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Hooft disease

MedGen UID:
75686
Concept ID:
C0268479
Disease or Syndrome
Synonyms: Delayed physical development, erythematosquamous eruption, opaque leukonychia, intellectual disability, and low serum lipids; Hooft's syndrome
SNOMED CT: Hooft syndrome (32123005); Hooft's syndrome (32123005); Hypolipidemia syndrome (32123005); Hypolipemia-tryptophan abnormality (32123005)
 
Monarch Initiative: MONDO:0009355
OMIM®: 236300

Clinical features

From HPO
Growth abnormality
MedGen UID:
808205
Concept ID:
C0262361
Finding
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Abnormality of metabolism/homeostasis
MedGen UID:
867398
Concept ID:
C4021768
Finding
Leukonychia
MedGen UID:
68698
Concept ID:
C0240182
Finding
White discoloration of the nails.
Rod-cone dystrophy
MedGen UID:
1632921
Concept ID:
C4551714
Disease or Syndrome
An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.

Professional guidelines

PubMed

Gralnek IM, Stanley AJ, Morris AJ, Camus M, Lau J, Lanas A, Laursen SB, Radaelli F, Papanikolaou IS, Cúrdia Gonçalves T, Dinis-Ribeiro M, Awadie H, Braun G, de Groot N, Udd M, Sanchez-Yague A, Neeman Z, van Hooft JE
Endoscopy 2021 Mar;53(3):300-332. Epub 2021 Feb 10 doi: 10.1055/a-1369-5274. PMID: 33567467
Arvanitakis M, Ockenga J, Bezmarevic M, Gianotti L, Krznarić Ž, Lobo DN, Löser C, Madl C, Meier R, Phillips M, Rasmussen HH, Van Hooft JE, Bischoff SC
Clin Nutr 2020 Mar;39(3):612-631. Epub 2020 Jan 22 doi: 10.1016/j.clnu.2020.01.004. PMID: 32008871
Goggins M, Overbeek KA, Brand R, Syngal S, Del Chiaro M, Bartsch DK, Bassi C, Carrato A, Farrell J, Fishman EK, Fockens P, Gress TM, van Hooft JE, Hruban RH, Kastrinos F, Klein A, Lennon AM, Lucas A, Park W, Rustgi A, Simeone D, Stoffel E, Vasen HFA, Cahen DL, Canto MI, Bruno M; International Cancer of the Pancreas Screening (CAPS) consortium
Gut 2020 Jan;69(1):7-17. Epub 2019 Oct 31 doi: 10.1136/gutjnl-2019-319352. PMID: 31672839Free PMC Article

Recent clinical studies

Etiology

Triantafyllou K, Gkolfakis P, Gralnek IM, Oakland K, Manes G, Radaelli F, Awadie H, Camus Duboc M, Christodoulou D, Fedorov E, Guy RJ, Hollenbach M, Ibrahim M, Neeman Z, Regge D, Rodriguez de Santiago E, Tham TC, Thelin-Schmidt P, van Hooft JE
Endoscopy 2021 Aug;53(8):850-868. Epub 2021 Jun 1 doi: 10.1055/a-1496-8969. PMID: 34062566
Gralnek IM, Stanley AJ, Morris AJ, Camus M, Lau J, Lanas A, Laursen SB, Radaelli F, Papanikolaou IS, Cúrdia Gonçalves T, Dinis-Ribeiro M, Awadie H, Braun G, de Groot N, Udd M, Sanchez-Yague A, Neeman Z, van Hooft JE
Endoscopy 2021 Mar;53(3):300-332. Epub 2021 Feb 10 doi: 10.1055/a-1369-5274. PMID: 33567467
Arvanitakis M, Ockenga J, Bezmarevic M, Gianotti L, Krznarić Ž, Lobo DN, Löser C, Madl C, Meier R, Phillips M, Rasmussen HH, Van Hooft JE, Bischoff SC
Clin Nutr 2020 Mar;39(3):612-631. Epub 2020 Jan 22 doi: 10.1016/j.clnu.2020.01.004. PMID: 32008871
Goggins M, Overbeek KA, Brand R, Syngal S, Del Chiaro M, Bartsch DK, Bassi C, Carrato A, Farrell J, Fishman EK, Fockens P, Gress TM, van Hooft JE, Hruban RH, Kastrinos F, Klein A, Lennon AM, Lucas A, Park W, Rustgi A, Simeone D, Stoffel E, Vasen HFA, Cahen DL, Canto MI, Bruno M; International Cancer of the Pancreas Screening (CAPS) consortium
Gut 2020 Jan;69(1):7-17. Epub 2019 Oct 31 doi: 10.1136/gutjnl-2019-319352. PMID: 31672839Free PMC Article
Pimentel-Nunes P, Libânio D, Marcos-Pinto R, Areia M, Leja M, Esposito G, Garrido M, Kikuste I, Megraud F, Matysiak-Budnik T, Annibale B, Dumonceau JM, Barros R, Fléjou JF, Carneiro F, van Hooft JE, Kuipers EJ, Dinis-Ribeiro M
Endoscopy 2019 Apr;51(4):365-388. Epub 2019 Mar 6 doi: 10.1055/a-0859-1883. PMID: 30841008

Diagnosis

Deprez PH, Moons LMG, OʼToole D, Gincul R, Seicean A, Pimentel-Nunes P, Fernández-Esparrach G, Polkowski M, Vieth M, Borbath I, Moreels TG, Nieveen van Dijkum E, Blay JY, van Hooft JE
Endoscopy 2022 Apr;54(4):412-429. Epub 2022 Feb 18 doi: 10.1055/a-1751-5742. PMID: 35180797
Triantafyllou K, Gkolfakis P, Gralnek IM, Oakland K, Manes G, Radaelli F, Awadie H, Camus Duboc M, Christodoulou D, Fedorov E, Guy RJ, Hollenbach M, Ibrahim M, Neeman Z, Regge D, Rodriguez de Santiago E, Tham TC, Thelin-Schmidt P, van Hooft JE
Endoscopy 2021 Aug;53(8):850-868. Epub 2021 Jun 1 doi: 10.1055/a-1496-8969. PMID: 34062566
Gralnek IM, Stanley AJ, Morris AJ, Camus M, Lau J, Lanas A, Laursen SB, Radaelli F, Papanikolaou IS, Cúrdia Gonçalves T, Dinis-Ribeiro M, Awadie H, Braun G, de Groot N, Udd M, Sanchez-Yague A, Neeman Z, van Hooft JE
Endoscopy 2021 Mar;53(3):300-332. Epub 2021 Feb 10 doi: 10.1055/a-1369-5274. PMID: 33567467
Goggins M, Overbeek KA, Brand R, Syngal S, Del Chiaro M, Bartsch DK, Bassi C, Carrato A, Farrell J, Fishman EK, Fockens P, Gress TM, van Hooft JE, Hruban RH, Kastrinos F, Klein A, Lennon AM, Lucas A, Park W, Rustgi A, Simeone D, Stoffel E, Vasen HFA, Cahen DL, Canto MI, Bruno M; International Cancer of the Pancreas Screening (CAPS) consortium
Gut 2020 Jan;69(1):7-17. Epub 2019 Oct 31 doi: 10.1136/gutjnl-2019-319352. PMID: 31672839Free PMC Article
Pimentel-Nunes P, Libânio D, Marcos-Pinto R, Areia M, Leja M, Esposito G, Garrido M, Kikuste I, Megraud F, Matysiak-Budnik T, Annibale B, Dumonceau JM, Barros R, Fléjou JF, Carneiro F, van Hooft JE, Kuipers EJ, Dinis-Ribeiro M
Endoscopy 2019 Apr;51(4):365-388. Epub 2019 Mar 6 doi: 10.1055/a-0859-1883. PMID: 30841008

Therapy

Dinnes J, Sharma P, Berhane S, van Wyk SS, Nyaaba N, Domen J, Taylor M, Cunningham J, Davenport C, Dittrich S, Emperador D, Hooft L, Leeflang MM, McInnes MD, Spijker R, Verbakel JY, Takwoingi Y, Taylor-Phillips S, Van den Bruel A, Deeks JJ; Cochrane COVID-19 Diagnostic Test Accuracy Group
Cochrane Database Syst Rev 2022 Jul 22;7(7):CD013705. doi: 10.1002/14651858.CD013705.pub3. PMID: 35866452Free PMC Article
Versteijne E, Suker M, Groothuis K, Akkermans-Vogelaar JM, Besselink MG, Bonsing BA, Buijsen J, Busch OR, Creemers GM, van Dam RM, Eskens FALM, Festen S, de Groot JWB, Groot Koerkamp B, de Hingh IH, Homs MYV, van Hooft JE, Kerver ED, Luelmo SAC, Neelis KJ, Nuyttens J, Paardekooper GMRM, Patijn GA, van der Sangen MJC, de Vos-Geelen J, Wilmink JW, Zwinderman AH, Punt CJ, van Eijck CH, van Tienhoven G; Dutch Pancreatic Cancer Group
J Clin Oncol 2020 Jun 1;38(16):1763-1773. Epub 2020 Feb 27 doi: 10.1200/JCO.19.02274. PMID: 32105518Free PMC Article
Issa Y, Kempeneers MA, Bruno MJ, Fockens P, Poley JW, Ahmed Ali U, Bollen TL, Busch OR, Dejong CH, van Duijvendijk P, van Dullemen HM, van Eijck CH, van Goor H, Hadithi M, Haveman JW, Keulemans Y, Nieuwenhuijs VB, Poen AC, Rauws EA, Tan AC, Thijs W, Timmer R, Witteman BJ, Besselink MG, van Hooft JE, van Santvoort HC, Dijkgraaf MG, Boermeester MA; Dutch Pancreatitis Study Group
JAMA 2020 Jan 21;323(3):237-247. doi: 10.1001/jama.2019.20967. PMID: 31961419Free PMC Article
Veld JV, Amelung FJ, Borstlap WAA, van Halsema EE, Consten ECJ, Siersema PD, Ter Borg F, van der Zaag ES, de Wilt JHW, Fockens P, Bemelman WA, van Hooft JE, Tanis PJ; Dutch Snapshot Research Group
JAMA Surg 2020 Mar 1;155(3):206-215. doi: 10.1001/jamasurg.2019.5466. PMID: 31913422Free PMC Article
Hassan C, East J, Radaelli F, Spada C, Benamouzig R, Bisschops R, Bretthauer M, Dekker E, Dinis-Ribeiro M, Ferlitsch M, Fuccio L, Awadie H, Gralnek I, Jover R, Kaminski MF, Pellisé M, Triantafyllou K, Vanella G, Mangas-Sanjuan C, Frazzoni L, Van Hooft JE, Dumonceau JM
Endoscopy 2019 Aug;51(8):775-794. Epub 2019 Jul 11 doi: 10.1055/a-0959-0505. PMID: 31295746

