DFNX5
MCID: DFN380
MIFTS: 37

Deafness, X-Linked 5, with Peripheral Neuropathy (DFNX5)

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

Aliases & Classifications for Deafness, X-Linked 5, with Peripheral Neuropathy

MalaCards integrated aliases for Deafness, X-Linked 5, with Peripheral Neuropathy:

Name: Deafness, X-Linked 5, with Peripheral Neuropathy 56
Deafness, X-Linked 5 56 29 13 6
Dfnx5 56 12 73
Aunx1 56 12 73
X-Linked Auditory Neuropathy with Peripheral Sensory Neuropathy Type 1 12 58
Auditory Neuropathy, X-Linked, 1, with Peripheral Sensory Neuropathy 56 73
X-Linked Hsan with Deafness 12 58
X-Linked Deafness 5 12 15
Auditory Neuropathy, X-Linked, 1, with Peripheral Sensory Neuropathy; Aunx1 56
X-Linked Hereditary Sensory and Autonomic Neuropathy with Hearing Loss 58
X-Linked Hereditary Sensory and Autonomic Neuropathy with Deafness 58
X-Linked Auditory Neuropathy 1 with Peripheral Sensory Neuropathy 12
X-Linked Hsan with Hearing Loss 58
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, with peripheral neuropathy:
Onset and clinical course slow progression
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0111741
OMIM 56 300614
OMIM Phenotypic Series 56 PS304500 PS609129
MeSH 43 D006319
ICD10 via Orphanet 33 G60.8
Orphanet 58 ORPHA139583
MedGen 41 C1845095

Summaries for Deafness, X-Linked 5, with Peripheral Neuropathy

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, with Peripheral Neuropathy, also known as deafness, x-linked 5, is related to auditory neuropathy spectrum disorder and branchiootic syndrome 1, and has symptoms including tinnitus An important gene associated with Deafness, X-Linked 5, with Peripheral Neuropathy is AIFM1 (Apoptosis Inducing Factor Mitochondria Associated 1), and among its related pathways/superpathways is Pentose phosphate pathway. Related phenotypes are hearing impairment and areflexia

Disease Ontology : 12 A neuropathy characterized by childhood onset of auditory neuropathy and later onset of distal sensory impairment due to diffuse peripheral neuropathy that has material basis in hemizygous or homozygous mutation in AIFM1 on chromosome Xq26.1.

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, with Peripheral Neuropathy

