

Pathways for Deafness, Autosomal Dominant 34, with or Without Inflammation

GO Terms for Deafness, Autosomal Dominant 34, with or Without Inflammation

Sources for Deafness, Autosomal Dominant 34, with or Without Inflammation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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