MSeqDR Mitochondrial Disease Portal


 
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Dyskinesias (D020820)
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Epilepsy, Benign Neonatal (D020936)
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Seizures (D012640)
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Infantile convulsions and paroxysmal choreoathetosis, familial (C535522)

       Child Nodes:



 Sister Nodes: 
..expandAdams Nance syndrome (C538224)
..expandAlcohol Withdrawal Seizures (D020270)
..expandAlopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism (C563370)
..expandARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES (OMIM:615553)
..expandBaraitser Rodeck Garner syndrome (C537906)
..expandCerebroretinal Microangiopathy with Calcifications and Cysts (C567401)
..expandChromosome 15q13.3 Microdeletion Syndrome (C567439)
..expandConvulsive Disorder, Familial, with Prenatal or Early Onset (C565678)
..expandCopper deficiency, familial benign (C535468)
..expandCryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly (C563840)
..expandDYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617171)
..expandDysmyelination With Jaundice (C565610)
..expandGlycosylphosphatidylinositol deficiency (C537277)
..expandHyper-Beta-Alaninemia (C562684)
..expandHYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES (OMIM:614462)  LSDB  L: 00479;
..expandHyperleucine-Isoleucinemia (C562674)
..expandHYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY (OMIM:614300)
..expandHyperphosphatemia, Polyuria, and Seizures (C565494)
..expandHYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION (OMIM:616418)
..expandHypoparathyroidism-retardation-dysmorphism syndrome (C537157)
..expandHypotonia, Seizures, And Precocious Puberty (C567566)
..expandInfantile convulsions and paroxysmal choreoathetosis, familial (C535522)
..expandMENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES (OMIM:613970)
..expandMental retardation, keratoconus, febrile seizures, and sinoatrial block (C537452)
..expandMental retardation, X-linked, syndromic 5 (C535773)
..expandMethionine Malabsorption Syndrome (C562682)
..expandMicrocephaly seizures genital hypoplasia (C537540)
..expandMicrocephaly seizures mental retardation heart disorders (C537544)
..expandMicrocephaly sparse hair mental retardation seizures (C537545)
..expandMICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)
..expandMICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY (OMIM:615760)
..expandMICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY (OMIM:613402)
..expandMICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES (OMIM:614833)
..expandMuller Barth Menger syndrome (C537370)
..expandMULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
..expandMULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
..expandMULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
..expandNEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE (OMIM:617268)
..expandOPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES (OMIM:616732)
..expandPACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS (OMIM:600176)
..expandPartington X-linked mental retardation syndrome (C536300)
..expandPerniola Krajewska Carnevale syndrome (C536660)
..expandPhosphoglycerate Dehydrogenase Deficiency (C566618)
..expandPhosphoserine Aminotransferase Deficiency (C567032)
..expandPyridoxamine 5-Prime-Phosphate Oxidase Deficiency (C566449)
..expandQazi Markouizos syndrome (C536259)
..expandSEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME (OMIM:616632)
..expandSeizures, Febrile (D003294) Child21
..expandSeSAME syndrome (C557674)
..expandStatus Epilepticus (D013226) Child1
..expandTranebjaerg Svejgaard syndrome (C536978)
..expandWHITE-SUTTON SYNDROME (OMIM:616364)
..expandX-linked mental retardation Gustavson type (C536759)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:6337
Name:Infantile convulsions and paroxysmal choreoathetosis, familial
Definition:
Alternative IDs:OMIM:602066
ParentIDs:MESH:D012640|MESH:D020820|MESH:D020936
