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Ravine syndrome

MedGen UID:
907744
Concept ID:
C4275006
Disease or Syndrome
Synonyms: Progressive encephalopathy with severe infantile anorexia; progressive encephalopathy with severe infantile anorexia; RAVINE syndrome; ravine syndrome; Reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome
SNOMED CT: Progressive encephalopathy with severe infantile anorexia (715794009); RAVINE syndrome (715794009)
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:0020505
Orphanet: ORPHA99852

Definition

RAVINE syndrome is an extremely rare genetic neurological disorder reported in a small number of patients in a specific community on Reunion Island (France) with manifestation of infantile anorexia, irrepressible and repeated vomiting, acute brainstem dysfunction, severe failure to thrive, and progressive encephalopathy with MRI showing vanishing of posterior fossa along with supra-tentorial periventricular white-matter hyperintensities and basal ganglion anomalies. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRavine syndrome

Professional guidelines

PubMed

Kirk EP, Ong R, Boggs K, Hardy T, Righetti S, Kamien B, Roscioli T, Amor DJ, Bakshi M, Chung CWT, Colley A, Jamieson RV, Liebelt J, Ma A, Pachter N, Rajagopalan S, Ravine A, Wilson M, Caruana J, Casella R, Davis M, Edwards S, Archibald A, McGaughran J, Newson AJ, Laing NG, Delatycki MB
Eur J Hum Genet 2021 Jan;29(1):79-87. Epub 2020 Jul 16 doi: 10.1038/s41431-020-0685-x. PMID: 32678339Free PMC Article
Bebbington A, Anderson A, Ravine D, Fyfe S, Pineda M, de Klerk N, Ben-Zeev B, Yatawara N, Percy A, Kaufmann WE, Leonard H
Neurology 2008 Mar 11;70(11):868-75. doi: 10.1212/01.wnl.0000304752.50773.ec. PMID: 18332345

Recent clinical studies

Etiology

Leonard H, Downs J, Jian L, Bebbington A, Jacoby P, Nagarajan L, Ravine D, Woodhead H
Arch Dis Child 2010 Jun;95(6):444-8. doi: 10.1136/adc.2008.148932. PMID: 20501539
Schoemaker MJ, Swerdlow AJ, Higgins CD, Wright AF, Jacobs PA; United Kingdom Clinical Cytogenetics Group
J Clin Endocrinol Metab 2008 Dec;93(12):4735-42. Epub 2008 Sep 23 doi: 10.1210/jc.2008-1049. PMID: 18812477
Young DJ, Bebbington A, Anderson A, Ravine D, Ellaway C, Kulkarni A, de Klerk N, Kaufmann WE, Leonard H
Eur J Pediatr 2008 Jun;167(6):661-9. Epub 2007 Aug 8 doi: 10.1007/s00431-007-0569-x. PMID: 17684768
Jian L, Nagarajan L, de Klerk N, Ravine D, Christodoulou J, Leonard H
Eur J Paediatr Neurol 2007 Sep;11(5):310-7. Epub 2007 Apr 11 doi: 10.1016/j.ejpn.2007.02.008. PMID: 17433737Free PMC Article
Jian L, Nagarajan L, de Klerk N, Ravine D, Bower C, Anderson A, Williamson S, Christodoulou J, Leonard H
J Pediatr 2006 Oct;149(4):542-7. doi: 10.1016/j.jpeds.2006.06.015. PMID: 17011329

Diagnosis

Theodoulou MH, Ravine M
Clin Podiatr Med Surg 2023 Jul;40(3):413-424. Epub 2023 Feb 16 doi: 10.1016/j.cpm.2022.12.002. PMID: 37236679
Kirk EP, Ong R, Boggs K, Hardy T, Righetti S, Kamien B, Roscioli T, Amor DJ, Bakshi M, Chung CWT, Colley A, Jamieson RV, Liebelt J, Ma A, Pachter N, Rajagopalan S, Ravine A, Wilson M, Caruana J, Casella R, Davis M, Edwards S, Archibald A, McGaughran J, Newson AJ, Laing NG, Delatycki MB
Eur J Hum Genet 2021 Jan;29(1):79-87. Epub 2020 Jul 16 doi: 10.1038/s41431-020-0685-x. PMID: 32678339Free PMC Article
Leonard H, Downs J, Jian L, Bebbington A, Jacoby P, Nagarajan L, Ravine D, Woodhead H
Arch Dis Child 2010 Jun;95(6):444-8. doi: 10.1136/adc.2008.148932. PMID: 20501539
Downs J, Géranton SM, Bebbington A, Jacoby P, Bahi-Buisson N, Ravine D, Leonard H
Am J Med Genet A 2010 May;152A(5):1197-205. doi: 10.1002/ajmg.a.33314. PMID: 20425824Free PMC Article
Young DJ, Bebbington A, Anderson A, Ravine D, Ellaway C, Kulkarni A, de Klerk N, Kaufmann WE, Leonard H
Eur J Pediatr 2008 Jun;167(6):661-9. Epub 2007 Aug 8 doi: 10.1007/s00431-007-0569-x. PMID: 17684768

