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HEREDITARY SENSORY & AUTONOMIC NEUROPATHIES (HSAN)

Hereditary Sensory & Autonomic Neuropathy Syndromes
HSN Disorder Gene Chromosome Inheritance Onset Age Clinical features Axon loss

Cajal
IA
IC
SPTLC1
SPTLC2
9q22
14q24
Dominant > 20 years Pan-sensory loss
Acromutilation
Small > Large
IB   3p24 Dominant 20 to 40 years Pan-sensory loss
Cough; GE reflux
Small & Large
ID ATL1 14q11 Dominant Early adult Sensory loss
Acromutilation
Small & Large
IE DNMT1 19p13 Dominant 16 to 35 years Sensory loss
Deaf; Dementia
Small & Large
IF ATL3 11q13 Dominant 14 to 35 years Sensory loss Small & Large
II WNK1/HSN2 12p13 Recessive Congenital, or
Early childhood
Sensory loss
Acromutilation
Large & Small
IIB FAM134B 5p15 Recessive Childhood Sensory loss
Acromutilation
Small > Large
IIC ATSV
  (KIF1A)
2q37 Recessive 6 to 15 yrs Sensory loss
Acromutilation
Weakness, Distal
Large > Small
IID
Inability to
  experience pain
SCN 9A 2q24 Recessive Congenital Absence of pain
Autonomic
None
III IKBKAP 9q31 Recessive Congenital Riley-Day Syndrome Large & Small
IV NTRK1 1q21 Recessive Congenital, or
Early childhood
Sensory neuropathy
 Anhidrosis
C
V NGF-β 1p13 Recessive Early childhood
to Adult
Absence of pain
  No anhidrosis
Aδ- & C
VI Dystonin 6p12 Recessive Congenital Absent tears Large & Small
VII (Absent pain)
Episodic pain
SCN 11A 3p22 Dominant Congenital Absence of pain
Hyperhidrosis; GI Δ
None
Absent pain,
  congenital
    Recessive Congenital, or
Early childhood
Absence of pain
  No anhidrosis
Erythromelalgia SCN 9A 2q24 Dominant Childhood Pain, distal
  Episodic
None
Biemond ataxia     Dominant 19 to 30 years Sensory loss Large
Ataxic
  Neuropathy
    Dominant After 4th decade Sensory loss
Ataxia
Large
Ataxic
  neuropathy 2
  16q22 Dominant After 2nd decade Sensory loss
Ataxia
Large
Ulcero-Mutilation     Dominant 5 to 30 years Acromutilation Large & Small
Spastic paraparesis CCT5 5p15 Recessive 1 to 5 years Acromutilation Large & Small
Thermoanalgesia     Dominant 5th decade Absent pain &
  temperature; Ataxia
Large & Small
HSAN + Diarrhea PRNP 20p13 Dominant Adult Diarrhea &
  Sensory loss
 
PCARP FLVCR1 1q31 Recessive Early childhood Proprioceptive loss
  Visual loss
Large
SNAX1 RNF170 8p11 Dominant 3rd to 8th decade Proprioceptive loss Posterior
  column


Hereditary sensory neuropathy with  
Neurogenic Joint & Limb syndrome

Hereditary Neuropathies with Ulcero-mutilation 3
Also see


Polyneuropathy with Minifascicles, 46,XY Gonadal dysgenesis & Mental retardation1
  desert hedgehog (DHH) ; Chromosome 12q13.12; Sporadic (Recessive)


Posterior column ataxia & Retinitis pigmentosa (AXPC1; PCARP) 11
  Feline leukemia virus subgroup C cellular receptor 1 (FLVCR1) ; Chromosome 1q32.3; Recessive

Hereditary Sensory Neuropathy with Gastro-Esophageal reflux & Cough (HSAN IB) 4
  Chromosome 3p24-p22; Dominant

Hereditary Sensory Neuropathy with Deafness and Global Delay 2
  Autosomal Recessive

Hereditary Sensory Neuropathy with Deafness & Dementia (HSN 1E) 12
  DNA methyltransferase 1 (DNMT1) ; Chromosome 19p13.2; Dominant & Simplex
  • X-linked Sensory Neuropathy with Deafness (AUNX1) 8
      Chromosome Xq23–27.3; Recessive

    Gyrate atrophy of choroid & retina with hyperornithinemia
      Ornithine aminotransferase (OAT) ; Chromosome 10q26.13; Recessive

    Hereditary Sensory & Autonomic neuropathy (HSAN) with Anosmia 6
      ? Autosomal Recessive

    Hereditary sensory and autonomic neuropathy type IID 13
      SCN 9A ; Chromosome 2q24.3; Recessive

    Congenital inability to experience pain 9
      SCN 9A ; Chromosome 2q24.3; Recessive

    Paroxysmal Extreme Pain Disorder (PEPD) 10
      SCN 9A ; Chromosome 2q24.3; Dominant

    Animal model of HSN: mutilated foot (mf) rat5
      Chaperonin containing T-complex polypeptide 1, subunit 4 (CCT4) ; Recessive

    Congenital Indifference to Pain 7

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    References
    1. Am J Hum Genet 2000;67, Acta Neuropath 1999;98:309-312
    2. Pediat Neurol 2002;27:49-52
    3. Arch Neurol 2003;60:329-334
    4. Am J Hum Genet 2003;Online July
    5. Hum Molec Genet 2003;12:1917-1925
    6. Acta Neurol Scand 2001;104:316-319
    7. Pain 2006;122:210-215
    8. J Med Genet 2006;43:e33
    9. Nature 2006;444:894-898
    10. Neuron 2006;52:767–774; Journal of Neurology, Neurosurgery, and Psychiatry 2006;77:1294-1295
    11. Am J Human Genet 2010;87:643–654
    12. Nat Genet 2011 May 1
    13. Neurology 2013;80: Online April

    8/8/2014