MCID: DFN105
MIFTS: 25

Deafness, X-Linked 5

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

Aliases & Classifications for Deafness, X-Linked 5

MalaCards integrated aliases for Deafness, X-Linked 5:

Name: Deafness, X-Linked 5 54 24 29 13 69
Dfnx5 24 71
Aunx1 24 71
X-Linked Auditory Neuropathy with Peripheral Sensory Neuropathy Type 1 56
Auditory Neuropathy, X-Linked, 1, with Peripheral Sensory Neuropathy 71
Auditory Neuropathy, X-Linked 1, with Peripheral Sensory Neuropathy 24
X-Linked Hereditary Sensory and Autonomic Neuropathy with Deafness 56
X-Linked Hsan with Deafness 56
Deafness, X-Linked, 5 71

Characteristics:

Orphanet epidemiological data:

56
x-linked hereditary sensory and autonomic neuropathy with deafness
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

54
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:

32
deafness, x-linked 5:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 56  
Rare neurological diseases


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 dfnx5, is related to auditory neuropathy and x-linked hereditary sensory and autonomic neuropathy with deafness, and has symptoms including distal sensory impairment, unsteady gait and tinnitus. An important gene associated with Deafness, X-Linked 5 is AIFM1 (Apoptosis Inducing Factor Mitochondria Associated 1).

OMIM : 54
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 4 Deafness, X-Linked 3
Deafness, X-Linked 2 Deafness, X-Linked 1
Deafness, X-Linked 6 Deafness, X-Linked 5
Deafness, Y-Linked 1

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

id Related Disease Score Top Affiliating Genes
1 auditory neuropathy 11.3
2 x-linked hereditary sensory and autonomic neuropathy with deafness 11.0
3 neuropathy 10.0
4 dent disease 2 9.5 AIFM1 DFN5

Symptoms & Phenotypes for Deafness, X-Linked 5

Symptoms via clinical synopsis from OMIM:

54

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

Clinical features from OMIM:

300614

Human phenotypes related to Deafness, X-Linked 5:

32 (show all 7)
id Description HPO Frequency HPO Source Accession
1 distal sensory impairment 32 HP:0002936
2 unsteady gait 32 HP:0002317
3 tinnitus 32 HP:0000360
4 hearing impairment 32 HP:0000365
5 sensory axonal neuropathy 32 HP:0003390
6 abnormal speech discrimination 32 HP:0001963
7 abnormal middle ear reflexes 32 HP:0004454

Drugs & Therapeutics for Deafness, X-Linked 5

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Deafness, X-Linked 5

Genetic Tests for Deafness, X-Linked 5

Genetic tests related to Deafness, X-Linked 5:

id Genetic test Affiliating Genes
1 Deafness, X-Linked 5 29 24 AIFM1

Anatomical Context for Deafness, X-Linked 5

Publications for Deafness, X-Linked 5

Variations for Deafness, X-Linked 5

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

71
id 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)
id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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