Neuropathy, Ataxia, And Retinitis Pigmentosa

Description

Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy.

Clinical Features

Top most frequent phenotypes and symptoms related to Neuropathy, Ataxia, And Retinitis Pigmentosa

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Motor delay
  • Muscle weakness
  • Myopathy
  • Peripheral neuropathy
And another 29 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Neuropathy, Ataxia, And Retinitis Pigmentosa Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Common Mitochondrial Disorders Evaluation (POLG, MELAS, MERRF, NARP).

By Athena Diagnostics Inc in United States.

POLG, MT-TL1, MT-TK, MT-ATP6
Specificity
25 %
Genes
100 %
NARP mtDNA Evaluation.

By Athena Diagnostics Inc in United States.

MT-ATP6
Specificity
100 %
Genes
100 %
Mitochondrial DNA-Associated Leigh Syndrome and NARP.

By Center for Human Genetics, Inc in United States.

MT-ATP6
Specificity
100 %
Genes
100 %
Mitochondrial diseases.

By Center for Human Genetics, Inc in United States.

MT-ATP6, MT-ND1, MT-ND6, MT-ND4, MT-RNR1, MT-CYB, MT-ND2, MT-CO2, MT-ND5, MT-CO1, MT-RNR2, MT-CO3, MT-ND3, MT-ATP8
Specificity
8 %
Genes
100 %
Comprehensive Mitochondrial Metabolic Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, AGL, ACADVL, ACAT1, YARS2, PC, GYS2, UQCRQ, ARG1, UQCRB, HLCS, ATP5F1E, BTD, ATPAF2 , (...)

View the complete list with 176 more genes
Specificity
1 %
Genes
100 %
Mitochondrial Genome Sequence.

By Molecular Genetics Laboratory London Health Sciences Centre in Canada.

MT-TL1, MT-TK, MT-ATP6, MT-ND1, MT-ND6, MT-ND4, MT-TS1, MT-TS2, MT-RNR1, MT-CYB, MT-ND2, MT-CO2, MT-ND5, MT-CO1, MT-RNR2, MT-CO3, MT-ND3, MT-ATP8, MT-TT, MT-TP , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Mitochondrial Disorders (mtDNA) Sequencing.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

MT-TL1, MT-TK, MT-ATP6, MT-TS1, MT-TS2, MT-CYB, MT-ND2, MT-CO2, MT-ND5, MT-CO1, MT-RNR2, MT-CO3, MT-ND3, MT-ATP8, MT-TT, MT-TP, MT-TG, MT-TI, MT-TN, MT-ND4L , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
100 %
Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication).

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

MCCC2, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, PC, UQCRQ, UQCRB, ATPAF2, BCKDHA, BCKDHB, BCS1L, TWNK, CPT2, OPA1, TRMU, WFS1, DLD , (...)

View the complete list with 132 more genes
Specificity
1 %
Genes
100 %
MTATP6. Detection of the mutations m.8993T>G and m.8993T>C by sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

MT-ATP6
Specificity
100 %
Genes
100 %
MTATP6. Detection of the mutations m.8993T>G and m.8993T>C by sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

MT-ATP6
Specificity
100 %
Genes
100 %
MT-ATP6. Detection of the mutations m.8993T>G and m.8993T>C by sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

MT-ATP6
Specificity
100 %
Genes
100 %
MT-ATP6. Detection of the mutations m.8993T>G and m.8993T>C by sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

MT-ATP6
Specificity
100 %
Genes
100 %
Mitochondrial complex V (ATP synthase) deficiency (sequence analysis of MTATP6 gene).

By CGC Genetics in Portugal.

MT-ATP6
Specificity
100 %
Genes
100 %
Neuropathy, ataxia, and retinitis pigmentosa (NARP, sequence analysis of MTATP6 gene).

By CGC Genetics in Portugal.

MT-ATP6
Specificity
100 %
Genes
100 %
Leigh syndrome (m.8993T>G and m.8993T>C mutation on MT-ATP6 gene).

By CGC Genetics in Portugal.

MT-ATP6
Specificity
100 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
100 %
Mitochondrial DNA-Associated Leigh Syndrome and NARP.

By MGZ Medical Genetics Center in Germany.

MT-ATP6, MT-ATP8
Specificity
50 %
Genes
100 %
Leigh Syndrome (nuclear DNA mutation).

By MGZ Medical Genetics Center in Germany.

BCS1L, NDUFS4, NDUFAF2, NDUFA10, SCO2, PDHA1, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, NDUFAF6, SDHAF1, NDUFS1, NDUFV1, FASTKD2, COX6B1, TACO1, MTFMT, SDHA , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 2.

By MGZ Medical Genetics Center in Germany.

MT-ATP6, MT-ATP8
Specificity
50 %
Genes
100 %
Mitochondrial Cardiomyopathy - Sanger.

By MGZ Medical Genetics Center in Germany.

AARS2, ACAD9, MTO1, AGK, TMEM70, SLC25A3, SCO2, COX15, MT-TL1, MT-ATP6, MT-ATP8
Specificity
10 %
Genes
100 %
Mitochondrial complex V (ATP synthase) deficiency.

By Centogene AG - the Rare Disease Company in Germany.

MT-ATP6
Specificity
100 %
Genes
100 %
Mitochondrial complex V (ATP synthase) deficiency.

By Centogene AG - the Rare Disease Company in Germany.

MT-ATP6
Specificity
100 %
Genes
100 %
Leber optic atrophy.

