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Obesity due to SIM1 deficiency

MedGen UID:
1680592
Concept ID:
C5191050
Disease or Syndrome
Synonyms: Obesity due to SIM bHLH transcription factor 1 deficiency; obesity due to SIM1 deficiency
SNOMED CT: Obesity due to SIM bHLH transcription factor 1 deficiency (783719006); Obesity due to SIM1 deficiency (783719006)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Monarch Initiative: MONDO:0018244
Orphanet: ORPHA369873

Definition

A rare genetic form of obesity with characteristics of severe early-onset obesity, hyperphagia and variable presence of cognitive impairment and behavioral disorder, including autistic spectrum behavior, impaired concentration and memory deficit. Some patients present with Prader-Willi-like features such as hypotonia, developmental delay, intellectual disability, short stature, hypopituitarism and dysmorphic facial features. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVObesity due to SIM1 deficiency

Recent clinical studies

Etiology

Saeed S, Janjua QM, Haseeb A, Khanam R, Durand E, Vaillant E, Ning L, Badreddine A, Berberian L, Boissel M, Amanzougarene S, Canouil M, Derhourhi M, Bonnefond A, Arslan M, Froguel P
Diabetes 2022 Apr 1;71(4):694-705. doi: 10.2337/db21-0373. PMID: 35061034
Lee EB, Mattson MP
Acta Neuropathol 2014 Jan;127(1):3-28. Epub 2013 Oct 6 doi: 10.1007/s00401-013-1190-x. PMID: 24096619Free PMC Article
Traurig M, Mack J, Hanson RL, Ghoussaini M, Meyre D, Knowler WC, Kobes S, Froguel P, Bogardus C, Baier LJ
Diabetes 2009 Jul;58(7):1682-9. Epub 2009 Apr 28 doi: 10.2337/db09-0028. PMID: 19401419Free PMC Article
Hung CC, Luan J, Sims M, Keogh JM, Hall C, Wareham NJ, O'Rahilly S, Farooqi IS
Int J Obes (Lond) 2007 Mar;31(3):429-34. Epub 2006 Aug 22 doi: 10.1038/sj.ijo.0803443. PMID: 16924270

Diagnosis

D'Angelo CS, Kohl I, Varela MC, de Castro CI, Kim CA, Bertola DR, Lourenço CM, Perez AB, Koiffmann CP
Am J Med Genet A 2013 Mar;161A(3):479-86. Epub 2013 Feb 7 doi: 10.1002/ajmg.a.35761. PMID: 23401328

Therapy

Saeed S, Janjua QM, Haseeb A, Khanam R, Durand E, Vaillant E, Ning L, Badreddine A, Berberian L, Boissel M, Amanzougarene S, Canouil M, Derhourhi M, Bonnefond A, Arslan M, Froguel P
Diabetes 2022 Apr 1;71(4):694-705. doi: 10.2337/db21-0373. PMID: 35061034
McCormack SE, Blevins JE, Lawson EA
Endocr Rev 2020 Apr 1;41(2):121-45. doi: 10.1210/endrev/bnz012. PMID: 31803919Free PMC Article

Prognosis

Sullivan AE, Raimondo A, Schwab TA, Bruning JB, Froguel P, Farooqi IS, Peet DJ, Whitelaw ML
Biochem J 2014 Aug 1;461(3):403-12. doi: 10.1042/BJ20131618. PMID: 24814368

Clinical prediction guides

McCormack SE, Blevins JE, Lawson EA
Endocr Rev 2020 Apr 1;41(2):121-45. doi: 10.1210/endrev/bnz012. PMID: 31803919Free PMC Article
Sullivan AE, Raimondo A, Schwab TA, Bruning JB, Froguel P, Farooqi IS, Peet DJ, Whitelaw ML
Biochem J 2014 Aug 1;461(3):403-12. doi: 10.1042/BJ20131618. PMID: 24814368
Zegers D, Beckers S, Hendrickx R, Van Camp JK, de Craemer V, Verrijken A, Van Hoorenbeeck K, Verhulst SL, Rooman RP, Desager KN, Massa G, Van Gaal LF, Van Hul W
Int J Obes (Lond) 2014 Jul;38(7):1000-4. Epub 2013 Oct 7 doi: 10.1038/ijo.2013.188. PMID: 24097297
D'Angelo CS, Kohl I, Varela MC, de Castro CI, Kim CA, Bertola DR, Lourenço CM, Perez AB, Koiffmann CP
Am J Med Genet A 2013 Mar;161A(3):479-86. Epub 2013 Feb 7 doi: 10.1002/ajmg.a.35761. PMID: 23401328
Hung CC, Luan J, Sims M, Keogh JM, Hall C, Wareham NJ, O'Rahilly S, Farooqi IS
Int J Obes (Lond) 2007 Mar;31(3):429-34. Epub 2006 Aug 22 doi: 10.1038/sj.ijo.0803443. PMID: 16924270

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