ANOA
MCID: ADT008
MIFTS: 22

Auditory Neuropathy and Optic Atrophy (ANOA)

Categories: Eye diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Auditory Neuropathy and Optic Atrophy

MalaCards integrated aliases for Auditory Neuropathy and Optic Atrophy:

Name: Auditory Neuropathy and Optic Atrophy 58 76 30 6
Anoa 58 76
Neuropathy, Auditory, and Optic Atrophy 41

Characteristics:

OMIM:

58
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


Classifications:



Summaries for Auditory Neuropathy and Optic Atrophy

UniProtKB/Swiss-Prot : 76 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 anoa, is related to pineocytoma. An important gene associated with Auditory Neuropathy and Optic Atrophy is FDXR (Ferredoxin Reductase). Affiliated tissues include retina and eye, and related phenotypes are nystagmus and hearing impairment

OMIM : 58 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)

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 pineocytoma 10.1

Symptoms & Phenotypes for Auditory Neuropathy and Optic Atrophy

Human phenotypes related to Auditory Neuropathy and Optic Atrophy:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 nystagmus 33 HP:0000639
2 hearing impairment 33 HP:0000365
3 visual impairment 33 HP:0000505
4 optic atrophy 33 HP:0000648
5 pallor 33 HP:0000980
6 ophthalmoplegia 33 HP:0000602
7 rod-cone dystrophy 33 HP:0000510

Symptoms via clinical synopsis from OMIM:

58
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

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 and Optic Atrophy 30 FDXR

Anatomical Context for Auditory Neuropathy and Optic Atrophy

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

42
Retina, Eye

Publications for Auditory Neuropathy and Optic Atrophy

Articles related to Auditory Neuropathy and Optic Atrophy:

# Title Authors Year
1
FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases. ( 28965846 )
2017
2
Cellular conservation of endangered midget buffalo (Lowland Anoa, Bubalus quarlesi) by establishment of primary cultured cell, and its immortalization with expression of cell cycle regulators. ( 27449922 )
2016
3
Pineocytoma in a lowland anoa (Bubalus depressicornis). ( 20961555 )
2011
4
Cytochrome b gene haplotypes characterize chromosomal lineages of anoa, the Sulawesi dwarf buffalo (Bovidae: Bubalus sp.). ( 9987926 )
1999
5
Mammalian cytogenetics. VI. The chromosomes of a male specimen of Anoa depressicornis quarlesi. ( 4668510 )
1972

Variations for Auditory Neuropathy and Optic Atrophy

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

76
# 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

ClinVar genetic disease variations for Auditory Neuropathy and Optic Atrophy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FDXR NM_024417.4(FDXR): c.916C> T (p.Arg306Cys) single nucleotide variant Pathogenic rs752143061 GRCh37 Chromosome 17, 72860356: 72860356
2 FDXR NM_024417.4(FDXR): c.916C> T (p.Arg306Cys) single nucleotide variant Pathogenic rs752143061 GRCh38 Chromosome 17, 74864234: 74864234
3 FDXR NM_024417.4(FDXR): c.1255C> T (p.Gln419Ter) single nucleotide variant Pathogenic rs1313895172 GRCh37 Chromosome 17, 72859288: 72859288
4 FDXR NM_024417.4(FDXR): c.1255C> T (p.Gln419Ter) single nucleotide variant Pathogenic rs1313895172 GRCh38 Chromosome 17, 74863166: 74863166
5 FDXR NM_024417.4(FDXR): c.643C> G (p.Leu215Val) single nucleotide variant Pathogenic rs1555620021 GRCh38 Chromosome 17, 74864898: 74864898
6 FDXR NM_024417.4(FDXR): c.643C> G (p.Leu215Val) single nucleotide variant Pathogenic rs1555620021 GRCh37 Chromosome 17, 72861020: 72861020
7 FDXR NM_024417.4(FDXR): c.1429G> A (p.Glu477Lys) single nucleotide variant Pathogenic rs997026784 GRCh37 Chromosome 17, 72858986: 72858986
8 FDXR NM_024417.4(FDXR): c.1429G> A (p.Glu477Lys) single nucleotide variant Pathogenic rs997026784 GRCh38 Chromosome 17, 74862864: 74862864

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
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
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
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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