MCID: DFN105
MIFTS: 25

Deafness, X-Linked 5

Categories: Genetic diseases, Ear diseases, Rare diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Deafness, X-Linked 5

MalaCards integrated aliases for Deafness, X-Linked 5:

Name: Deafness, X-Linked 5 53 28 13 69
Auditory Neuropathy, X-Linked, 1, with Peripheral Sensory Neuropathy 53 71
Dfnx5 53 71
Aunx1 53 71
Auditory Neuropathy, X-Linked, 1, with Peripheral Sensory Neuropathy; Aunx1 53
X-Linked Auditory Neuropathy with Peripheral Sensory Neuropathy Type 1 55
X-Linked Hereditary Sensory and Autonomic Neuropathy with Deafness 55
X-Linked Hsan with Deafness 55
Deafness, X-Linked, 5 71

Characteristics:

Orphanet epidemiological data:

55
x-linked hereditary sensory and autonomic neuropathy with deafness
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

53
Inheritance:
x-linked recessive

Miscellaneous:
onset of hearing loss prior to or during adolescence
peripheral neuropathy occurs in adulthood
slowly progressive moleculr basis : caused by mutation in the apoptosis-inducing factor, mitochondrion-associated, 1 gene (aifm1, )


HPO:

31
deafness, x-linked 5:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

OMIM 53 300614
Orphanet 55 ORPHA139583
ICD10 via Orphanet 33 G60.8
MedGen 39 C1845095
MeSH 41 D006319
UMLS 69 C1845095

Summaries for Deafness, X-Linked 5

UniProtKB/Swiss-Prot : 71 Deafness, X-linked, 5: A form of hearing loss characterized by absent or severely abnormal auditory brainstem response, abnormal middle ear reflexes, abnormal speech discrimination, loss of outer hair cell function, and cochlear nerve hypoplasia. DFNX5 patients manifest auditory neuropathy with childhood onset, associated with distal sensory impairment affecting the peripheral nervous system.

MalaCards based summary : Deafness, X-Linked 5, also known as auditory neuropathy, x-linked, 1, with peripheral sensory neuropathy, is related to x-linked hereditary sensory and autonomic neuropathy with deafness and neuropathy, and has symptoms including hearing impairment, sensory axonal neuropathy and tinnitus. An important gene associated with Deafness, X-Linked 5 is AIFM1 (Apoptosis Inducing Factor Mitochondria Associated 1).

OMIM : 53 X-linked deafness-5 is a neurologic disorder characterized by childhood onset of auditory neuropathy and later onset of distal sensory impairment affecting the peripheral nervous system (summary by Zong et al., 2015). (300614)

Related Diseases for Deafness, X-Linked 5

Diseases in the X-Linked Nonsyndromic Deafness family:

Deafness, X-Linked 3 Deafness, X-Linked 4
Deafness, X-Linked 5 Deafness, X-Linked 6
Deafness, X-Linked 2 Deafness, X-Linked 1
Deafness, Y-Linked 1

Diseases related to Deafness, X-Linked 5 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 x-linked hereditary sensory and autonomic neuropathy with deafness 11.2
2 neuropathy 10.1

Symptoms & Phenotypes for Deafness, X-Linked 5

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Ears:
tinnitus
hearing loss, progressive
loss of outer hair cell function
decreased otoacoustic emission amplitude
abnormal auditory brainstem responses
more
Neurologic Peripheral Nervous System:
unsteady gait
distal sensory impairment
hypo- or areflexia
peripheral sensory axonal neuropathy
decreased or absent sensory nerve conduction velocities
more

Clinical features from OMIM:

300614

Human phenotypes related to Deafness, X-Linked 5:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 HP:0000365
2 sensory axonal neuropathy 31 HP:0003390
3 tinnitus 31 HP:0000360
4 unsteady gait 31 HP:0002317
5 distal sensory impairment 31 HP:0002936
6 abnormal middle ear reflexes 31 HP:0004454
7 abnormal speech discrimination 31 HP:0001963

UMLS symptoms related to Deafness, X-Linked 5:


tinnitus

Drugs & Therapeutics for Deafness, X-Linked 5

Search Clinical Trials , NIH Clinical Center for Deafness, X-Linked 5

Genetic Tests for Deafness, X-Linked 5

Genetic tests related to Deafness, X-Linked 5:

# Genetic test Affiliating Genes
1 Deafness, X-Linked 5 28 AIFM1

Anatomical Context for Deafness, X-Linked 5

Publications for Deafness, X-Linked 5

Articles related to Deafness, X-Linked 5:

