DFNX5
MCID: DFN380
MIFTS: 36

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 57
Deafness, X-Linked 5 57 29 13 6
Dfnx5 57 12 73
Aunx1 57 12 73
X-Linked Auditory Neuropathy with Peripheral Sensory Neuropathy Type 1 12 58
Auditory Neuropathy, X-Linked, 1, with Peripheral Sensory Neuropathy 57 73
X-Linked Hsan with Deafness 12 58
X-Linked Deafness 5 12 15
Auditory Neuropathy, X-Linked, 1, with Peripheral Sensory Neuropathy; Aunx1 57
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
Deafness, X-Linked, 5, with Peripheral Neuropathy 73
X-Linked Hsan with Hearing Loss 58
Deafness, X-Linked, Type 5 39

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®:

57 (Updated 05-Mar-2021)
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® 57 300614
OMIM Phenotypic Series 57 PS304500 PS609129
MeSH 44 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, with peripheral neuropathy: 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). 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® : 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) (Updated 05-Mar-2021)

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 55)
# Related Disease Score Top Affiliating Genes
1 auditory neuropathy spectrum disorder 30.2 PJVK OTOF AIFM1
2 branchiootic syndrome 1 29.8 PJVK OTOF
3 neuropathy 29.4 PRPS1 PJVK OTOF DIAPH3 AIFM1
4 autosomal dominant nonsyndromic deafness 29.2 SMPX POU3F4 PJVK OTOF DIAPH3
5 x-linked hereditary sensory and autonomic neuropathy with deafness 11.3
6 spondyloepimetaphyseal dysplasia, x-linked 10.3 RAB33A AIFM1
7 spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy 10.3 RAB33A AIFM1
8 charcot-marie-tooth disease, x-linked recessive, 4, with or without cerebellar ataxia 10.3 RAB33A AIFM1
9 deafness, autosomal recessive 8 10.2 PJVK OTOF
10 deafness, autosomal recessive 85 10.2 PJVK OTOF
11 deafness, autosomal recessive 59 10.2 PJVK OTOF
12 deafness, autosomal recessive 83 10.2 PJVK OTOF
13 deafness, autosomal recessive 93 10.2 PJVK OTOF
14 autosomal recessive nonsyndromic deafness 3 10.2 PJVK OTOF
15 deafness, autosomal recessive 7 10.1 PJVK OTOF
16 y-linked deafness 10.1 POU3F4 OTOF
17 y-linked monogenic disease 10.1 POU3F4 OTOF
18 deafness, autosomal recessive 49 10.1 POU3F4 PJVK
19 charcot-marie-tooth disease, x-linked dominant, 6 10.1 SMPX PRPS1
20 deafness, autosomal recessive 1b 10.1 SMPX POU3F4
21 deafness, autosomal recessive 2 10.1 PJVK OTOF
22 mohr-tranebjaerg syndrome 10.0 SMPX POU3F4
23 deafness, autosomal recessive 1a 10.0 PJVK OTOF
24 x-linked sensorineural deafness 10.0 PRPS1L1 PRPS1
25 auditory system disease 10.0 POU3F4 PJVK OTOF
26 charcot-marie-tooth disease type 5 10.0 PRPS1L1 PRPS1
27 x-linked non-syndromic sensorineural deafness type dfn 10.0 SMPX PRPS1 COL4A6
28 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 10.0 POU3F4 PJVK OTOF
29 hereditary hearing loss and deafness 9.9 SMPX PRPS1 POU3F4
30 auditory neuropathy, autosomal dominant, 1 9.9 PJVK OTOF DIAPH3
31 usher syndrome, type i 9.9 SMPX PJVK OTOF
32 deafness, autosomal recessive 9 9.9 PJVK OTOF DIAPH3
33 phosphoribosylpyrophosphate synthetase superactivity 9.9 PRPS1L1 PRPS1
34 sensory peripheral neuropathy 9.9
35 peripheral nervous system disease 9.9
36 nonsyndromic deafness 9.9
37 rare genetic deafness 9.9 POU3F4 PJVK OTOF
38 charcot-marie-tooth disease x-linked recessive 4 9.9 RAB33A PRPS1 PJVK AIFM1
39 purine-pyrimidine metabolic disorder 9.9 PRPS1L1 PRPS1
40 charcot-marie-tooth disease type x 9.9 PRPS1L1 PRPS1 AIFM1
41 brown-vialetto-van laere syndrome 9.8 PRPS1L1 PRPS1
42 charcot-marie-tooth disease, x-linked recessive, 5 9.8 PRPS1L1 PRPS1 POU3F4
43 arts syndrome 9.8 PRPS1L1 PRPS1 POU3F4
44 nonsyndromic hearing loss 9.8 PRPS1 POU3F4 PJVK OTOF
45 charcot-marie-tooth disease 9.7 RAB33A PRPS1L1 PRPS1 AIFM1
46 lesch-nyhan syndrome 9.6 PRPS1L1 PRPS1
47 opitz-kaveggia syndrome 9.5 VCX3A PRPS1L1 PRPS1
48 combined oxidative phosphorylation deficiency 6 9.4 VCX3A RAB33A PJVK HS6ST2 AIFM1
49 deafness, x-linked 6 9.3 SMPX PRPS1L1 PRPS1 POU3F4 COL4A6 AIFM1
50 deafness, x-linked 3 9.3 SMPX PRPS1L1 PRPS1 POU3F4 COL4A6 AIFM1