Prognosis

Dinnes J, Sharma P, Berhane S, van Wyk SS, Nyaaba N, Domen J, Taylor M, Cunningham J, Davenport C, Dittrich S, Emperador D, Hooft L, Leeflang MM, McInnes MD, Spijker R, Verbakel JY, Takwoingi Y, Taylor-Phillips S, Van den Bruel A, Deeks JJ; Cochrane COVID-19 Diagnostic Test Accuracy Group
Cochrane Database Syst Rev 2022 Jul 22;7(7):CD013705. doi: 10.1002/14651858.CD013705.pub3. PMID: 35866452Free PMC Article
Kröner PT, Engels MM, Glicksberg BS, Johnson KW, Mzaik O, van Hooft JE, Wallace MB, El-Serag HB, Krittanawong C
World J Gastroenterol 2021 Oct 28;27(40):6794-6824. doi: 10.3748/wjg.v27.i40.6794. PMID: 34790008Free PMC Article
Wynants L, Van Calster B, Collins GS, Riley RD, Heinze G, Schuit E, Bonten MMJ, Dahly DL, Damen JAA, Debray TPA, de Jong VMT, De Vos M, Dhiman P, Haller MC, Harhay MO, Henckaerts L, Heus P, Kammer M, Kreuzberger N, Lohmann A, Luijken K, Ma J, Martin GP, McLernon DJ, Andaur Navarro CL, Reitsma JB, Sergeant JC, Shi C, Skoetz N, Smits LJM, Snell KIE, Sperrin M, Spijker R, Steyerberg EW, Takada T, Tzoulaki I, van Kuijk SMJ, van Bussel B, van der Horst ICC, van Royen FS, Verbakel JY, Wallisch C, Wilkinson J, Wolff R, Hooft L, Moons KGM, van Smeden M
BMJ 2020 Apr 7;369:m1328. doi: 10.1136/bmj.m1328. PMID: 32265220Free PMC Article
Versteijne E, Suker M, Groothuis K, Akkermans-Vogelaar JM, Besselink MG, Bonsing BA, Buijsen J, Busch OR, Creemers GM, van Dam RM, Eskens FALM, Festen S, de Groot JWB, Groot Koerkamp B, de Hingh IH, Homs MYV, van Hooft JE, Kerver ED, Luelmo SAC, Neelis KJ, Nuyttens J, Paardekooper GMRM, Patijn GA, van der Sangen MJC, de Vos-Geelen J, Wilmink JW, Zwinderman AH, Punt CJ, van Eijck CH, van Tienhoven G; Dutch Pancreatic Cancer Group
J Clin Oncol 2020 Jun 1;38(16):1763-1773. Epub 2020 Feb 27 doi: 10.1200/JCO.19.02274. PMID: 32105518Free PMC Article
Damen JA, Hooft L, Schuit E, Debray TP, Collins GS, Tzoulaki I, Lassale CM, Siontis GC, Chiocchia V, Roberts C, Schlüssel MM, Gerry S, Black JA, Heus P, van der Schouw YT, Peelen LM, Moons KG
BMJ 2016 May 16;353:i2416. doi: 10.1136/bmj.i2416. PMID: 27184143Free PMC Article

Clinical prediction guides

Kröner PT, Engels MM, Glicksberg BS, Johnson KW, Mzaik O, van Hooft JE, Wallace MB, El-Serag HB, Krittanawong C
World J Gastroenterol 2021 Oct 28;27(40):6794-6824. doi: 10.3748/wjg.v27.i40.6794. PMID: 34790008Free PMC Article
Triantafyllou K, Gkolfakis P, Gralnek IM, Oakland K, Manes G, Radaelli F, Awadie H, Camus Duboc M, Christodoulou D, Fedorov E, Guy RJ, Hollenbach M, Ibrahim M, Neeman Z, Regge D, Rodriguez de Santiago E, Tham TC, Thelin-Schmidt P, van Hooft JE
Endoscopy 2021 Aug;53(8):850-868. Epub 2021 Jun 1 doi: 10.1055/a-1496-8969. PMID: 34062566
Gralnek IM, Stanley AJ, Morris AJ, Camus M, Lau J, Lanas A, Laursen SB, Radaelli F, Papanikolaou IS, Cúrdia Gonçalves T, Dinis-Ribeiro M, Awadie H, Braun G, de Groot N, Udd M, Sanchez-Yague A, Neeman Z, van Hooft JE
Endoscopy 2021 Mar;53(3):300-332. Epub 2021 Feb 10 doi: 10.1055/a-1369-5274. PMID: 33567467
Wynants L, Van Calster B, Collins GS, Riley RD, Heinze G, Schuit E, Bonten MMJ, Dahly DL, Damen JAA, Debray TPA, de Jong VMT, De Vos M, Dhiman P, Haller MC, Harhay MO, Henckaerts L, Heus P, Kammer M, Kreuzberger N, Lohmann A, Luijken K, Ma J, Martin GP, McLernon DJ, Andaur Navarro CL, Reitsma JB, Sergeant JC, Shi C, Skoetz N, Smits LJM, Snell KIE, Sperrin M, Spijker R, Steyerberg EW, Takada T, Tzoulaki I, van Kuijk SMJ, van Bussel B, van der Horst ICC, van Royen FS, Verbakel JY, Wallisch C, Wilkinson J, Wolff R, Hooft L, Moons KGM, van Smeden M
BMJ 2020 Apr 7;369:m1328. doi: 10.1136/bmj.m1328. PMID: 32265220Free PMC Article
Damen JA, Hooft L, Schuit E, Debray TP, Collins GS, Tzoulaki I, Lassale CM, Siontis GC, Chiocchia V, Roberts C, Schlüssel MM, Gerry S, Black JA, Heus P, van der Schouw YT, Peelen LM, Moons KG
BMJ 2016 May 16;353:i2416. doi: 10.1136/bmj.i2416. PMID: 27184143Free PMC Article

