eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine

HOME
QUERY
- DISEASE
- GENOTYPE
NETWORK
- PHENOTYPE
- GENE
- COMMON
- DISEASE PAIR
DOWNLOAD
SUBMIT CASE
HELP&FAQ
- HELP&FAQ
- CONTACT US


	west syndrome

Disease ID	428
Disease	west syndrome
Definition	An epileptic syndrome characterized by the triad of infantile spasms, hypsarrhythmia, and arrest of psychomotor development at seizure onset. The majority present between 3-12 months of age, with spasms consisting of combinations of brief flexor or extensor movements of the head, trunk, and limbs. The condition is divided into two forms: cryptogenic (idiopathic) and symptomatic (secondary to a known disease process such as intrauterine infections; nervous system abnormalities; BRAIN DISEASES, METABOLIC, INBORN; prematurity; perinatal asphyxia; TUBEROUS SCLEROSIS; etc.). (From Menkes, Textbook of Child Neurology, 5th ed, pp744-8)
Synonym	attack, lightning attacks, lightning hypsarrhythmia infantile spasm infantile spasms infantile spasms - hypsarrhythmia infantile spasms - hypsarrythmia infantile spasms nos infantile spasms nos (disorder) lightning attack lightning attacks lightning spasms salaam attacks salaam seizures spasm infantile spasms, infantile spasms, infantile [disease/finding] syndrome west syndrome, west west syndrome (disorder) west syndrome (finding) west's syndrome
Orphanet	ORPHANET:3451
DOID	DOID:0050562 DOID:2481
UMLS	C0037769
MeSH	D013036
SNOMED-CT	SNOMEDCT_US_2016_09_01:28055006
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:31) C0041341 \| tuberous sclerosis \| 8 C0037769 \| infantile spasms \| 7 C0037769 \| west syndrome \| 5 C0014544 \| epilepsy \| 5 C0041341 \| tuberous sclerosis complex \| 4 C0020757 \| ichthyosis \| 1 C0699743 \| congenital muscular dystrophy \| 1 C0026850 \| muscular dystrophy \| 1 C0004352 \| autism \| 1 C0025362 \| mental retardation \| 1 C0018552 \| hamartoma \| 1 C0085110 \| severe combined immunodeficiency \| 1 C0266463 \| lissencephaly \| 1 C0014547 \| localization-related epilepsies \| 1 C0040560 \| congenital toxoplasmosis \| 1 C1865349 \| ethylmalonic encephalopathy \| 1 C1275081 \| cardio-facio-cutaneous syndrome \| 1 C0270921 \| axonal neuropathy \| 1 C0085110 \| severe combined immunodefic \| 1 C0342418 \| hypothalamic hamartoma \| 1 C0042847 \| vitamin b12 defic \| 1 C0014544 \| epilepsies \| 1 C0042847 \| vitamin b12 deficiency \| 1 C2699199 \| 1p36 deletion syndrome \| 1 C0022735 \| klinefelter's syndrome \| 1 C0268583 \| methylmalonic aciduria \| 1 C0265220 \| pallister-hall syndrome \| 1 C0035372 \| rett syndrome \| 1 C0175702 \| williams syndrome \| 1 C0442874 \| neuropathy \| 1 C0040558 \| toxoplasmosis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:15) 23236 \| PLCB1 \| ORPHANET 7248 \| TSC1 \| CTD_human 7249 \| TSC2 \| CTD_human 5443 \| POMC \| CTD_human 170302 \| ARX \| ORPHANET;UNIPROT 2904 \| GRIN2B \| ORPHANET 6487 \| ST3GAL3 \| ORPHANET 6792 \| CDKL5 \| ORPHANET;UNIPROT 1392 \| CRH \| CTD_human 3295 \| HSD17B4 \| CTD_human 6326 \| SCN2A \| ORPHANET 5277 \| PIGA \| ORPHANET 6709 \| SPTAN1 \| ORPHANET 150094 \| SIK1 \| ORPHANET 51733 \| UPB1 