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Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome

MedGen UID:
343317
Concept ID:
C1855303
Disease or Syndrome
Synonym: Mental retardation syndrome, Belgian type
SNOMED CT: Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (722454003); Mental retardation syndrome Belgian type (722454003)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
 
Monarch Initiative: MONDO:0009581
OMIM®: 249599
Orphanet: ORPHA3044

Definition

This syndrome has characteristics of moderate intellectual deficit, craniofacial dysmorphism, hypergonadotropic hypogonadism, eunuchoid habitus, type 1 diabetes mellitus, and epilepsy. It has been described in four patients (three brothers and their sister). This syndrome is probably transmitted as an autosomal recessive trait. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIntellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
Follow this link to review classifications for Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome in Orphanet.

Professional guidelines

PubMed

Grundy SM, Stone NJ, Bailey AL, Beam C, Birtcher KK, Blumenthal RS, Braun LT, de Ferranti S, Faiella-Tommasino J, Forman DE, Goldberg R, Heidenreich PA, Hlatky MA, Jones DW, Lloyd-Jones D, Lopez-Pajares N, Ndumele CE, Orringer CE, Peralta CA, Saseen JJ, Smith SC Jr, Sperling L, Virani SS, Yeboah J
Circulation 2019 Jun 18;139(25):e1082-e1143. Epub 2018 Nov 10 doi: 10.1161/CIR.0000000000000625. PMID: 30586774Free PMC Article
Karam JH
Endocrinol Metab Clin North Am 1992 Jun;21(2):329-50. PMID: 1612069
Cantani A, Bellioni P, Bamonte G, Salvinelli F, Bamonte MT
Clin Pediatr (Phila) 1985 Oct;24(10):578-83. doi: 10.1177/000992288502401006. PMID: 3896611

Recent clinical studies

Etiology

Höybye C, Tauber M
J Clin Endocrinol Metab 2022 May 17;107(6):1698-1705. doi: 10.1210/clinem/dgac082. PMID: 35150573Free PMC Article
Grundy SM, Stone NJ, Bailey AL, Beam C, Birtcher KK, Blumenthal RS, Braun LT, de Ferranti S, Faiella-Tommasino J, Forman DE, Goldberg R, Heidenreich PA, Hlatky MA, Jones DW, Lloyd-Jones D, Lopez-Pajares N, Ndumele CE, Orringer CE, Peralta CA, Saseen JJ, Smith SC Jr, Sperling L, Virani SS, Yeboah J
Circulation 2019 Jun 18;139(25):e1082-e1143. Epub 2018 Nov 10 doi: 10.1161/CIR.0000000000000625. PMID: 30586774Free PMC Article
Guaraldi F, Rossetto Giaccherino R, Lanfranco F, Motta G, Gori D, Arvat E, Ghigo E, Giordano R
Front Horm Res 2017;48:133-146. Epub 2017 Feb 28 doi: 10.1159/000452912. PMID: 28245458
Julier C, Nicolino M
Orphanet J Rare Dis 2010 Nov 4;5:29. doi: 10.1186/1750-1172-5-29. PMID: 21050479Free PMC Article
Marshall JD, Beck S, Maffei P, Naggert JK
Eur J Hum Genet 2007 Dec;15(12):1193-202. Epub 2007 Oct 17 doi: 10.1038/sj.ejhg.5201933. PMID: 17940554

Diagnosis

Purushothaman I, Zagon IS, Sassani JW, McLaughlin PJ
Biochem Pharmacol 2021 Oct;192:114712. Epub 2021 Jul 26 doi: 10.1016/j.bcp.2021.114712. PMID: 34324868Free PMC Article
Brandhorst S
Geroscience 2021 Jun;43(3):1201-1216. Epub 2021 Jan 7 doi: 10.1007/s11357-020-00317-7. PMID: 33410090Free PMC Article
Grundy SM, Stone NJ, Bailey AL, Beam C, Birtcher KK, Blumenthal RS, Braun LT, de Ferranti S, Faiella-Tommasino J, Forman DE, Goldberg R, Heidenreich PA, Hlatky MA, Jones DW, Lloyd-Jones D, Lopez-Pajares N, Ndumele CE, Orringer CE, Peralta CA, Saseen JJ, Smith SC Jr, Sperling L, Virani SS, Yeboah J
Circulation 2019 Jun 18;139(25):e1082-e1143. Epub 2018 Nov 10 doi: 10.1161/CIR.0000000000000625. PMID: 30586774Free PMC Article
Julier C, Nicolino M
Orphanet J Rare Dis 2010 Nov 4;5:29. doi: 10.1186/1750-1172-5-29. PMID: 21050479Free PMC Article
Marshall JD, Beck S, Maffei P, Naggert JK
Eur J Hum Genet 2007 Dec;15(12):1193-202. Epub 2007 Oct 17 doi: 10.1038/sj.ejhg.5201933. PMID: 17940554

