Klinische FragestellungSchlafstörungen, primär; Differentialdiagnose

NGS +

Besondere Schlafmuster ohne sonstige Syndrome [Differentialdiagnostik nur nach Rücksprache]

Group of disorders

Rare sleep disorder ORPHA:68354

Autoimmune encephalopathy with parasomnia and obstructive sleep apnea ORPHA:420789

AD cerebellar ataxia-deafness-narcolepsy syndrome ORPHA:314404

Familial advanced sleep-phase syndrome ORPHA:164736

Idiopathic hypersomnia ORPHA:33208

Kleine-Levin syndrome ORPHA:33543

Narcolepsy type 1 ORPHA:2073

Narcolepsy type 2 ORPHA:83465

Non-24-hour sleep-wake syndrome ORPHA:73267

• Allelic: Brachyolmia type 3 (TRPV4)
• Allelic: Cerebral amyloid angiopathy, PRNP-related (PRNP)
• Allelic: Creutzfeldt-Jakob disease (PRNP)
• Allelic: Digital arthropathy-brachydactyly, familial (TRPV4)
• Allelic: Gerstmann-Straussler disease (PRNP)
• Allelic: Hereditary motor + sensory neuropathy, type IIc (TRPV4)
• Allelic: Huntington disease-like 1 (PRNP)
• Allelic: Kuru, susceptibility to (PRNP)
• Allelic: Metatropic dysplasia (TRPV4)
• Allelic: Neuronopathy, distal hereditary motor, type VIII (TRPV4)
• Allelic: Neuropathy, hereditary sensory, type IE (DNMT1)
• Allelic: Prion disease with protracted course (PRNP)
• Allelic: Vulto-van Silfout-de Vries syndrome (DEAF1)
• Advance sleep phase syndrome, familial, 4 (TIMELESS)
• Advanced sleep phase [expert opinion] (PER2, PER3, CRY2, CSNK1D, TIMELESS)
• Advanced sleep phase syndrome, familial, 1 (PER2)
• Advanced sleep phase syndrome, familial, 2 (CSNK1D)
• Advanced sleep phase syndrome, familial, 3 (PER3)
• Allelic: Asthma, susceptibility to, 2 (NPSR1)
• Anxiety-related personality traits (SLC6A4)
• Cerebellar ataxia, deafness + narcolepsy, AD (DNMT1)
• Delayed sleep phase [expert opinion] (CRY1)
• Delayed sleep phase syndrome, susceptibility to (CRY1)
• Developmental + epileptic encephalopathy 58 (NTRK2)
• Familial natural short sleep [expert opinion] (ADRB1, BHLHE41, GRM1, NPSR1)
• Insomnia, fatal familial (PRNP)
• Mental retardation, AR, 37 (ANK3)
• Narcolepsy (EIF3G)
• Narcolepsy 1 (HCRT2)
• Narcolepsy 7 (MOG)
• Neurodevelopmental disorder with hypotonia, impaired expressive language with/-out seizures (DEAF1)
• Obesity, hyperphagia + developmental delay (AKR1C2, NTRK2)
• Obsessive-compulsive disorder (SLC6A4)
• Resting heart rate (ADRB1)
• Short sleep, familial natural, 1 (BHLHE41)
• Short sleep, familial natural, 2 (ADRB1)
• Spinocerebellar ataxia 44 (GRM1)
• Spinocerebellar ataxia, AR 13 (GRM1)