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Deafness-small bowel diverticulosis-neuropathy syndrome

MedGen UID:
347426
Concept ID:
C1857338
Disease or Syndrome
Synonyms: Groll Hirschowitz syndrome; Nerve type deafness with mesenteric diverticula of small bowel and progressive sensory neuropathy
SNOMED CT: Deafness, small bowel diverticulosis, neuropathy syndrome (733071009); Groll Hirschowitz syndrome (733071009)
 
Monarch Initiative: MONDO:0009086
OMIM®: 221400
Orphanet: ORPHA3217

Definition

Syndrome with characteristics of progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities (progressive loss of gastric motility, small bowel diverticulosis). It has been described in five patients (three sisters in a family and two sisters born to consanguineous parents). This syndrome is transmitted as an autosomal recessive trait. [from SNOMEDCT_US]

Clinical features

From HPO
Tachycardia
MedGen UID:
21453
Concept ID:
C0039231
Finding
A rapid heartrate that exceeds the range of the normal resting heartrate for age.
Small bowel diverticula
MedGen UID:
120601
Concept ID:
C0267498
Disease or Syndrome
Fat malabsorption
MedGen UID:
108215
Concept ID:
C0554103
Pathologic Function
Abnormality of the absorption of fat from the gastrointestinal tract.
Jejunoileal ulceration
MedGen UID:
870775
Concept ID:
C4025232
Anatomical Abnormality
Sensorineural hearing loss disorder
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Peripheral neuropathy
MedGen UID:
18386
Concept ID:
C0031117
Disease or Syndrome
Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.
Hypoproteinemia
MedGen UID:
581229
Concept ID:
C0392692
Finding
A decreased concentration of protein in the blood.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDeafness-small bowel diverticulosis-neuropathy syndrome
Follow this link to review classifications for Deafness-small bowel diverticulosis-neuropathy syndrome in Orphanet.

Professional guidelines

PubMed

Camilleri M
JAMA 2021 Mar 2;325(9):865-877. doi: 10.1001/jama.2020.22532. PMID: 33651094
Lacy BE, Pimentel M, Brenner DM, Chey WD, Keefer LA, Long MD, Moshiree B
Am J Gastroenterol 2021 Jan 1;116(1):17-44. doi: 10.14309/ajg.0000000000001036. PMID: 33315591
Rao SSC, Bhagatwala J
Clin Transl Gastroenterol 2019 Oct;10(10):e00078. doi: 10.14309/ctg.0000000000000078. PMID: 31584459Free PMC Article

Recent clinical studies

Etiology

Billiauws L, Maggiori L, Joly F, Panis Y
J Visc Surg 2018 Sep;155(4):283-291. Epub 2018 Jul 21 doi: 10.1016/j.jviscsurg.2017.12.012. PMID: 30041905
Losurdo G, Principi M, Iannone A, Amoruso A, Ierardi E, Di Leo A, Barone M
World J Gastroenterol 2018 Apr 14;24(14):1521-1530. doi: 10.3748/wjg.v24.i14.1521. PMID: 29662290Free PMC Article
Sharma A, Rao S
Handb Exp Pharmacol 2017;239:59-74. doi: 10.1007/164_2016_111. PMID: 28185025
Didari T, Mozaffari S, Nikfar S, Abdollahi M
World J Gastroenterol 2015 Mar 14;21(10):3072-84. doi: 10.3748/wjg.v21.i10.3072. PMID: 25780308Free PMC Article
Qin HY, Cheng CW, Tang XD, Bian ZX
World J Gastroenterol 2014 Oct 21;20(39):14126-31. doi: 10.3748/wjg.v20.i39.14126. PMID: 25339801Free PMC Article

Diagnosis

Margolis KG, Cryan JF, Mayer EA
Gastroenterology 2021 Apr;160(5):1486-1501. Epub 2021 Jan 22 doi: 10.1053/j.gastro.2020.10.066. PMID: 33493503Free PMC Article
Billiauws L, Maggiori L, Joly F, Panis Y
J Visc Surg 2018 Sep;155(4):283-291. Epub 2018 Jul 21 doi: 10.1016/j.jviscsurg.2017.12.012. PMID: 30041905
Losurdo G, Principi M, Iannone A, Amoruso A, Ierardi E, Di Leo A, Barone M
World J Gastroenterol 2018 Apr 14;24(14):1521-1530. doi: 10.3748/wjg.v24.i14.1521. PMID: 29662290Free PMC Article
Sharma A, Rao S
Handb Exp Pharmacol 2017;239:59-74. doi: 10.1007/164_2016_111. PMID: 28185025
Grayson M
Nature 2016 May 19;533(7603):S101. doi: 10.1038/533S101a. PMID: 27191484