# Title Authors Year
1
[Analyzing GRIA3 gene mutations located in AUNX1 locus in a Chinese pedigree with auditory neuropathy]. ( 20564826 )
2010
2
AUNX1, a novel locus responsible for X linked recessive auditory and peripheral neuropathy, maps to Xq23-27.3. ( 16816020 )
2006

Variations for Deafness, X-Linked 5

UniProtKB/Swiss-Prot genetic disease variations for Deafness, X-Linked 5:

71
# Symbol AA change Variation ID SNP ID
1 AIFM1 p.Thr260Ala VAR_076211 rs863225432
2 AIFM1 p.Arg422Gln VAR_076214 rs724160021
3 AIFM1 p.Arg422Trp VAR_076215 rs724160020
4 AIFM1 p.Arg451Gln VAR_076217 rs863225431

ClinVar genetic disease variations for Deafness, X-Linked 5:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 AIFM1 NM_004208.3(AIFM1): c.1678T> C (p.Tyr560His) single nucleotide variant Likely pathogenic rs724160024 GRCh38 Chromosome X, 130130062: 130130062
2 AIFM1 NM_004208.3(AIFM1): c.1492G> A (p.Val498Met) single nucleotide variant Likely pathogenic rs724160023 GRCh38 Chromosome X, 130131756: 130131756
3 AIFM1 NM_004208.3(AIFM1): c.1424C> T (p.Pro475Leu) single nucleotide variant Likely pathogenic rs724160022 GRCh38 Chromosome X, 130133337: 130133337
4 AIFM1 NM_004208.3(AIFM1): c.1319C> T (p.Ala440Val) single nucleotide variant Likely pathogenic rs724160025 GRCh38 Chromosome X, 130133442: 130133442
5 AIFM1 NM_004208.3(AIFM1): c.1265G> A (p.Arg422Gln) single nucleotide variant Pathogenic/Likely pathogenic rs724160021 GRCh38 Chromosome X, 130136085: 130136085
6 AIFM1 NM_004208.3(AIFM1): c.1264C> T (p.Arg422Trp) single nucleotide variant Pathogenic/Likely pathogenic rs724160020 GRCh38 Chromosome X, 130136086: 130136086
7 AIFM1 NM_004208.3(AIFM1): c.1097A> G (p.Asn366Ser) single nucleotide variant Likely pathogenic rs724160019 GRCh38 Chromosome X, 130136710: 130136710
8 AIFM1 NM_004208.3(AIFM1): c.1078G> C (p.Gly360Arg) single nucleotide variant Likely pathogenic rs724160026 GRCh38 Chromosome X, 130136729: 130136729
9 AIFM1 NM_004208.3(AIFM1): c.1030C> T (p.Leu344Phe) single nucleotide variant Pathogenic/Likely pathogenic rs184474885 GRCh38 Chromosome X, 130137123: 130137123
10 AIFM1 NM_004208.3(AIFM1): c.860T> C (p.Ile287Thr) single nucleotide variant Likely pathogenic rs724160018 GRCh38 Chromosome X, 130138700: 130138700
11 AIFM1 NM_004208.3(AIFM1): c.845C> T (p.Thr282Met) single nucleotide variant Likely pathogenic rs724160017 GRCh38 Chromosome X, 130139808: 130139808
12 AIFM1 NM_004208.3(AIFM1): c.572_573delTGinsCT (p.Leu191Pro) indel Likely pathogenic rs724160016 GRCh38 Chromosome X, 130147525: 130147526
13 AIFM1 NM_004208.3(AIFM1): c.434C> T (p.Ala145Val) single nucleotide variant Likely pathogenic rs724160015 GRCh38 Chromosome X, 130147792: 130147792
14 AIFM1 NM_004208.3(AIFM1): c.-123G> C single nucleotide variant Likely pathogenic rs724160014 GRCh38 Chromosome X, 130165779: 130165779
15 AIFM1 NM_004208.3(AIFM1): c.1352G> A (p.Arg451Gln) single nucleotide variant Pathogenic rs863225431 GRCh37 Chromosome X, 129267384: 129267384
16 AIFM1 NM_004208.3(AIFM1): c.778A> G (p.Thr260Ala) single nucleotide variant Pathogenic rs863225432 GRCh37 Chromosome X, 129274511: 129274511

Expression for Deafness, X-Linked 5

Search GEO for disease gene expression data for Deafness, X-Linked 5.

Pathways for Deafness, X-Linked 5

GO Terms for Deafness, X-Linked 5

Sources for Deafness, X-Linked 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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