Posterior Column Ataxia With Retinitis Pigmentosa; Axpc1

Description

Posterior column ataxia with retinitis pigmentosa is an autosomal recessive neurologic disorder characterized by childhood-onset retinitis pigmentosa and later onset of gait ataxia due to sensory loss (summary by Ishiura et al., 2011).

Clinical Features

Top most frequent phenotypes and symptoms related to Posterior Column Ataxia With Retinitis Pigmentosa; Axpc1

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Ataxia
  • Cataract
  • Visual impairment
  • Peripheral neuropathy
  • Optic atrophy
  • Skeletal muscle atrophy
And another 44 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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Posterior Column Ataxia With Retinitis Pigmentosa; Axpc1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
100 %
FLVCR1 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

FLVCR1
Specificity
100 %
Genes
100 %
FLVCR1 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

FLVCR1
Specificity
100 %
Genes
100 %
FLVCR1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

FLVCR1
Specificity
100 %
Genes
100 %
FLVCR1 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

FLVCR1
Specificity
100 %
Genes
100 %
Ataxia, Supplemental Recessive Evaluation.

By Athena Diagnostics Inc in United States.

POLG, AFG3L2, MTPAP, COQ8A, FLVCR1, APTX, ATM, MRE11, SACS, TTPA, SETX, SYNE1, SYT14, ANO10, TDP1, SIL1, GRM1
Specificity
6 %
Genes
100 %
Ataxia, Complete Recessive Evaluation.

By Athena Diagnostics Inc in United States.

POLG, AFG3L2, MTPAP, COQ8A, FLVCR1, FXN, APTX, ATM, MRE11, SACS, TTPA, SETX, SYNE1, SYT14, ANO10, TDP1, SIL1, GRM1
Specificity
6 %
Genes
100 %
Ataxia, Comprehensive Evaluation.

By Athena Diagnostics Inc in United States.

PRKCG, POLG, AFG3L2, MTPAP, COQ8A, FLVCR1, FXN, APTX, ATXN1, ATM, MRE11, SACS, TTPA, PPP2R2B, ATXN2, ATXN3, ATXN10, ATXN7, CACNA1A, TBP , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Retinitis Pigmentosa Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

ABHD12, ZNF513, AIPL1, BEST1, NEUROD1, SPATA7, PRKCG, CHM, RP1, ABCA4, MFRP, ARL6, CEP290, CLRN1, TTC8, USH2A, PRPH2, TULP1, SAG, RPGRIP1 , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
100 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

FMR1, TTR, UBE3A, AARS2, ABHD12, PC, UQCRQ, UQCRB, HLCS, BTD, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, ADSL, PRKCG , (...)

View the complete list with 460 more genes
Specificity
1 %
Genes
100 %
Ataxia, posterior column, with retinitis pigmentosa (sequence analysis of FLVCR1 gene).

By CGC Genetics in Portugal.

FLVCR1
Specificity
100 %
Genes
100 %
Retinitis pigmentosa (NGS panel for 72 genes).

By CGC Genetics in Portugal.

ZNF513, BEST1, SPATA7, RP1, ABCA4, ARL6, CLRN1, TTC8, USH2A, PRPH2, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, CRX , (...)

View the complete list with 52 more genes
Specificity
2 %
Genes
100 %
Retinitis pigmentosa, AR and X-linked (NGS panel for 53 genes).

By CGC Genetics in Portugal.

ZNF513, BEST1, SPATA7, RP1, ABCA4, TTC8, USH2A, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, CRB1, IDH3B, C8orf37, MERTK, DHDDS , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
100 %
Autosomal Recessive Retinitis Pigmentosa Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ABHD12, ZNF513, AIPL1, BEST1, NEUROD1, SPATA7, RP1, INPP5E, ABCA4, MFRP, ARL6, CEP290, CLRN1, TTC8, USH2A, TULP1, SAG, RPGRIP1, RPE65, RLBP1 , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
100 %
Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ABHD12, ZNF513, AIPL1, BEST1, NEUROD1, SPATA7, PRKCG, CHM, RP1, INPP5E, ABCA4, CACNA1F, MFRP, ARL6, CEP290, CLRN1, TTC8, USH2A, PRPH2, TULP1 , (...)

