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IllnessNeuropathy, hereditary sensory + autonomous - HSN/HSAN; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Neuropathy, hereditary sensory and autonomous comprising altogether 26 guideline-curated genes according to the clinical signs

ID
NP1233
Number of genes
26 Accredited laboratory test
Examined sequence length
85,4 kb (Core-/Core-canditate-Genes)
- (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
AAAS1641NM_015665.6AR
ARL6IP1612NM_015161.3AR
ATL11677NM_015915.5AD
ATL31626NM_015459.5AD
CLTCL14752NM_007098.4AR
DNMT14899NM_001130823.3AD
DST17028NM_001723.7AR
ELP13999NM_003640.5AR
FLVCR11668NM_014053.4AR
GLA1290NM_000169.3XL
GMPPA1263NM_205847.3AR
KIF1A5073NM_004321.8AR, AD
NAGLU2232NM_000263.4AD
NGF726NM_002506.3AR
NTRK12373NM_001012331.2AR
PRDM121109NM_021619.3AR
RAB7A624NM_004637.6AD
RETREG11494NM_001034850.3AR
SCN10A5871NM_006514.4AD
SCN11A5376NM_014139.3AD
SCN9A5934NM_002977.3AD, AR
SPTLC11422NM_006415.4AD
SPTLC21689NM_004863.4AD
TRPA13360NM_007332.3AD
TTR444NM_000371.4AD
WNK17149NM_018979.4AR

Informations about the disease

Clinical Comment

The hereditary sensory and autonomic neuropathies (HSAN) represent a genetically and clinically heterogeneous group of neurodegenerative disorders of the peripheral nervous system. Clinical descriptions of HSAN are somewhat inconsistent, possibly as result of reports lacking molecular genetic confirmation of the diagnosis. The group of HSAN1A to HSAN1F is an autosomal dominantly inherited, genetically heterogeneous disorder defined by the five mutated genes. The HSAN2A to HSAN2D group is characterized by a progressive reduction in pain, temperature and touch sensation and is caused by mutations in four different genes. HSAN3 (familial dysautonomia, Riley-Day syndrome) is caused by pathogenic variants in ELP1 and is inherited in an autosomal recessive manner. HSAN4 as congenital insensitivity to pain with anhidrosis results from pathogenic variants in NTRK1. It is characterized by profound sensory loss, primarily affecting the perception of pain and temperature. HSAN5 shows clear clinical overlap with HSAN4 and is caused by pathogenic variants either in the NGF or NTRK1 genes. HSAN6 is characterized by dysautonomic symptoms and a mutated DST1 gene. Clinically closely related appears congenital pain insensitivity caused by two additional mutated genes (SCN9A, SCN11A) as well as CMT2B (RAB7A mutations). The molecular genetic diagnostic yield differs greatly between HSAN groups or is mostly unknown. Therefore, a negative DNA result does not exclude the clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK49247/

 

Synonyms
  • Alias: HSAN
  • Alias: HSN
  • Alias: Polyneuropathie
  • Allelic: Episodic pain syndrome, familial, 3 (SCN11A)
  • Allelic: Erythermalgia, primary (SCN9A)
  • Allelic: Febrile seizures, familial, 3B (SCN9A)
  • Allelic: Generalized epilepsy with febrile seizures plus, type 7 (SCN9A)
  • Allelic: Mucopolysaccharidosis type IIIB [Sanfilippo B] (NAGLU)
  • Allelic: NESCAV syndrome (KIF1A)
  • Allelic: Paroxysmal extreme pain disorder (SCN9A)
  • Allelic: Pseudohypoaldosteronism, type IIC (WNK1)
  • Allelic: Spastic paraplegia 30, AD + AR (KIF1A)
  • Achalasia-addisonianism-alacrimia syndrome (AAAS)
  • Alacrima, achalasia + mental retardation syndrome (GMPPA)
  • Amyloidosis, hereditary, transthyretin-related (TTR)
  • Ataxia, posterior column, with retinitis pigmentosa (FLVCR1)
  • Carpal tunnel syndrome, familial (TTR)
  • Charcot-Marie-Tooth disease, axonal, type 2V (NAGLU)
  • Dysautonomia, familial (ELP1 syn. IKBKAP)
  • Dystransthyretinemic hyperthyroxinemia (TTR)
  • Episodic pain syndrome, familial, 1 (TRPA1)
  • Episodic pain syndrome, familial, 2 (SCN10A)
  • Fabry disease (GLA)
  • Insensitivity to pain, congenital (SCN9A)
  • Insensitivity to pain, congenital, with anhidrosis (NTRK1)
  • 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 syn. FAM134B)
  • 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, type IIC (KIF1A)
  • Small fiber neuropathy (SCN9A)
  • Spastic paraplegia 61, AR (ARL6IP1)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined