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IllnessHyperferritinemia[-cataract syndrome]/Neuroferrtinopathy, differential diagnosis

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Summary

Short information

A comprehensive panel für Hyperferritinemia[-cataract syndrome]/Neuroferrtinopathy, differential diagnosis containing 3 core-/core-candidate genes and altogether 14 curatierted genes

ID
HP9122
Number of genes
1 Accredited laboratory test
Examined sequence length
0,0 kb (Core-/Core-canditate-Genes)
3,5 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ATXN23462NM_002973.4AD

Informations about the disease

Synonyms
  • Allelic: Amyotrophic lateral sclerosis, susceptibility to, 13 (ATXN2)
  • Allelic: Hereditary Hyperferritinemia-Cataract syndromc
  • Allelic: Hyperferritinemia, hereditary, without iron overload
  • Allelic: L-Ferritin deficiency
  • Allelic: Lopes-Maciel-Rodan syndrome (HTT)
  • Allelic: Neuroferritinopathy
  • Allelic: Parkinson disease 14, AR (PLA2G6)
  • Allelic: Parkinson disease, late-onset, susceptibility to (ATXN2)
  • Allelic: Parkinson disease, susceptibility to (TBP)
  • Cerebellar ataxia (CP)
  • Choreoacanthocytosis (VPS13A)
  • HARP [Hypoprebetalipoproteinemia/Acanthocytosis/Retinitis pigm./Pallidal degener.] syndrome (PANK2)
  • Hemochromatosis, type 4 (SLC40A1)
  • Hemosiderosis, systemic, due to aceruloplasminemia (CP)
  • Huntington disease (HTT)
  • Hyperferritinemia-cataract syndrome (FTL)
  • Hypoceruloplasminemia, hereditary (CP)
  • Infantile neuroaxonal dystrophy 1 (PLA2G6)
  • Machado-Joseph disease (ATXN3)
  • McLeod syndrome +/- chronic granulomatous disease (XK)
  • Neurodegeneration with brain iron accumulation 1 (PANK2)
  • Neurodegeneration with brain iron accumulation 2B (PLA2G6)
  • Neurodegeneration with brain iron accumulation 3 (FTL)
  • Niemann-Pick disease, type C1 (NPC1)
  • Niemann-Pick disease, type C2 (NPC2)
  • Niemann-Pick disease, type D (NPC1)
  • Parkinson disease, juvenile, type 2 (PRKN)
  • Spinocerebellar ataxia 17 (TBP)
  • Spinocerebellar ataxia 2 (ATXN2)
Heredity, heredity patterns etc.
  • AD
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined