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 57 29 13 6 73
Auditory Neuropathy, X-Linked, 1, with Peripheral Sensory Neuropathy 57 75
Dfnx5 57 75
Aunx1 57 75
Auditory Neuropathy, X-Linked, 1, with Peripheral Sensory Neuropathy; Aunx1 57
X-Linked Auditory Neuropathy with Peripheral Sensory Neuropathy Type 1 59
X-Linked Hereditary Sensory and Autonomic Neuropathy with Deafness 59
X-Linked Hsan with Deafness 59
Deafness, X-Linked, Type 5 40
Deafness, X-Linked, 5 75

Characteristics:

Orphanet epidemiological data:

59
x-linked hereditary sensory and autonomic neuropathy with deafness
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
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: 59  
Rare neurological diseases


External Ids:

OMIM 57 300614
Orphanet 59 ORPHA139583
ICD10 via Orphanet 34 G60.8
MedGen 42 C1845095
MeSH 44 D006319
UMLS 73 C1845095

Summaries for Deafness, X-Linked 5

UniProtKB/Swiss-Prot : 75 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 tinnitus An important gene associated with Deafness, X-Linked 5 is AIFM1 (Apoptosis Inducing Factor Mitochondria Associated 1). Related phenotypes are tinnitus and hearing impairment

OMIM : 57 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
3 peripheral nervous system disease 9.9
4 auditory neuropathy spectrum disorder 9.9
5 combined oxidative phosphorylation deficiency 6 8.9 AIFM1 RAB33A

Graphical network of the top 20 diseases related to Deafness, X-Linked 5:



Diseases related to Deafness, X-Linked 5

Symptoms & Phenotypes for Deafness, X-Linked 5

Symptoms via clinical synopsis from OMIM:

57
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:

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

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 29 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:

