ANOA
MCID: ADT008
MIFTS: 24

Auditory Neuropathy and Optic Atrophy (ANOA)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Auditory Neuropathy and Optic Atrophy

MalaCards integrated aliases for Auditory Neuropathy and Optic Atrophy:

Name: Auditory Neuropathy and Optic Atrophy 57 72
Auditory Neuropathy-Optic Atrophy Syndrome 58 29 6
Anoa 57 72
Neuropathy, Auditory, and Optic Atrophy 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in the first or second decade
one patient (patient a) had onset of nystagmus and retinitis pigmentosa at age 2 years


HPO:

31
auditory neuropathy and optic atrophy:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare otorhinolaryngological diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for Auditory Neuropathy and Optic Atrophy

UniProtKB/Swiss-Prot : 72 Auditory neuropathy and optic atrophy: An autosomal recessive disease characterized by hearing loss, visual impairment and optic atrophy, with onset in the first or second decades of life. Optic atrophy is caused by degeneration of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts.

MalaCards based summary : Auditory Neuropathy and Optic Atrophy, also known as auditory neuropathy-optic atrophy syndrome, is related to auditory neuropathy spectrum disorder and pineocytoma. An important gene associated with Auditory Neuropathy and Optic Atrophy is FDXR (Ferredoxin Reductase). Affiliated tissues include eye and retina, and related phenotypes are nystagmus and hearing impairment

OMIM® : 57 ANOA is an autosomal recessive neurologic disorder characterized by onset of visual and hearing impairment in the first or second decades (summary by Paul et al., 2017). (617717) (Updated 05-Apr-2021)

Related Diseases for Auditory Neuropathy and Optic Atrophy

Diseases related to Auditory Neuropathy and Optic Atrophy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 auditory neuropathy spectrum disorder 11.3
2 pineocytoma 10.0

Symptoms & Phenotypes for Auditory Neuropathy and Optic Atrophy

Human phenotypes related to Auditory Neuropathy and Optic Atrophy:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 HP:0000639
2 hearing impairment 31 HP:0000365
3 visual impairment 31 HP:0000505
4 optic atrophy 31 HP:0000648
5 pallor 31 HP:0000980
6 ophthalmoplegia 31 HP:0000602
7 rod-cone dystrophy 31 HP:0000510

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
optic atrophy
impaired vision
nystagmus (patient a)
decreased visual evoked potentials
papilledema pallor
more
Laboratory Abnormalities:
fibroblasts show variable decreases in mitochondrial respiratory complex activities
increased iron uptake
mitochondrial oxidative stress

Head And Neck Ears:
hearing loss
auditory neuropathy
impaired auditory brainstem responses (abrs)
discrepancies between tonal and vocal audiometry

Clinical features from OMIM®:

617717 (Updated 05-Apr-2021)

Drugs & Therapeutics for Auditory Neuropathy and Optic Atrophy

Search Clinical Trials , NIH Clinical Center for Auditory Neuropathy and Optic Atrophy

Genetic Tests for Auditory Neuropathy and Optic Atrophy

Genetic tests related to Auditory Neuropathy and Optic Atrophy:

# Genetic test Affiliating Genes
1 Auditory Neuropathy-Optic Atrophy Syndrome 29 FDXR

Anatomical Context for Auditory Neuropathy and Optic Atrophy

MalaCards organs/tissues related to Auditory Neuropathy and Optic Atrophy:

40
Eye, Retina

Publications for Auditory Neuropathy and Optic Atrophy

Articles related to Auditory Neuropathy and Optic Atrophy:

# Title Authors PMID Year
1
FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases. 57 6 61
28965846 2017

Variations for Auditory Neuropathy and Optic Atrophy

ClinVar genetic disease variations for Auditory Neuropathy and Optic Atrophy:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FDXR NM_024417.5(FDXR):c.1429G>A (p.Glu477Lys) SNV Pathogenic 441240 rs997026784 GRCh37: 17:72858986-72858986
GRCh38: 17:74862864-74862864
2 FDXR NM_024417.5(FDXR):c.1255C>T (p.Gln419Ter) SNV Pathogenic 441238 rs1313895172 GRCh37: 17:72859288-72859288
GRCh38: 17:74863166-74863166
3 FDXR NM_024417.5(FDXR):c.643C>G (p.Leu215Val) SNV Pathogenic 441239 rs1555620021 GRCh37: 17:72861020-72861020
GRCh38: 17:74864898-74864898
4 FDXR NM_024417.5(FDXR):c.916C>T (p.Arg306Cys) SNV Likely pathogenic 441237 rs752143061 GRCh37: 17:72860356-72860356
GRCh38: 17:74864234-74864234
5 FDXR NM_024417.5(FDXR):c.619A>T (p.Ile207Phe) SNV Likely pathogenic 689759 rs1598518754 GRCh37: 17:72861044-72861044
GRCh38: 17:74864922-74864922
6 FDXR NM_024417.5(FDXR):c.472G>A (p.Val158Met) SNV Likely pathogenic 689760 rs1441084539 GRCh37: 17:72862288-72862288
GRCh38: 17:74866166-74866166
7 FDXR NM_024417.5(FDXR):c.980G>A (p.Arg327His) SNV Uncertain significance 803464 rs752410856 GRCh37: 17:72860292-72860292
GRCh38: 17:74864170-74864170

UniProtKB/Swiss-Prot genetic disease variations for Auditory Neuropathy and Optic Atrophy:

72
# Symbol AA change Variation ID SNP ID
1 FDXR p.Leu215Val VAR_080376
2 FDXR p.Arg242Trp VAR_080377
3 FDXR p.Arg306Cys VAR_080378
4 FDXR p.Arg327Ser VAR_080379

Expression for Auditory Neuropathy and Optic Atrophy

Search GEO for disease gene expression data for Auditory Neuropathy and Optic Atrophy.

Pathways for Auditory Neuropathy and Optic Atrophy

GO Terms for Auditory Neuropathy and Optic Atrophy

Sources for Auditory Neuropathy and Optic Atrophy

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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