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SUDDEN INFANT DEATH SYNDROME(SIDS)

MedGen UID:
52548
Concept ID:
C0038644
Disease or Syndrome
Synonyms: CAV3-Related Sudden Infant Death Syndrome; SIDS; Sudden Infant Death
SNOMED CT: SIDS - sudden infant death syndrome (51178009); Sudden infant death syndrome (51178009); Unexpected sudden death of infant (51178009); Crib death (51178009); Cot death (51178009)
 
Gene (location): SCN5A (3p22.2)
 
OMIM®: 272120

Definition

Sudden infant death syndrome (SIDS) is a diagnosis of exclusion which should be made only after a thorough autopsy without identification of a specific cause of death (Mage and Donner, 2004). Weese-Mayer et al. (2007) provided a detailed review of genetic factors that have been implicated in SIDS. The authors concluded that SIDS represents more than 1 entity and has a heterogeneous etiology most likely involving several different genetically controlled metabolic pathways. [from OMIM]

Clinical features

From HPO
Sudden death
MedGen UID:
8257
Concept ID:
C0011071
Pathologic Function
Rapid and unexpected death.
Apneic episodes in infancy
MedGen UID:
814310
Concept ID:
C3807980
Finding
Recurrent episodes of apnea occurring during infancy.
Malignant hyperthermia
MedGen UID:
1830388
Concept ID:
C5779784
Pathologic Function
Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C. Malignant hyperthermia may occur in response to either inhalational anesthetics such as halothane, to muscle relaxants such as succinylcholine, or to exercise.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSUDDEN INFANT DEATH SYNDROME

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