English
ErkrankungHyperekplexie, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Hyperekplexie mit 1 Leitlinien-kuratierten, 5 weiteren "core candidates" bzw. insgesamt 17 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
HP7685
Anzahl Gene
6
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
5,3 kb (Core-/Basis-Gene)
10,3 kb (Erweitertes Panel)
10,3 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Infos zur Erkrankung
Klinischer Kommentar
Neurologische Störung, die durch übermäßige Schreckreaktionen gekennzeichnet ist
Synonyme
- Alias: Congenital stiff man syndrome
- Alias: Hyperekplexia-epilepsy syndrome
- Alias: Kok disease
- Alias: Startle disease/reaction
- Alias: Startle reaction exaggerated
- Alias: Stiff baby/man/person syndrome
- Allelic: Cerebral amyloid angiopathy, PRNP-related (PRNP)
- Allelic: Exudative vitreoretinopathy 7 (CTNNB1)
- Allelic: Kuru, susceptibility to (PRNP)
- Allelic: Neutropenia, severe congenital, 9, AD (CLPB)
- 3-methylglutaconic aciduria, type VIIA, AD (CLPB)
- 3-methylglutaconic aciduria, type VIIB, AR (CLPB)
- Asparagine synthetase deficiency (ASNS)
- Coffin-Lowry syndrome XLD (RPS6KA3)
- Cognitive impairment with/-out cerebellar ataxia (SCN8A)
- Cold-induced sweating syndrome 1 (CRLF1)
- Convulsions, familial infantile, with paroxysmal choreoathetosis (PRRT2)
- Creutzfeldt-Jakob disease (PRNP)
- Developmental + epileptic encephalopathy 13 (SCN8A)
- Developmental + epileptic encephalopathy 42 (CACNA1A)
- Developmental + epileptic encephalopathy 68 (TRAK1)
- Epileptic encephalopathy, early infantile, 8 (ARHGEF9)
- Episodic ataxia, type 2 (CACNA1A)
- Episodic kinesigenic dyskinesia 1 (PRRT2)
- GM2-gangliosidosis, several forms (HEXA)
- Gerstmann-Straussler disease (PRNP)
- Glycine encephalopathy with normal serum glycine (SLC6A9)
- Hex A pseudodeficiency (HEXA)
- Huntington disease-like 1 (PRNP)
- Hyperekplexia 1 (GLRA1)
- Hyperekplexia 2 (GLRB)
- Hyperekplexia 3 (SLC6A5)
- Hyperekplexia 4 (ATAD1)
- Insomnia, fatal familial (PRNP)
- Intellectual developmental disorder, XL 19 (RPS6KA3)
- Migraine, familial hemiplegic, 1 (CACNA1A)
- Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia (CACNA1A)
- Molybdenum cofactor deficiency C (GPHN)
- Myoclonus, familial, 2 (SCN8A)
- Neurodevelopmental disorder with spastic diplegia + visual defects (CTNNB1)
- Pontocerebellar hypoplasia type 2A (TSEN54)
- Pontocerebellar hypoplasia type 4 (TSEN54)
- Pontocerebellar hypoplasia type 5 (TSEN54)
- Seizures, benign familial infantile, 2 (PRRT2)
- Seizures, benign familial infantile, 5 (SCN8A)
- Spinocerebellar ataxia 6 (CACNA1A)
- Spongiform encephalopathy with neuropsychiatric features (PRNP)
- Sulfite oxidase deficiency (SUOX)
- Tay-Sachs disease (HEXA)
Erbgänge, Vererbungsmuster etc.
- AD und/oder AR
- AR
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
R29.2
Bioinformatik und klinische Interpretation
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