Channelopathy-associated congenital insensitivity to pain

General Information (adopted from Orphanet):

Synonyms, Signs: CONGENITAL ANALGESIA, AUTOSOMAL RECESSIVE
ASYMBOLIA FOR PAIN
INSENSITIVITY TO PAIN, CHANNELOPATHY-ASSOCIATED
Number of Symptoms 13
OrphanetNr: 88642
OMIM Id: 243000
ICD-10: G60.8
UMLs: C0002768
C0020075
MeSH: D000699
D009477
MedDRA:
Snomed: 128206006
403605007

Prevalence, inheritance and age of onset:

Prevalence: 20 cases [Orphanet]
Inheritance: Autosomal dominant
Autosomal recessive
[Orphanet]
Age of onset: Infantile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal recessive hereditary sensory and autonomic neuropathy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0004409) Hyposmia 16 / 7739
2
(HPO:0000458) Anosmia 49 / 7739
3
(HPO:0007021) Pain insensitivity 35 / 7739
4
(HPO:0001265) Hyporeflexia 208 / 7739
5
(HPO:0002661) Painless fractures due to injury 5 / 7739
6
(OMIM) All other sensory modalities are intact 1 / 7739
7
(OMIM) Bone deformities resulting from untreated fractures 1 / 7739
8
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
9
(OMIM) Isolated absence of pain sensation 2 / 7739
10
(MedDRA:10004847) Biopsy peripheral nerve normal 2 / 7739
11
(OMIM) Normal axonal flare response after intradermal histamine injection 2 / 7739
12
(OMIM) Neuropathic joints 1 / 7739
13
(HPO:0003593) Infantile onset 249 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Individuals with congenital indifference to pain have painless injuries beginning in infancy but otherwise normal sensory modalities. Perception of passive movement, joint position, and vibration are normal, as are tactile thresholds and light touch perception. Reflexes and autonomic ...
Molecular genetics OMIM By sequence analysis of the SCN9A gene in 3 northern Pakistani families segregating autosomal recessive 'channelopathy-associated insensitivity to pain,' Cox et al. (2006) identified 3 distinct homozygous nonsense mutations (603415.0005-603415.0007). By coexpression of wildtype or mutant human Nav1.7 ...