DFNA34
MCID: DFN362
MIFTS: 19

Deafness, Autosomal Dominant 34, with or Without Inflammation (DFNA34)

Categories: Ear diseases, Genetic diseases, Neuronal 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 58 76 30 6
Dfna34 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
deafness, autosomal dominant 34, with or without inflammation:
Onset and clinical course variable expressivity slow progression


Classifications:



External Ids:

OMIM 58 617772
MeSH 45 D006319

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

OMIM : 58 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, also known as dfna34, is related to ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus and nonsyndromic deafness. 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, and related phenotypes are arthritis and fever

UniProtKB/Swiss-Prot : 76 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

Diseases related to Deafness, Autosomal Dominant 34, with or Without Inflammation via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
2 nonsyndromic deafness 10.1

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

Human phenotypes related to Deafness, Autosomal Dominant 34, with or Without Inflammation:

33
# Description HPO Frequency HPO Source Accession
1 arthritis 33 HP:0001369
2 fever 33 HP:0001945
3 arthralgia 33 HP:0002829
4 lymphadenopathy 33 HP:0002716

Symptoms via clinical synopsis from OMIM:

58
Skeletal:
arthritis
arthralgia

Neurologic Central Nervous System:
headache

Head And Neck Mouth:
oral ulcers

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

Head And Neck Eyes:
conjunctivitis

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

Skin Nails Hair Skin:
urticaria, episodic

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 30 NLRP3

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

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

42
Brain

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

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

# Title Authors Year
1
Gradual Symmetric Progression of DFNA34 Hearing Loss Caused by an NLRP3 Mutation and Cochlear Autoinflammation. ( 29342053 )
2018
2
NLRP3 mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy. ( 28847925 )
2017

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 Uncertain significance rs1553293095 GRCh38 Chromosome 1, 247444061: 247444061
2 NLRP3 NM_004895.4(NLRP3): c.2759G> A (p.Arg920Gln) single nucleotide variant Uncertain significance rs1553293095 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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