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Indifference to pain, congenital, autosomal recessive(CIP)

MedGen UID:
344563
Concept ID:
C1855739
Disease or Syndrome
Synonyms: ASYMBOLIA FOR PAIN; CIP; CONGENITAL ANALGESIA, AUTOSOMAL RECESSIVE; Insensitivity to pain, channelopathy-associated
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, Orphanet
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).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
 
Gene (location): SCN9A (2q24.3)
OMIM®: 243000
Orphanet: ORPHA88642

Definition

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]

Additional description

From GHR
Congenital insensitivity to pain is a condition that inhibits the ability to perceive physical pain. From birth, affected individuals never feel pain in any part of their body when injured. People with this condition can feel the difference between sharp and dull and hot and cold, but cannot sense, for example, that a hot beverage is burning their tongue. This lack of pain awareness often leads to an accumulation of wounds, bruises, broken bones, and other health issues that may go undetected. Young children with congenital insensitivity to pain may have mouth or finger wounds due to repeated self-biting and may also experience multiple burn-related injuries. These repeated injuries often lead to a reduced life expectancy in people with congenital insensitivity to pain. Many people with congenital insensitivity to pain also have a complete loss of the sense of smell (anosmia). Congenital insensitivity to pain is considered a form of peripheral neuropathy because it affects the peripheral nervous system, which connects the brain and spinal cord to muscles and to cells that detect sensations such as touch, smell, and pain.  http://ghr.nlm.nih.gov/condition/congenital-insensitivity-to-pain

Clinical features

Sense of smell impaired
MedGen UID:
66693
Concept ID:
C0234260
Finding
Anosmia
MedGen UID:
504449
Concept ID:
CN000428
Finding
An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell.
Hyporeflexia
MedGen UID:
101804
Concept ID:
C0151888
Finding
Sense of smell impaired
MedGen UID:
66693
Concept ID:
C0234260
Finding
Anosmia
MedGen UID:
504449
Concept ID:
CN000428
Finding
An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell.
Pain insensitivity
MedGen UID:
429077
Concept ID:
CN006129
Finding
Inability to perceive painful stimuli.
Painless fractures due to injury
MedGen UID:
325208
Concept ID:
C1837602
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGIndifference to pain, congenital, autosomal recessive
Follow this link to review classifications for Indifference to pain, congenital, autosomal recessive in Orphanet.

Recent clinical studies

Etiology

Vardy PA, Greenberg LW, Kachel C, de Leon GF
Am J Dis Child 1979 Nov;133(11):1153-5. PMID: 92193

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