Therapy

Purushothaman I, Zagon IS, Sassani JW, McLaughlin PJ
Biochem Pharmacol 2021 Oct;192:114712. Epub 2021 Jul 26 doi: 10.1016/j.bcp.2021.114712. PMID: 34324868Free PMC Article
Grivas P, Khaki AR, Wise-Draper TM, French B, Hennessy C, Hsu CY, Shyr Y, Li X, Choueiri TK, Painter CA, Peters S, Rini BI, Thompson MA, Mishra S, Rivera DR, Acoba JD, Abidi MZ, Bakouny Z, Bashir B, Bekaii-Saab T, Berg S, Bernicker EH, Bilen MA, Bindal P, Bishnoi R, Bouganim N, Bowles DW, Cabal A, Caimi PF, Chism DD, Crowell J, Curran C, Desai A, Dixon B, Doroshow DB, Durbin EB, Elkrief A, Farmakiotis D, Fazio A, Fecher LA, Flora DB, Friese CR, Fu J, Gadgeel SM, Galsky MD, Gill DM, Glover MJ, Goyal S, Grover P, Gulati S, Gupta S, Halabi S, Halfdanarson TR, Halmos B, Hausrath DJ, Hawley JE, Hsu E, Huynh-Le M, Hwang C, Jani C, Jayaraj A, Johnson DB, Kasi A, Khan H, Koshkin VS, Kuderer NM, Kwon DH, Lammers PE, Li A, Loaiza-Bonilla A, Low CA, Lustberg MB, Lyman GH, McKay RR, McNair C, Menon H, Mesa RA, Mico V, Mundt D, Nagaraj G, Nakasone ES, Nakayama J, Nizam A, Nock NL, Park C, Patel JM, Patel KG, Peddi P, Pennell NA, Piper-Vallillo AJ, Puc M, Ravindranathan D, Reeves ME, Reuben DY, Rosenstein L, Rosovsky RP, Rubinstein SM, Salazar M, Schmidt AL, Schwartz GK, Shah MR, Shah SA, Shah C, Shaya JA, Singh SRK, Smits M, Stockerl-Goldstein KE, Stover DG, Streckfuss M, Subbiah S, Tachiki L, Tadesse E, Thakkar A, Tucker MD, Verma AK, Vinh DC, Weiss M, Wu JT, Wulff-Burchfield E, Xie Z, Yu PP, Zhang T, Zhou AY, Zhu H, Zubiri L, Shah DP, Warner JL, Lopes G
Ann Oncol 2021 Jun;32(6):787-800. Epub 2021 Mar 19 doi: 10.1016/j.annonc.2021.02.024. PMID: 33746047Free PMC Article
Rochoy M, Rivas V, Chazard E, Decarpentry E, Saudemont G, Hazard PA, Puisieux F, Gautier S, Bordet R
J Prev Alzheimers Dis 2019;6(2):121-134. doi: 10.14283/jpad.2019.7. PMID: 30756119
Grundy SM, Stone NJ, Bailey AL, Beam C, Birtcher KK, Blumenthal RS, Braun LT, de Ferranti S, Faiella-Tommasino J, Forman DE, Goldberg R, Heidenreich PA, Hlatky MA, Jones DW, Lloyd-Jones D, Lopez-Pajares N, Ndumele CE, Orringer CE, Peralta CA, Saseen JJ, Smith SC Jr, Sperling L, Virani SS, Yeboah J
Circulation 2019 Jun 18;139(25):e1082-e1143. Epub 2018 Nov 10 doi: 10.1161/CIR.0000000000000625. PMID: 30586774Free PMC Article
Karam JH
Endocrinol Metab Clin North Am 1992 Jun;21(2):329-50. PMID: 1612069

