Auditory Neuropathy And Optic Atrophy; Anoa

Description

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).

Clinical Features

Top most frequent phenotypes and symptoms related to Auditory Neuropathy And Optic Atrophy; Anoa

  • Hearing impairment
  • Nystagmus
  • Delayed speech and language development
  • Visual impairment
  • Peripheral neuropathy
  • Optic atrophy
  • Rod-cone dystrophy
  • Pallor
  • Ophthalmoplegia
  • Optic disc pallor

And another 2 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Auditory Neuropathy And Optic Atrophy; Anoa Recommended genes panels

Panel Name, Specifity and genes Tested/covered
FDXR.

By Fulgent Genetics Fulgent Genetics (United States).

FDXR
Specificity
100 %
Genes
100 %
Comprehensive Hearing Loss and Deafness Panel.

By Blueprint Genetics (Finland).

BCS1L, RPS6KA3, SALL1, SEMA3E, SIX1, SIX5, SLC19A2, SNAI2, SMPX, SOX10, BTD, SUCLA2, SUCLG1, TWNK, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3 , (...)

View the complete list with 157 more genes
Specificity
1 %
Genes
100 %
Ataxia Panel.

By Blueprint Genetics (Finland).

SACS, SLC1A3, SLC20A2, SLC2A1, SLC9A6, SPG7, SPTBN2, STUB1, TWNK, ACO2, CEP41, TTPA, VAMP1, VLDLR, WFS1, WWOX, ARL6, ATP8A2, FBXL4, CA8 , (...)

View the complete list with 137 more genes
Specificity
1 %
Genes
100 %
Neuro-Ophthalmology Panel.

By Blueprint Genetics (Finland).

SLC25A4, SOX2, SPG7, TWNK, ACO2, TIMM8A, TK2, WFS1, ROBO3, SALL4, APTX, MFN2, RRM2B, RTN4IP1, KIF21A, CHN1, GPR143, TUBB3, ANTXR1, CISD2 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
Syndromic Hearing Loss Panel.

By Blueprint Genetics (Finland).

BCS1L, SALL1, SEMA3E, SIX1, SIX5, SLC19A2, SNAI2, SOX10, BTD, TWNK, TCOF1, TFAP2A, TIMM8A, TYR, USH1C, USH2A, CLRN1, WFS1, CDH23, CACNA1D , (...)

View the complete list with 65 more genes
Specificity
2 %
Genes
100 %
Optic Atrophy Panel.

By Blueprint Genetics (Finland).

SPG7, ACO2, TIMM8A, WFS1, SNX10, MFN2, RTN4IP1, CISD2, SLC25A46, TMEM126A, C12orf65, SLC52A2, FDXR, NDUFS1, NR2F1, OPA1, OPA3, POLG, PRPS1
Specificity
6 %
Genes
100 %
OPTIC ATROPHY NGS PANEL.

By Laboratorio de Genetica Clinica SL (Spain).

SPG7, ACO2, TIMM8A, WFS1, MFN2, RTN4IP1, CISD2, SLC25A46, TMEM126A, C12orf65, DNM1L, FDXR, NDUFS1, NR2F1, OPA1, OPA3, POLG
Specificity
6 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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