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Schizophrenia 10(SCZD10)

MedGen UID:
107776
Concept ID:
C0543918
Mental or Behavioral Dysfunction
Synonyms: CATATONIA, PERIODIC; SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 15q15-RELATED; SCZD10
 
Monarch Initiative: MONDO:0011552
OMIM®: 605419

Definition

A schizophrenia that has material basis in an autosomal dominant mutation of SCZD10 on chromosome 15q15. [from MONDO]

Clinical features

From HPO
Hallucinations
MedGen UID:
6709
Concept ID:
C0018524
Mental or Behavioral Dysfunction
Perceptions in a conscious and awake state that, in the absence of external stimuli, have qualities of real perception. These perceptions are vivid, substantial, and located in external objective space.
Schizophrenia
MedGen UID:
48574
Concept ID:
C0036341
Mental or Behavioral Dysfunction
Schizophrenia is highly heritable, as shown by family, twin, and adoption studies. For example, for identical twins, if one twin develops schizophrenia, the other twin has about a 50% chance of also developing the disease. The risk of the general population developing the schizophrenia is about 0.3-0.7% worldwide. The search for “schizophrenia genes” has been elusive. Initial linkage studies looked at parts of the genome associated with schizophrenia, and many candidate genes were identified, including APOE, COMT, DAO, DRD1, DRD2, DRD4, DTNBP1, GABRB2, GRIN2B, HP, IL1B, MTHFR, PLXNA2, SLC6A4, TP53, and TPH1. However, some of these have later been questioned. Microdeletions and microduplications have been found to be three times more common in individuals with schizophrenia, compared to controls. Because these deletions and duplications are in genes that are overexpressed in pathways related to brain development, it is possible that the inheritance of multiple rare variants may contribute to the development of schizophrenia. Several genetic disorders feature schizophrenia as a clinical feature. The 22q11.2 Deletion Syndrome comprises many different syndromes, of which one of the most serious is DiGeorge syndrome. Children born with DiGeorge syndrome typically have heart defects, cleft palate, learning difficulties, and immune deficiency. Schizophrenia is a late manifestation, affecting around 30% of individuals. Microdeletions and duplications in chromosome 1, 2, 3, 7, 15 and 16 have also been associated with schizophrenia. In 2014, a genome-wide association study looked at the genomes of over 35,000 patients and 110,00 controls. The study identified 108 SNPs that were associated with schizophrenia, 83 of which had not been previously reported. As expected, many of these loci occurred in genes that are expressed in the brain. For example, the SNPs included a gene that encodes the dopamine D2 receptor, DRD2 (the target of antipsychotic drugs), and many genes involved in glutamine neurotransmitter pathways and synaptic plasticity (e.g., GRM3, GRIN2A, SRR, GRIA1). More surprisingly, however, associations were also enriched among genes expressed in tissues with important immune functions. In 2016, a study based on nearly 65,000 people investigated the association between schizophrenia and variation in the Major Histocompatibility Complex (MHC) locus—a region on chromosome 6 that is important for immune function. The study focused on the C4 gene (complement component 4) that exists as two distinct genes: C4A and C4B, which encode particularly structurally diverse alleles. The study found that the alleles which promoted greater expression of C4A in the brain were associated with a greater risk of schizophrenia. By using mice models, the study showed that C4 is involved in the elimination of synapses during brain maturation. In humans, “synaptic pruning” is most active during late adolescence, which coincides with the typical onset of symptoms of schizophrenia. It is therefore possible that the inheritance of specific C4A alleles could lead to “run away” synaptic pruning, increasing the risk of schizophrenia. Further research may even determine C4 as a potential therapeutic target.
Psychotic episodes
MedGen UID:
90930
Concept ID:
C0338614
Mental or Behavioral Dysfunction
Periods of time during which an individual experiences significant disturbances in their thoughts, perceptions, emotions, and behavior, resulting in a loss of touch with reality. These episodes are hallmark features of psychotic disorders such as schizophrenia, schizoaffective disorder, and certain forms of bipolar disorder.
Mask-like facies
MedGen UID:
140860
Concept ID:
C0424448
Finding
A lack of facial expression often with staring eyes and a slightly open mouth.
Disturbance of facial expression
MedGen UID:
870758
Concept ID:
C4025215
Finding
An abnormality of the gestures or movements executed with the facial muscles with which emotions such as fear, joy, sadness, surprise, and disgust can be expressed.

