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Schizophrenia(SCZD)

MedGen UID:
48574
Concept ID:
C0036341
Mental or Behavioral Dysfunction
Synonyms: SCHIZOPHRENIA WITH OR WITHOUT AN AFFECTIVE DISORDER; SCZD
SNOMED CT: Schizophrenic disorders (191526005); Schizophrenia (58214004)
 
Genes (locations): APOL2 (22q12.3); APOL4 (22q12.3); CHI3L1 (1q32.1); COMT (22q11.21); DAOA (13q33.2); DISC2 (1q42.2); DRD3 (3q13.31); HTR2A (13q14.2); MTHFR (1p36.22); RTN4R (22q11.21); SYN2 (3p25.2)
Related genes: SHANK3, DISC1, RBM12, NRXN1, SLC1A1, PRODH, NRG1
 
HPO: HP:0100753
Monarch Initiative: MONDO:0005090
OMIM®: 181500
Orphanet: ORPHA3140

Definition

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. [from Medical Genetics Summaries]

Additional descriptions

From OMIM
Schizophrenia is a psychosis, a disorder of thought and sense of self. Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. There is no characteristic pathology, such as neurofibrillary tangles in Alzheimer disease (104300). Schizophrenia is a common disorder with a lifetime prevalence of approximately 1%. It is highly heritable but the genetics are complex. This may not be a single entity. Schizophrenia and bipolar disorder (see 125480) are generally considered to be separate entities, but patients who exhibit multiple symptoms of both disorders are often given the hybrid diagnosis schizoaffective disorder (Blacker and Tsuang, 1992). Genetic Heterogeneity of Schizophrenia with or without an Affective Disorder SCZD4 (600850) is associated with variation in the PRODH gene (606810); SCZD9 (604906) with variation in the DISC1 gene (605210); SCZD15 (613950) with variation in the SHANK3 gene (606230); SCZD16 (613959) with a chromosome duplication involving the VIPR2 gene (601970); SCZD17 (see 614332) with variation in the NRXN1 gene (600565); SCZD18 (615232) with variation in the SLC1A1 gene (133550); and SCZD19 (617629) with variation in the RBM12 gene (607179). For associations pending confirmation, see MAPPING and MOLECULAR GENETICS.  http://www.omim.org/entry/181500
From MedlinePlus Genetics
Schizophrenia is a brain disorder classified as a psychosis, which means that it affects a person's thinking, sense of self, and perceptions. The disorder typically becomes evident during late adolescence or early adulthood.\n\nSigns and symptoms of schizophrenia include false perceptions called hallucinations. Auditory hallucinations of voices are the most common hallucinations in schizophrenia, but affected individuals can also experience hallucinations of visions, smells, or touch (tactile) sensations. Strongly held false beliefs (delusions) are also characteristic of schizophrenia. For example, affected individuals may be certain that they are a particular historical figure or that they are being plotted against or controlled by others.\n\nPeople with schizophrenia often have decreased ability to function at school, at work, and in social settings. Disordered thinking and concentration, inappropriate emotional responses, erratic speech and behavior, and difficulty with personal hygiene and everyday tasks can also occur. People with schizophrenia may have diminished facial expression and animation (flat affect), and in some cases become unresponsive (catatonic). Substance abuse and suicidal thoughts and actions are common in people with schizophrenia.\n\nCertain movement problems such as tremors, facial tics, rigidity, and unusually slow movement (bradykinesia) or an inability to move (akinesia) are common in people with schizophrenia. In most cases these are side effects of medicines prescribed to help control the disorder. However, some affected individuals exhibit movement abnormalities before beginning treatment with medication.\n\nSome people with schizophrenia have mild impairment of intellectual function, but schizophrenia is not associated with the same types of physical changes in the brain that occur in people with dementias such as Alzheimer disease.\n\nPsychotic disorders such as schizophrenia are different from mood disorders, including depression and bipolar disorder, which primarily affect emotions. However, these disorders often occur together. Individuals who exhibit strong features of both schizophrenia and mood disorders are often given the diagnosis of schizoaffective disorder.  https://medlineplus.gov/genetics/condition/schizophrenia

