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encyclopedia of Rare Disease Annotation for Precision Medicine

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	neuroleptic malignant syndrome

Disease ID	774
Disease	neuroleptic malignant syndrome
Definition	A potentially fatal syndrome associated primarily with the use of neuroleptic agents (see ANTIPSYCHOTIC AGENTS) which are in turn associated with dopaminergic receptor blockade (see RECEPTORS, DOPAMINE) in the BASAL GANGLIA and HYPOTHALAMUS, and sympathetic dysregulation. Clinical features include diffuse MUSCLE RIGIDITY; TREMOR; high FEVER; diaphoresis; labile blood pressure; cognitive dysfunction; and autonomic disturbances. Serum CPK level elevation and a leukocytosis may also be present. (From Adams et al., Principles of Neurology, 6th ed, p1199; Psychiatr Serv 1998 Sep;49(9):1163-72)
Synonym	malignant neuroleptic malignant neuroleptic syndrome neuroleptic malgnt synd neuroleptic malignant neuroleptic malignant syndrome (disorder) neuroleptic malignant syndrome -retired- neuroleptic malignant syndrome [disease/finding] neuroleptic malignant syndromes nms nms (neuroleptic malignant syndrome) nms - neuroleptic malignant syndrome nmss (neuroleptic malignant syndrome) syndrome, neuroleptic malignant syndromes, neuroleptic malignant
Orphanet	ORPHANET:94093
DOID	DOID:14464
ICD10	ICD10CM:G21.0
UMLS	C0027849
MeSH	D009459
SNOMED-CT	SNOMEDCT_US_2016_09_01:15244003
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:10) C0020179 \| huntington's disease \| 1 C0497327 \| dementia \| 1 C0153349 \| tongue cancer \| 1 C0024586 \| serotonin syndrome \| 1 C0014038 \| encephalitis \| 1 C0752347 \| dementia with lewy bodies \| 1 C0005586 \| bipolar affective disorder \| 1 C0027145 \| myxedema \| 1 C0024591 \| malignant hyperthermia \| 1 C0011570 \| depression \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:5) 1565 \| CYP2D6 \| CIPHER 1813 \| DRD2 \| CIPHER 3350 \| HTR1A \| CIPHER 3356 \| HTR2A \| CIPHER 6261 \| RYR1 \| CIPHER
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:34) 551 \| AVP \| 2.848 \| DISEASES 1312 \| COMT \| 1.736 \| DISEASES 1376 \| CPT2 \| 2.084 \| DISEASES 1544 \| CYP1A2 \| 1.984 \| DISEASES 1565 \| CYP2D6 \| 4.572 \| DISEASES 1813 \| DRD2 \| 2.951 \| DISEASES 1814 \| DRD3 \| 1.79 \| DISEASES 2058 \| EPRS \| 1.439 \| DISEASES 2643 \| GCH1 \| 1.604 \| DISEASES 2903 \| GRIN2A \| 1.287 \| DISEASES 3347 \| HTN3 \| 1.985 \| DISEASES 3356 \| HTR2A \| 2.592 \| DISEASES 3363 \| HTR7 \| 3.019 \| DISEASES 3397 \| ID1 \| 1.469 \| DISEASES 3418 \| IDH2 \| 1.054 \| DISEASES 3712 \| IVD \| 1.461 \| DISEASES 102723508 \| KANTR \| 1.661 \| DISEASES 4128 \| MAOA \| 1.101 \| DISEASES 4151 \| MB \| 4.517 \| DISEASES 104564225 \| MHRT \| 2.607 \| DISEASES 64223 \| MLST8 \| 2.416 \| DISEASES 4566 \| MT-TK \| 1.327 \| DISEASES 4698 \| NDUFA5 \| 2.774 \| DISEASES 4720 \| NDUFS2 \| 1.95 \| DISEASES 378884 \| NHLRC1 \| 3.989 \| DISEASES 4958 \| OMD \| 2.181 \| DISEASES 4988 \| OPRM1 \| 1.43 \| DISEASES 5293 \| PIK3CD \| 2.614 \| DISEASES 5294 \| PIK3CG \| 1.551 \| DISEASES 112476 \| PRRT2 \| 1.759 \| DISEASES 6261 \| RYR1 \| 3.555 \| DISEASES 6263 \| RYR3 \| 2.75 \| DISEASES 246744 \| STH \| 1.659 \| DISEASES 7056 \| THBD \| 1.648 \| DISEASES
Locus	(Waiting for update.)

Disease ID	774
Disease	neuroleptic malignant syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:14) HP:0001945 \| Fever \| 3 HP:0001259 \| Coma \| 2 HP:0002185 \| Paired helical filaments \| 1 HP:0000726 \| Dementia \| 1 HP:0100785 \| Insomnia \| 1 HP:0001649 \| Tachycardia \| 1 HP:0001249 \| Mental retardation \| 1 HP:0008942 \| Rhabdomyolysis, acute \| 1 HP:0002383 \| Encephalitis \| 1 HP:0001907 \| Thromboembolic disease \| 1 HP:0000716 \| Depression \| 1 HP:0003201 \| Rhabdomyolysis \| 1 HP:0002047 \| Malignant hyperthermia \| 1 HP:0007302 \| Bipolar disorder \| 1

Disease ID	774
Disease	neuroleptic malignant syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:11) C0752335 \| neuropsychiatric systemic lupus erythematosus C0262404 \| cerebellar degeneration C0241831 \| cerebral salt-wasting syndrome C0162557 \| fulminant liver failure C0040034 \| thrombocytopenia C0038868 \| progressive supranuclear palsy C0038454 \| cerebral infarction C0022660 \| acute renal failure C0020625 \| hyponatremia C0018801 \| cardiac failure C0007459 \| neurogenic bladder
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:1)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs1801028	15094790	1813	DRD2	umls:C0027849	BeFree	We therefore investigated the association between NMS and three functional polymorphisms of the dopamine D(2) receptor (DRD(2)) gene: TaqI A, -141C Ins/Del, and Ser311Cys.	0.01444989	2004	DRD2	11	113412762	G	C

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	774
Disease	neuroleptic malignant syndrome
Case	(Waiting for update.)

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