75
# 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 34)
# 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.1678T> C (p.Tyr560His) single nucleotide variant Likely pathogenic rs724160024 GRCh37 Chromosome X, 129264037: 129264037
3 AIFM1 NM_004208.3(AIFM1): c.1492G> A (p.Val498Met) single nucleotide variant Likely pathogenic rs724160023 GRCh38 Chromosome X, 130131756: 130131756
4 AIFM1 NM_004208.3(AIFM1): c.1492G> A (p.Val498Met) single nucleotide variant Likely pathogenic rs724160023 GRCh37 Chromosome X, 129265731: 129265731
5 AIFM1 NM_004208.3(AIFM1): c.1424C> T (p.Pro475Leu) single nucleotide variant Likely pathogenic rs724160022 GRCh38 Chromosome X, 130133337: 130133337
6 AIFM1 NM_004208.3(AIFM1): c.1424C> T (p.Pro475Leu) single nucleotide variant Likely pathogenic rs724160022 GRCh37 Chromosome X, 129267312: 129267312
7 AIFM1 NM_004208.3(AIFM1): c.1319C> T (p.Ala440Val) single nucleotide variant Likely pathogenic rs724160025 GRCh38 Chromosome X, 130133442: 130133442
8 AIFM1 NM_004208.3(AIFM1): c.1319C> T (p.Ala440Val) single nucleotide variant Likely pathogenic rs724160025 GRCh37 Chromosome X, 129267417: 129267417
9 AIFM1 NM_004208.3(AIFM1): c.1265G> A (p.Arg422Gln) single nucleotide variant Pathogenic/Likely pathogenic rs724160021 GRCh38 Chromosome X, 130136085: 130136085
10 AIFM1 NM_004208.3(AIFM1): c.1265G> A (p.Arg422Gln) single nucleotide variant Pathogenic/Likely pathogenic rs724160021 GRCh37 Chromosome X, 129270060: 129270060
11 AIFM1 NM_004208.3(AIFM1): c.1264C> T (p.Arg422Trp) single nucleotide variant Pathogenic/Likely pathogenic rs724160020 GRCh38 Chromosome X, 130136086: 130136086
12 AIFM1 NM_004208.3(AIFM1): c.1264C> T (p.Arg422Trp) single nucleotide variant Pathogenic/Likely pathogenic rs724160020 GRCh37 Chromosome X, 129270061: 129270061
13 AIFM1 NM_004208.3(AIFM1): c.1113C> T (p.Ser371=) single nucleotide variant Likely benign rs724160027 GRCh38 Chromosome X, 130136694: 130136694
14 AIFM1 NM_004208.3(AIFM1): c.1113C> T (p.Ser371=) single nucleotide variant Likely benign rs724160027 GRCh37 Chromosome X, 129270669: 129270669
15 AIFM1 NM_004208.3(AIFM1): c.1097A> G (p.Asn366Ser) single nucleotide variant Likely pathogenic rs724160019 GRCh38 Chromosome X, 130136710: 130136710
16 AIFM1 NM_004208.3(AIFM1): c.1097A> G (p.Asn366Ser) single nucleotide variant Likely pathogenic rs724160019 GRCh37 Chromosome X, 129270685: 129270685
17 AIFM1 NM_004208.3(AIFM1): c.1078G> C (p.Gly360Arg) single nucleotide variant Likely pathogenic rs724160026 GRCh38 Chromosome X, 130136729: 130136729
18 AIFM1 NM_004208.3(AIFM1): c.1078G> C (p.Gly360Arg) single nucleotide variant Likely pathogenic rs724160026 GRCh37 Chromosome X, 129270704: 129270704
19 AIFM1 NM_004208.3(AIFM1): c.1030C> T (p.Leu344Phe) single nucleotide variant Pathogenic/Likely pathogenic rs184474885 GRCh38 Chromosome X, 130137123: 130137123
20 AIFM1 NM_004208.3(AIFM1): c.1030C> T (p.Leu344Phe) single nucleotide variant Pathogenic/Likely pathogenic rs184474885 GRCh37 Chromosome X, 129271098: 129271098
21 AIFM1 NM_004208.3(AIFM1): c.860T> C (p.Ile287Thr) single nucleotide variant Likely pathogenic rs724160018 GRCh38 Chromosome X, 130138700: 130138700
22 AIFM1 NM_004208.3(AIFM1): c.860T> C (p.Ile287Thr) single nucleotide variant Likely pathogenic rs724160018 GRCh37 Chromosome X, 129272675: 129272675
23 AIFM1 NM_004208.3(AIFM1): c.845C> T (p.Thr282Met) single nucleotide variant Likely pathogenic rs724160017 GRCh38 Chromosome X, 130139808: 130139808
24 AIFM1 NM_004208.3(AIFM1): c.845C> T (p.Thr282Met) single nucleotide variant Likely pathogenic rs724160017 GRCh37 Chromosome X, 129273783: 129273783
25 AIFM1 NM_004208.3(AIFM1): c.572_573delTGinsCT (p.Leu191Pro) indel Likely pathogenic rs724160016 GRCh38 Chromosome X, 130147525: 130147526
26 AIFM1 NM_004208.3(AIFM1): c.572_573delTGinsCT (p.Leu191Pro) indel Likely pathogenic rs724160016 GRCh37 Chromosome X, 129281500: 129281501
27 AIFM1 NM_004208.3(AIFM1): c.434C> T (p.Ala145Val) single nucleotide variant Likely pathogenic rs724160015 GRCh38 Chromosome X, 130147792: 130147792
28 AIFM1 NM_004208.3(AIFM1): c.434C> T (p.Ala145Val) single nucleotide variant Likely pathogenic rs724160015 GRCh37 Chromosome X, 129281767: 129281767
29 AIFM1 NM_004208.3(AIFM1): c.-123G> C single nucleotide variant Likely pathogenic rs724160014 GRCh38 Chromosome X, 130165779: 130165779
30 AIFM1 NM_004208.3(AIFM1): c.-123G> C single nucleotide variant Likely pathogenic rs724160014 GRCh37 Chromosome X, 129299753: 129299753
31 AIFM1 NM_004208.3(AIFM1): c.1352G> A (p.Arg451Gln) single nucleotide variant Pathogenic rs863225431 GRCh37 Chromosome X, 129267384: 129267384
32 AIFM1 NM_004208.3(AIFM1): c.1352G> A (p.Arg451Gln) single nucleotide variant Pathogenic rs863225431 GRCh38 Chromosome X, 130133409: 130133409
33 AIFM1 NM_004208.3(AIFM1): c.778A> G (p.Thr260Ala) single nucleotide variant Pathogenic rs863225432 GRCh37 Chromosome X, 129274511: 129274511
34 AIFM1 NM_004208.3(AIFM1): c.778A> G (p.Thr260Ala) single nucleotide variant Pathogenic rs863225432 GRCh38 Chromosome X, 130140536: 130140536

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

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17 ExPASy
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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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