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:9) 2902 \| GRIN1 \| CIPHER 4158 \| MC2R \| CIPHER 4160 \| MC4R \| CIPHER 7249 \| TSC2 \| CTD_human 3295 \| HSD17B4 \| CTD_human 7248 \| TSC1 \| CTD_human 5443 \| POMC \| CTD_human 1392 \| CRH \| CTD_human 51733 \| UPB1 \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:73) 2334 \| AFF2 \| 1.22 \| DISEASES 79868 \| ALG13 \| 3.729 \| DISEASES 250 \| ALPP \| 3.088 \| DISEASES 273 \| AMPH \| 1.151 \| DISEASES 10564 \| ARFGEF2 \| 2.567 \| DISEASES 170302 \| ARX \| 4.963 \| DISEASES 23545 \| ATP6V0A2 \| 1.527 \| DISEASES 53335 \| BCL11A \| 1.283 \| DISEASES 254065 \| BRWD3 \| 3.248 \| DISEASES 781 \| CACNA2D1 \| 2.459 \| DISEASES 83698 \| CALN1 \| 3.207 \| DISEASES 6792 \| CDKL5 \| 5.469 \| DISEASES 1139 \| CHRNA7 \| 1.391 \| DISEASES 56259 \| CTNNBL1 \| 1.951 \| DISEASES 55157 \| DARS2 \| 2.528 \| DISEASES 1741 \| DLG3 \| 2.839 \| DISEASES 1759 \| DNM1 \| 1.421 \| DISEASES 22845 \| DOLK \| 2.5 \| DISEASES 1778 \| DYNC1H1 \| 2.048 \| DISEASES 10938 \| EHD1 \| 1.223 \| DISEASES 79813 \| EHMT1 \| 1.829 \| DISEASES 2153 \| F5 \| 1.041 \| DISEASES 2316 \| FLNA \| 1.864 \| DISEASES 2290 \| FOXG1 \| 2.715 \| DISEASES 3607 \| FOXK2 \| 2.436 \| DISEASES 24140 \| FTSJ1 \| 2.762 \| DISEASES 2593 \| GAMT \| 1.645 \| DISEASES 3295 \| HSD17B4 \| 1.601 \| DISEASES 102723508 \| KANTR \| 4.738 \| DISEASES 3785 \| KCNQ2 \| 6.012 \| DISEASES 57582 \| KCNT1 \| 3.675 \| DISEASES 3908 \| LAMA2 \| 1.02 \| DISEASES 9863 \| MAGI2 \| 3.062 \| DISEASES 256691 \| MAMDC2 \| 3.364 \| DISEASES 4204 \| MECP2 \| 3.086 \| DISEASES 4205 \| MEF2A \| 1.069 \| DISEASES 4208 \| MEF2C \| 1.164 \| DISEASES 4535 \| MT-ND1 \| 1.487 \| DISEASES 4729 \| NDUFV2 \| 2.22 \| DISEASES 4734 \| NEDD4 \| 1.362 \| DISEASES 4763 \| NF1 \| 1.48 \| DISEASES 4821 \| NKX2-2 \| 1.51 \| DISEASES 7025 \| NR2F1 \| 1.806 \| DISEASES 7026 \| NR2F2 \| 1.609 \| DISEASES 5048 \| PAFAH1B1 \| 2.84 \| DISEASES 57526 \| PCDH19 \| 2.732 \| DISEASES 5160 \| PDHA1 \| 1.728 \| DISEASES 26227 \| PHGDH \| 1.854 \| DISEASES 284098 \| PIGW \| 3.126 \| DISEASES 23236 \| PLCB1 \| 1.554 \| DISEASES 11284 \| PNKP \| 2.246 \| DISEASES 5456 \| POU3F4 \| 1.558 \| DISEASES 112476 \| PRRT2 \| 1.199 \| DISEASES 5962 \| RDX \| 1.055 \| DISEASES 388015 \| RTL1 \| 2.341 \| DISEASES 404552 \| SCGB1D4 \| 1.328 \| DISEASES 6336 \| SCN10A \| 1.458 \| DISEASES 6324 \| SCN1B \| 1.555 \| DISEASES 6334 \| SCN8A \| 2.319 \| DISEASES 55209 \| SETD5 \| 2.903 \| DISEASES 79751 \| SLC25A22 \| 3.748 \| DISEASES 6513 \| SLC2A1 \| 2.635 \| DISEASES 6709 \| SPTAN1 \| 3.675 \| DISEASES 6711 \| SPTBN1 \| 2.125 \| DISEASES 10011 \| SRA1 \| 1.373 \| DISEASES 9901 \| SRGAP3 \| 2.256 \| DISEASES 6812 \| STXBP1 \| 5.288 \| DISEASES 79718 \| TBL1XR1 \| 2.783 \| DISEASES 283989 \| TSEN54 \| 2.386 \| DISEASES 113457 \| TUBA3D \| 1.988 \| DISEASES 7321 \| UBE2D1 \| 1.146 \| DISEASES 51733 \| UPB1 \| 2.552 \| DISEASES 11152 \| WDR45 \| 2.184 \| DISEASES
Locus	Symbol \| Locus(Total Locus:10) PIGA \| Xp22.2 PLCB1 \| 20p12.3 GUF1 \| 4p12 SCN2A \| 2q24.3 ARX \| Xp21.3 SPTAN1 \| 9q34.11 GRIN2B \| 12p13.1 ST3GAL3 \| 1p34.1 SIK1 \| 21q22.3 CDKL5 \| Xp22.13

