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Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18

MedGen UID:
1843000
•Concept ID:
C5680418
•
Disease or Syndrome
Synonyms: Neonatal-onset autoinflammation-cytopenia-facial dysmorphism syndrome; neonatal-onset severe multisystemic autoinflammatory disease with increased IL18; Neonatal-onset severe multisystemic autoinflammatory disease with increased interleukin 18
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0850065
Orphanet: ORPHA619363

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNeonatal-onset severe multisystemic autoinflammatory disease with increased IL18

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