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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
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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)
..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)
..expandDysmyelination With Jaundice (C565610)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 (OMIM:613721)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 (OMIM:613722)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 (OMIM:613477)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 (OMIM:613720)
..expandHyper-Beta-Alaninemia (C562684)
..expandHyperleucine-Isoleucinemia (C562674)
..expandHyperphosphatemia, Polyuria, and Seizures (C565494)
..expandHypoparathyroidism-retardation-dysmorphism syndrome (C537157)
..expandHypotonia, Seizures, And Precocious Puberty (C567566)
..expandInfantile convulsions and paroxysmal choreoathetosis, familial (C535522)
..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, SEIZURES, AND DEVELOPMENTAL DELAY (OMIM:613402)
..expandMuller Barth Menger syndrome (C537370)
..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)
..expandSeSAME syndrome (C557674)
..expandTranebjaerg Svejgaard syndrome (C536978)
..expandWarman Mulliken Hayward syndrome (C536684)
..expandX-linked mental retardation Gustavson type (C536759)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:5774
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 |C10.228.140.490.631/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;

Genes: PRRT2;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000739Anxiety
3 HP:0002072Choreahallmark
4 HP:0002353EEG abnormalityhallmark
5 HP:0040168Focal seizures, afebril
6 HP:0002197Generalized seizures
7 HP:0002311Incoordinationtypical
8 HP:0002076Migrainetypical
9 HP:0002372Normal interictal EEG
10 HP:0007098Paroxysmal choreoathetosis
11 HP:0002268Paroxysmal dystonia
12 HP:0001250Seizureshallmark
13 HP:0000733Stereotypic behavioroccasional
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_145239.2(PRRT2):c.487C>T (p.Gln163Ter)112476PRRT2Pathogenic387907127RCV000024174; RCV000024175; RCV000188764; NGeneReviews:NBK1460,MedGen:C1868682,OMIM:128200, Orphanet:ORPHA98809; MedGen:C1865926,OMIM:602066, Orphanet:ORPHA31709; MedGen:CN221809162982486229824862NM_145239.2:c.487C>TNP_660282.2:p.Gln163TerNC_000016.9:g.29824862C>TOMIM Allelic Variant:614386.0009C1868682 128200 Dystonia 10; C1865926 602066 Infantile convulsions and paroxysmal choreoathetosis, familial; CN221809 not provided
NM_145239.2(PRRT2):c.516dupT (p.Glu173Terfs)112476PRRT2Pathogenic730882068RCV000024173; NMedGen:C1865926,OMIM:602066, Orphanet:ORPHA31709162982489129824891NM_145239.2:c.516dupTNP_660282.2:p.Glu173TerfsNC_000016.9:g.29824891dupTOMIM Allelic Variant:614386.0008C1865926 602066 Infantile convulsions and paroxysmal choreoathetosis, familial
NM_145239.2(PRRT2):c.562C>T (p.Gln188Ter)112476PRRT2Pathogenic397514578RCV000032971; NMedGen:C1865926,OMIM:602066, Orphanet:ORPHA31709162982493729824937NM_145239.2:c.562C>TNP_660282.2:p.Gln188TerNC_000016.9:g.29824937C>TOMIM Allelic Variant:614386.0012C1865926 602066 Infantile convulsions and paroxysmal choreoathetosis, familial
NM_145239.2(PRRT2):c.629dupC (p.Ala211Serfs)112476PRRT2Pathogenic730882067RCV000024169; RCV000188767; NMedGen:C1865926,OMIM:602066, Orphanet:ORPHA31709; MedGen:CN221809162982500429825004NM_145239.2:c.629dupCNP_660282.2:p.Ala211SerfsNC_000016.9:g.29825004dupCOMIM Allelic Variant:614386.0004C1865926 602066 Infantile convulsions and paroxysmal choreoathetosis, familial; CN221809 not provided
NM_145239.2(PRRT2):c.649dupC (p.Arg217Profs)112476PRRT2Pathogenic587778771RCV000055991; RCV000153783; RCV000188779; RCV000193894; NGeneReviews:NBK1460,MedGen:C1868682,OMIM:128200, Orphanet:ORPHA98809; MedGen:C1865926,OMIM:602066, Orphanet:ORPHA31709; MedGen:CN221809; MedGen:CN233049162982502429825024NM_145239.2:c.649dupCNP_660282.2:p.Arg217ProfsNC_000016.9:g.29825024dupC-C1868682 128200 Dystonia 10; CN233049 HP:0001250; C1865926 602066 Infantile convulsions and paroxysmal choreoathetosis, familial; CN221809 not provided
NM_145239.2(PRRT2):c.718C>T (p.Arg240Ter)112476PRRT2Pathogenic387907126RCV000024172; NMedGen:C1865926,OMIM:602066, Orphanet:ORPHA31709162982509329825093NM_145239.2:c.718C>TNP_660282.2:p.Arg240TerNC_000016.9:g.29825093C>TOMIM Allelic Variant:614386.0007C1865926 602066 Infantile convulsions and paroxysmal choreoathetosis, familial
NM_145239.2(PRRT2):c.950G>A (p.Ser317Asn)112476PRRT2Pathogenic387907125RCV000024170; NMedGen:C1865926,OMIM:602066, Orphanet:ORPHA31709162982572429825724NM_145239.2:c.950G>ANP_660282.2:p.Ser317AsnNC_000016.9:g.29825724G>AOMIM Allelic Variant:614386.0005C1865926 602066 Infantile convulsions and paroxysmal choreoathetosis, familial