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Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency

MedGen UID:
1674241
Concept ID:
C5190989
Disease or Syndrome
Synonyms: Severe early-onset obesity insulin resistance syndrome due to SH2B adaptor protein 1 deficiency; Severe early-onset obesity insulin resistance syndrome due to SH2B1 deficiency; severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
SNOMED CT: Severe early-onset obesity insulin resistance syndrome due to SH2B1 deficiency (783556000); Severe early-onset obesity insulin resistance syndrome due to SH2B adaptor protein 1 deficiency (783556000)
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.
 
Monarch Initiative: MONDO:0017994
Orphanet: ORPHA329249

Definition

A rare genetic form of obesity characterized by severe early-onset obesity, hyperphagia, insulin resistance with hyperinsulinemia, reduced adult final height, delayed speech and language development and a tendency for social isolation and aggressive behavior. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency

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