Clinical features

From HPO
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.
EEG abnormality
MedGen UID:
56235
Concept ID:
C0151611
Finding
Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.
Negativism
MedGen UID:
535413
Concept ID:
C0233610
Mental or Behavioral Dysfunction
Opposing or not responding to instructions or external stimuli.
Social and occupational deterioration
MedGen UID:
356663
Concept ID:
C1866986
Finding

Conditions with this feature

DiGeorge syndrome
MedGen UID:
4297
Concept ID:
C0012236
Disease or Syndrome
Individuals with 22q11.2 deletion syndrome (22q11.2DS) can present with a wide range of features that are highly variable, even within families. The major clinical manifestations of 22q11.2DS include congenital heart disease, particularly conotruncal malformations (ventricular septal defect, tetralogy of Fallot, interrupted aortic arch, and truncus arteriosus), palatal abnormalities (velopharyngeal incompetence, submucosal cleft palate, bifid uvula, and cleft palate), immune deficiency, characteristic facial features, and learning difficulties. Hearing loss can be sensorineural and/or conductive. Laryngotracheoesophageal, gastrointestinal, ophthalmologic, central nervous system, skeletal, and genitourinary anomalies also occur. Psychiatric illness and autoimmune disorders are more common in individuals with 22q11.2DS.
Keratosis follicularis
MedGen UID:
5956
Concept ID:
C0022595
Disease or Syndrome
Darier-White disease (DAR), also known as keratosis follicularis, is an autosomal dominant skin disorder characterized by warty papules and plaques in seborrheic areas (central trunk, flexures, scalp, and forehead), palmoplantar pits, and distinctive nail abnormalities (Sakuntabhai et al., 1999). Onset is usually before the third decade, and penetrance is complete in adults, although expressivity is variable. Involvement may be severe, with widespread itchy malodorous crusted plaques, painful erosions, blistering, and mucosal lesions. Secondary infection is common. Sun, heat, and sweating exacerbate the symptoms. Darier disease never remits, but oral retinoids may reduce hyperkeratosis. Neuropsychiatric abnormalities, including mild mental retardation and epilepsy, have been described in association with Darier disease in a few families (Burge and Wilkinson, 1992); whether this is an association based on pleiotropism of the mutant gene or reflects coincidence is not clear. Histologic findings are (1) mild nonspecific perivascular infiltration in the dermis; (2) dermal villi protruding into the epidermis; (3) suprabasal detachment of the spinal layer leading to the formation of lacunae containing acantholytic cells; (4) in the more superficial epidermis, dyskeratotic round epidermal cells ('corps ronds'), the most distinctive feature; and (5) in the stratum corneum, 'grains' that resemble parakeratotic cells embedded in a hyperkeratotic horny layer. Electron microscopy reveals loss of desmosomal attachments, perinuclear aggregations of keratin filaments, and cytoplasmic vacuolization. Ultrastructural and immunologic studies suggest the disease results from an abnormality in the desmosome-keratin filament complex leading to a breakdown in cell adhesion.
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.
Schizophrenia 1
MedGen UID:
65084
Concept ID:
C0220702
Mental or Behavioral Dysfunction
A schizophrenia that has material basis in an autosomal dominant mutation of SCZD1 on chromosome 5q23-q35.
Proline dehydrogenase deficiency
MedGen UID:
120645
Concept ID:
C0268529
Disease or Syndrome
Phang et al. (2001) noted that prospective studies of HPI probands identified through newborn screening as well as reports of several families have suggested that it is a metabolic disorder not clearly associated with clinical manifestations. Phang et al. (2001) concluded that HPI is a relatively benign condition in most individuals under most circumstances. However, other reports have suggested that some patients have a severe phenotype with neurologic manifestations, including epilepsy and mental retardation (Jacquet et al., 2003). Genetic Heterogeneity of Hyperprolinemia See also hyperprolinemia type II (HYRPRO2; 239510), which is caused by mutation in the gene encoding pyrroline-5-carboxylate dehydrogenase (P5CDH, ALDH4A1; 606811) on chromosome 1p36.
Schizophrenia 10
MedGen UID:
107776
Concept ID:
C0543918