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®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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:

# Title Authors PMID Year
1
Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder. 57 6
25986071 2015
2
AUNX1, a novel locus responsible for X linked recessive auditory and peripheral neuropathy, maps to Xq23-27.3. 57 6
16816020 2006
3
Sex-linked deafness. 57
18005182 2008
4
A dominantly inherited progressive deafness affecting distal auditory nerve and hair cells. 57
15675004 2004
5
Familial auditory neuropathy. 57
12972945 2003
6
The varieties of auditory neuropathy. 57
11041385 2000
7
Abnormal auditory evoked potentials in hereditary motor-sensory neuropathy. 57
223494 1979
8
X-Linked Sensorineural Hearing Loss: A Literature Review. 61
30065609 2018
9
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 RAB33A NM_004208.4(AIFM1):c.1352G>A (p.Arg451Gln) SNV Pathogenic 218108 rs863225431 X:129267384-129267384 X:130133409-130133409
2 RAB33A NM_004208.4(AIFM1):c.778A>G (p.Thr260Ala) SNV Pathogenic 218110 rs863225432 X:129274511-129274511 X:130140536-130140536
3 RAB33A NM_004208.4(AIFM1):c.1264C>T (p.Arg422Trp) SNV Pathogenic/Likely pathogenic 162479 rs724160020 X:129270061-129270061 X:130136086-130136086
4 RAB33A NM_004208.4(AIFM1):c.1265G>A (p.Arg422Gln) SNV Pathogenic/Likely pathogenic 162480 rs724160021 X:129270060-129270060 X:130136085-130136085
5 RAB33A NM_004208.4(AIFM1):c.1030C>T (p.Leu344Phe) SNV Pathogenic/Likely pathogenic 162477 rs184474885 X:129271098-129271098 X:130137123-130137123
6 RAB33A NM_004208.4(AIFM1):c.1097A>G (p.Asn366Ser) SNV Likely pathogenic 162478 rs724160019 X:129270685-129270685 X:130136710-130136710
7 RAB33A NM_004208.4(AIFM1):c.-123G>C SNV Likely pathogenic 162472 rs724160014 X:129299753-129299753 X:130165779-130165779
8 RAB33A NM_004208.4(AIFM1):c.434C>T (p.Ala145Val) SNV Likely pathogenic 162473 rs724160015 X:129281767-129281767 X:130147792-130147792
9 RAB33A NM_004208.4(AIFM1):c.572_573delinsCT (p.Leu191Pro) Indel Likely pathogenic 162474 rs724160016 X:129281500-129281501 X:130147525-130147526
10 RAB33A NM_004208.4(AIFM1):c.845C>T (p.Thr282Met) SNV Likely pathogenic 162475 rs724160017 X:129273783-129273783 X:130139808-130139808
11 RAB33A NM_004208.4(AIFM1):c.860T>C (p.Ile287Thr) SNV Likely pathogenic 162476 rs724160018 X:129272675-129272675 X:130138700-130138700
12 RAB33A NM_004208.4(AIFM1):c.1424C>T (p.Pro475Leu) SNV Likely pathogenic 162481 rs724160022 X:129267312-129267312 X:130133337-130133337
13 RAB33A NM_004208.4(AIFM1):c.1492G>A (p.Val498Met) SNV Likely pathogenic 162482 rs724160023 X:129265731-129265731 X:130131756-130131756
14 RAB33A NM_004208.4(AIFM1):c.1678T>C (p.Tyr560His) SNV Likely pathogenic 162483 rs724160024 X:129264037-129264037 X:130130062-130130062
15 RAB33A NM_004208.4(AIFM1):c.1319C>T (p.Ala440Val) SNV Likely pathogenic 162484 rs724160025 X:129267417-129267417 X:130133442-130133442
16 RAB33A NM_004208.4(AIFM1):c.1078G>C (p.Gly360Arg) SNV Likely pathogenic 162485 rs724160026 X:129270704-129270704 X:130136729-130136729
17 RAB33A NM_004208.4(AIFM1):c.170C>G (p.Ser57Cys) SNV Uncertain significance 445310 rs201711375 X:129290514-129290514 X:130156540-130156540
18 RAB33A NM_004208.4(AIFM1):c.1241T>C (p.Ile414Thr) SNV Uncertain significance 804085 rs1603222490 X:129270084-129270084 X:130136109-130136109
19 RAB33A NM_004208.4(AIFM1):c.1113C>T (p.Ser371=) SNV Likely benign 162486 rs724160027 X:129270669-129270669 X:130136694-130136694
20 RAB33A 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

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 9.5 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 9.26 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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