Therapy

Massironi S, Cavalcoli F, Rausa E, Invernizzi P, Braga M, Vecchi M
Dig Liver Dis 2020 Mar;52(3):253-261. Epub 2019 Dec 28 doi: 10.1016/j.dld.2019.11.013. PMID: 31892505
Rao SSC, Bhagatwala J
Clin Transl Gastroenterol 2019 Oct;10(10):e00078. doi: 10.14309/ctg.0000000000000078. PMID: 31584459Free PMC Article
Staudacher HM, Whelan K
Gut 2017 Aug;66(8):1517-1527. Epub 2017 Jun 7 doi: 10.1136/gutjnl-2017-313750. PMID: 28592442
Kim MH, Kim H
Int J Mol Sci 2017 May 12;18(5) doi: 10.3390/ijms18051051. PMID: 28498331Free PMC Article
Sharma A, Rao S
Handb Exp Pharmacol 2017;239:59-74. doi: 10.1007/164_2016_111. PMID: 28185025

Prognosis

Staller K
J Clin Gastroenterol 2018 Jul;52(6):490-501. doi: 10.1097/MCG.0000000000001049. PMID: 29794543
Celik N, Mazariegos GV, Soltys K, Rudolph JA, Shi Y, Bond GJ, Sindhi R, Ganoza A
Gastroenterol Clin North Am 2018 Jun;47(2):355-368. Epub 2018 Apr 4 doi: 10.1016/j.gtc.2018.01.007. PMID: 29735029
Limketkai BN, Parian AM, Shah ND, Colombel JF
Inflamm Bowel Dis 2016 May;22(5):1209-18. doi: 10.1097/MIB.0000000000000698. PMID: 26818425
Donohoe CL, Reynolds JV
Surgeon 2010 Oct;8(5):270-9. doi: 10.1016/j.surge.2010.06.004. PMID: 20709285
Ackroyd FW, Hedberg SE
Annu Rev Med 1985;36:619-25. doi: 10.1146/annurev.me.36.020185.003155. PMID: 3994327

Clinical prediction guides

Gearry R, Fukudo S, Barbara G, Kuhn-Sherlock B, Ansell J, Blatchford P, Eady S, Wallace A, Butts C, Cremon C, Barbaro MR, Pagano I, Okawa Y, Muratubaki T, Okamoto T, Fuda M, Endo Y, Kano M, Kanazawa M, Nakaya N, Nakaya K, Drummond L
Am J Gastroenterol 2023 Jun 1;118(6):1058-1068. Epub 2022 Dec 20 doi: 10.14309/ajg.0000000000002124. PMID: 36537785Free PMC Article
Baumgartner M, Lang M, Holley H, Crepaz D, Hausmann B, Pjevac P, Moser D, Haller F, Hof F, Beer A, Orgler E, Frick A, Khare V, Evstatiev R, Strohmaier S, Primas C, Dolak W, Köcher T, Klavins K, Rath T, Neurath MF, Berry D, Makristathis A, Muttenthaler M, Gasche C
Gastroenterology 2021 Oct;161(4):1245-1256.e20. Epub 2021 Jun 17 doi: 10.1053/j.gastro.2021.06.024. PMID: 34146566Free PMC Article
Nguyen TH, Chokshi RV
Curr Gastroenterol Rep 2020 Aug 4;22(10):48. doi: 10.1007/s11894-020-00785-z. PMID: 32749603Free PMC Article
Gatta L, Scarpignato C
Aliment Pharmacol Ther 2017 Mar;45(5):604-616. Epub 2017 Jan 12 doi: 10.1111/apt.13928. PMID: 28078798Free PMC Article
Didari T, Mozaffari S, Nikfar S, Abdollahi M
World J Gastroenterol 2015 Mar 14;21(10):3072-84. doi: 10.3748/wjg.v21.i10.3072. PMID: 25780308Free PMC Article

Recent systematic reviews

Zhang T, Zhang C, Zhang J, Sun F, Duan L
Front Cell Infect Microbiol 2022;12:859967. Epub 2022 Apr 1 doi: 10.3389/fcimb.2022.859967. PMID: 35433498Free PMC Article
Black CJ, Staudacher HM, Ford AC
Gut 2022 Jun;71(6):1117-1126. Epub 2021 Aug 10 doi: 10.1136/gutjnl-2021-325214. PMID: 34376515
van Lanen AS, de Bree A, Greyling A
Eur J Nutr 2021 Sep;60(6):3505-3522. Epub 2021 Feb 14 doi: 10.1007/s00394-020-02473-0. PMID: 33585949Free PMC Article
Oka P, Parr H, Barberio B, Black CJ, Savarino EV, Ford AC
Lancet Gastroenterol Hepatol 2020 Oct;5(10):908-917. Epub 2020 Jul 20 doi: 10.1016/S2468-1253(20)30217-X. PMID: 32702295
Dale HF, Rasmussen SH, Asiller ÖÖ, Lied GA
Nutrients 2019 Sep 2;11(9) doi: 10.3390/nu11092048. PMID: 31480656Free PMC Article

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