Mental or Behavioral Dysfunction
A schizophrenia that has material basis in an autosomal dominant mutation of SCZD10 on chromosome 15q15.
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
MedGen UID:
162911
Concept ID:
C0796121
Disease or Syndrome
Primrose syndrome is characterized by macrocephaly, hypotonia, developmental delay, intellectual disability with expressive speech delay, behavioral issues, a recognizable facial phenotype, radiographic features, and altered glucose metabolism. Additional features seen in adults: sparse body hair, distal muscle wasting, and contractures. Characteristic craniofacial features include brachycephaly, high anterior hairline, deeply set eyes, ptosis, downslanted palpebral fissures, high palate with torus palatinus, broad jaw, and large ears with small or absent lobes. Radiographic features include calcification of the external ear cartilage, multiple Wormian bones, platybasia, bathrocephaly, slender bones with exaggerated metaphyseal flaring, mild epiphyseal dysplasia, and spondylar dysplasia. Additional features include hearing impairment, ocular anomalies, cryptorchidism, and nonspecific findings on brain MRI.
Intellectual disability, X-linked 9
MedGen UID:
167112
Concept ID:
C0796215
Disease or Syndrome
Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the FTSJ1 gene.
Schizophrenia 4
MedGen UID:
371517
Concept ID:
C1833247
Disease or Syndrome
A schizophrenia that has material basis in an autosomal dominant mutation of PRODH on chromosome 22q11.21.
Schizophrenia 3
MedGen UID:
324936
Concept ID:
C1838069
Mental or Behavioral Dysfunction
A schizophrenia that has material basis in an autosomal dominant mutation of SCZD3 on chromosome 6p23.
Chromosome 1q21.1 duplication syndrome
MedGen UID:
382715
Concept ID:
C2675891
Disease or Syndrome
1q21.1 microduplication is a chromosomal change in which a small amount of genetic material on chromosome 1 is abnormally copied (duplicated). The duplication occurs on the long (q) arm of the chromosome at a location designated q21.1.\n\nSome people with a 1q21.1 microduplication have developmental delay and intellectual disability that is typically mild to moderate. Individuals with this condition can also have features of autism spectrum disorder. These disorders are characterized by impaired communication and socialization skills, as well as delayed development of speech and language. Expressive language skills (vocabulary and the production of speech) tend to be more impaired than receptive language skills (the ability to understand speech) in affected individuals. In childhood, 1q21.1 microduplications may also be associated with an increased risk of attention-deficit/hyperactivity disorder (ADHD) and other behavioral problems. Psychiatric disorders such as schizophrenia or mood disorders such as anxiety or depression occur in some affected individuals, usually during adulthood. Rarely, recurrent seizures (epilepsy) occur in people with a 1q21.1 microduplication.\n\nSome individuals with a 1q21.1 microduplication are born with malformations of the heart, including a particular combination of heart defects known as tetralogy of Fallot. Less commonly, other physical malformations such as the urethra opening on the underside of the penis (hypospadias) in males, inward- and upward-turning feet (clubfeet), or misalignment of the hip joint (hip dysplasia) are present at birth. Individuals with a 1q21.1 microduplication may also have a larger than average head size or taller than average adult stature. Some have slightly unusual facial features such as wide-set eyes or low-set ears. As adults, individuals with a 1q21.1 microduplication may be prone to develop cysts, swollen and knotted (varicose) veins, or carpal tunnel syndrome, which is characterized by numbness, tingling, and weakness in the hands and fingers. However, there is no particular pattern of physical abnormalities that characterizes 1q21.1 microduplications. Signs and symptoms related to the chromosomal change vary even among affected members of the same family. Some people with the duplication have no identified physical, intellectual, or behavioral abnormalities.
Chromosome 1q21.1 deletion syndrome
MedGen UID:
393913
Concept ID:
C2675897
Congenital Abnormality
