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Agenesis of pineal gland

MedGen UID:
765992
•Concept ID:
C3553078
•
Anatomical Abnormality; Finding
HPO: HP:0012687

Definition

Failure to develop of the pineal gland, defined clinically as the absence of the pineal gland with no indication of the pineal gland even having been present. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAgenesis of pineal gland

Conditions with this feature

Microphthalmia, syndromic 11
MedGen UID:
765991
•Concept ID:
C3553077
•
Disease or Syndrome
Any syndromic microphthalmia in which the cause of the disease is a mutation in the VAX1 gene.
See: Condition Record
Microphthalmia, syndromic 11

Professional guidelines

PubMed

Role of Melatonin in the Management of Sleep and Circadian Disorders in the Context of Psychiatric Illness.
Moon E, Kim K, Partonen T, Linnaranta O
Curr Psychiatry Rep 2022 Nov;24(11):623-634. Epub 2022 Oct 13 doi: 10.1007/s11920-022-01369-6. PMID: 36227449Free PMC Article
Masses and malformations of the third ventricle: normal anatomic relationships and differential diagnoses.
Glastonbury CM, Osborn AG, Salzman KL
Radiographics 2011 Nov-Dec;31(7):1889-905. doi: 10.1148/rg.317115083. PMID: 22084178
Role of melatonin in the pathophysiology of migraine: implications for treatment.
Vogler B, Rapoport AM, Tepper SJ, Sheftell F, Bigal ME
CNS Drugs 2006;20(5):343-50. doi: 10.2165/00023210-200620050-00001. PMID: 16696576

Recent clinical studies

Etiology

Potential contribution of pineal atrophy and pineal cysts toward vulnerability and clinical characteristics of psychosis.
Takahashi T, Sasabayashi D, Takayanagi Y, Higuchi Y, Mizukami Y, Akasaki Y, Nishiyama S, Furuichi A, Pham TV, Kobayashi H, Noguchi K, Suzuki M
Neuroimage Clin 2021;32:102805. Epub 2021 Aug 25 doi: 10.1016/j.nicl.2021.102805. PMID: 34461434Free PMC Article
Pineal cysts and other pineal region malignancies: determining factors predictive of hydrocephalus and malignancy.
Starke RM, Cappuzzo JM, Erickson NJ, Sherman JH
J Neurosurg 2017 Aug;127(2):249-254. Epub 2016 Oct 21 doi: 10.3171/2016.8.JNS16220. PMID: 27767399
Melatonin and Melatonin Agonists as Adjunctive Treatments in Bipolar Disorders.
Geoffroy PA, Etain B, Franchi JA, Bellivier F, Ritter P
Curr Pharm Des 2015;21(23):3352-8. doi: 10.2174/1381612821666150619093448. PMID: 26088111
Pathogenesis of idiopathic scoliosis: SEPs in chicken with experimentally induced scoliosis and in patients with idiopathic scoliosis.
Machida M, Dubousset J, Imamura Y, Iwaya T, Yamada T, Kimura J, Toriyama S
J Pediatr Orthop 1994 May-Jun;14(3):329-35. doi: 10.1097/01241398-199405000-00010. PMID: 8006163
Physiological and radiological implications of a low incidence of pineal calcification in Nigeria.
Daramola GF, Olowu AO
Neuroendocrinology 1972;9(1):41-57. doi: 10.1159/000122036. PMID: 5008124

Diagnosis

Role of Melatonin in the Management of Sleep and Circadian Disorders in the Context of Psychiatric Illness.
Moon E, Kim K, Partonen T, Linnaranta O
Curr Psychiatry Rep 2022 Nov;24(11):623-634. Epub 2022 Oct 13 doi: 10.1007/s11920-022-01369-6. PMID: 36227449Free PMC Article
Incidental pineal gland cyst in girls with early onset of puberty.
Filippo G, Gaudino R, Calcaterra V, Villani A, Bozzola E, Bozzola M
Ital J Pediatr 2022 Mar 21;48(1):44. doi: 10.1186/s13052-022-01235-4. PMID: 35313951Free PMC Article
Intracranial calcifications in childhood: Part 1.
Gonçalves FG, Caschera L, Teixeira SR, Viaene AN, Pinelli L, Mankad K, Alves CAPF, Ortiz-Gonzalez XR, Andronikou S, Vossough A
Pediatr Radiol 2020 Sep;50(10):1424-1447. Epub 2020 Jul 30 doi: 10.1007/s00247-020-04721-1. PMID: 32734340
Familial pineocytoma.
Gempt J, Ringel F, Oexle K, Delbridge C, Förschler A, Schlegel J, Meyer B, Schmidt-Graf F
Acta Neurochir (Wien) 2012 Aug;154(8):1413-6. Epub 2012 Jun 15 doi: 10.1007/s00701-012-1402-5. PMID: 22699425
Wilson disease.
Kitzberger R, Madl C, Ferenci P
Metab Brain Dis 2005 Dec;20(4):295-302. doi: 10.1007/s11011-005-7910-8. PMID: 16382340

