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Olfactory lobe agenesis

MedGen UID:
344477
Concept ID:
C1855331
Finding
Synonym: Olfactory lobe absence
 
HPO: HP:0001341

Conditions with this feature

Hypogonadotropic hypogonadism 1 with or without anosmia
MedGen UID:
295872
Concept ID:
C1563719
Disease or Syndrome
Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.
Kallmann syndrome with spastic paraplegia
MedGen UID:
333437
Concept ID:
C1839911
Disease or Syndrome
Multiple congenital anomalies-hypotonia-seizures syndrome 2
MedGen UID:
477139
Concept ID:
C3275508
Disease or Syndrome
Multiple congenital anomalies-hypotonia-seizures syndrome-2 (MCAHS2) is an X-linked recessive neurodevelopmental disorder characterized by dysmorphic features, neonatal hypotonia, early-onset myoclonic seizures, and variable congenital anomalies involving the central nervous, cardiac, and urinary systems. Some affected individuals die in infancy (summary by Johnston et al., 2012). The phenotype shows clinical variability with regard to severity and extraneurologic features. However, most patients present in infancy with early-onset epileptic encephalopathy associated with developmental arrest and subsequent severe neurologic disability; these features are consistent with a form of developmental and epileptic encephalopathy (DEE) (summary by Belet et al., 2014, Kato et al., 2014). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis. For a discussion of genetic heterogeneity of MCAHS, see MCAHS1 (614080). For a discussion of nomenclature and genetic heterogeneity of DEE, see 308350. For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).
Meckel syndrome, type 1
MedGen UID:
811346
Concept ID:
C3714506
Disease or Syndrome
Meckel syndrome, also known as Meckel-Gruber syndrome, is a severe pleiotropic autosomal recessive developmental disorder caused by dysfunction of primary cilia during early embryogenesis. There is extensive clinical variability and controversy as to the minimum diagnostic criteria. Early reports, including that of Opitz and Howe (1969) and Wright et al. (1994), stated that the classic triad of Meckel syndrome comprises (1) cystic renal disease; (2) a central nervous system malformation, most commonly occipital encephalocele; and (3) polydactyly, most often postaxial. However, based on a study of 67 patients, Salonen (1984) concluded that the minimum diagnostic criteria are (1) cystic renal disease; (2) CNS malformation, and (3) hepatic abnormalities, including portal fibrosis or ductal proliferation. In a review of Meckel syndrome, Logan et al. (2011) stated that the classic triad first described by Meckel (1822) included occipital encephalocele, cystic kidneys, and fibrotic changes to the liver. Genetic Heterogeneity of Meckel Syndrome See also MKS2 (603194), caused by mutation in the TMEM216 gene (613277) on chromosome 11q12; MKS3 (607361), caused by mutation in the TMEM67 gene (609884) on chromosome 8q; MKS4 (611134), caused by mutation in the CEP290 gene (610142) on chromosome 12q; MKS5 (611561), caused by mutation in the RPGRIP1L gene (610937) on chromosome 16q12; MKS6 (612284), caused by mutation in the CC2D2A gene (612013) on chromosome 4p15; MKS7 (267010), caused by mutation in the NPHP3 (608002) gene on chromosome 3q22; MKS8 (613885), caused by mutation in the TCTN2 gene (613846) on chromosome 12q24; MKS9 (614209), caused by mutation in the B9D1 gene (614144) on chromosome 17p11; MKS10 (614175), caused by mutation in the B9D2 gene (611951) on chromosome 19q13; MKS11 (615397), caused by mutation in the TMEM231 gene (614949) on chromosome 16q23; MKS12 (616258), caused by mutation in the KIF14 gene (611279) on chromosome 1q32; MKS13 (617562), caused by mutation in the TMEM107 gene (616183) on chromosome 17p13; and MKS14 (619879), caused by mutation in the TXNDC15 gene (617778) on chromosome 5q31.

Professional guidelines

PubMed

Bianchi S, Battistella G, Huddleston H, Scharf R, Fleysher L, Rumbach AF, Frucht SJ, Blitzer A, Ozelius LJ, Simonyan K
Mov Disord 2017 Apr;32(4):560-568. Epub 2017 Feb 10 doi: 10.1002/mds.26920. PMID: 28186656Free PMC Article
Vinurel N, Van Nieuwenhuyse A, Cagneaux M, Garel C, Quarello E, Brasseur M, Picone O, Ferry M, Gaucherand P, des Portes V, Guibaud L
Ultrasound Obstet Gynecol 2014 Mar;43(3):346-52. Epub 2014 Jan 2 doi: 10.1002/uog.12498. PMID: 23640781
Furtado CP, Maller JJ, Fitzgerald PB
Psychiatry Res 2008 Jul 15;163(2):133-42. Epub 2008 May 29 doi: 10.1016/j.pscychresns.2007.11.005. PMID: 18511243

Recent clinical studies

Etiology

Chen PP, Wei XY, Tao L, Xin X, Xiao ST, He N
Sci Rep 2023 Jun 26;13(1):10331. doi: 10.1038/s41598-023-37493-3. PMID: 37365237Free PMC Article
Muccioli L, Sighinolfi G, Mitolo M, Ferri L, Jane Rochat M, Pensato U, Taruffi L, Testa C, Masullo M, Cortelli P, Lodi R, Liguori R, Tonon C, Bisulli F
Neuroimage Clin 2023;38:103410. Epub 2023 Apr 17 doi: 10.1016/j.nicl.2023.103410. PMID: 37104928Free PMC Article
Douaud G, Lee S, Alfaro-Almagro F, Arthofer C, Wang C, McCarthy P, Lange F, Andersson JLR, Griffanti L, Duff E, Jbabdi S, Taschler B, Keating P, Winkler AM, Collins R, Matthews PM, Allen N, Miller KL, Nichols TE, Smith SM
Nature 2022 Apr;604(7907):697-707. Epub 2022 Mar 7 doi: 10.1038/s41586-022-04569-5. PMID: 35255491Free PMC Article
Manara R, Brotto D, Bugin S, Pelizza MF, Sartori S, Nosadini M, Azzolini S, Iaconetta G, Parazzini C, Murgia A, Peron A, Canevini P, Labriola F, Vignoli A, Toldo I
Neuroradiology 2018 Aug;60(8):813-820. Epub 2018 Jun 17 doi: 10.1007/s00234-018-2045-x. PMID: 29909560
Harriott AM, Schwedt TJ
Curr Pain Headache Rep 2014 Nov;18(11):458. doi: 10.1007/s11916-014-0458-8. PMID: 25245197

Diagnosis

Douaud G, Lee S, Alfaro-Almagro F, Arthofer C, Wang C, McCarthy P, Lange F, Andersson JLR, Griffanti L, Duff E, Jbabdi S, Taschler B, Keating P, Winkler AM, Collins R, Matthews PM, Allen N, Miller KL, Nichols TE, Smith SM
Nature 2022 Apr;604(7907):697-707. Epub 2022 Mar 7 doi: 10.1038/s41586-022-04569-5. PMID: 35255491Free PMC Article
Zou J, Weng RH, Chen ZY, Wei XB, Wang R, Chen D, Xia Y, Wang Q
CNS Neurosci Ther 2016 Mar;22(3):167-77. Epub 2016 Jan 18 doi: 10.1111/cns.12493. PMID: 26776081Free PMC Article
Desai M, Agadi JB, Karthik N, Praveenkumar S, Netto AB
J Clin Neurosci 2015 Oct;22(10):1614-8. Epub 2015 Jul 3 doi: 10.1016/j.jocn.2015.03.035. PMID: 26149406
Attems J, Walker L, Jellinger KA
Gerontology 2015;61(6):485-90. Epub 2015 May 9 doi: 10.1159/000381619. PMID: 25968962
Leboucq N, Menjot de Champfleur N, Menjot de Champfleur S, Bonafé A
Diagn Interv Imaging 2013 Oct;94(10):985-91. Epub 2013 Aug 7 doi: 10.1016/j.diii.2013.06.006. PMID: 23932763

Therapy

Webster KE, O'Byrne L, MacKeith S, Philpott C, Hopkins C, Burton MJ
Cochrane Database Syst Rev 2022 Sep 5;9(9):CD013877. doi: 10.1002/14651858.CD013877.pub3. PMID: 36063364Free PMC Article
Shannon P
Clin Neuropathol 2020 Nov/Dec;39(6):288-299. doi: 10.5414/NP301266. PMID: 32589127
Zeydan B, Tosakulwong N, Schwarz CG, Senjem ML, Gunter JL, Reid RI, Gazzuola Rocca L, Lesnick TG, Smith CY, Bailey KR, Lowe VJ, Roberts RO, Jack CR Jr, Petersen RC, Miller VM, Mielke MM, Rocca WA, Kantarci K
JAMA Neurol 2019 Jan 1;76(1):95-100. doi: 10.1001/jamaneurol.2018.3057. PMID: 30326011Free PMC Article
Pearl PL, Poduri A, Prabhu SP, Harini C, Goldstein R, Atkinson RM, Armstrong D, Kinney H
Epilepsia 2018 Apr;59(4):e40-e44. Epub 2018 Feb 23 doi: 10.1111/epi.14032. PMID: 29473152
Harriott AM, Schwedt TJ
Curr Pain Headache Rep 2014 Nov;18(11):458. doi: 10.1007/s11916-014-0458-8. PMID: 25245197