The 1q21.1 recurrent microdeletion itself does not appear to lead to a clinically recognizable syndrome as some persons with the deletion have no obvious clinical findings and others have variable findings that most commonly include microcephaly (50%), mild intellectual disability (30%), mildly dysmorphic facial features, and eye abnormalities (26%). Other findings can include cardiac defects, genitourinary anomalies, skeletal malformations, and seizures (~15%). Psychiatric and behavioral abnormalities can include autism spectrum disorders, attention deficit hyperactivity disorder, autistic features, and sleep disturbances.
Schizophrenia 15
MedGen UID:
462730
Concept ID:
C3151380
Mental or Behavioral Dysfunction
A schizophrenia that has material basis in a mutation of SHANK3 on chromosome 22q13.33.
Wolfram-like syndrome
MedGen UID:
481988
Concept ID:
C3280358
Disease or Syndrome
Autosomal dominant Wolfram-like syndrome is characterized by the clinical triad of congenital progressive hearing impairment, diabetes mellitus, and optic atrophy. The hearing impairment, which is usually diagnosed in the first decade of life, is relatively constant and alters mainly low- and middle-frequency ranges (summary by Valero et al., 2008). Wolfram syndrome (WFS1; 222300) is an autosomal recessive allelic disorder characterized by optic atrophy, diabetes mellitus, hearing loss, and diabetes insipidus, and is caused by homozygous or compound heterozygous mutation in the WFS1 gene. An autosomal dominant syndrome involving optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy (125250), is caused by heterozygous mutation in the OPA1 gene (605290).
Chromosome 17q12 deletion syndrome
MedGen UID:
482768
Concept ID:
C3281138
Disease or Syndrome
The 17q12 recurrent deletion syndrome is characterized by variable combinations of the three following findings: structural or functional abnormalities of the kidney and urinary tract, maturity-onset diabetes of the young type 5 (MODY5), and neurodevelopmental or neuropsychiatric disorders (e.g., developmental delay, intellectual disability, autism spectrum disorder, schizophrenia, anxiety, and bipolar disorder). Using a method of data analysis that avoids ascertainment bias, the authors determined that multicystic kidneys and other structural and functional kidney anomalies occur in 85% to 90% of affected individuals, MODY5 in approximately 40%, and some degree of developmental delay or learning disability in approximately 50%. MODY5 is most often diagnosed before age 25 years (range: age 10-50 years).
Schizophrenia 19
MedGen UID:
1613937
Concept ID:
C4539944
Mental or Behavioral Dysfunction
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
MedGen UID:
1620960
Concept ID:
C4540096
Disease or Syndrome
Mitochondrial myopathy and ataxia (MMYAT) is an autosomal recessive mtDNA depletion disorder characterized by cerebellar ataxia, congenital muscle involvement with histologic findings ranging from myopathic to dystrophic, and pigmentary retinopathy (summary by Donkervoort et al., 2019).
Neurodevelopmental disorder with speech impairment and dysmorphic facies
MedGen UID:
1758434
Concept ID:
C5436699
Disease or Syndrome
Neurodevelopmental disorder with speech impairment and dysmorphic facies (NEDSID) is characterized by developmental delay associated with mild to moderately impaired intellectual development or learning difficulties, behavioral or psychiatric abnormalities, and delayed speech and language acquisition. Additional features include dysmorphic facies, distal limb anomalies, gastrointestinal problems or feeding difficulties, and hypotonia. The phenotypic features and severity of the disorder are variable (summary by Kummeling et al., 2021).
Spinocerebellar ataxia, autosomal recessive 31
MedGen UID:
1786855
Concept ID:
C5543627
Disease or Syndrome
Autosomal recessive spinocerebellar ataxia-31 (SCAR31) is a complex neurodevelopmental disorder characterized by global developmental delay with hypotonia and variably impaired intellectual and language development. Affected individuals have an ataxic gait, tremor, and dysarthria; more severely affected patients also have spasticity with inability to walk. Most have optic atrophy. Brain imaging shows cerebellar hypoplasia, enlarged ventricles, and atrophy of the posterior corpus callosum. Additional features may include retinitis pigmentosa, sensorineural deafness, dysmorphic facial features, and possibly endocrine dysfunction (summary by Collier et al., 2021).

