Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hereditary sensory and autonomic neuropathy type 2A

The neuropathy of Morvan disease is characterized by progressive disturbances of sensory and autonomic nerves. The disease is inherited in an autosomal recessive pattern. Loss-of-function mutations of the WNK1 gene are responsible.

Systematic

Hereditary neurological disorders
Alzheimer disease
Arts syndrome
Autism
Autosomal dominant cerebellar ataxia, deafness and narcolepsy
Autosomal recessive spastic paraplegia type 44
Brain malformations with urinary tract defects
Brain small vessel disease with hemorrhage
Brunner syndrome
Charcot-Marie-Tooth disease
Congenital insensitivity to pain with anhidrosis
Hereditary benign chorea
Hereditary distal motor neuron neuropathy type 5A
Hereditary muscle diseases
Hereditary sensory and autonomic neuropathy type 2A
WNK1
Hereditary sensory neuropathy type 1E
Hypokalemic periodic paralysis 1
Hypomyelinating Leukodystrophy 2
Idiopathic basal ganglia calcification 1
Intellectual disability-severe speech delay-mild dysmorphism syndrome
Migraine
Nemaline myopathy 5
Porencephaly
Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly
Spastic paraplegia 17 with amyotrophy of hands and feet
Susceptibility to glioma
Vascular dementia
X-linked syndromic mental retardation 13

References:

1.

GIACCAI L et al. (1952) Familial and sporadic neurogenic acro-osteolysis.

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2.

HOZAY J et al. (1953) [A peculiar familial dystrophy; early inhibition of acral growth and non-mutilating acral osteolysis with facial dysmorphosis].

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3.

HELLER IH et al. (1955) Hereditary sensory neuropathy.

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4.

VAN BOGAERT L et al. (1957) Familial ulcers, mutilating lesions of the extremities, and acro-osteolysis.

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5.

et al. () ////

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6.

OGDEN TE et al. (1959) Some sensory syndromes in children: indifference to pain and sensory neuropathy.

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7.

Lafreniere RG et al. (2004) Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates.

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8.

Rivière JB et al. (2004) A mutation in the HSN2 gene causes sensory neuropathy type II in a Lebanese family.

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9.

Roddier K et al. (2005) Two mutations in the HSN2 gene explain the high prevalence of HSAN2 in French Canadians.

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10.

Coen K et al. (2006) Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II.

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11.

Cho HJ et al. (2006) Novel mutation in the HSN2 gene in a Korean patient with hereditary sensory and autonomic neuropathy type 2.

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12.

Shekarabi M et al. (2008) Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II.

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13.

Jedrzejowska H et al. (1976) Recessive hereditary sensory neuropathy.

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14.

Ogryzlo MA et al. (1946) FAMILIAL PERIPHERAL NEUROPATHY.

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15.

Böckers M et al. (1989) Persistent skin ulcers, mutilations, and acro-osteolysis in hereditary sensory and autonomic neuropathy with phospholipid excretion. Report of a family.

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16.

Murray TJ et al. (1973) Congenital sensory neuropathy.

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17.

Barry JE et al. (1974) Congenital sensory neuropathy.

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18.

Haddow JE et al. (1970) Congenital sensory neuropathy in siblings.

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19.

Freytag E et al. (1967) Neuropathologic findings in patients of a hospital for the mentally deficient. A survey of 359 cases.

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20.

Hould F et al. (1967) [Hereditary radicular neuropathy with sensory loss: study of a French-Canadian family].

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21.

Schoene WC et al. (1970) Hereditary sensory neuropathy. A clinical and ultrastructural study.

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22.

Ota M et al. (1973) Hereditary sensory neuropathy, type II. Clinical, electrophysiologic, histologic, and biochemical studies of a Quebec kinship.

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23.

Sirinavin C et al. (1982) Digital clubbing, hyperhidrosis, acro-osteolysis and osteoporosis. A case resembling pachydermoperiostosis.

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Update: Sept. 26, 2018