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Copyright V. Ventruto / A. Di Luccio
Genus database
23409
schizophrenia-1
Eponyms:
Inheritance:
SCZD1
autosomal dominant
genetic heterogeneity
multifactorial
Semeiological Neurological disorder, isolated defect. Juvenile/adult onset; psychotic syndromes in previously normal subject,
schizophrenic disorders, paranoid hebephrenic disturbance, hallucinations, delusions. Genetic risk: sib 9%;
Synthesis:
parent 13%; sib and one parent 15%; both parents 45%; second degree relative 3%; first cousin 1-2%.
Group
Sub group
Signs:
LABORATORY DATA
chromosomal assignment
chromosome 13q localization
chromosome 21q localization
chromosome 22q localization
chromosome 3q localization
chromosome 5q localization
chromosome 8p localization
chromosome X localization
chromosome Xp localization
gene, structural-functional anomalies
APOL1, gene chr.22q12.3
APP (CVAP) (AAA) (AD1) amyloid
beta(A4)precursor protein, gene chr.21q21
CHRNA7 cholinergic receptor nicotinic, alpha
polypeptide 7, gene chr.15q14
DRD3 dopamine receptor D3, gene chr.3q13.3
gene analysis-DNA analysis
HTR2A, 5-hydroxytryptamine (serotonin,5-HT)
receptor 2A, gene chr.13q14
NRG1 (HLG) (HRGA) (ARIA), gene chr.8p22p11
PRODH (PRODH2), gene chr.22q11.2
SCZD1 schizophrenia disorder-1, gene
chr.5q11.2-q13.3
plasma, enzymes, modified functions
monoamine oxidase B (MAO) , low activity
tissue, biochemical changes
monoamine oxidase B (MAOB) , low activity
NEUROLOGICAL DISORDERS
neurological dysfunctions
isolated neurologic disorders
performance changes, not including mental
retardation
dementia
psychosis, manic-depression illness,
confusion, hallucination
OROCRANIOFACIAL ANOMALIES
forehead-orbital region, changes
frontal bossing
OTHERS
inheritance
inheritance, autosomal dominant
inheritance, genetic heterogeneity
inheritance, multifactorial
PRENATAL-NEONATAL MODIFIED DATA
foetal changes
foetal changes, recognized by laboratory data
prenatal diagnosis
prenatal diagnosis, molecular
schizophrenia-1
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Copyright V. Ventruto / A. Di Luccio
Genus database
Super group:
Super aggreg. FOETAL CHANGES
foetal changes, recognized by laboratory data
Aggregations:
ISOLATED NEUROLOGICAL DISORDERS
isolated neurological disorders
Differential
diagnosis:
Bibliography
schizophrenia-1
12320
5550
13993
15581
15580
28482
28573
26370
homocystinuria
Huntington disease
Kleine-Levin hibernation syndrome
manic-depressive psychosis 1
manic-depressive psychosis 2
schizophrenia-3
schizophrenia-4
velocardiofacial syndrome
OMIM ID: 181510
Clin.Genet.55(6),455-460,1999
OMIM ID: 182135
Lancet 359(9304),426-430,2002
OMIM ID: 104760
OMIM ID: 118511
OMIM ID: 126451
OMIM ID: 181500
OMIM ID: 606810
OMIM ID: 603013
OMIM ID: 142445
OMIM ID: 603743
OMIM ID: 181510
Peter S.Harper: Practical Genetic Counselling. 6th Ed. 2004 pag. 205-206
Annuario Orphanet-Italia delle Malattie Rare, 2005 pag. 732
Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.26022614,2007
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