DFNX5
MCID: DFN105
MIFTS: 30

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 56 52 29 13 6 71
X-Linked Auditory Neuropathy with Peripheral Sensory Neuropathy Type 1 52 58
Auditory Neuropathy, X-Linked, 1, with Peripheral Sensory Neuropathy 56 73
X-Linked Hereditary Sensory and Autonomic Neuropathy with Deafness 52 58
X-Linked Hsan with Deafness 52 58
Dfnx5 56 73
Aunx1 56 73
Auditory Neuropathy, X-Linked, 1, with Peripheral Sensory Neuropathy; Aunx1 56
Deafness, X-Linked, Type 5 39
Deafness, X-Linked, 5 73

Characteristics:

Orphanet epidemiological data:

58
x-linked hereditary sensory and autonomic neuropathy with deafness
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Miscellaneous:
slowly progressive
onset of hearing loss prior to or during adolescence
peripheral neuropathy occurs in adulthood

Inheritance:
x-linked recessive


HPO:

31
deafness, x-linked 5:
Onset and clinical course slow progression
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM 56 300614
OMIM Phenotypic Series 56 PS304500 PS609129
MeSH 43 D006319
ICD10 via Orphanet 33 G60.8
Orphanet 58 ORPHA139583
MedGen 41 C1845095
UMLS 71 C1845095

Summaries for Deafness, X-Linked 5

UniProtKB/Swiss-Prot : 73 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 x-linked auditory neuropathy with peripheral sensory neuropathy type 1, is related to neuropathy and auditory neuropathy spectrum disorder, 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 areflexia

OMIM : 56 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:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 HP:0000365
2 areflexia 31 HP:0001284
3 sensory axonal neuropathy 31 HP:0003390
4 tinnitus 31 HP:0000360
5 unsteady gait 31 HP:0002317
6 distal sensory impairment 31 HP:0002936
7 abnormal speech discrimination 31 HP:0001963
8 abnormal middle ear reflexes 31 HP:0004454

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
tinnitus
abnormal speech discrimination
abnormal middle ear reflexes
hearing loss, progressive
loss of outer hair cell function
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 29 AIFM1

Anatomical Context for Deafness, X-Linked 5

Publications for Deafness, X-Linked 5

Articles related to Deafness, X-Linked 5:

(show all 16)
# Title Authors PMID Year
1
Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder. 6 56
25986071 2015
2
AUNX1, a novel locus responsible for X linked recessive auditory and peripheral neuropathy, maps to Xq23-27.3. 56 6
16816020 2006
3
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. 6
24651602 2014
4
Co-segregation of the T1095C with the A1555G mutation of the mitochondrial 12S rRNA gene in a patient with non-syndromic hearing loss. 6
18983818 2008
5
Sex-linked deafness. 56
18005182 2008
6
A reappraisal of complete mtDNA variation in East Asian families with hearing impairment. 6
16528519 2006
7
Clinical and molecular characterization of a Chinese patient with auditory neuropathy associated with mitochondrial 12S rRNA T1095C mutation. 6
15637703 2005
8
Clinical evaluation and sequence analysis of the complete mitochondrial genome of three Chinese patients with hearing impairment associated with the 12S rRNA T1095C mutation. 6
15555598 2004
9
A dominantly inherited progressive deafness affecting distal auditory nerve and hair cells. 56
15675004 2004
10
Familial auditory neuropathy. 56
12972945 2003
11
Maternally inherited deafness associated with a T1095C mutation in the mDNA. 6
11313749 2001
12
A novel mitochondrial 12SrRNA point mutation in parkinsonism, deafness, and neuropathy. 6
11079536 2000
13
The varieties of auditory neuropathy. 56
11041385 2000
14
Abnormal auditory evoked potentials in hereditary motor-sensory neuropathy. 56
223494 1979
15
X-Linked Sensorineural Hearing Loss: A Literature Review. 61
30065609 2018
16
Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease. 61
27102849 2017

Variations for Deafness, X-Linked 5

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

6 (show all 18) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 AIFM1 NM_004208.4(AIFM1):c.1352G>A (p.Arg451Gln)SNV Pathogenic 218108 rs863225431 X:129267384-129267384 X:130133409-130133409
2 AIFM1 NM_004208.4(AIFM1):c.778A>G (p.Thr260Ala)SNV Pathogenic 218110 rs863225432 X:129274511-129274511 X:130140536-130140536
3 AIFM1 NM_004208.4(AIFM1):c.1030C>T (p.Leu344Phe)SNV Pathogenic/Likely pathogenic 162477 rs184474885 X:129271098-129271098 X:130137123-130137123
4 AIFM1 NM_004208.4(AIFM1):c.1265G>A (p.Arg422Gln)SNV Pathogenic/Likely pathogenic 162480 rs724160021 X:129270060-129270060 X:130136085-130136085
5 AIFM1 NM_004208.4(AIFM1):c.1264C>T (p.Arg422Trp)SNV Pathogenic/Likely pathogenic 162479 rs724160020 X:129270061-129270061 X:130136086-130136086
6 AIFM1 NM_004208.4(AIFM1):c.1097A>G (p.Asn366Ser)SNV Likely pathogenic 162478 rs724160019 X:129270685-129270685 X:130136710-130136710
7 AIFM1 NM_004208.4(AIFM1):c.1078G>C (p.Gly360Arg)SNV Likely pathogenic 162485 rs724160026 X:129270704-129270704 X:130136729-130136729
8 AIFM1 NM_004208.4(AIFM1):c.1678T>C (p.Tyr560His)SNV Likely pathogenic 162483 rs724160024 X:129264037-129264037 X:130130062-130130062
9 AIFM1 NM_004208.4(AIFM1):c.1492G>A (p.Val498Met)SNV Likely pathogenic 162482 rs724160023 X:129265731-129265731 X:130131756-130131756
10 AIFM1 NM_004208.4(AIFM1):c.1424C>T (p.Pro475Leu)SNV Likely pathogenic 162481 rs724160022 X:129267312-129267312 X:130133337-130133337
11 AIFM1 NM_004208.4(AIFM1):c.1319C>T (p.Ala440Val)SNV Likely pathogenic 162484 rs724160025 X:129267417-129267417 X:130133442-130133442
12 AIFM1 NM_004208.4(AIFM1):c.860T>C (p.Ile287Thr)SNV Likely pathogenic 162476 rs724160018 X:129272675-129272675 X:130138700-130138700
13 AIFM1 NM_004208.4(AIFM1):c.845C>T (p.Thr282Met)SNV Likely pathogenic 162475 rs724160017 X:129273783-129273783 X:130139808-130139808
14 AIFM1 NM_004208.4(AIFM1):c.572_573delinsCT (p.Leu191Pro)indel Likely pathogenic 162474 rs724160016 X:129281500-129281501 X:130147525-130147526
15 AIFM1 NM_004208.4(AIFM1):c.434C>T (p.Ala145Val)SNV Likely pathogenic 162473 rs724160015 X:129281767-129281767 X:130147792-130147792
16 AIFM1 NM_004208.4(AIFM1):c.-123G>CSNV Likely pathogenic 162472 rs724160014 X:129299753-129299753 X:130165779-130165779
17 AIFM1 NM_004208.4(AIFM1):c.170C>G (p.Ser57Cys)SNV Uncertain significance 445310 rs201711375 X:129290514-129290514 X:130156540-130156540
18 AIFM1 NM_004208.4(AIFM1):c.1113C>T (p.Ser371=)SNV Likely benign 162486 rs724160027 X:129270669-129270669 X:130136694-130136694

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

73
# 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

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
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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