Recent systematic reviews

Kops SEP, Heus P, Korevaar DA, Damen JAA, Idema DL, Verhoeven RLJ, Annema JT, Hooft L, van der Heijden EHFM
Lung Cancer 2023 Jun;180:107196. Epub 2023 Apr 19 doi: 10.1016/j.lungcan.2023.107196. PMID: 37130440
Fox T, Geppert J, Dinnes J, Scandrett K, Bigio J, Sulis G, Hettiarachchi D, Mathangasinghe Y, Weeratunga P, Wickramasinghe D, Bergman H, Buckley BS, Probyn K, Sguassero Y, Davenport C, Cunningham J, Dittrich S, Emperador D, Hooft L, Leeflang MM, McInnes MD, Spijker R, Struyf T, Van den Bruel A, Verbakel JY, Takwoingi Y, Taylor-Phillips S, Deeks JJ; Cochrane COVID-19 Diagnostic Test Accuracy Group
Cochrane Database Syst Rev 2022 Nov 17;11(11):CD013652. doi: 10.1002/14651858.CD013652.pub2. PMID: 36394900Free PMC Article
Dinnes J, Sharma P, Berhane S, van Wyk SS, Nyaaba N, Domen J, Taylor M, Cunningham J, Davenport C, Dittrich S, Emperador D, Hooft L, Leeflang MM, McInnes MD, Spijker R, Verbakel JY, Takwoingi Y, Taylor-Phillips S, Van den Bruel A, Deeks JJ; Cochrane COVID-19 Diagnostic Test Accuracy Group
Cochrane Database Syst Rev 2022 Jul 22;7(7):CD013705. doi: 10.1002/14651858.CD013705.pub3. PMID: 35866452Free PMC Article
Wynants L, Van Calster B, Collins GS, Riley RD, Heinze G, Schuit E, Bonten MMJ, Dahly DL, Damen JAA, Debray TPA, de Jong VMT, De Vos M, Dhiman P, Haller MC, Harhay MO, Henckaerts L, Heus P, Kammer M, Kreuzberger N, Lohmann A, Luijken K, Ma J, Martin GP, McLernon DJ, Andaur Navarro CL, Reitsma JB, Sergeant JC, Shi C, Skoetz N, Smits LJM, Snell KIE, Sperrin M, Spijker R, Steyerberg EW, Takada T, Tzoulaki I, van Kuijk SMJ, van Bussel B, van der Horst ICC, van Royen FS, Verbakel JY, Wallisch C, Wilkinson J, Wolff R, Hooft L, Moons KGM, van Smeden M
BMJ 2020 Apr 7;369:m1328. doi: 10.1136/bmj.m1328. PMID: 32265220Free PMC Article
Damen JA, Hooft L, Schuit E, Debray TP, Collins GS, Tzoulaki I, Lassale CM, Siontis GC, Chiocchia V, Roberts C, Schlüssel MM, Gerry S, Black JA, Heus P, van der Schouw YT, Peelen LM, Moons KG
BMJ 2016 May 16;353:i2416. doi: 10.1136/bmj.i2416. PMID: 27184143Free PMC Article

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