TreeNumbers:C10.228.140.490.370/C535522 |C10.228.662.262/C535522 |C10.597.350/C535522 |C10.597.742/C535522 |C16.614.258/C535522 |C23.888.592.350/C535522 |C23.888.592.742/C535522
Synonyms:CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS |Convulsions, infantile, with paroxysmal choreoathetosis, familial |ICCA |ICCA SYNDROME |INFANTILE CONVULSIONS AND PAROXYSMAL CHOREOATHETOSIS, FAMILIAL |PAROXYSMAL KINESIGENIC DYSKINESIA WITH IN
Slim Mappings:Infant-newborn disease|Nervous system disease|Signs and symptoms
Reference: MedGen: C535522
MeSH: C535522
OMIM: 602066;
MSeqDR LSDB:  
Genes: PRRT2;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000739Anxiety
NAMDC:  Anxiety
3 HP:0007359Focal seizures
4 HP:0040168Focal seizures, afebril
5 HP:0002197Generalized seizures
6 HP:0002372Normal interictal EEG
7 HP:0007098Paroxysmal choreoathetosis
8 HP:0002268Paroxysmal dystonia
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_145239.3(PRRT2):c.304del (p.Glu102fs)112476PRRT2Likely pathogenicrs1567379016RCV000768058; NMONDO:MONDO:0011593,MedGen:C1853995,OMIM:605751, Orphanet:306; MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809; MONDO:MONDO:0011178,MedGen:C1865926,OMIM:602066, Orphanet:31709162982467929824679CGCNC_000016.9:g.29824679del-
NM_145239.3(PRRT2):c.364C>T (p.Gln122Ter)112476PRRT2Likely pathogenic-1RCV002086748; NMONDO:MONDO:0011178,MedGen:C1865926,OMIM:602066, Orphanet:31709162982473929824739CT29824739-
NM_145239.3(PRRT2):c.434G>A (p.Arg145Gln)112476PRRT2Uncertain significancers200877676RCV000688995|RCV000765285; NMONDO:MONDO:0044202,MedGen:C1868682,OMIM:PS128200, Orphanet:98809|MONDO:MONDO:0011593,MedGen:C1853995,OMIM:605751, Orphanet:306; MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809; MONDO:MONDO:0011178,MedGen:C1865926,OMIM:602066, Orphanet:31709162982480929824809GANC_000016.9:g.29824809G>A-C1868682 128200 Dystonia 10;
NM_145239.3(PRRT2):c.436C>A (p.Pro146Thr)112476PRRT2Uncertain significance-1RCV001839305|RCV002034711; NMONDO:MONDO:0011593,MedGen:C1853995,OMIM:605751, Orphanet:306; MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809; MONDO:MONDO:0011178,MedGen:C1865926,OMIM:602066, Orphanet:31709|MONDO:MONDO:0044202,MedGen:C1868682,OMIM:PS128200, Orphanet:98809162982481129824811CA29824811-
NM_145239.3(PRRT2):c.487C>T (p.Gln163Ter)112476PRRT2Pathogenicrs387907127RCV000024174|RCV000024175; NMONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809|MONDO:MONDO:0011178,MedGen:C1865926,OMIM:602066, Orphanet:31709162982486229824862CT16:g.29824862C>TClinGen:CA129730,OMIM:614386.0009C1868682 128200 Dystonia 10;
NM_145239.3(PRRT2):c.516dup (p.Glu173Ter)112476PRRT2Pathogenicrs730882068RCV000024173|RCV001386018; NMONDO:MONDO:0011178,MedGen:C1865926,OMIM:602066, Orphanet:31709|MONDO:MONDO:0044202,MedGen:C1868682,OMIM:PS128200, Orphanet:98809162982489029824891CCTNC_000016.9:g.29824891dupClinGen:CA129729,OMIM:614386.0008C1865926 602066 Infantile convulsions and paroxysmal choreoathetosis, familial;
NM_145239.3(PRRT2):c.524T>C (p.Val175Ala)112476PRRT2Uncertain significancers1162557576RCV001198439; NMONDO:MONDO:0011178,MedGen:C1865926,OMIM:602066, Orphanet:31709162982489929824899TC16:g.29824899T>C-
NM_145239.3(PRRT2):c.562C>T (p.Gln188Ter)112476PRRT2Pathogenicrs397514578RCV000032971; NMONDO:MONDO:0011178,MedGen:C1865926,OMIM:602066, Orphanet:31709162982493729824937CT16:g.29824937C>TClinGen:CA130518,OMIM:614386.0012C1865926 602066 Infantile convulsions and paroxysmal choreoathetosis, familial;
NM_145239.3(PRRT2):c.629dup (p.Ala211fs)112476PRRT2Pathogenicrs730882067RCV000024169|RCV000188767|RCV000644950; NMONDO:MONDO:0011178,MedGen:C1865926,OMIM:602066, Orphanet:31709|MedGen:CN517202|MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809162982499729824998TTCNC_000016.9:g.29825004dupClinGen:CA129725,OMIM:614386.0004C1868682 128200 Dystonia 10;
NM_145239.3(PRRT2):c.635A>G (p.Asn212Ser)112476PRRT2Uncertain significancers779020826RCV000468258|RCV000765286; NMONDO:MONDO:0044202,MedGen:C1868682,OMIM:PS128200, Orphanet:98809|MONDO:MONDO:0011593,MedGen:C1853995,OMIM:605751, Orphanet:306; MONDO:MONDO:0011178,MedGen:C1865926,OMIM:602066, Orphanet:31709; MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809162982501029825010AGNC_000016.9:g.29825010A>GClinGen:CA7994559C1868682 128200 Dystonia 10;
