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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
Ataxia-pancytopenia 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
Epilepsy syndrome
Hereditary benign chorea
Hereditary brain tumors
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
Tuberous sclerosis complex
Vascular dementia
X-linked syndromic mental retardation 13

References:

1.

None (1953) [A peculiar familial dystrophy; early inhibition of acral growth and non-mutilating acral osteolysis with facial dysmorphosis].

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2.

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

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3.

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

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4.

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

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5.

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

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6.

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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7.

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

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8.

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

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9.

None (1973) Congenital sensory neuropathy.

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10.

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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11.

None (1946) FAMILIAL PERIPHERAL NEUROPATHY.

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12.

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

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13.

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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14.

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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15.

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

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16.

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

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17.

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

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18.

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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19.

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

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20.

None () ////

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21.

None (1957) Familial ulcers, mutilating lesions of the extremities, and acro-osteolysis.

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22.

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

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23.

None (1952) Familial and sporadic neurogenic acro-osteolysis.

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24.

OMIM.ORG article

Omim 201300 external link
25.

Orphanet article

Orphanet ID 83467 external link
26.

Wikipedia article

Wikipedia EN (Hereditary_sensory_and_autonomic_neuropathy) external link
Update: Aug. 14, 2020
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