Therapy

Role of melatonin in mitigation of insulin resistance and ensuing diabetic cardiomyopathy.
Nath A, Ghosh S, Bandyopadhyay D
Life Sci 2024 Oct 15;355:122993. Epub 2024 Aug 16 doi: 10.1016/j.lfs.2024.122993. PMID: 39154810
Role of Melatonin in the Management of Sleep and Circadian Disorders in the Context of Psychiatric Illness.
Moon E, Kim K, Partonen T, Linnaranta O
Curr Psychiatry Rep 2022 Nov;24(11):623-634. Epub 2022 Oct 13 doi: 10.1007/s11920-022-01369-6. PMID: 36227449Free PMC Article
Melatonin and Melatonin Agonists as Adjunctive Treatments in Bipolar Disorders.
Geoffroy PA, Etain B, Franchi JA, Bellivier F, Ritter P
Curr Pharm Des 2015;21(23):3352-8. doi: 10.2174/1381612821666150619093448. PMID: 26088111
Protective role of melatonin in mitochondrial dysfunction and related disorders.
Paradies G, Paradies V, Ruggiero FM, Petrosillo G
Arch Toxicol 2015 Jun;89(6):923-39. Epub 2015 Feb 18 doi: 10.1007/s00204-015-1475-z. PMID: 25690732
Melatonin in autism spectrum disorders.
Rossignol DA, Frye RE
Curr Clin Pharmacol 2014;9(4):326-34. doi: 10.2174/15748847113086660072. PMID: 24050742

Prognosis

Potential therapeutic role of melatonin in hepatobiliary diseases: current evidence and clinical observations.
Gonciarz M, Lombard I, Konecki L, Gietka P, Pajdo R, Brzozowski T
J Physiol Pharmacol 2023 Apr;74(2) Epub 2023 Jul 10 doi: 10.26402/jpp.2023.2.01. PMID: 37453089
Pineal cysts and other pineal region malignancies: determining factors predictive of hydrocephalus and malignancy.
Starke RM, Cappuzzo JM, Erickson NJ, Sherman JH
J Neurosurg 2017 Aug;127(2):249-254. Epub 2016 Oct 21 doi: 10.3171/2016.8.JNS16220. PMID: 27767399
Bipolar Disorder: The Role of the Kynurenine and Melatonergic Pathways.
Anderson G, Jacob A, Bellivier F, Geoffroy PA
Curr Pharm Des 2016;22(8):987-1012. doi: 10.2174/1381612822666151214105314. PMID: 26654772
Integrated Genomic Characterization of a Pineal Parenchymal Tumor of Intermediate Differentiation.
Kang YJ, Bi WL, Dubuc AM, Martineau L, Ligon AH, Berkowitz AL, Aizer AA, Lee EQ, Ligon KL, Ramkissoon SH, Dunn IF
World Neurosurg 2016 Jan;85:96-105. Epub 2015 Jul 28 doi: 10.1016/j.wneu.2015.07.032. PMID: 26226092
Pineal tumours: Experience of the French National Register and the Lyon School, results and considerations.
Mottolese C, Beuriat PA, Szathmari A
Neurochirurgie 2015 Apr-Jun;61(2-3):223-35. Epub 2014 Jun 2 doi: 10.1016/j.neuchi.2014.02.006. PMID: 24933478

Clinical prediction guides

Potential therapeutic role of melatonin in hepatobiliary diseases: current evidence and clinical observations.
Gonciarz M, Lombard I, Konecki L, Gietka P, Pajdo R, Brzozowski T
J Physiol Pharmacol 2023 Apr;74(2) Epub 2023 Jul 10 doi: 10.26402/jpp.2023.2.01. PMID: 37453089
Incidental pineal gland cyst in girls with early onset of puberty.
Filippo G, Gaudino R, Calcaterra V, Villani A, Bozzola E, Bozzola M
Ital J Pediatr 2022 Mar 21;48(1):44. doi: 10.1186/s13052-022-01235-4. PMID: 35313951Free PMC Article
Potential contribution of pineal atrophy and pineal cysts toward vulnerability and clinical characteristics of psychosis.
Takahashi T, Sasabayashi D, Takayanagi Y, Higuchi Y, Mizukami Y, Akasaki Y, Nishiyama S, Furuichi A, Pham TV, Kobayashi H, Noguchi K, Suzuki M
Neuroimage Clin 2021;32:102805. Epub 2021 Aug 25 doi: 10.1016/j.nicl.2021.102805. PMID: 34461434Free PMC Article
Melatonin in autism spectrum disorders.
Rossignol DA, Frye RE
Curr Clin Pharmacol 2014;9(4):326-34. doi: 10.2174/15748847113086660072. PMID: 24050742
Human pineal physiology and functional significance of melatonin.
Macchi MM, Bruce JN
Front Neuroendocrinol 2004 Sep-Dec;25(3-4):177-95. doi: 10.1016/j.yfrne.2004.08.001. PMID: 15589268

Recent systematic reviews

Papillary tumor of the pineal region in pediatric populations: An additional case and systematic review of a rare tumor entity.
Mathkour M, Hanna J, Ibrahim N, Scullen T, Kilgore MD, Werner C, Cormier I, Spencer P, Keen JR, Bui CJ
Clin Neurol Neurosurg 2021 Feb;201:106404. Epub 2020 Dec 8 doi: 10.1016/j.clineuro.2020.106404. PMID: 33360024
Pineal gland and schizophrenia: A systematic review and meta-analysis.
Bastos MAV Jr, Oliveira Bastos PRH, Portella RB, Soares LFG, Conde RB, Rodrigues PMF Jr, Lucchetti G
Psychoneuroendocrinology 2019 Jun;104:100-114. Epub 2019 Feb 25 doi: 10.1016/j.psyneuen.2019.02.024. PMID: 30831343

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