DFNX5
MCID: DFN105
MIFTS: 25

Deafness, X-Linked 5 (DFNX5)

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

Aliases & Classifications for Deafness, X-Linked 5

MalaCards integrated aliases for Deafness, X-Linked 5:

Name: Deafness, X-Linked 5 58 30 13 6 74
Auditory Neuropathy, X-Linked, 1, with Peripheral Sensory Neuropathy 58 76
Dfnx5 58 76
Aunx1 58 76
Auditory Neuropathy, X-Linked, 1, with Peripheral Sensory Neuropathy; Aunx1 58
X-Linked Auditory Neuropathy with Peripheral Sensory Neuropathy Type 1 60
X-Linked Hereditary Sensory and Autonomic Neuropathy with Deafness 60
X-Linked Hsan with Deafness 60
Deafness, X-Linked, Type 5 41
Deafness, X-Linked, 5 76

Characteristics:

Orphanet epidemiological data:

60
x-linked hereditary sensory and autonomic neuropathy with deafness
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Miscellaneous:
slowly progressive
onset of hearing loss prior to or during adolescence
peripheral neuropathy occurs in adulthood

Inheritance:
x-linked recessive


HPO:

33
deafness, x-linked 5:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

OMIM 58 300614
MeSH 45 D006319
ICD10 via Orphanet 35 G60.8
Orphanet 60 ORPHA139583
MedGen 43 C1845095
UMLS 74 C1845095

Summaries for Deafness, X-Linked 5

UniProtKB/Swiss-Prot : 76 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 perrault syndrome 1, 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 hearing impairment and sensory axonal neuropathy

OMIM : 58 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

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

Human phenotypes related to Deafness, X-Linked 5:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 33 HP:0000365
2 sensory axonal neuropathy 33 HP:0003390
3 areflexia 33 HP:0001284
4 tinnitus 33 HP:0000360
5 unsteady gait 33 HP:0002317
6 distal sensory impairment 33 HP:0002936
7 abnormal middle ear reflexes 33 HP:0004454
8 abnormal speech discrimination 33 HP:0001963

Symptoms via clinical synopsis from OMIM:

58
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

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 30 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:

76
# 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.860T> C (p.Ile287Thr) single nucleotide variant Likely pathogenic rs724160018 GRCh37 Chromosome X, 129272675: 129272675
2 AIFM1 NM_004208.3(AIFM1): c.1678T> C (p.Tyr560His) single nucleotide variant Likely pathogenic rs724160024 GRCh38 Chromosome X, 130130062: 130130062
3 AIFM1 NM_004208.3(AIFM1): c.1678T> C (p.Tyr560His) single nucleotide variant Likely pathogenic rs724160024 GRCh37 Chromosome X, 129264037: 129264037
4 AIFM1 NM_004208.3(AIFM1): c.1492G> A (p.Val498Met) single nucleotide variant Likely pathogenic rs724160023 GRCh38 Chromosome X, 130131756: 130131756
5 AIFM1 NM_004208.3(AIFM1): c.1492G> A (p.Val498Met) single nucleotide variant Likely pathogenic rs724160023 GRCh37 Chromosome X, 129265731: 129265731
6 AIFM1 NM_004208.3(AIFM1): c.1424C> T (p.Pro475Leu) single nucleotide variant Likely pathogenic rs724160022 GRCh38 Chromosome X, 130133337: 130133337
7 AIFM1 NM_004208.3(AIFM1): c.1424C> T (p.Pro475Leu) single nucleotide variant Likely pathogenic rs724160022 GRCh37 Chromosome X, 129267312: 129267312
8 AIFM1 NM_004208.3(AIFM1): c.1319C> T (p.Ala440Val) single nucleotide variant Likely pathogenic rs724160025 GRCh38 Chromosome X, 130133442: 130133442
9 AIFM1 NM_004208.3(AIFM1): c.1319C> T (p.Ala440Val) single nucleotide variant Likely pathogenic rs724160025 GRCh37 Chromosome X, 129267417: 129267417
10 AIFM1 NM_004208.3(AIFM1): c.1265G> A (p.Arg422Gln) single nucleotide variant Pathogenic/Likely pathogenic rs724160021 GRCh38 Chromosome X, 130136085: 130136085
11 AIFM1 NM_004208.3(AIFM1): c.1265G> A (p.Arg422Gln) single nucleotide variant Pathogenic/Likely pathogenic rs724160021 GRCh37 Chromosome X, 129270060: 129270060
12 AIFM1 NM_004208.3(AIFM1): c.1264C> T (p.Arg422Trp) single nucleotide variant Pathogenic/Likely pathogenic rs724160020 GRCh38 Chromosome X, 130136086: 130136086
13 AIFM1 NM_004208.3(AIFM1): c.1264C> T (p.Arg422Trp) single nucleotide variant Pathogenic/Likely pathogenic rs724160020 GRCh37 Chromosome X, 129270061: 129270061
14 AIFM1 NM_004208.3(AIFM1): c.1113C> T (p.Ser371=) single nucleotide variant Likely benign rs724160027 GRCh38 Chromosome X, 130136694: 130136694
15 AIFM1 NM_004208.3(AIFM1): c.1113C> T (p.Ser371=) single nucleotide variant Likely benign rs724160027 GRCh37 Chromosome X, 129270669: 129270669
16 AIFM1 NM_004208.3(AIFM1): c.1097A> G (p.Asn366Ser) single nucleotide variant Likely pathogenic rs724160019 GRCh38 Chromosome X, 130136710: 130136710
17 AIFM1 NM_004208.3(AIFM1): c.1097A> G (p.Asn366Ser) single nucleotide variant Likely pathogenic rs724160019 GRCh37 Chromosome X, 129270685: 129270685
18 AIFM1 NM_004208.3(AIFM1): c.1078G> C (p.Gly360Arg) single nucleotide variant Likely pathogenic rs724160026 GRCh38 Chromosome X, 130136729: 130136729
19 AIFM1 NM_004208.3(AIFM1): c.1078G> C (p.Gly360Arg) single nucleotide variant Likely pathogenic rs724160026 GRCh37 Chromosome X, 129270704: 129270704
20 AIFM1 NM_004208.3(AIFM1): c.1030C> T (p.Leu344Phe) single nucleotide variant Pathogenic/Likely pathogenic rs184474885 GRCh38 Chromosome X, 130137123: 130137123
21 AIFM1 NM_004208.3(AIFM1): c.1030C> T (p.Leu344Phe) single nucleotide variant Pathogenic/Likely pathogenic rs184474885 GRCh37 Chromosome X, 129271098: 129271098
22 AIFM1 NM_004208.3(AIFM1): c.860T> C (p.Ile287Thr) single nucleotide variant Likely pathogenic rs724160018 GRCh38 Chromosome X, 130138700: 130138700
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

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
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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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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