Therapy

Leonard H, Downs J, Jian L, Bebbington A, Jacoby P, Nagarajan L, Ravine D, Woodhead H
Arch Dis Child 2010 Jun;95(6):444-8. doi: 10.1136/adc.2008.148932. PMID: 20501539
Jian L, Nagarajan L, de Klerk N, Ravine D, Christodoulou J, Leonard H
Eur J Paediatr Neurol 2007 Sep;11(5):310-7. Epub 2007 Apr 11 doi: 10.1016/j.ejpn.2007.02.008. PMID: 17433737Free PMC Article

Prognosis

Schoemaker MJ, Swerdlow AJ, Higgins CD, Wright AF, Jacobs PA; United Kingdom Clinical Cytogenetics Group
J Clin Endocrinol Metab 2008 Dec;93(12):4735-42. Epub 2008 Sep 23 doi: 10.1210/jc.2008-1049. PMID: 18812477
Young DJ, Bebbington A, Anderson A, Ravine D, Ellaway C, Kulkarni A, de Klerk N, Kaufmann WE, Leonard H
Eur J Pediatr 2008 Jun;167(6):661-9. Epub 2007 Aug 8 doi: 10.1007/s00431-007-0569-x. PMID: 17684768
Archer H, Evans J, Leonard H, Colvin L, Ravine D, Christodoulou J, Williamson S, Charman T, Bailey ME, Sampson J, de Klerk N, Clarke A
J Med Genet 2007 Feb;44(2):148-52. Epub 2006 Aug 11 doi: 10.1136/jmg.2006.045260. PMID: 16905679Free PMC Article
Jian L, Nagarajan L, de Klerk N, Ravine D, Bower C, Anderson A, Williamson S, Christodoulou J, Leonard H
J Pediatr 2006 Oct;149(4):542-7. doi: 10.1016/j.jpeds.2006.06.015. PMID: 17011329
Agwu JC, Shaw NJ, Kirk J, Chapman S, Ravine D, Cole TR
Arch Dis Child 1999 Apr;80(4):339-42. doi: 10.1136/adc.80.4.339. PMID: 10086939Free PMC Article

Clinical prediction guides

Archer H, Evans J, Leonard H, Colvin L, Ravine D, Christodoulou J, Williamson S, Charman T, Bailey ME, Sampson J, de Klerk N, Clarke A
J Med Genet 2007 Feb;44(2):148-52. Epub 2006 Aug 11 doi: 10.1136/jmg.2006.045260. PMID: 16905679Free PMC Article
Jian L, Nagarajan L, de Klerk N, Ravine D, Bower C, Anderson A, Williamson S, Christodoulou J, Leonard H
J Pediatr 2006 Oct;149(4):542-7. doi: 10.1016/j.jpeds.2006.06.015. PMID: 17011329
Jian L, Archer HL, Ravine D, Kerr A, de Klerk N, Christodoulou J, Bailey ME, Laurvick C, Leonard H
Eur J Hum Genet 2005 Nov;13(11):1235-8. doi: 10.1038/sj.ejhg.5201479. PMID: 16077729
Hateboer N, Buchalter M, Davies SJ, Lazarou LP, Ravine D
Am J Kidney Dis 2000 Apr;35(4):753-60. doi: 10.1016/s0272-6386(00)70026-6. PMID: 10739800
Tousignant M
Cult Med Psychiatry 1979 Dec;3(4):347-61. doi: 10.1007/BF00051463. PMID: 535409

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