Prognosis

Rissanen E, Carter K, Cicero S, Ficke J, Kijewski M, Park MA, Kijewski J, Stern E, Chitnis T, Silbersweig D, Weiner HL, Kim CK, Lyons J, Klein JP, Bhattacharyya S, Singhal T
Neurol Neuroimmunol Neuroinflamm 2022 Mar;9(2) Epub 2022 Jan 28 doi: 10.1212/NXI.0000000000001136. PMID: 35091466Free PMC Article
Altundag A, Saatci O, Kandemirli SG, Sanli DET, Duz OA, Sanli AN, Yildirim D
Laryngoscope 2021 Jul;131(7):E2243-E2250. Epub 2021 Jan 15 doi: 10.1002/lary.29392. PMID: 33449371
Roalf DR, Quarmley M, Calkins ME, Satterthwaite TD, Ruparel K, Elliott MA, Moore TM, Gur RC, Gur RE, Moberg PJ, Turetsky BI
Schizophr Bull 2017 May 1;43(3):601-610. doi: 10.1093/schbul/sbw112. PMID: 27559077Free PMC Article
Xydakis MS, Mulligan LP, Smith AB, Olsen CH, Lyon DM, Belluscio L
Neurology 2015 Apr 14;84(15):1559-67. Epub 2015 Mar 18 doi: 10.1212/WNL.0000000000001475. PMID: 25788559Free PMC Article
Ciurea AV, Iencean SM, Rizea RE, Brehar FM
Neurosurg Rev 2012 Apr;35(2):195-202; discussion 202. Epub 2011 Sep 30 doi: 10.1007/s10143-011-0353-2. PMID: 21960302

Clinical prediction guides

Chen PP, Wei XY, Tao L, Xin X, Xiao ST, He N
Sci Rep 2023 Jun 26;13(1):10331. doi: 10.1038/s41598-023-37493-3. PMID: 37365237Free PMC Article
Muccioli L, Sighinolfi G, Mitolo M, Ferri L, Jane Rochat M, Pensato U, Taruffi L, Testa C, Masullo M, Cortelli P, Lodi R, Liguori R, Tonon C, Bisulli F
Neuroimage Clin 2023;38:103410. Epub 2023 Apr 17 doi: 10.1016/j.nicl.2023.103410. PMID: 37104928Free PMC Article
Douaud G, Lee S, Alfaro-Almagro F, Arthofer C, Wang C, McCarthy P, Lange F, Andersson JLR, Griffanti L, Duff E, Jbabdi S, Taschler B, Keating P, Winkler AM, Collins R, Matthews PM, Allen N, Miller KL, Nichols TE, Smith SM
Nature 2022 Apr;604(7907):697-707. Epub 2022 Mar 7 doi: 10.1038/s41586-022-04569-5. PMID: 35255491Free PMC Article
Manara R, Brotto D, Bugin S, Pelizza MF, Sartori S, Nosadini M, Azzolini S, Iaconetta G, Parazzini C, Murgia A, Peron A, Canevini P, Labriola F, Vignoli A, Toldo I
Neuroradiology 2018 Aug;60(8):813-820. Epub 2018 Jun 17 doi: 10.1007/s00234-018-2045-x. PMID: 29909560
Desai M, Agadi JB, Karthik N, Praveenkumar S, Netto AB
J Clin Neurosci 2015 Oct;22(10):1614-8. Epub 2015 Jul 3 doi: 10.1016/j.jocn.2015.03.035. PMID: 26149406

Recent systematic reviews

Webster KE, O'Byrne L, MacKeith S, Philpott C, Hopkins C, Burton MJ
Cochrane Database Syst Rev 2022 Sep 5;9(9):CD013877. doi: 10.1002/14651858.CD013877.pub3. PMID: 36063364Free PMC Article
Webster KE, O'Byrne L, MacKeith S, Philpott C, Hopkins C, Burton MJ
Cochrane Database Syst Rev 2021 Jul 22;7(7):CD013877. doi: 10.1002/14651858.CD013877.pub2. PMID: 34291812Free PMC Article
Zhou C, Li J, Dong M, Ping L, Lin H, Wang Y, Wang S, Gao S, Yu G, Cheng Y, Xu X
Front Endocrinol (Lausanne) 2021;12:658198. Epub 2021 May 3 doi: 10.3389/fendo.2021.658198. PMID: 34012420Free PMC Article

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