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Congenital sensory neuropathy with selective loss of small myelinated fibers(HSAN5)

MedGen UID:
6916
Concept ID:
C0020075
Disease or Syndrome
Synonyms: Hereditary Sensory and Autonomic Neuropathy Type V; HSAN Type V; HSAN V; HSAN5; INSENSITIVITY TO PAIN, CONGENITAL; NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
SNOMED CT: Hereditary sensory and autonomic neuropathy, type V (128206006); HSAN V (128206006); Hereditary sensory and autonomic neuropathy type V (128206006); Congenital sensory neuropathy with selective loss of small myelinated fibers (128206006)
 
Gene: NGF
Cytogenetic location: 1p13.2
OMIM: 608654

Definition

Hereditary sensory and autonomic neuropathy type V (HSAN5) is a condition that primarily affects the sensory nerve cells (sensory neurons), which transmit information about sensations such as pain, temperature, and touch. These sensations are impaired in people with HSAN5. The signs and symptoms of HSAN5 appear early, usually at birth or during infancy. People with HSAN5 lose the ability to feel pain, heat, and cold. Deep pain perception, the feeling of pain from injuries to bones, ligaments, or muscles, is especially affected in people with HSAN5. Because of the inability to feel deep pain, affected individuals suffer repeated severe injuries such as bone fractures and joint injuries that go unnoticed. Repeated trauma can lead to a condition called Charcot joints, in which the bones and tissue surrounding joints are destroyed. [from GHR]

Clinical features

Intellectual disability, mild
MedGen UID:
504770
Concept ID:
CN001151
Finding
Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
Pain insensitivity
MedGen UID:
429077
Concept ID:
CN006129
Finding
Inability to perceive painful stimuli.
Peripheral neuropathy
MedGen UID:
506330
Concept ID:
CN008687
Finding
Peripheral neuropathy is a general term for any disorder of the `peripheral nervous system` (FMA:9903). The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.
Anhidrosis
MedGen UID:
504668
Concept ID:
CN000908
Finding
Inability to sweat.
Episodic fever
MedGen UID:
500916
Concept ID:
CN001768
Finding
Periodic (episodic or recurrent) bouts of fever.

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