NM_145239.3(PRRT2):c.647C>G (p.Pro216Arg)112476PRRT2Conflicting interpretations of pathogenicityrs76335820RCV000055990|RCV000791448|RCV001332952|RCV001719806; NMONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809|MONDO:MONDO:0044202,MedGen:C1868682,OMIM:PS128200, Orphanet:98809|MONDO:MONDO:0011178,MedGen:C1865926,OMIM:602066, Orphanet:31709|MedGen:CN517202162982502229825022CGNC_000016.9:g.29825022C>GClinGen:CA317033C1868682 128200 Dystonia 10;
NM_145239.3(PRRT2):c.649C>T (p.Arg217Ter)112476PRRT2Pathogenicrs77838305RCV000554439|RCV001545693|RCV001332953; NMONDO:MONDO:0044202,MedGen:C1868682,OMIM:PS128200, Orphanet:98809|MedGen:CN517202|MONDO:MONDO:0011178,MedGen:C1865926,OMIM:602066, Orphanet:31709162982502429825024CT16:g.29825024C>TClinGen:CA395479169C1868682 128200 Dystonia 10;
NM_145239.3(PRRT2):c.718C>T (p.Arg240Ter)112476PRRT2Pathogenicrs387907126RCV000024172|RCV000431690|RCV000817890; NMONDO:MONDO:0011178,MedGen:C1865926,OMIM:602066, Orphanet:31709|MedGen:CN517202|MONDO:MONDO:0044202,MedGen:C1868682,OMIM:PS128200, Orphanet:98809162982509329825093CTNC_000016.9:g.29825093C>TOMIM:614386.0007,ClinGen:CA129727C1865926 602066 Infantile convulsions and paroxysmal choreoathetosis, familial;
NM_145239.3(PRRT2):c.751T>C (p.Leu251=)112476PRRT2Benignrs11150573RCV000153784|RCV001510040|RCV001789222|RCV001789223|RCV001789224; NMedGen:CN169374|MONDO:MONDO:0044202,MedGen:C1868682,OMIM:PS128200, Orphanet:98809|MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809|MONDO:MONDO:0011178,MedGen:C1865926,OMIM:602066, Orphanet:31709|MONDO:MONDO:0011593,MedGen:C1853995,OMIM:60575162982512629825126TC16:g.29825126T>CClinGen:CA180354CN169374 not specified;
NM_145239.3(PRRT2):c.773G>A (p.Gly258Glu)112476PRRT2Benign/Likely benignrs560303559RCV000368601|RCV000463630|RCV001249313|RCV001711857; NMedGen:CN169374|MONDO:MONDO:0044202,MedGen:C1868682,OMIM:PS128200, Orphanet:98809|MONDO:MONDO:0011593,MedGen:C1853995,OMIM:605751, Orphanet:306; MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809; MONDO:MONDO:0011178,MedGen:C1865926,OMIM:602066,162982514829825148GA16:g.29825148G>AClinGen:CA7994585C1868682 128200 Dystonia 10;
NM_145239.3(PRRT2):c.793C>A (p.Pro265Thr)112476PRRT2Uncertain significancers1900112848RCV001253623; NMONDO:MONDO:0011178,MedGen:C1865926,OMIM:602066, Orphanet:31709162982516829825168CA16:g.29825168C>A-
NM_145239.3(PRRT2):c.799del (p.Asp267fs)112476PRRT2Pathogenicrs1567380076RCV000761542; NMONDO:MONDO:0011178,MedGen:C1865926,OMIM:602066, Orphanet:31709162982517229825172CGCNC_000016.9:g.29825174del-
NM_145239.3(PRRT2):c.880-34G>A112476PRRT2Conflicting interpretations of pathogenicityrs1239450803RCV001200407|RCV001309110|RCV002051919; NMedGen:CN517202|MONDO:MONDO:0044202,MedGen:C1868682,OMIM:PS128200, Orphanet:98809|MONDO:MONDO:0011178,MedGen:C1865926,OMIM:602066, Orphanet:31709162982562029825620GA16:g.29825620G>A-
NM_145239.3(PRRT2):c.910G>A (p.Asp304Asn)112476PRRT2Uncertain significancers1900136723RCV001199300; NMONDO:MONDO:0011178,MedGen:C1865926,OMIM:602066, Orphanet:31709162982568429825684GA16:g.29825684G>A-
NM_145239.3(PRRT2):c.950G>A (p.Ser317Asn)112476PRRT2Pathogenicrs387907125RCV000024170|RCV001067788; NMONDO:MONDO:0011178,MedGen:C1865926,OMIM:602066, Orphanet:31709|MONDO:MONDO:0044202,MedGen:C1868682,OMIM:PS128200, Orphanet:98809162982572429825724GA16:g.29825724G>AClinGen:CA129726,UniProtKB:Q7Z6L0#VAR_067327,OMIM:614386.0005C1865926 602066 Infantile convulsions and paroxysmal choreoathetosis, familial;
NM_145239.3(PRRT2):c.986T>A (p.Ile329Asn)112476PRRT2Uncertain significancers1900143158RCV001253390; NMONDO:MONDO:0011178,MedGen:C1865926,OMIM:602066, Orphanet:31709162982576029825760TA16:g.29825760T>A-
NM_145239.3(PRRT2):c.988G>A (p.Ala330Thr)112476PRRT2Uncertain significancers757132796RCV001197119|RCV001371068; NMONDO:MONDO:0011178,MedGen:C1865926,OMIM:602066, Orphanet:31709|MONDO:MONDO:0044202,MedGen:C1868682,OMIM:PS128200, Orphanet:98809162982576229825762GA16:g.29825762G>A-
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