View the complete list with 60 more genes
Specificity
2 %
Genes
100 %
Hereditary Sensory and Autonomic Neuropathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

POLG, SPTLC2, FLVCR1, ELP1, RAB7A, NTRK1, WNK1, SPTLC1, ATL1, KIF1A, SCN9A, DNMT1, CCT5, DST, RETREG1, NGF, SCN11A, ATL3, CLTCL1, PRDM12
Specificity
5 %
Genes
100 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, NEUROD1, SPATA7, MMACHC, FBLN5, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, AMACR , (...)

View the complete list with 285 more genes
Specificity
1 %
Genes
100 %
Autosomal Recessive Retinitis Pigmentosa via FLVCR1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

FLVCR1
Specificity
100 %
Genes
100 %
Ataxia, posterior column, with retinitis pigmentosa.

By Centogene AG - the Rare Disease Company in Germany.

FLVCR1
Specificity
100 %
Genes
100 %
Ataxia, posterior column, with retinitis pigmentosa.

By Centogene AG - the Rare Disease Company in Germany.

FLVCR1
Specificity
100 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
Retinitis pigmentosa, autosomal recessive and X-linked Panel.

By CeGaT GmbH in Germany.

ZNF513, BEST1, SPATA7, RP1, ABCA4, CLRN1, TTC8, USH2A, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, CRB1, IDH3B, C8orf37, MERTK , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
100 %
Ataxia and differential diagnoses Panel.

By CeGaT GmbH in Germany.

FMR1, AARS2, ABHD12, UQCRQ, BTD, ATP7B, AUH, TWNK, PRKCG, PAX6, INPP5E, AMACR, OPA1, WFS1, GLB1, CC2D2A, ELOVL4, TMEM67, NPHP1, CEP290 , (...)

View the complete list with 184 more genes
Specificity
1 %
Genes
100 %
Single gene testing FLVCR1.

By CeGaT GmbH in Germany.

FLVCR1
Specificity
100 %
Genes
100 %
Spinocerebellar Ataxia.

By Asper Biogene Asper Biogene LLC in Estonia.

ABHD12, TWNK, PRKCG, WFS1, ELOVL4, AFG3L2, ACO2, COQ8A, DARS2, POLG2, FLVCR1, ABCB7, SLC9A6, PHYH, FXN, CYP27A1, APTX, TPP1, WWOX, NPC1 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
100 %
Eye diseases comprehensive panel.

By Asper Biogene Asper Biogene LLC in Estonia.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, OPN1MW, SPATA7, TYRP1, LRP5, COL2A1, VSX1, SLC45A2, PAX6, ZEB1, CHM, TGFBI, PITX3, TYR , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
100 %
Retinal Dystrophy Panel.

By Molecular Vision Laboratory in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, OPN1MW, OPN1LW, NEUROD1, SPATA7, MMACHC, LRP5, CHM, PDZD7, RP1, INPP5E, AMACR, OPA1 , (...)

View the complete list with 267 more genes
Specificity
1 %
Genes
100 %
MVL Vision Panel.

By Molecular Vision Laboratory in United States.

ZNF513, USH1G, USH1C, BEST1, C12orf65, INVS, OPN1MW, OPN1LW, NEUROD1, SPATA7, MMACHC, LRP5, CHM, PDZD7, RP1, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4 , (...)

View the complete list with 248 more genes
Specificity
1 %
Genes
100 %
RETINITIS PIGMENTOSA A.R..

