MCID: ADT008
MIFTS: 17

Auditory Neuropathy and Optic Atrophy

Categories: Genetic diseases, Eye 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 57 75 6
Anoa 57 75
Neuropathy, Auditory, and Optic Atrophy 40

Characteristics:

OMIM:

57
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:



External Ids:

OMIM 57 617717

Summaries for Auditory Neuropathy and Optic Atrophy

UniProtKB/Swiss-Prot : 75 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.

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)

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 10.0

Symptoms & Phenotypes for Auditory Neuropathy and Optic Atrophy

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
hearing loss
auditory neuropathy
impaired auditory brainstem responses (abrs)
discrepancies between tonal and vocal audiometry

Laboratory Abnormalities:
fibroblasts show variable decreases in mitochondrial respiratory complex activities
increased iron uptake
mitochondrial oxidative stress

Head And Neck Eyes:
impaired vision
optic atrophy
decreased visual evoked potentials
papilledema pallor
retinitis pigmentosa (patient a)
more

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

Anatomical Context for Auditory Neuropathy and Optic Atrophy

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

41
Retina

Publications for Auditory Neuropathy and Optic Atrophy

Variations for Auditory Neuropathy and Optic Atrophy

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

75
# 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 GRCh37 Chromosome 17, 72859288: 72859288
4 FDXR NM_024417.4(FDXR): c.1255C> T (p.Gln419Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 74863166: 74863166
5 FDXR NM_024417.4(FDXR): c.643C> G (p.Leu215Val) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 74864898: 74864898
6 FDXR NM_024417.4(FDXR): c.643C> G (p.Leu215Val) single nucleotide variant Pathogenic 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....