Prognosis

Höybye C, Tauber M
J Clin Endocrinol Metab 2022 May 17;107(6):1698-1705. doi: 10.1210/clinem/dgac082. PMID: 35150573Free PMC Article
Rochoy M, Rivas V, Chazard E, Decarpentry E, Saudemont G, Hazard PA, Puisieux F, Gautier S, Bordet R
J Prev Alzheimers Dis 2019;6(2):121-134. doi: 10.14283/jpad.2019.7. PMID: 30756119
Grundy SM, Stone NJ, Bailey AL, Beam C, Birtcher KK, Blumenthal RS, Braun LT, de Ferranti S, Faiella-Tommasino J, Forman DE, Goldberg R, Heidenreich PA, Hlatky MA, Jones DW, Lloyd-Jones D, Lopez-Pajares N, Ndumele CE, Orringer CE, Peralta CA, Saseen JJ, Smith SC Jr, Sperling L, Virani SS, Yeboah J
Circulation 2019 Jun 18;139(25):e1082-e1143. Epub 2018 Nov 10 doi: 10.1161/CIR.0000000000000625. PMID: 30586774Free PMC Article
Julier C, Nicolino M
Orphanet J Rare Dis 2010 Nov 4;5:29. doi: 10.1186/1750-1172-5-29. PMID: 21050479Free PMC Article
Marshall JD, Beck S, Maffei P, Naggert JK
Eur J Hum Genet 2007 Dec;15(12):1193-202. Epub 2007 Oct 17 doi: 10.1038/sj.ejhg.5201933. PMID: 17940554

Clinical prediction guides

Sugisawa C, Taniyama M, Sato T, Takahashi Y, Hasegawa T, Narumi S
Endocr J 2022 Jul 28;69(7):831-838. Epub 2022 Mar 2 doi: 10.1507/endocrj.EJ21-0779. PMID: 35236788
Abusrair A, AlHamoud I, Bohlega S
J Clin Neurophysiol 2022 Sep 1;39(6):504-509. Epub 2020 Dec 30 doi: 10.1097/WNP.0000000000000811. PMID: 33417382
Liao P, Vajdic C, Trollor J, Reppermund S
PLoS One 2021;16(8):e0256294. Epub 2021 Aug 24 doi: 10.1371/journal.pone.0256294. PMID: 34428249Free PMC Article
Purushothaman I, Zagon IS, Sassani JW, McLaughlin PJ
Biochem Pharmacol 2021 Oct;192:114712. Epub 2021 Jul 26 doi: 10.1016/j.bcp.2021.114712. PMID: 34324868Free PMC Article
Grundy SM, Stone NJ, Bailey AL, Beam C, Birtcher KK, Blumenthal RS, Braun LT, de Ferranti S, Faiella-Tommasino J, Forman DE, Goldberg R, Heidenreich PA, Hlatky MA, Jones DW, Lloyd-Jones D, Lopez-Pajares N, Ndumele CE, Orringer CE, Peralta CA, Saseen JJ, Smith SC Jr, Sperling L, Virani SS, Yeboah J
Circulation 2019 Jun 18;139(25):e1082-e1143. Epub 2018 Nov 10 doi: 10.1161/CIR.0000000000000625. PMID: 30586774Free PMC Article

Recent systematic reviews

van Abswoude DH, Pellikaan K, Nguyen N, Rosenberg AGW, Davidse K, Hoekstra FME, Rood IM, Poitou C, Grugni G, Høybye C, Markovic TP, Caixàs A, Crinò A, van den Berg SAA, van der Lely AJ, de Graaff LCG
Front Endocrinol (Lausanne) 2023;14:1168648. Epub 2023 Jul 21 doi: 10.3389/fendo.2023.1168648. PMID: 37547314Free PMC Article
Liao P, Vajdic C, Trollor J, Reppermund S
PLoS One 2021;16(8):e0256294. Epub 2021 Aug 24 doi: 10.1371/journal.pone.0256294. PMID: 34428249Free PMC Article
Grundy SM, Stone NJ, Bailey AL, Beam C, Birtcher KK, Blumenthal RS, Braun LT, de Ferranti S, Faiella-Tommasino J, Forman DE, Goldberg R, Heidenreich PA, Hlatky MA, Jones DW, Lloyd-Jones D, Lopez-Pajares N, Ndumele CE, Orringer CE, Peralta CA, Saseen JJ, Smith SC Jr, Sperling L, Virani SS, Yeboah J
Circulation 2019 Jun 18;139(25):e1082-e1143. Epub 2018 Nov 10 doi: 10.1161/CIR.0000000000000625. PMID: 30586774Free PMC Article
Agopiantz M, Corbonnois P, Sorlin A, Bonnet C, Klein M, Hubert N, Pascal-Vigneron V, Jonveaux P, Cuny T, Leheup B, Weryha G
J Endocrinol Invest 2014 Jan;37(1):1-7. Epub 2014 Jan 8 doi: 10.1007/s40618-013-0001-5. PMID: 24464444

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