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

ZNF513, BEST1, SPATA7, RP1, ABCA4, TTC8, USH2A, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, CRB1, IDH3B, C8orf37, MERTK, DHDDS , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
RETINITIS PIGMENTOSA.

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

ZNF513, BEST1, SPATA7, RP1, ABCA4, TTC8, USH2A, PRPH2, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, CRX, CRB1, IDH3B , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
100 %
Eye Disorders: Comprehensive Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, TYRP1, LRP5, COL2A1, OCA2, SLC45A2, WT1, PAX6, CHM, PITX3, TYR, RP1, GPR143 , (...)

View the complete list with 190 more genes
Specificity
1 %
Genes
100 %
Retinitis Pigmentosa: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ZNF513, AIPL1, BEST1, SPATA7, RP1, ABCA4, CLRN1, TTC8, USH2A, PRPH2, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1 , (...)

View the complete list with 44 more genes
Specificity
2 %
Genes
100 %
Retina/Photoreceptor Dystrophy: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ZNF513, AIPL1, BEST1, SPATA7, LRP5, COL2A1, PAX6, CHM, RP1, OPA1, ELOVL4, ABCA4, CACNA1F, NDP, OTX2, CNGB3, KCNJ13, CEP290, CLRN1, TTC8 , (...)

View the complete list with 100 more genes
Specificity
1 %
Genes
100 %
Achalasia: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FLVCR1, AIRE, ACTB, AAAS, GUCY1A1, GMPPA
Specificity
17 %
Genes
100 %
Eye Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, TYRP1, LRP5, COL2A1, OCA2, SLC45A2, WT1, PAX6, CHM, PITX3, TYR, PDZD7, RP1 , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
100 %
Retinitis Pigmentosa NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ZNF513, AIPL1, USH1C, BEST1, INVS, SPATA7, RP1, WFS1, ABCA4, CACNA1F, ARL6, NPHP3, NPHP1, MKKS, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4 , (...)

View the complete list with 68 more genes
Specificity
2 %
Genes
100 %
FLVCR1.

By Fulgent Genetics Fulgent Genetics in United States.

FLVCR1
Specificity
100 %
Genes
100 %
Retinal Dystrophy Panel.

By Blueprint Genetics in Finland.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, MMACHC, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4 , (...)

View the complete list with 240 more genes
Specificity
1 %
Genes
100 %
Ataxia Panel.

By Blueprint Genetics in Finland.

FMR1, ABHD12, TWNK, PRKCG, PAX6, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4, TMEM67, ARL6, NPHP1, MKKS, CEP290, TTC8, TRIM32, POLG, NDUFS4, AFG3L2 , (...)

View the complete list with 137 more genes
Specificity
1 %
Genes
100 %
Retinitis Pigmentosa Panel.

By Blueprint Genetics in Finland.

ABHD12, ZNF513, AIPL1, USH1C, BEST1, SPATA7, PRKCG, CHM, RP1, INPP5E, ABCA4, MFRP, ARL6, CEP290, CLRN1, TTC8, USH2A, PRPH2, TULP1, SAG , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
100 %
Autosomal Recessive and Sporadic Retinitis Pigmentosa, Panel Massive Sequencing (NGS) 41 Genes.

By Reference Laboratory Genetics in Spain.

ZNF513, BEST1, SPATA7, RP1, ABCA4, TTC8, USH2A, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, CRB1, IDH3B, C8orf37, MERTK, DHDDS , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
Retinitis Pigmentosa (Complet Panel) , Panel Massive Sequencing (NGS) 57 Genes.

By Reference Laboratory Genetics in Spain.

ZNF513, BEST1, SPATA7, RP1, ABCA4, TTC8, USH2A, PRPH2, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, CRX, CRB1, IDH3B , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
100 %

Alternate names

Posterior Column Ataxia With Retinitis Pigmentosa; Axpc1 Is also known as pcarp;autosomal recessive posterior column ataxia and retinitis pigmentosa; pcarp.


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