Disease ID	428
Disease	west syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:35) HP:0001250 \| Seizures \| 11 HP:0012469 \| Infantile spasms \| 7 HP:0001298 \| Encephalopathy \| 6 HP:0002521 \| Hypsarrhythmia by EEG \| 6 HP:0011097 \| Salaam convulsions \| 4 HP:0002459 \| Dysautonomia \| 2 HP:0002448 \| Progressive encephalopathy \| 2 HP:0002539 \| Cortical dysplasia \| 2 HP:0006808 \| Cerebral hypomyelination \| 2 HP:0001263 \| Developmental retardation \| 2 HP:0200134 \| Epileptic encephalopathy \| 2 HP:0010566 \| Hamartoma \| 1 HP:0001992 \| Organic aciduria \| 1 HP:0000505 \| Poor vision \| 1 HP:0008064 \| Ichthyosis \| 1 HP:0010819 \| drop attacks \| 1 HP:0003643 \| Sulfite oxidase deficiency \| 1 HP:0000717 \| Autism \| 1 HP:0007281 \| Developmental stagnation \| 1 HP:0007359 \| Partial seizures \| 1 HP:0001339 \| Lissencephaly \| 1 HP:0001945 \| Fever \| 1 HP:0005387 \| Combined immunodeficiency \| 1 HP:0011170 \| Myoclonic atonic seizures \| 1 HP:0001631 \| Atria septal defect \| 1 HP:0012120 \| Methymalonicaciduria \| 1 HP:0002444 \| Hypothalamic hamartoma \| 1 HP:0001249 \| Mental retardation \| 1 HP:0003477 \| Peripheral axonal neuropathy \| 1 HP:0004430 \| Severe combined immunodeficiency \| 1 HP:0003219 \| Ethylmalonic aciduria \| 1 HP:0001302 \| Cerebral pachygyria \| 1 HP:0001336 \| Myoclonic jerks \| 1 HP:0100502 \| Vitamin B12 deficiency \| 1 HP:0000062 \| Ambiguous external genitalia \| 1

Disease ID	428
Disease	west syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:16) C2700524 \| leigh syndrome C2047214 \| human herpesvirus infection C1963101 \| encephalopathy C1415618 \| hypomelanosis of ito C0796004 \| kabuki make-up syndrome C0751495 \| partial seizures C0580190 \| 3-phosphoglycerate dehydrogenase deficiency C0265449 \| pallister-killian syndrome C0175695 \| sotos syndrome C0040560 \| congenital toxoplasmosis C0037769 \| infantile spasms C0037763 \| spasms C0036572 \| seizures C0025517 \| metabolic diseases C0017668 \| focal glomerulosclerosis C0014544 \| epilepsy
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:8) C0036572 \| seizures \| 6 C0037763 \| spasms \| 4 C0085584 \| encephalopathy \| 2 C0431380 \| cortical dysplasia \| 2 C0037769 \| infantile spasms \| 2 C0014544 \| epilepsy \| 1 C0040560 \| congenital toxoplasmosis \| 1 C0342418 \| hypothalamic hamartoma \| 1

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
rs11872992	18461507	5443	POMC	umls:C0037769	BeFree	The rs11872992 polymorphism influences ACTH treatment responses in patients with infantile spasms.	0.123528744	2007	MC4R	18	60373354	G	A

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	428
Disease	west syndrome
Case	(Waiting for update.)

Web Analytics Made Easy - StatCounter