Classic Pantothenate Kinase-associated Neurodegeneration

Clinical Features

Top most frequent phenotypes and symptoms related to Classic Pantothenate Kinase-associated Neurodegeneration

  • Seizures
  • Global developmental delay
  • Spasticity
  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria
  • Gait disturbance
  • Dysphagia
  • Blindness
  • Rod-cone dystrophy

And another 18 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.

Alternative names

Classic Pantothenate Kinase-associated Neurodegeneration Is also known as neurodegeneration with brain iron accumulation type 1, classic form, nbia1, classic form, pkan, classic form.

Researches and researchers

Doctors, researchs, and experts related to Classic Pantothenate Kinase-associated Neurodegeneration extracted from public data.

Classic Pantothenate Kinase-associated Neurodegeneration Experts map



Current Researchs and researchers

  • MILANO — Pr Sonia LEVI

    Investigator of research project

    • Institution/s:
      — Università Vita e Salute, IRCCS Ospedale San Raffaele
    • Research area/topic::

      Implementation of human neuronal cultures and mouse models of Pantothenate kinase 2 deficiency to investigate pathogenic mechanisms of iron-related neurodegeneration and evaluate Coenzyme A therapeutic efficacy



Mendelian

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Classic Pantothenate Kinase-associated Neurodegeneration Recommended genes panels

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

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation - Syndromic Disorders.

By Athena Diagnostics Inc (United States).

SYNGAP1, TBX1, TSC1, TSC2, SETBP1, PANK2, ADGRV1, ATP6V0A2, MAGI2, VPS13A, ANKRD11, VPS13B, KIF1BP, KANSL1, SMC3, PIGV, NIPBL, ROGDI, GFAP, HPRT1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Pantothenate Kinase Associated Neurodegeneration (PKAN), PANK2, Deletion/Duplication.

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

PANK2
Specificity
100 %
Genes
100 %
Pantothenate Kinase Associated Neurodegeneration (PKAN), PANK2, Sequencing and Deletion/Duplication.

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

PANK2
Specificity
100 %
Genes
100 %
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing.

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

SQSTM1, PANK2, TRIM32, FA2H, CP, C19orf12, DCAF17, WDR45, COASY, ATP13A2, FTL, FUCA1, KIF1A, PLA2G6
Specificity
8 %
Genes
100 %
Dystonia.

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

SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SPR, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, FBXO7, CACNA1A, NPC2, PINK1, PANK2, SAMHD1, APTX , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
100 %
Movement Disorders Panel.

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

SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SNCA, SPR, SQSTM1, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, VPS35, FBXO7, CACNA1A, NPC2, PINK1 , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

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