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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.
See: This record
Unknown inheritance (Orphanet)
 
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

Missed Diagnoses and Health Problems in Adults With Prader-Willi Syndrome: Recommendations for Screening and Treatment.
Pellikaan K, Rosenberg AGW, Kattentidt-Mouravieva AA, Kersseboom R, Bos-Roubos AG, Veen-Roelofs JMC, van Wieringen N, Hoekstra FME, van den Berg SAA, van der Lely AJ, de Graaff LCG
J Clin Endocrinol Metab 2020 Dec 1;105(12):e4671-87. doi: 10.1210/clinem/dgaa621. PMID: 32877518Free PMC Article
2018 AHA/ACC/AACVPR/AAPA/ABC/ACPM/ADA/AGS/APhA/ASPC/NLA/PCNA Guideline on the Management of Blood Cholesterol: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
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
Type II diabetes and syndrome X. Pathogenesis and glycemic management.
Karam JH
Endocrinol Metab Clin North Am 1992 Jun;21(2):329-50. PMID: 1612069

Recent clinical studies

Etiology

Approach to the Patient With Prader-Willi Syndrome.
Höybye C, Tauber M
J Clin Endocrinol Metab 2022 May 17;107(6):1698-1705. doi: 10.1210/clinem/dgac082. PMID: 35150573Free PMC Article
Syndromic Disorders Caused by Disturbed Human Imprinting.
Carli D, Riberi E, Ferrero GB, Mussa A
J Clin Res Pediatr Endocrinol 2020 Mar 19;12(1):1-16. Epub 2019 Apr 10 doi: 10.4274/jcrpe.galenos.2019.2018.0249. PMID: 30968677Free PMC Article
2018 AHA/ACC/AACVPR/AAPA/ABC/ACPM/ADA/AGS/APhA/ASPC/NLA/PCNA Guideline on the Management of Blood Cholesterol: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
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
Wolcott-Rallison syndrome.
Julier C, Nicolino M
Orphanet J Rare Dis 2010 Nov 4;5:29. doi: 10.1186/1750-1172-5-29. PMID: 21050479Free PMC Article
Rabson-Mendenhall syndrome.
Parveen BA, Sindhuja R
Int J Dermatol 2008 Aug;47(8):839-41. doi: 10.1111/j.1365-4632.2008.03591.x. PMID: 18717867

Diagnosis

Fasting and fasting-mimicking diets for chemotherapy augmentation.
Brandhorst S
Geroscience 2021 Jun;43(3):1201-1216. Epub 2021 Jan 7 doi: 10.1007/s11357-020-00317-7. PMID: 33410090Free PMC Article
2018 AHA/ACC/AACVPR/AAPA/ABC/ACPM/ADA/AGS/APhA/ASPC/NLA/PCNA Guideline on the Management of Blood Cholesterol: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
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
Wolcott-Rallison syndrome.
Julier C, Nicolino M
Orphanet J Rare Dis 2010 Nov 4;5:29. doi: 10.1186/1750-1172-5-29. PMID: 21050479Free PMC Article
Rabson-Mendenhall syndrome.
Parveen BA, Sindhuja R
Int J Dermatol 2008 Aug;47(8):839-41. doi: 10.1111/j.1365-4632.2008.03591.x. PMID: 18717867
Alström syndrome.
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

Ocular surface complications in diabetes: The interrelationship between insulin and enkephalin.
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
2018 AHA/ACC/AACVPR/AAPA/ABC/ACPM/ADA/AGS/APhA/ASPC/NLA/PCNA Guideline on the Management of Blood Cholesterol: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
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
Genetic factors in isolated and syndromic esophageal atresia.
Geneviève D, de Pontual L, Amiel J, Lyonnet S
J Pediatr Gastroenterol Nutr 2011 May;52 Suppl 1:S6-8. doi: 10.1097/MPG.0b013e318213316a. PMID: 21499049
Current concepts of diabetes mellitus in childhood: a review.
Tuchinda C
J Med Assoc Thai 1974 Jan;57(1):22-7. PMID: 4592497
Hyperosmolality complicating diabetes mellitus in childhood.
Rubin HM, Kramer R, Drash A
J Pediatr 1969 Feb;74(2):177-86. doi: 10.1016/s0022-3476(69)80065-x. PMID: 4236527

Prognosis

Approach to the Patient With Prader-Willi Syndrome.
Höybye C, Tauber M
J Clin Endocrinol Metab 2022 May 17;107(6):1698-1705. doi: 10.1210/clinem/dgac082. PMID: 35150573Free PMC Article
2018 AHA/ACC/AACVPR/AAPA/ABC/ACPM/ADA/AGS/APhA/ASPC/NLA/PCNA Guideline on the Management of Blood Cholesterol: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
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
Wolcott-Rallison syndrome.
Julier C, Nicolino M
Orphanet J Rare Dis 2010 Nov 4;5:29. doi: 10.1186/1750-1172-5-29. PMID: 21050479Free PMC Article
Rabson-Mendenhall syndrome.
Parveen BA, Sindhuja R
Int J Dermatol 2008 Aug;47(8):839-41. doi: 10.1111/j.1365-4632.2008.03591.x. PMID: 18717867
Alström syndrome.
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

Prevalence and incidence of physical health conditions in people with intellectual disability - a systematic review.
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
Ocular surface complications in diabetes: The interrelationship between insulin and enkephalin.
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
Woodhouse-Sakati syndrome in a family is associated with a homozygous start loss mutation in the DCAF17 gene.
Shah K, Jan A, Ahmad F, Basit S, Ramzan K, Ahmad W
Clin Exp Dermatol 2020 Mar;45(2):159-164. Epub 2019 Aug 28 doi: 10.1111/ced.14046. PMID: 31323129
2018 AHA/ACC/AACVPR/AAPA/ABC/ACPM/ADA/AGS/APhA/ASPC/NLA/PCNA Guideline on the Management of Blood Cholesterol: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
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
Rett syndrome--observational study of 33 families.
Murphy M, Naidu S, Moser HW
Am J Med Genet Suppl 1986;1:73-6. doi: 10.1002/ajmg.1320250508. PMID: 3087205

Recent systematic reviews

Maternal and perinatal outcomes in twin pregnancies following assisted reproduction: a systematic review and meta-analysis involving 802 462 pregnancies.
Marleen S, Kodithuwakku W, Nandasena R, Mohideen S, Allotey J, Fernández-García S, Gaetano-Gil A, Ruiz-Calvo G, Aquilina J, Khalil A, Bhide P, Zamora J, Thangaratinam S
Hum Reprod Update 2024 May 2;30(3):309-322. doi: 10.1093/humupd/dmae002. PMID: 38345641Free PMC Article
Kidney disease in adults with Prader-Willi syndrome: international cohort study and systematic literature review.
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
Prevalence and incidence of physical health conditions in people with intellectual disability - a systematic review.
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
2018 AHA/ACC/AACVPR/AAPA/ABC/ACPM/ADA/AGS/APhA/ASPC/NLA/PCNA Guideline on the Management of Blood Cholesterol: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
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
Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature.
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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