Professional guidelines

Recent clinical studies

Etiology

Wang D, Wang Y, Chen Y, Yu L, Wu Z, Liu R, Ren J, Fang X, Zhang C
Front Immunol 2022;13:958972. Epub 2022 Oct 19 doi: 10.3389/fimmu.2022.958972. PMID: 36341400Free PMC Article
Ueno F, Nakajima S, Iwata Y, Honda S, Torres-Carmona E, Mar W, Tsugawa S, Truong P, Plitman E, Noda Y, Mimura M, Sailasuta N, Mikkelsen M, Edden RAE, De Luca V, Remington G, Gerretsen P, Graff-Guerrero A
Psychiatry Clin Neurosci 2022 Nov;76(11):587-594. Epub 2022 Sep 16 doi: 10.1111/pcn.13463. PMID: 36111425
Jefsen OH, Nudel R, Wang Y, Bybjerg-Grauholm J, Hemager N, Christiani CAJ, Burton BK, Spang KS, Ellersgaard D, Gantriis DL, Plessen KJ, Jepsen JRM, Thorup AAE, Werge T, Nordentoft M, Mors O, Greve AN
Eur Psychiatry 2022 Aug 23;65(1):e53. doi: 10.1192/j.eurpsy.2022.2304. PMID: 35996886Free PMC Article
Petty A, Glass LJ, Rothmond DA, Purves-Tyson T, Sweeney A, Kondo Y, Kubo S, Matsumoto M, Weickert CS
J Neuroinflammation 2022 Jul 15;19(1):188. doi: 10.1186/s12974-022-02541-8. PMID: 35841099Free PMC Article
Fond G, Dubreucq J, de Verville PLS, Godin O, Andrieu-Haller C, Berna F, Aouizerate B, Capdevielle D, Chereau I, Clauss-Kobayashi J, Coulon N, Dorey JM, Dubertret C, Mallet J, Misdrahi D, Passerieux C, Rey R, Pignon B, Schürhoff F, Urbach M, Llorca PM, Lançon C, Boyer L; FACE-SZ. (FondaMental Academic Centers of Expertise for Schizophrenia) group.
Eur Arch Psychiatry Clin Neurosci 2022 Oct;272(7):1379-1384. Epub 2022 Mar 25 doi: 10.1007/s00406-021-01364-7. PMID: 35333961

