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Results: 5

1.

Hereditary sensory and autonomic neuropathy type IIA

Hereditary sensory and autonomic neuropathy type II (HSAN2) is characterized by progressively reduced sensation to pain, temperature, and touch. Onset can be at birth and is often before puberty. The sensory deficit is predominantly distal with the lower limbs more severely affected than the upper limbs. Over time sensory function becomes severely reduced. Unnoticed injuries and neuropathic skin promote ulcerations and infections that result in spontaneous amputation of digits or the need for surgical amputation. Osteomyelitis is common. Painless fractures can complicate the disease. Autonomic disturbances are variable and can include hyperhidrosis, tonic pupils, and urinary incontinence in those with more advanced disease. [from GeneReviews]

MedGen UID:
416701
Concept ID:
C2752089
Disease or Syndrome
2.

Indifference to pain, congenital, autosomal recessive

Congenital indifference to pain is a rare autosomal recessive disorder characterized by the complete absence of pain perception typically associated with noxious stimuli. Affected individuals are aware of a stimulus, but have lost the ability to perceive pain. Most patients are hyposmic or anosmic. Other sensory modalities are unaffected, and there is an absence of overt autonomic symptoms. Sural nerve biopsy and nerve conduction velocity studies are normal (summary by Cox et al., 2006; and Goldberg et al., 2012). Hereditary sensory and autonomic neuropathy type IID (HSAN2D) is an autosomal recessive disorder characterized by congenital or childhood-onset distal loss of pain and temperature sensation as well as autonomic dysfunction accompanied by hyposmia, hearing loss, hypogeusia, and sometimes bone dysplasia. The phenotype is highly variable, even within families. Two Japanese families have been reported (summary by Yuan et al., 2013). For a discussion of genetic heterogeneity of HSAN, see HSAN1 (162400). [from OMIM]

MedGen UID:
344563
Concept ID:
C1855739
Disease or Syndrome
3.

Morvan's Disease

MedGen UID:
148334
Concept ID:
C0751540
Disease or Syndrome
4.

Hereditary sensory neuropathy

group of peripheral nervous system hereditary disorders with varying course, symptoms, neuropathology, and genetics, but characterized by degeneration of peripheral nerves, and clinically by loss of sensation. [from CRISP]

MedGen UID:
147062
Concept ID:
C0699739
Disease or Syndrome
5.

Hereditary sensory and autonomic neuropathy type II

Hereditary sensory and autonomic neuropathy type II (HSAN2) is characterized by progressively reduced sensation to pain, temperature, and touch. Onset can be at birth and is often before puberty. The sensory deficit is predominantly distal with the lower limbs more severely affected than the upper limbs. Over time sensory function becomes severely reduced. Unnoticed injuries and neuropathic skin promote ulcerations and infections that result in spontaneous amputation of digits or the need for surgical amputation. Osteomyelitis is common. Painless fractures can complicate the disease. Autonomic disturbances are variable and can include hyperhidrosis, tonic pupils, and urinary incontinence in those with more advanced disease. [from GeneReviews]

MedGen UID:
42513
Concept ID:
C0020072
Disease or Syndrome

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