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Disease Browser
Parent Node:
expandEpilepsy (D004827)
..Starting node
..expandAmish Infantile Epilepsy Syndrome (C563799)

       Child Nodes:



 Sister Nodes: 
..expandAICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency (C563876)
..expandAlopecia epilepsy oligophrenia syndrome of Moynahan (C537052)
..expandAlopecia, epilepsy, pyorrhea, mental subnormality (C537057)
..expandAmish Infantile Epilepsy Syndrome (C563799)
..expandArthrogryposis epileptic seizures migrational brain disorder (C537442)
..expandBattaglia Neri syndrome (C537662)
..expandBETA-AMINO ACIDS, RENAL TRANSPORT OF (OMIM:109660)
..expandBorjeson-Forssman-Lehmann syndrome (C536575)
..expandBoudhina Yedes Khiari syndrome (C537939)
..expandCHROMOSOME 7q11.23 DELETION SYNDROME, DISTAL, 1.2-MB (OMIM:613729)
..expandCoffin syndrome 1 (C536435)
..expandDevelopmental Delay, Epilepsy, and Neonatal Diabetes (C565253)
..expandEpilepsies, Myoclonic (D004831) Child26
..expandEpilepsies, Partial (D004828) Child26
..expandEpilepsy occipital calcifications (C535496)
..expandEpilepsy telangiectasia (C535497)
..expandEpilepsy, Benign Neonatal (D020936) Child13
..expandEpilepsy, Benign Neonatal, 1, And/Or Myokymia (C567743)
..expandEpilepsy, Female-Restricted, with Mental Retardation (C564715)
..expandEpilepsy, Generalized (D004829) Child27
..expandEPILEPSY, HOT WATER, 1 (OMIM:613339)
..expandEPILEPSY, HOT WATER, 2 (OMIM:613340)
..expandEpilepsy, Photogenic, with Spastic Diplegia and Mental Retardation (C565587)
..expandEpilepsy, Post-Traumatic (D004834)
..expandEpilepsy, Reflex (D020195)
..expandEpilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders (C564505)
..expandFryns-Aftimos Syndrome (C565258)
..expandGurrieri Sammito Bellussi syndrome (C537625)
..expandHETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT (OMIM:300049)
..expandHyperekplexia and Epilepsy (C564474)
..expandKifafa seizure disorder (C537708)
..expandKohlschutter Tonz syndrome (C537213)
..expandKuzniecky syndrome (C538091)
..expandLandau-Kleffner Syndrome (D018887)
..expandLennox Gastaut Syndrome (D065768) Child1
..expandMEHMO syndrome (C537451)
..expandMENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
..expandMental Retardation, Microcephaly, Epilepsy, And Coarse Face (C563342)
..expandMental Retardation, X-Linked, Syndromic, Christianson Type (C567484)
..expandMental Retardation, X-Linked, with Epilepsy (C564516)
..expandPolyhydramnios, Megalencephaly, And Symptomatic Epilepsy (C567020)
..expandPyridoxine-dependent epilepsy (C536254)
..expandRamon Syndrome (C535285)
..expandRetinal Degeneration and Epilepsy (C564847)
..expandRud Syndrome (C535878)
..expandSandhaus Ben-Ami syndrome (C537233)
..expandSeizures (D012640) Child40
..expandSeizures, Febrile (D003294) Child21
..expandSpinocerebellar Ataxia with Epilepsy (C564395)
..expandStatus Epilepticus (D013226) Child1
..expandWittwer syndrome (C536737)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:552
Name:Amish Infantile Epilepsy Syndrome
Definition:
Alternative IDs:OMIM:609056
ParentIDs:MESH:D004827
TreeNumbers:C10.228.140.490/C563799
Synonyms:Epilepsy Syndrome, Infantile-Onset Symptomatic |GM3 Synthase Deficiency |SALT AND PEPPER MENTAL RETARDATION SYNDROME
Slim Mappings:Nervous system disease
Reference: MedGen: C563799
MeSH: C563799
OMIM: 609056;

Genes: ST3GAL5;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0006834Developmental stagnation at onset of seizures
3 HP:0001344Absent speech
4 HP:0002069Bilateral tonic-clonic seizure
5 HP:0100704Cerebral visual impairment
6 HP:0001266Choreoathetosis
7 HP:0002376Developmental regression
8 HP:0001508Failure to thrive
9 HP:0008872Feeding difficulties in infancy
10 HP:0001290Generalized hypotonia
11 HP:0002283Global brain atrophy
12 HP:0001263Global developmental delay
13 HP:0000365Hearing impairmentHP:0040283
14 HP:0001034Hypermelanotic macule
15 HP:0012391Hyporeflexia of upper limbs
16 HP:0001252Hypotonia
17 HP:0000737Irritability
18 HP:0002395Lower limb hyperreflexia
19 HP:0000252MicrocephalyHP:0040283
20 HP:0001336Myoclonus
21 HP:0000648Optic atrophy
22 HP:0002133Status epilepticus
23 HP:0000572Visual loss
24 HP:0002013Vomiting
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_003896.3(ST3GAL5):c.1063G>A (p.Glu355Lys)8869ST3GAL5Pathogenic534438354RCV000128792; NMedGen:C1836824,OMIM:609056,ORPHA:17171428606746186067461NM_003896.3:c.1063G>ANP_003887.3:p.Glu355LysNC_000002.11:g.86067461C>TOMIM Allelic Variant:604402.0002C1836824 609056 Amish infantile epilepsy syndrome
NM_003896.3(ST3GAL5):c.862C>T (p.Arg288Ter)8869ST3GAL5Pathogenic104893668RCV000005895; NMedGen:C1836824,OMIM:609056,ORPHA:17171428607166586071665NM_003896.3:c.862C>TNP_003887.3:p.Arg288TerNC_000002.11:g.86071665G>AOMIM Allelic Variant:604402.0001C1836824 609056 Amish infantile epilepsy syndrome