Diagnosis

Wang D, Wang Y, Chen Y, Yu L, Wu Z, Liu R, Ren J, Fang X, Zhang C
Front Immunol 2022;13:958972. Epub 2022 Oct 19 doi: 10.3389/fimmu.2022.958972. PMID: 36341400Free PMC Article
Goh KK, Lu ML
J Psychiatr Res 2022 Nov;155:420-429. Epub 2022 Sep 21 doi: 10.1016/j.jpsychires.2022.09.013. PMID: 36182771
Petty A, Glass LJ, Rothmond DA, Purves-Tyson T, Sweeney A, Kondo Y, Kubo S, Matsumoto M, Weickert CS
J Neuroinflammation 2022 Jul 15;19(1):188. doi: 10.1186/s12974-022-02541-8. PMID: 35841099Free PMC Article
Onitsuka T, Hirano Y, Nakazawa T, Ichihashi K, Miura K, Inada K, Mitoma R, Yasui-Furukori N, Hashimoto R
Psychiatry Clin Neurosci 2022 Jul;76(7):282-291. Epub 2022 Apr 1 doi: 10.1111/pcn.13342. PMID: 35235256
Pardiñas AF, Smart SE, Willcocks IR, Holmans PA, Dennison CA, Lynham AJ, Legge SE, Baune BT, Bigdeli TB, Cairns MJ, Corvin A, Fanous AH, Frank J, Kelly B, McQuillin A, Melle I, Mortensen PB, Mowry BJ, Pato CN, Periyasamy S, Rietschel M, Rujescu D, Simonsen C, St Clair D, Tooney P, Wu JQ, Andreassen OA, Kowalec K, Sullivan PF, Murray RM, Owen MJ, MacCabe JH, O'Donovan MC, Walters JTR; Genetics Workstream of the Schizophrenia Treatment Resistance and Therapeutic Advances (STRATA) Consortium and the Schizophrenia Working Group of the Psychiatric Genomics Consortium (PGC)., Ajnakina O, Alameda L, Barnes TRE, Berardi D, Bonora E, Camporesi S, Cleusix M, Conus P, Crespo-Facorro B, D'Andrea G, Demjaha A, Do KQ, Doody GA, Eap CB, Ferchiou A, Di Forti M, Guidi L, Homman L, Jenni R, Joyce EM, Kassoumeri L, Khadimallah I, Lastrina O, Muratori R, Noyan H, O'Neill FA, Pignon B, Restellini R, Richard JR, Schürhoff F, Španiel F, Szöke A, Tarricone I, Tortelli A, Üçok A, Vázquez-Bourgon J
JAMA Psychiatry 2022 Mar 1;79(3):260-269. doi: 10.1001/jamapsychiatry.2021.3799. PMID: 35019943Free PMC Article

Therapy

Koch E, Kauppi K, Chen CH
Prog Neuropsychopharmacol Biol Psychiatry 2023 Jan 10;120:110637. Epub 2022 Sep 11 doi: 10.1016/j.pnpbp.2022.110637. PMID: 36099967
Fišar Z
Prog Neuropsychopharmacol Biol Psychiatry 2023 Jan 10;120:110626. Epub 2022 Aug 31 doi: 10.1016/j.pnpbp.2022.110626. PMID: 36055561
Ueno F, Nakajima S, Iwata Y, Honda S, Torres-Carmona E, Mar W, Tsugawa S, Truong P, Plitman E, Noda Y, Mimura M, Sailasuta N, Mikkelsen M, Edden RAE, De Luca V, Remington G, Gerretsen P, Graff-Guerrero A
Psychiatry Clin Neurosci 2022 Nov;76(11):587-594. Epub 2022 Sep 16 doi: 10.1111/pcn.13463. PMID: 36111425
Hu M, Xia Y, Zong X, Sweeney JA, Bishop JR, Liao Y, Giase G, Li B, Rubin LH, Wang Y, Li Z, He Y, Chen X, Liu C, Chen C, Tang J
Psychiatry Res 2022 Nov;317:114789. Epub 2022 Aug 23 doi: 10.1016/j.psychres.2022.114789. PMID: 36075150
Lähteenvuo M, Luykx JJ, Taipale H, Mittendorfer-Rutz E, Tanskanen A, Batalla A, Tiihonen J
Br J Psychiatry 2022 Dec;221(6):758-765. doi: 10.1192/bjp.2022.117. PMID: 36004532

