PedAM

Pediatric Disease Annotations & Medicines


	stiff-person syndrome

Disease ID	645
Disease	stiff-person syndrome
Definition	A condition characterized by persistent spasms (SPASM) involving multiple muscles, primarily in the lower limbs and trunk. The illness tends to occur in the fourth to sixth decade of life, presenting with intermittent spasms that become continuous. Minor sensory stimuli, such as noise and light touch, precipitate severe spasms. Spasms do not occur during sleep and only rarely involve cranial muscles. Respiration may become impaired in advanced cases. (Adams et al., Principles of Neurology, 6th ed, p1492; Neurology 1998 Jul;51(1):85-93)
Synonym	congenital stiff man syndrome congenital stiff-man syndrome congenital stiff-man syndromes congenital stiff-person syndrome congenital stiff-person syndromes gamma neuron overactivity syndrome mans stiff syndrome moersch woltman syndrome moersch woltmann syndrome moersch-woltman syndrome moersch-woltmann syndrome muscular rigidity and spasm, progressive person stiff syndrome persons stiff syndrome sps startle syndrome startle syndromes stiff man syndrome stiff mans syndrome stiff person syndrome stiff trunk syndrome stiff-baby syndrome stiff-baby syndromes stiff-man syndrome stiff-man syndrome (disorder) stiff-man syndrome, congenital stiff-man syndromes, congenital stiff-person syndrome [disease/finding] stiff-person syndrome, congenital stiff-person syndromes, congenital stiff-trunk syndrome stiff-trunk syndromes stiffman syndrome syndrome, congenital stiff-man syndrome, congenital stiff-person syndrome, moersch-woltmann syndrome, startle syndrome, stiff-baby syndrome, stiff-man syndrome, stiff-person syndrome, stiff-trunk syndrome, stiffman syndromes, congenital stiff-man syndromes, congenital stiff-person syndromes, startle syndromes, stiff-baby syndromes, stiff-trunk
OMIM	OMIM:184850 OMIM:607429 OMIM:149400
DOID	DOID:13366
ICD10	ICD10CM:G25.82
UMLS	C0085292
MeSH	D016750
SNOMED-CT	SNOMEDCT_US_2016_09_01:5217008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:13) C0011847 \| diabetes \| 2 C0040100 \| thymoma \| 2 C0024141 \| systemic lupus erythematosus \| 1 C0037315 \| sleep apnea \| 1 C0032285 \| pneumonia \| 1 C0339143 \| thyroid ophthalmopathy \| 1 C0002892 \| pernicious anemia \| 1 C0002871 \| anemia \| 1 C0409974 \| lupus erythematosus \| 1 C0520680 \| central sleep apnea \| 1 C0021053 \| immune disease \| 1 C0339143 \| dysthyroid ophthalmopathy \| 1 C0278848 \| recurrent thymoma \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) PDSS1 \| 23590 \| OMIM
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:72) 608 \| TNFRSF17 \| DISEASES 79931 \| TNIP3 \| DISEASES 266 \| AMELY \| DISEASES 5957 \| RCVRN \| DISEASES 5967 \| REG1A \| DISEASES 8574 \| AKR7A2 \| DISEASES 7166 \| TPH1 \| DISEASES 3630 \| INS \| DISEASES 56301 \| SLC7A10 \| DISEASES 2572 \| GAD2 \| DISEASES 23495 \| TNFRSF13B \| DISEASES 55717 \| WDR11 \| DISEASES 51380 \| CSAD \| DISEASES 1039 \| CDR2 \| DISEASES 402665 \| IGLON5 \| DISEASES 3742 \| KCNA6 \| DISEASES 288 \| ANK3 \| DISEASES 339896 \| GADL1 \| DISEASES 2911 \| GRM1 \| DISEASES 7545 \| ZIC1 \| DISEASES 56896 \| DPYSL5 \| DISEASES 115650 \| TNFRSF13C \| DISEASES 5731 \| PTGER1 \| DISEASES 5798 \| PTPRN \| DISEASES 478 \| ATP1A3 \| DISEASES 11337 \| GABARAP \| DISEASES 6844 \| VAMP2 \| DISEASES 2907 \| GRINA \| DISEASES 3737 \| KCNA2 \| DISEASES 274 \| BIN1 \| DISEASES 7173 \| TPO \| DISEASES 79155 \| TNIP2 \| DISEASES 22906 \| TRAK1 \| DISEASES 6900 \| CNTN2 \| DISEASES 3751 \| KCND2 \| DISEASES 3329 \| HSPD1 \| DISEASES 7273 \| TTN \| DISEASES 3921 \| RPSA \| DISEASES 26289 \| AK5 \| DISEASES 273 \| AMPH \| DISEASES 170685 \| NUDT10 \| DISEASES 5733 \| PTGER3 \| DISEASES 1996 \| ELAVL4 \| DISEASES 1644 \| DDC \| DISEASES 2571 \| GAD1 \| DISEASES 1995 \| ELAVL3 \| DISEASES 9374 \| PPT2 \| DISEASES 4976 \| OPA1 \| DISEASES 26047 \| CNTNAP2 \| DISEASES 25802 \| LMOD1 \| DISEASES 9892 \| SNAP91 \| DISEASES 1038 \| CDR1 \| DISEASES 959 \| CD40LG \| DISEASES 9211 \| LGI1 \| DISEASES 100507436 \| MICA \| DISEASES 1804 \| DPP6 \| DISEASES 8718 \| TNFRSF25 \| DISEASES 7054 \| TH \| DISEASES 361 \| AQP4 \| DISEASES 3898 \| LAD1 \| DISEASES 4099 \| MAG \| DISEASES 9454 \| HOMER3 \| DISEASES 2643 \| GCH1 \| DISEASES 3267 \| AGFG1 \| DISEASES 2741 \| GLRA1 \| DISEASES 10243 \| GPHN \| DISEASES 51428 \| DDX41 \| DISEASES 10687 \| PNMA2 \| DISEASES 9152 \| SLC6A5 \| DISEASES 820 \| CAMP \| DISEASES 102723508 \| KANTR \| DISEASES 103164619 \| PCAT2 \| DISEASES
Locus	(Waiting for update.)

Disease ID	645
Disease	stiff-person syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:10) HP:0002960 \| Autoimmune condition \| 2 HP:0100522 \| Thymoma \| 2 HP:0002104 \| Absence of spontaneous respiration \| 1 HP:0001903 \| Anemia \| 1 HP:0012538 \| Gluten sensitivity \| 1 HP:0002487 \| Muscle spasms \| 1 HP:0010536 \| Central sleep apnoea \| 1 HP:0002725 \| Systemic lupus erythematosus \| 1 HP:0002090 \| Pneumonia \| 1 HP:0010535 \| Sleep apnea \| 1

Disease ID	645
Disease	stiff-person syndrome
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:2) C0850024 \| gluten sensitivity \| 1 C0037763 \| muscle spasms \| 1

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

All Snps(Total Genotypes:2)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs143918578	22753417	9152	SLC6A5	umls:C0085292	BeFree	A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2.	0.001900093	2012	SLC6A5	11	20652332	A	G
rs281864914	16078201	2741	GLRA1	umls:C0085292	BeFree	Recessive hyperekplexia due to a new mutation (R100H) in the GLRA1 gene.	0.010857675	2005	GLRA1	5	151859962	C	T

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.)

Chemical(Total Drugs:1)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0085292	baclofen	D001418	1134-47-0	stiff-person syndrome	MESH:D016750	therapeutic	12821743

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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