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IllnessNeuropathy, hereditary sensory and autonomic type 2; differential diagnosis

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Summary

Short information

Comprehensive differential diagnostic panel for Neuropathy, hereditary sensory and autonomic type 2 comprising 18 guideline-curated and altogether 20 curated genes according to the clinical signs

ID
NP1234
Number of genes
20 Accredited laboratory test
Examined sequence length
19,7 kb (Core-/Core-canditate-Genes)
78,2 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
KIF1A5073NM_004321.8AR, AD
RETREG11494NM_001034850.3AR
SCN9A5934NM_002977.3AD, AR
WNK17149NM_018979.4AR
ATL11677NM_015915.5AD
ATL31626NM_015459.5AD
CLTCL14752NM_007098.4AR
DNMT14899NM_001130823.3AD
DST17028NM_001723.7AR
ELP13999NM_003640.5AR
FAAH1740NM_001441.3Sus
FLVCR11668NM_014053.4AR
NGF726NM_002506.3AR
NTRK12373NM_001012331.2AR
PRDM121109NM_021619.3AR
RAB7A624NM_004637.6AD
SCN11A5376NM_014139.3AD
SPTLC11422NM_006415.4AD
SPTLC21689NM_004863.4AD
ZFHX27765
  • No OMIM-Gs linked
NM_033400.3AD

Informations about the disease

Synonyms
  • Alias: Hereditäre sensibel-autonome Neuropathie, HSAN, Typ II
  • Alias: Hereditäre sensible und autonome Neuropathie, HSAN
  • Alias: Polyneuropathie
  • Alias: Sensory and autonomic neuropathy type 2, HSAN2, HSANII
  • Allelic: Drug addiction, susceptibility to (FAAH)
  • Allelic: Epidermolysis bullosa simplex, AR 2 (DST)
  • Allelic: Erythermalgia, primary (SCN9A)
  • Allelic: Pseudohypoaldosteronism, type IIC (WNK1)
  • Ataxia, posterior column, with retinitis pigmentosa (FLVCR1)
  • Cerebellar ataxia, deafness, and narcolepsy, AD (DNMT1)
  • Charcot-Marie-Tooth disease, type 2B (RAB7A)
  • Dysautonomia, familial (ELP1)
  • Episodic pain syndrome, familial, 3 (SCN11A)
  • Insensitivity to pain, congenital (SCN9A)
  • Insensitivity to pain, congenital, with anhidrosis (NTRK1)
  • Insensitivity to pain, healing [panelapp] (FAAH)
  • Marsili syndrome (ZFHX2)
  • NESCAV syndrome (KIF1A)
  • Neuropathy, hereditary sensory + autonomic, type IA (SPTLC1)
  • Neuropathy, hereditary sensory + autonomic, type IC (SPTLC2)
  • Neuropathy, hereditary sensory + autonomic, type II (WNK1)
  • Neuropathy, hereditary sensory + autonomic, type IIB (RETREG1)
  • Neuropathy, hereditary sensory + autonomic, type IID (SCN9A)
  • Neuropathy, hereditary sensory + autonomic, type V (NGF)
  • Neuropathy, hereditary sensory + autonomic, type VI (DST)
  • Neuropathy, hereditary sensory + autonomic, type VII (SCN11A)
  • Neuropathy, hereditary sensory + autonomic, type VIII (PRDM12)
  • Neuropathy, hereditary sensory, type ID (ATL1)
  • Neuropathy, hereditary sensory, type IE (DNMT1)
  • Neuropathy, hereditary sensory, type IF (ATL3)
  • Neuropathy, hereditary sensory, type IIC (KIF1A)
  • Paroxysmal extreme pain disorder (SCN9A)
  • Small fiber neuropathy (SCN9A)
  • Spastic paraplegia 30, AD, AR (KIF1A)
  • Spastic paraplegia 3A, AD (ATL1)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Sus
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined