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Schizophrenia 1(SCZD1)

MedGen UID:
65084
Concept ID:
C0220702
Mental or Behavioral Dysfunction
Synonyms: SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 5-RELATED; SCZD1
 
Monarch Initiative: MONDO:0008414
OMIM®: 181510

Definition

A schizophrenia that has material basis in an autosomal dominant mutation of SCZD1 on chromosome 5q23-q35. [from MONDO]

Clinical features

From HPO
Ectopic kidney
MedGen UID:
68661
Concept ID:
C0238207
Congenital Abnormality
A developmental defect in which a kidney is located in an abnormal anatomic position.
Renal agenesis
MedGen UID:
154237
Concept ID:
C0542519
Congenital Abnormality
Agenesis, that is, failure of the kidney to develop during embryogenesis and development.
Partially duplicated kidney
MedGen UID:
870196
Concept ID:
C4024630
Anatomical Abnormality
The presence of a partially duplicated kidney.
Syndactyly
MedGen UID:
52619
Concept ID:
C0039075
Congenital Abnormality
Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism".
Short proximal phalanx of the 4th toe
MedGen UID:
866654
Concept ID:
C4021001
Anatomical Abnormality
Developmental hypoplasia of the proximal phalanx of fourth toe.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Protruding ear
MedGen UID:
343309
Concept ID:
C1855285
Finding
Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).
Delusions
MedGen UID:
3715
Concept ID:
C0011253
Mental or Behavioral Dysfunction
A false belief that is held despite evidence to the contrary.
Hallucinations
MedGen UID:
6709
Concept ID:
C0018524
Mental or Behavioral Dysfunction
Perceptions in a conscious and awake state in the absence of external stimuli which have qualities of real perception, in that they 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.
Social and occupational deterioration
MedGen UID:
356663
Concept ID:
C1866986
Finding
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Flat occiput
MedGen UID:
332439
Concept ID:
C1837402
Finding
Reduced convexity of the occiput (posterior part of skull).
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).

Professional guidelines

PubMed

Urban-Kowalczyk M, Kotlicka-Antczak M, Strzelecki D, Rudecka E, Śmigielski J
Med Sci Monit 2020 Sep 6;26:e924307. doi: 10.12659/MSM.924307. PMID: 32892205Free PMC Article
Lachman A
J Child Adolesc Ment Health 2014;26(2):109-24. doi: 10.2989/17280583.2014.924416. PMID: 25391710
Demirel A, Demirel OF, Emül M, Duran A, Uğur M
Compr Psychiatry 2014 Aug;55(6):1391-7. Epub 2014 Apr 12 doi: 10.1016/j.comppsych.2014.04.008. PMID: 24850069

Recent clinical studies

Etiology

Năstase MG, Vlaicu I, Trifu SC
Rom J Morphol Embryol 2022 Apr-Jun;63(2):307-322. doi: 10.47162/RJME.63.2.03. PMID: 36374137Free PMC Article
Baranova A, Cao H, Zhang F
Psychiatry Res 2022 Nov;317:114809. Epub 2022 Aug 24 doi: 10.1016/j.psychres.2022.114809. PMID: 36037742Free PMC Article
Bugarski-Kirola D, Arango C, Fava M, Nasrallah H, Liu IY, Abbs B, Stankovic S
Lancet Psychiatry 2022 Jan;9(1):46-58. Epub 2021 Nov 30 doi: 10.1016/S2215-0366(21)00386-2. PMID: 34861170
Li A, Zalesky A, Yue W, Howes O, Yan H, Liu Y, Fan L, Whitaker KJ, Xu K, Rao G, Li J, Liu S, Wang M, Sun Y, Song M, Li P, Chen J, Chen Y, Wang H, Liu W, Li Z, Yang Y, Guo H, Wan P, Lv L, Lu L, Yan J, Song Y, Wang H, Zhang H, Wu H, Ning Y, Du Y, Cheng Y, Xu J, Xu X, Zhang D, Wang X, Jiang T, Liu B
Nat Med 2020 Apr;26(4):558-565. Epub 2020 Mar 23 doi: 10.1038/s41591-020-0793-8. PMID: 32251404
Muir WJ, Pickard BS, Blackwood DH
Curr Psychiatry Rep 2008 Apr;10(2):140-7. doi: 10.1007/s11920-008-0025-2. PMID: 18474207

Diagnosis

Li A, Zalesky A, Yue W, Howes O, Yan H, Liu Y, Fan L, Whitaker KJ, Xu K, Rao G, Li J, Liu S, Wang M, Sun Y, Song M, Li P, Chen J, Chen Y, Wang H, Liu W, Li Z, Yang Y, Guo H, Wan P, Lv L, Lu L, Yan J, Song Y, Wang H, Zhang H, Wu H, Ning Y, Du Y, Cheng Y, Xu J, Xu X, Zhang D, Wang X, Jiang T, Liu B
Nat Med 2020 Apr;26(4):558-565. Epub 2020 Mar 23 doi: 10.1038/s41591-020-0793-8. PMID: 32251404
Mohammadi A, Rashidi E, Amooeian VG
Psychiatry Res 2018 Jul;265:25-38. Epub 2018 Apr 13 doi: 10.1016/j.psychres.2018.04.036. PMID: 29680514
Lachman A
J Child Adolesc Ment Health 2014;26(2):109-24. doi: 10.2989/17280583.2014.924416. PMID: 25391710
Muir WJ, Pickard BS, Blackwood DH
Curr Psychiatry Rep 2008 Apr;10(2):140-7. doi: 10.1007/s11920-008-0025-2. PMID: 18474207
Roberts RC
Schizophr Bull 2007 Jan;33(1):11-5. Epub 2006 Nov 30 doi: 10.1093/schbul/sbl063. PMID: 17138582Free PMC Article

Therapy

Liu J, Cheng Y, Li M, Zhang Z, Li T, Luo XJ
Neuropsychopharmacology 2023 Jan;48(2):270-280. Epub 2022 Sep 16 doi: 10.1038/s41386-022-01456-5. PMID: 36114287Free PMC Article
Baranova A, Cao H, Zhang F
Psychiatry Res 2022 Nov;317:114809. Epub 2022 Aug 24 doi: 10.1016/j.psychres.2022.114809. PMID: 36037742Free PMC Article
Białoń M, Wąsik A
Int J Mol Sci 2022 May 25;23(11) doi: 10.3390/ijms23115968. PMID: 35682647Free PMC Article
Bugarski-Kirola D, Arango C, Fava M, Nasrallah H, Liu IY, Abbs B, Stankovic S
Lancet Psychiatry 2022 Jan;9(1):46-58. Epub 2021 Nov 30 doi: 10.1016/S2215-0366(21)00386-2. PMID: 34861170
Li A, Zalesky A, Yue W, Howes O, Yan H, Liu Y, Fan L, Whitaker KJ, Xu K, Rao G, Li J, Liu S, Wang M, Sun Y, Song M, Li P, Chen J, Chen Y, Wang H, Liu W, Li Z, Yang Y, Guo H, Wan P, Lv L, Lu L, Yan J, Song Y, Wang H, Zhang H, Wu H, Ning Y, Du Y, Cheng Y, Xu J, Xu X, Zhang D, Wang X, Jiang T, Liu B
Nat Med 2020 Apr;26(4):558-565. Epub 2020 Mar 23 doi: 10.1038/s41591-020-0793-8. PMID: 32251404

Prognosis

Urban-Kowalczyk M, Kotlicka-Antczak M, Strzelecki D, Rudecka E, Śmigielski J
Med Sci Monit 2020 Sep 6;26:e924307. doi: 10.12659/MSM.924307. PMID: 32892205Free PMC Article
Li A, Zalesky A, Yue W, Howes O, Yan H, Liu Y, Fan L, Whitaker KJ, Xu K, Rao G, Li J, Liu S, Wang M, Sun Y, Song M, Li P, Chen J, Chen Y, Wang H, Liu W, Li Z, Yang Y, Guo H, Wan P, Lv L, Lu L, Yan J, Song Y, Wang H, Zhang H, Wu H, Ning Y, Du Y, Cheng Y, Xu J, Xu X, Zhang D, Wang X, Jiang T, Liu B
Nat Med 2020 Apr;26(4):558-565. Epub 2020 Mar 23 doi: 10.1038/s41591-020-0793-8. PMID: 32251404
Hosak L, Sery O, Sadykov E, Studnicka J
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 2018 Sep;162(3):159-164. Epub 2018 Jun 29 doi: 10.5507/bp.2018.035. PMID: 29967563
Liang H, Olsen J, Yuan W, Cnattingus S, Vestergaard M, Obel C, Gissler M, Li J
Medicine (Baltimore) 2016 Jan;95(3):e2434. doi: 10.1097/MD.0000000000002434. PMID: 26817875Free PMC Article
Na KS, Jung HY, Kim YK
Prog Neuropsychopharmacol Biol Psychiatry 2014 Jan 3;48:277-86. Epub 2012 Nov 1 doi: 10.1016/j.pnpbp.2012.10.022. PMID: 23123365

Clinical prediction guides

Białoń M, Wąsik A
Int J Mol Sci 2022 May 25;23(11) doi: 10.3390/ijms23115968. PMID: 35682647Free PMC Article
Bugarski-Kirola D, Arango C, Fava M, Nasrallah H, Liu IY, Abbs B, Stankovic S
Lancet Psychiatry 2022 Jan;9(1):46-58. Epub 2021 Nov 30 doi: 10.1016/S2215-0366(21)00386-2. PMID: 34861170
Li A, Zalesky A, Yue W, Howes O, Yan H, Liu Y, Fan L, Whitaker KJ, Xu K, Rao G, Li J, Liu S, Wang M, Sun Y, Song M, Li P, Chen J, Chen Y, Wang H, Liu W, Li Z, Yang Y, Guo H, Wan P, Lv L, Lu L, Yan J, Song Y, Wang H, Zhang H, Wu H, Ning Y, Du Y, Cheng Y, Xu J, Xu X, Zhang D, Wang X, Jiang T, Liu B
Nat Med 2020 Apr;26(4):558-565. Epub 2020 Mar 23 doi: 10.1038/s41591-020-0793-8. PMID: 32251404
Hosak L, Sery O, Sadykov E, Studnicka J
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 2018 Sep;162(3):159-164. Epub 2018 Jun 29 doi: 10.5507/bp.2018.035. PMID: 29967563
Wang HY, Liu Y, Yan JW, Hu XL, Zhu DM, Xu XT, Li XS
Prog Neuropsychopharmacol Biol Psychiatry 2018 Feb 2;81:64-73. Epub 2017 Oct 12 doi: 10.1016/j.pnpbp.2017.10.008. PMID: 29031911

Recent systematic reviews

Orlovska-Waast S, Köhler-Forsberg O, Brix SW, Nordentoft M, Kondziella D, Krogh J, Benros ME
Mol Psychiatry 2019 Jun;24(6):869-887. Epub 2018 Aug 16 doi: 10.1038/s41380-018-0220-4. PMID: 30116031Free PMC Article
Cookey J, Bernier D, Tibbo PG
Schizophr Res 2014 Jul;156(2-3):137-42. Epub 2014 May 16 doi: 10.1016/j.schres.2014.04.026. PMID: 24842540
Duff BJ, Macritchie KAN, Moorhead TWJ, Lawrie SM, Blackwood DHR
Schizophr Res 2013 Jun;147(1):1-13. Epub 2013 Apr 16 doi: 10.1016/j.schres.2013.03.015. PMID: 23602339

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