Prognosis

Ueno F, Nakajima S, Iwata Y, Honda S, Torres-Carmona E, Mar W, Tsugawa S, Truong P, Plitman E, Noda Y, Mimura M, Sailasuta N, Mikkelsen M, Edden RAE, De Luca V, Remington G, Gerretsen P, Graff-Guerrero A
Psychiatry Clin Neurosci 2022 Nov;76(11):587-594. Epub 2022 Sep 16 doi: 10.1111/pcn.13463. PMID: 36111425
Jefsen OH, Nudel R, Wang Y, Bybjerg-Grauholm J, Hemager N, Christiani CAJ, Burton BK, Spang KS, Ellersgaard D, Gantriis DL, Plessen KJ, Jepsen JRM, Thorup AAE, Werge T, Nordentoft M, Mors O, Greve AN
Eur Psychiatry 2022 Aug 23;65(1):e53. doi: 10.1192/j.eurpsy.2022.2304. PMID: 35996886Free PMC Article
Fond G, Dubreucq J, de Verville PLS, Godin O, Andrieu-Haller C, Berna F, Aouizerate B, Capdevielle D, Chereau I, Clauss-Kobayashi J, Coulon N, Dorey JM, Dubertret C, Mallet J, Misdrahi D, Passerieux C, Rey R, Pignon B, Schürhoff F, Urbach M, Llorca PM, Lançon C, Boyer L; FACE-SZ. (FondaMental Academic Centers of Expertise for Schizophrenia) group.
Eur Arch Psychiatry Clin Neurosci 2022 Oct;272(7):1379-1384. Epub 2022 Mar 25 doi: 10.1007/s00406-021-01364-7. PMID: 35333961
Onitsuka T, Hirano Y, Nakazawa T, Ichihashi K, Miura K, Inada K, Mitoma R, Yasui-Furukori N, Hashimoto R
Psychiatry Clin Neurosci 2022 Jul;76(7):282-291. Epub 2022 Apr 1 doi: 10.1111/pcn.13342. PMID: 35235256
Pinjari OF, Dasgupta SK, Okusaga OO
Psychiatr Q 2022 Mar;93(1):335-345. Epub 2021 Oct 2 doi: 10.1007/s11126-021-09954-3. PMID: 34599734