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

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 auditory neuropathy spectrum disorder 30.4 PJVK OTOF AIFM1
2 branchiootic syndrome 1 30.1 PJVK OTOF
3 neuropathy 29.6 PRPS1 OTOF DIAPH3 AIFM1
4 autosomal dominant nonsyndromic deafness 28.6 SMPX POU3F4 PJVK OTOF DIAPH3
5 x-linked hereditary sensory and autonomic neuropathy with deafness 11.5
6 deafness, autosomal recessive 8 10.2 PJVK OTOF
7 deafness, autosomal recessive 85 10.2 PJVK OTOF
8 sensory peripheral neuropathy 10.2
9 peripheral nervous system disease 10.2
10 nonsyndromic deafness 10.2
11 deafness, autosomal recessive 59 10.2 PJVK OTOF
12 deafness, autosomal recessive 9 10.1 PJVK OTOF
13 deafness, autosomal recessive 93 10.1 PJVK OTOF
14 deafness, autosomal recessive 83 10.1 PJVK OTOF
15 autosomal recessive nonsyndromic deafness 10.1 PJVK OTOF
16 autosomal recessive nonsyndromic deafness 3 10.1 PJVK OTOF
17 deafness, autosomal recessive 2 10.1 PJVK OTOF
18 deafness, autosomal recessive 22 10.1 PJVK OTOF
19 deafness, autosomal recessive 7 10.1 PJVK OTOF
20 deafness, autosomal recessive 1a 10.0 PJVK OTOF
21 charcot-marie-tooth disease, x-linked dominant, 6 10.0 SMPX PRPS1
22 y-linked deafness 9.8 POU3F4 OTOF
23 y-linked monogenic disease 9.8 POU3F4 OTOF
24 usher syndrome, type i 9.8 SMPX PJVK OTOF
25 deafness, autosomal recessive 1b 9.8 SMPX POU3F4
26 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.8 PJVK OTOF
27 deafness, autosomal recessive 49 9.8 POU3F4 PJVK
28 auditory neuropathy, autosomal dominant, 1 9.8 PJVK OTOF DIAPH3
29 charcot-marie-tooth disease x-linked recessive 4 9.8 PRPS1 PJVK AIFM1
30 phosphoribosylpyrophosphate synthetase superactivity 9.8 PRPS1L1 PRPS1
31 purine-pyrimidine metabolic disorder 9.8 PRPS1L1 PRPS1
32 x-linked non-syndromic sensorineural deafness type dfn 9.7 SMPX PRPS1 COL4A6
33 nonsyndromic hearing loss 9.7 PRPS1 PJVK OTOF
34 mohr-tranebjaerg syndrome 9.7 SMPX POU3F4
35 vestibular disease 9.7 POU3F4 OTOF
36 charcot-marie-tooth disease type x 9.7 PRPS1L1 PRPS1 AIFM1
37 otosclerosis 9.7 PJVK OTOF
38 lesch-nyhan syndrome 9.6 PRPS1L1 PRPS1
39 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.6 POU3F4 PJVK OTOF
40 rare genetic deafness 9.5 POU3F4 PJVK OTOF
41 hereditary hearing loss and deafness 9.4 SMPX PRPS1 POU3F4
42 auditory system disease 9.3 SMPX POU3F4 PJVK OTOF
43 arts syndrome 9.3 PRPS1L1 PRPS1 POU3F4
44 charcot-marie-tooth disease, x-linked recessive, 5 9.1 SMPX PRPS1L1 PRPS1 POU3F4
45 deafness, x-linked 1 8.5 SMPX PRPS1L1 PRPS1 POU3F4 COL4A6 AIFM1
46 deafness, x-linked 6 8.5 SMPX PRPS1L1 PRPS1 POU3F4 COL4A6 AIFM1
47 deafness, x-linked 4 8.5 SMPX PRPS1L1 PRPS1 POU3F4 COL4A6 AIFM1
48 deafness, x-linked 3 8.5 SMPX PRPS1L1 PRPS1 POU3F4 COL4A6 AIFM1
49 deafness, x-linked 2 8.5 SMPX PRPS1L1 PRPS1 POU3F4 COL4A6 AIFM1
50 sensorineural hearing loss 8.4 SMPX PRPS1 POU3F4 OTOF DIAPH3 COL4A6

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



Diseases related to Deafness, X-Linked 5, with Peripheral Neuropathy

Symptoms & Phenotypes for Deafness, X-Linked 5, with Peripheral Neuropathy

Human phenotypes related to Deafness, X-Linked 5, with Peripheral Neuropathy:

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

Symptoms via clinical synopsis from OMIM:

56
Neurologic Peripheral Nervous System:
unsteady gait
distal sensory impairment
hypo- or areflexia
peripheral sensory axonal neuropathy
decreased or absent sensory nerve conduction velocities
more
Head And Neck Ears:
tinnitus
abnormal speech discrimination
abnormal middle ear reflexes
hearing loss, progressive
loss of outer hair cell function
more

Clinical features from OMIM:

300614

UMLS symptoms related to Deafness, X-Linked 5, with Peripheral Neuropathy:


tinnitus

Drugs & Therapeutics for Deafness, X-Linked 5, with Peripheral Neuropathy

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

Genetic Tests for Deafness, X-Linked 5, with Peripheral Neuropathy

Genetic tests related to Deafness, X-Linked 5, with Peripheral Neuropathy:

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

Anatomical Context for Deafness, X-Linked 5, with Peripheral Neuropathy

Publications for Deafness, X-Linked 5, with Peripheral Neuropathy

Articles related to Deafness, X-Linked 5, with Peripheral Neuropathy:

(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, with Peripheral Neuropathy