By Centogene AG - the Rare Disease Company in Germany.

MT-ATP6
Specificity
100 %
Genes
100 %
Leber optic atrophy.

By Centogene AG - the Rare Disease Company in Germany.

MT-ATP6
Specificity
100 %
Genes
100 %
Mitochondrial genome panel.

By Centogene AG - the Rare Disease Company in Germany.

MT-TL1, MT-TK, MT-ATP6, MT-ND1, MT-ND6, MT-ND4, MT-TS1, MT-TS2, MT-RNR1, MT-CYB, MT-ND2, MT-CO2, MT-ND5, MT-CO1, MT-RNR2, MT-CO3, MT-ND3, MT-ATP8, MT-TT, MT-TP , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Nuclear encoded Mitochondriopathies Panel.

By CeGaT GmbH in Germany.

MCCC1, MCCC2, AARS2, ACAD9, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, UQCRQ, UQCRB, HLCS, ATP5F1E, BTD, ATPAF2, AUH, BCKDHA, BCKDHB , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
100 %
mtDNA encoded Mitochondriopathies Panel.

By CeGaT GmbH in Germany.

MT-TL1, MT-TK, MT-ATP6, MT-ND1, MT-ND6, MT-ND4, MT-TS1, MT-TS2, MT-RNR1, MT-CYB, MT-ND2, MT-CO2, MT-ND5, MT-CO1, MT-RNR2, MT-CO3, MT-ND3, MT-ATP8, MT-TT, MT-TP , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
NGS Panel for Congenital and Acquired Sideroblastic Anemia.

By BLOODGENETICS BLOODGENETICS in Spain.

YARS2, ALAS2, PUS1, ABCB7, SLC25A38, GLRX5, MT-ATP6, SLC19A2, LARS2, SF3B1, TRNT1, STEAP3, NDUFB11, HSPA9
Specificity
8 %
Genes
100 %
NARP, MT-ATP6 sequencing.

By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea.

MT-ATP6
Specificity
100 %
Genes
100 %
Leigh syndrome.

By Praxis fuer Humangenetik Wien in Austria.

MT-ATP6
Specificity
100 %
Genes
100 %
NARP syndrome.

By Praxis fuer Humangenetik Wien in Austria.

MT-ATP6
Specificity
100 %
Genes
100 %
Leigh syndrome.

By MedGene in Slovakia.

MT-ATP6
Specificity
100 %
Genes
100 %
NARP syndrome.

By MedGene in Slovakia.

MT-ATP6
Specificity
100 %
Genes
100 %
Leigh syndrome: mutation analysis (T8993G).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

MT-ATP6
Specificity
100 %
Genes
100 %
NARP syndrome (neuropathy, ataxia and retinitis pigmentosa): Mutation analysis (T8993G).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

MT-ATP6
Specificity
100 %
Genes
100 %
EPILEPSY HEREDITARY PANEL.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

STXBP1, ALDH7A1, ARX, CDKL5, PCDH19, SLC2A1, MT-ATP6, SCN1A, CACNA1A, KCNA1, CACNB4, ATP1A2, CACNA1H, CHRNB2, CPA6, EFHC1, LGI1, GABRB3, NHLRC1, SCN9A , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Mitochondrial Genome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MT-TL1, MT-TK, MT-ATP6, MT-ND1, MT-ND6, MT-ND4, MT-TS1, MT-TS2, MT-RNR1, MT-CYB, MT-ND2, MT-CO2, MT-ND5, MT-CO1, MT-RNR2, MT-CO3, MT-ND3, MT-ATP8, MT-TT, MT-TP , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Leigh syndrome.

By Bioarray in Spain.

MT-ATP6
Specificity
100 %
Genes
100 %
NARP syndrome.

By Bioarray in Spain.

MT-ATP6
Specificity
100 %
Genes
100 %
LEBER HEREDITARY OPTIC NEUROPATHY (LHON).

By Laboratorio de Genetica Clinica SL in Spain.

MT-ATP6, MT-CYB, MT-ND2, MT-CO2, MT-ND5, MT-CO1, MT-CO3, MT-ND3, MT-ATP8
Specificity
12 %
Genes
100 %
LEIGH'S SYNDROME WITH MATERNAL INHERITANCE.

By Laboratorio de Genetica Clinica SL in Spain.

MT-ATP6
Specificity
100 %
Genes
100 %
LEBER HEREDITARY OPTIC NEUROPATHY (LHON).

By Laboratorio de Genetica Clinica SL in Spain.

MT-ATP6, MT-CYB, MT-ND2, MT-CO2, MT-ND5, MT-CO1, MT-CO3, MT-ND3, MT-ATP8
Specificity
12 %
Genes
100 %
Mitochondrial Disease: ATP6, COX3 and ND3 gene sequencing.

By Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics in India.

MT-ATP6, MT-CO3, MT-ND3
Specificity
34 %
Genes
100 %
Hereditary Spastic Paraplegia (Mitochondrial inheritance): gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

MT-ATP6
Specificity
100 %
Genes
100 %
PeriRx SaliMark™ OSCC.

By PrimBio Research Institute PrimBio Research Institute in United States.

MT-ATP6, SAT1, OAZ1, RPL30, DUSP1
Specificity
20 %
Genes
100 %

Alternate names

Neuropathy, Ataxia, And Retinitis Pigmentosa Is also known as narp syndrome;neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome; neuropathy-ataxia-retinitis pigmentosa syndrome.


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