Clinical prediction guides

Ueno F, Nakajima S, Iwata Y, Honda S, Torres-Carmona E, Mar W, Tsugawa S, Truong P, Plitman E, Noda Y, Mimura M, Sailasuta N, Mikkelsen M, Edden RAE, De Luca V, Remington G, Gerretsen P, Graff-Guerrero A
Psychiatry Clin Neurosci 2022 Nov;76(11):587-594. Epub 2022 Sep 16 doi: 10.1111/pcn.13463. PMID: 36111425
Jefsen OH, Nudel R, Wang Y, Bybjerg-Grauholm J, Hemager N, Christiani CAJ, Burton BK, Spang KS, Ellersgaard D, Gantriis DL, Plessen KJ, Jepsen JRM, Thorup AAE, Werge T, Nordentoft M, Mors O, Greve AN
Eur Psychiatry 2022 Aug 23;65(1):e53. doi: 10.1192/j.eurpsy.2022.2304. PMID: 35996886Free PMC Article
Fond G, Dubreucq J, de Verville PLS, Godin O, Andrieu-Haller C, Berna F, Aouizerate B, Capdevielle D, Chereau I, Clauss-Kobayashi J, Coulon N, Dorey JM, Dubertret C, Mallet J, Misdrahi D, Passerieux C, Rey R, Pignon B, Schürhoff F, Urbach M, Llorca PM, Lançon C, Boyer L; FACE-SZ. (FondaMental Academic Centers of Expertise for Schizophrenia) group.
Eur Arch Psychiatry Clin Neurosci 2022 Oct;272(7):1379-1384. Epub 2022 Mar 25 doi: 10.1007/s00406-021-01364-7. PMID: 35333961
Onitsuka T, Hirano Y, Nakazawa T, Ichihashi K, Miura K, Inada K, Mitoma R, Yasui-Furukori N, Hashimoto R
Psychiatry Clin Neurosci 2022 Jul;76(7):282-291. Epub 2022 Apr 1 doi: 10.1111/pcn.13342. PMID: 35235256
Pardiñas AF, Smart SE, Willcocks IR, Holmans PA, Dennison CA, Lynham AJ, Legge SE, Baune BT, Bigdeli TB, Cairns MJ, Corvin A, Fanous AH, Frank J, Kelly B, McQuillin A, Melle I, Mortensen PB, Mowry BJ, Pato CN, Periyasamy S, Rietschel M, Rujescu D, Simonsen C, St Clair D, Tooney P, Wu JQ, Andreassen OA, Kowalec K, Sullivan PF, Murray RM, Owen MJ, MacCabe JH, O'Donovan MC, Walters JTR; Genetics Workstream of the Schizophrenia Treatment Resistance and Therapeutic Advances (STRATA) Consortium and the Schizophrenia Working Group of the Psychiatric Genomics Consortium (PGC)., Ajnakina O, Alameda L, Barnes TRE, Berardi D, Bonora E, Camporesi S, Cleusix M, Conus P, Crespo-Facorro B, D'Andrea G, Demjaha A, Do KQ, Doody GA, Eap CB, Ferchiou A, Di Forti M, Guidi L, Homman L, Jenni R, Joyce EM, Kassoumeri L, Khadimallah I, Lastrina O, Muratori R, Noyan H, O'Neill FA, Pignon B, Restellini R, Richard JR, Schürhoff F, Španiel F, Szöke A, Tarricone I, Tortelli A, Üçok A, Vázquez-Bourgon J
JAMA Psychiatry 2022 Mar 1;79(3):260-269. doi: 10.1001/jamapsychiatry.2021.3799. PMID: 35019943Free PMC Article

Recent systematic reviews

de Bartolomeis A, Barone A, Vellucci L, Mazza B, Austin MC, Iasevoli F, Ciccarelli M
Mol Neurobiol 2022 Oct;59(10):6460-6501. Epub 2022 Aug 13 doi: 10.1007/s12035-022-02976-3. PMID: 35963926Free PMC Article
Lestra V, Romeo B, Martelli C, Benyamina A, Hamdani N
Schizophr Res 2022 Aug;246:175-186. Epub 2022 Jul 1 doi: 10.1016/j.schres.2022.06.026. PMID: 35785580
Crossley NA, Alliende LM, Czepielewski LS, Aceituno D, Castañeda CP, Diaz C, Iruretagoyena B, Mena C, Mena C, Ramirez-Mahaluf JP, Tepper A, Vasquez J, Fonseca L, Machado V, Hernández CE, Vargas-Upegui C, Gomez-Cruz G, Kobayashi-Romero LF, Moncada-Habib T, Arango C, Barch DM, Carter C, Correll CU, Freimer NB, McGuire P, Evans-Lacko S, Undurraga E, Bressan R, Gama CS, Lopez-Jaramillo C, de la Fuente-Sandoval C, Gonzalez-Valderrama A, Undurraga J, Gadelha A
Lancet Psychiatry 2022 Jul;9(7):565-573. doi: 10.1016/S2215-0366(22)00121-3. PMID: 35717966
Woolway GE, Smart SE, Lynham AJ, Lloyd JL, Owen MJ, Jones IR, Walters JTR, Legge SE
Schizophr Bull 2022 Sep 1;48(5):967-980. doi: 10.1093/schbul/sbac049. PMID: 35674151Free PMC Article
Nyanyiwa S, Peters K, Murphy G
J Clin Nurs 2022 Nov;31(21-22):3060-3075. Epub 2022 Jan 18 doi: 10.1111/jocn.16219. PMID: 35043496

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