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

6 (show all 20) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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.1265G>A (p.Arg422Gln)SNV Pathogenic/Likely pathogenic 162480 rs724160021 X:129270060-129270060 X:130136085-130136085
4 AIFM1 NM_004208.4(AIFM1):c.1264C>T (p.Arg422Trp)SNV Pathogenic/Likely pathogenic 162479 rs724160020 X:129270061-129270061 X:130136086-130136086
5 AIFM1 NM_004208.4(AIFM1):c.1678T>C (p.Tyr560His)SNV Likely pathogenic 162483 rs724160024 X:129264037-129264037 X:130130062-130130062
6 AIFM1 NM_004208.4(AIFM1):c.1492G>A (p.Val498Met)SNV Likely pathogenic 162482 rs724160023 X:129265731-129265731 X:130131756-130131756
7 AIFM1 NM_004208.4(AIFM1):c.1424C>T (p.Pro475Leu)SNV Likely pathogenic 162481 rs724160022 X:129267312-129267312 X:130133337-130133337
8 AIFM1 NM_004208.4(AIFM1):c.1319C>T (p.Ala440Val)SNV Likely pathogenic 162484 rs724160025 X:129267417-129267417 X:130133442-130133442
9 AIFM1 NM_004208.4(AIFM1):c.1097A>G (p.Asn366Ser)SNV Likely pathogenic 162478 rs724160019 X:129270685-129270685 X:130136710-130136710
10 AIFM1 NM_004208.4(AIFM1):c.1078G>C (p.Gly360Arg)SNV Likely pathogenic 162485 rs724160026 X:129270704-129270704 X:130136729-130136729
11 AIFM1 NM_004208.4(AIFM1):c.860T>C (p.Ile287Thr)SNV Likely pathogenic 162476 rs724160018 X:129272675-129272675 X:130138700-130138700
12 AIFM1 NM_004208.4(AIFM1):c.845C>T (p.Thr282Met)SNV Likely pathogenic 162475 rs724160017 X:129273783-129273783 X:130139808-130139808
13 AIFM1 NM_004208.4(AIFM1):c.572_573delinsCT (p.Leu191Pro)indel Likely pathogenic 162474 rs724160016 X:129281500-129281501 X:130147525-130147526
14 AIFM1 NM_004208.4(AIFM1):c.434C>T (p.Ala145Val)SNV Likely pathogenic 162473 rs724160015 X:129281767-129281767 X:130147792-130147792
15 AIFM1 NM_004208.4(AIFM1):c.-123G>CSNV Likely pathogenic 162472 rs724160014 X:129299753-129299753 X:130165779-130165779
16 AIFM1 NM_004208.4(AIFM1):c.170C>G (p.Ser57Cys)SNV Uncertain significance 445310 rs201711375 X:129290514-129290514 X:130156540-130156540
17 AIFM1 NM_004208.4(AIFM1):c.1241T>C (p.Ile414Thr)SNV Uncertain significance 804085 X:129270084-129270084 X:130136109-130136109
18 AIFM1 NM_004208.4(AIFM1):c.1113C>T (p.Ser371=)SNV Likely benign 162486 rs724160027 X:129270669-129270669 X:130136694-130136694
19 AIFM1 NM_004208.4(AIFM1):c.1030C>T (p.Leu344Phe)SNV Likely benign 162477 rs184474885 X:129271098-129271098 X:130137123-130137123
20 AIFM1 NM_004208.4(AIFM1):c.273T>C (p.Asp91=)SNV Benign 367892 rs1139851 X:129283520-129283520 X:130149545-130149545

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

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, with Peripheral Neuropathy

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

Pathways for Deafness, X-Linked 5, with Peripheral Neuropathy

Pathways related to Deafness, X-Linked 5, with Peripheral Neuropathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.42 PRPS1L1 PRPS1

GO Terms for Deafness, X-Linked 5, with Peripheral Neuropathy

Cellular components related to Deafness, X-Linked 5, with Peripheral Neuropathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ribose phosphate diphosphokinase complex GO:0002189 8.62 PRPS1L1 PRPS1

Biological processes related to Deafness, X-Linked 5, with Peripheral Neuropathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.43 POU3F4 PJVK OTOF
2 nucleoside metabolic process GO:0009116 9.4 PRPS1L1 PRPS1
3 purine nucleotide biosynthetic process GO:0006164 9.37 PRPS1L1 PRPS1
4 nucleotide biosynthetic process GO:0009165 9.32 PRPS1L1 PRPS1
5 ribonucleoside monophosphate biosynthetic process GO:0009156 9.16 PRPS1L1 PRPS1
6 5-phosphoribose 1-diphosphate biosynthetic process GO:0006015 8.96 PRPS1L1 PRPS1
7 cellular biosynthetic process GO:0044249 8.62 PRPS1L1 PRPS1

Molecular functions related to Deafness, X-Linked 5, with Peripheral Neuropathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ribose phosphate diphosphokinase activity GO:0004749 8.62 PRPS1L1 PRPS1

Sources for Deafness, X-Linked 5, with Peripheral Neuropathy

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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