DFNA34
MCID: DFN362
MIFTS: 22

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 57 29 6
Dfna34 57 72
Deafness, Autosomal Dominant, 34, with or Without Inflammation 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:

31
deafness, autosomal dominant 34, with or without inflammation:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity slow progression


Classifications:



External Ids:

OMIM® 57 617772
OMIM Phenotypic Series 57 PS124900
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) (Updated 20-May-2021)

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 meniere disease. An important gene associated with Deafness, Autosomal Dominant 34, with or Without Inflammation is NLRP3 (NLR Family Pyrin Domain Containing 3). Related phenotypes are arthritis and arthralgia

UniProtKB/Swiss-Prot : 72 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 10.1
2 meniere disease 9.9
3 sensorineural hearing loss 9.9
4 sudden sensorineural hearing loss 9.9
5 nonsyndromic hearing loss 9.9

Graphical network of the top 20 diseases related to Deafness, Autosomal Dominant 34, with or Without Inflammation:



Diseases related to Deafness, Autosomal Dominant 34, with or Without Inflammation

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

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

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 arthritis 31 HP:0001369
2 arthralgia 31 HP:0002829
3 conjunctivitis 31 HP:0000509
4 urticaria 31 HP:0001025
5 headache 31 HP:0002315
6 lymphadenopathy 31 HP:0002716
7 periodic fever 31 HP:0032323

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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
periodic fever
systemic autoinflammation
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 (Updated 20-May-2021)

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 NLRP3

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

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

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

# Title Authors PMID Year
1
NLRP3 mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy. 6 57 61
28847925 2017
2
Otological aspects of NLRP3-related autoinflammatory disorder focusing on the responsiveness to anakinra. 61
33020839 2021
3
Outcome of Cochlear Implantation in NLRP3-related Autoinflammatory Inner Ear Disorders. 61
33156237 2021
4
Gradual Symmetric Progression of DFNA34 Hearing Loss Caused by an NLRP3 Mutation and Cochlear Autoinflammation. 61
29342053 2018

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 Name Type Significance ClinVarId dbSNP ID Position
1 NLRP3 NM_004895.4(NLRP3):c.2759G>A (p.Arg920Gln) SNV Pathogenic 446409 rs1553293095 GRCh37: 1:247607363-247607363
GRCh38: 1:247444061-247444061
2 NLRP3 NM_004895.4(NLRP3):c.1064T>C (p.Leu355Pro) SNV Pathogenic 4379 rs28937896 GRCh37: 1:247587809-247587809
GRCh38: 1:247424507-247424507
3 NLRP3 NM_004895.4(NLRP3):c.2126C>A (p.Pro709Gln) SNV Uncertain significance 583341 rs200378519 GRCh37: 1:247588871-247588871
GRCh38: 1:247425569-247425569
4 NLRP3 NM_004895.4(NLRP3):c.2790A>C (p.Lys930Asn) SNV Uncertain significance 234307 rs876660975 GRCh37: 1:247607394-247607394
GRCh38: 1:247444092-247444092
5 NLRP3 NM_004895.4(NLRP3):c.598G>A (p.Val200Met) SNV Likely benign 4371 rs121908147 GRCh37: 1:247587343-247587343
GRCh38: 1:247424041-247424041

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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