Professional guidelines

PubMed

Rohde C, Højlund M, Gasse C, Hauser AS, Petersen LV, Christensen RH, Benros ME, Hallas J, Mors O, Köhler-Forsberg O
Schizophr Res 2022 Aug;246:268-276. Epub 2022 Jul 17 doi: 10.1016/j.schres.2022.06.034. PMID: 35858504
Khandker R, Qureshi ZP, Shepherd J, Samant S, Chekani F, Bailey HML
Prim Care Companion CNS Disord 2020 Dec 23;22(6) doi: 10.4088/PCC.20m02681. PMID: 33369293
Grinshpoon A, Zusman SP, Weizman A, Ponizovsky AM
Isr J Psychiatry Relat Sci 2015;52(2):114-8. PMID: 26431415

Recent clinical studies

Etiology

Driver DI, Thomas S, Gogtay N, Rapoport JL
Child Adolesc Psychiatr Clin N Am 2020 Jan;29(1):71-90. doi: 10.1016/j.chc.2019.08.017. PMID: 31708054
McCutcheon RA, Reis Marques T, Howes OD
JAMA Psychiatry 2020 Feb 1;77(2):201-210. doi: 10.1001/jamapsychiatry.2019.3360. PMID: 31664453
Stilo SA, Murray RM
Curr Psychiatry Rep 2019 Sep 14;21(10):100. doi: 10.1007/s11920-019-1091-3. PMID: 31522306Free PMC Article
Schultz SH, North SW, Shields CG
Am Fam Physician 2007 Jun 15;75(12):1821-9. PMID: 17619525
Häfner H, an der Heiden W
Can J Psychiatry 1997 Mar;42(2):139-51. doi: 10.1177/070674379704200204. PMID: 9067063

Diagnosis

Driver DI, Thomas S, Gogtay N, Rapoport JL
Child Adolesc Psychiatr Clin N Am 2020 Jan;29(1):71-90. doi: 10.1016/j.chc.2019.08.017. PMID: 31708054
McCutcheon RA, Reis Marques T, Howes OD
JAMA Psychiatry 2020 Feb 1;77(2):201-210. doi: 10.1001/jamapsychiatry.2019.3360. PMID: 31664453
Schultz SH, North SW, Shields CG
Am Fam Physician 2007 Jun 15;75(12):1821-9. PMID: 17619525
Häfner H, an der Heiden W
Can J Psychiatry 1997 Mar;42(2):139-51. doi: 10.1177/070674379704200204. PMID: 9067063
Carpenter WT Jr, Buchanan RW
N Engl J Med 1994 Mar 10;330(10):681-90. doi: 10.1056/NEJM199403103301006. PMID: 8107719

Therapy

Bighelli I, Rodolico A, García-Mieres H, Pitschel-Walz G, Hansen WP, Schneider-Thoma J, Siafis S, Wu H, Wang D, Salanti G, Furukawa TA, Barbui C, Leucht S
Lancet Psychiatry 2021 Nov;8(11):969-980. Epub 2021 Oct 12 doi: 10.1016/S2215-0366(21)00243-1. PMID: 34653393
Huhn M, Nikolakopoulou A, Schneider-Thoma J, Krause M, Samara M, Peter N, Arndt T, Bäckers L, Rothe P, Cipriani A, Davis J, Salanti G, Leucht S
Lancet 2019 Sep 14;394(10202):939-951. Epub 2019 Jul 11 doi: 10.1016/S0140-6736(19)31135-3. PMID: 31303314Free PMC Article
Vaucher J, Keating BJ, Lasserre AM, Gan W, Lyall DM, Ward J, Smith DJ, Pell JP, Sattar N, Paré G, Holmes MV
Mol Psychiatry 2018 May;23(5):1287-1292. Epub 2017 Jan 24 doi: 10.1038/mp.2016.252. PMID: 28115737Free PMC Article
Khandaker GM, Cousins L, Deakin J, Lennox BR, Yolken R, Jones PB
Lancet Psychiatry 2015 Mar;2(3):258-270. Epub 2015 Feb 25 doi: 10.1016/S2215-0366(14)00122-9. PMID: 26359903Free PMC Article
Leucht S, Cipriani A, Spineli L, Mavridis D, Orey D, Richter F, Samara M, Barbui C, Engel RR, Geddes JR, Kissling W, Stapf MP, Lässig B, Salanti G, Davis JM
Lancet 2013 Sep 14;382(9896):951-62. Epub 2013 Jun 27 doi: 10.1016/S0140-6736(13)60733-3. PMID: 23810019

Prognosis

Chu YW, Chen WP, Yang AC, Tsai SJ, Hu LY, Lee SC, Lee YT, Shen CC
BMC Psychiatry 2022 Feb 1;22(1):77. doi: 10.1186/s12888-022-03723-7. PMID: 35105317Free PMC Article
Tanskanen A, Taipale H, Cannon M, Cotter D, Tiihonen J
Acta Psychiatr Scand 2021 Jun;143(6):487-494. Epub 2021 Mar 26 doi: 10.1111/acps.13295. PMID: 33713343
Vohra J
Heart Lung Circ 2020 Oct;29(10):1427-1432. Epub 2020 Aug 3 doi: 10.1016/j.hlc.2020.07.003. PMID: 32800442
Malhotra S, Sahoo S, Balachander S
Curr Psychiatry Rep 2019 Nov 4;21(11):113. doi: 10.1007/s11920-019-1099-8. PMID: 31686264
Häfner H, an der Heiden W
Can J Psychiatry 1997 Mar;42(2):139-51. doi: 10.1177/070674379704200204. PMID: 9067063

Clinical prediction guides

Gupta G
Altern Ther Health Med 2023 Jul;29(5):164-169. PMID: 34453506
Citrome L, Preskorn SH, Lauriello J, Krystal JH, Kakar R, Finman J, De Vivo M, Yocca FD, Risinger R, Rajachandran L
J Clin Psychiatry 2022 Oct 3;83(6) doi: 10.4088/JCP.22m14447. PMID: 36198061
Shnayder NA, Novitsky MA, Neznanov NG, Limankin OV, Asadullin AR, Petrov AV, Dmitrenko DV, Narodova EA, Popenko NV, Nasyrova RF
Genes (Basel) 2022 Mar 2;13(3) doi: 10.3390/genes13030457. PMID: 35328011Free PMC Article
McCutcheon RA, Reis Marques T, Howes OD
JAMA Psychiatry 2020 Feb 1;77(2):201-210. doi: 10.1001/jamapsychiatry.2019.3360. PMID: 31664453
Stilo SA, Murray RM
Curr Psychiatry Rep 2019 Sep 14;21(10):100. doi: 10.1007/s11920-019-1091-3. PMID: 31522306Free PMC Article

Recent systematic reviews

Bighelli I, Rodolico A, García-Mieres H, Pitschel-Walz G, Hansen WP, Schneider-Thoma J, Siafis S, Wu H, Wang D, Salanti G, Furukawa TA, Barbui C, Leucht S
Lancet Psychiatry 2021 Nov;8(11):969-980. Epub 2021 Oct 12 doi: 10.1016/S2215-0366(21)00243-1. PMID: 34653393
Loots E, Goossens E, Vanwesemael T, Morrens M, Van Rompaey B, Dilles T
Int J Environ Res Public Health 2021 Sep 28;18(19) doi: 10.3390/ijerph181910213. PMID: 34639510Free PMC Article
Pillinger T, McCutcheon RA, Vano L, Mizuno Y, Arumuham A, Hindley G, Beck K, Natesan S, Efthimiou O, Cipriani A, Howes OD
Lancet Psychiatry 2020 Jan;7(1):64-77. Epub 2019 Dec 17 doi: 10.1016/S2215-0366(19)30416-X. PMID: 31860457Free PMC Article
Huhn M, Nikolakopoulou A, Schneider-Thoma J, Krause M, Samara M, Peter N, Arndt T, Bäckers L, Rothe P, Cipriani A, Davis J, Salanti G, Leucht S
Lancet 2019 Sep 14;394(10202):939-951. Epub 2019 Jul 11 doi: 10.1016/S0140-6736(19)31135-3. PMID: 31303314Free PMC Article
Lally J, Maloudi S, Krivoy A, Murphy KC
J Nerv Ment Dis 2019 Sep;207(9):721-725. doi: 10.1097/NMD.0000000000000936. PMID: 31082962

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