ErkrankungSchlafstörungen, sekundär; Differentialdiagnose

NGS +

[Sanger]

Während bei der Erkennung von genetisch bedingten Schlafstörungen bei Erwachsenen Fortschritte erzielt wurden, werden dieselben Störungen, von denen bis zu 30% gesunder Kinder betroffen sind, immer noch zu selten erkannt. Angeborene Stoffwechsel-Erkrankungen und nicht-metabolische genetische Syndrome manifestieren sich meist in der frühen Kindheit mit fortschreitenden neuromuskulären, skelettalen und/oder neurokognitiven Auffälligkeiten. Die betroffenen Kinder leiden häufig unter unzureichendem Schlaf, der mit ebenfalls beeinträchtigter Atmung einhergeht. Schlafbezogene Atmungsstörungen sind in der Allgemeinbevölkerung recht häufig. Dennoch werden Kinder und junge Erwachsene mit genetisch bedingten Leiden, die mit schlafbezogenen Atmungsstörungen einhergehen, nur selten auch molekulargenetisch untersucht. Insgesamt stellt sich die Genetik schlafbezogener Störungen als äußerst heterogen dar, und nur selten lassen sich monogene Ursachen eindeutig nachweisen.

Referenz: https://www.frontiersin.org/articles/10.3389/fneur.2014.00133/full

• Def.: secondary sleep disorders due to underlying medical conditions
• Alias: MECP2-related severe neonatal encephalopathy (MECP2)
• Allelic: Brachyolmia type 3 (TRPV4)
• Allelic: Chondrosarcoma (EXT1)
• Allelic: Digital arthropathy-brachydactyly, familial (TRPV4)
• Allelic: Hereditary motor + sensory neuropathy, type IIc (TRPV4)
• Allelic: Leukemia, juvenile myelomonocytic (NF1)
• Allelic: Metatropic dysplasia (TRPV4)
• Allelic: Neuronopathy, distal hereditary motor, type VIII (TRPV4)
• Allelic: Premature ovarian failure 1 (FMR1_CCG)
• Allelic: Retinitis pigmentosa 73 (HGSNAT)
• AD nocturnal frontal lobe epilepsy (CRH)
• ATP1A3-related neurologic disorders (ATP1A3)
• Achondroplasia (FGFR3)
• Acromicric dysplasia (FBN1)
• Alexander disease (GFAP)
• Alternating hemiplegia of childhood 2 (ATP1A3)
• Angelman syndrome (UBE3A)
• Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (FGFR2)
• Anxiety-related personality traits (SLC6A4)
• Apert syndrome (FGFR2)
• Aphasia, primary progressive (GRN)
• Aspartylglucosaminuria (AGA)
• Avascular necrosis of femoral head, primary, 2 (TRPV4)
• Bainbridge-Ropers syndrome (ASXL3)
• Beare-Stevenson cutis gyrata syndrome (FGFR2)
• Becker muscular dystrophy (DMD)
• Bent bone dysplasia syndrome (FGFR2)
• Bohring-Opitz syndrome (ASXL1)
• Brachyolmia type 3 (TRPV4)
• CAPOS syndrome (ATP1A3)
• CATSHL syndrome (FGFR3)
• CHARGE syndrome (CHD7, SEMA3E)
• Cardiomyopathy, dilated, 3B (DMD)
• Carpenter syndrome (RAB23)
• Central hypoventilation syndrome, congenital, 1, +/- Hirschsprung disease (PHOX2B)
• Ceroid lipofuscinosis, neuronal, 1 (PPT1)
• Ceroid lipofuscinosis, neuronal, 10 (CTSD)
• Ceroid lipofuscinosis, neuronal, 11 (GRN)
• Ceroid lipofuscinosis, neuronal, 13 (Kufs type), AD (CTSF)
• Ceroid lipofuscinosis, neuronal, 2 (TPP1)
• Ceroid lipofuscinosis, neuronal, 3 (CLN3)
• Ceroid lipofuscinosis, neuronal, 4A (Kufs type), AR (CLN6)
• Ceroid lipofuscinosis, neuronal, 4B (Kufs type), AD (DNAJC5)
• Ceroid lipofuscinosis, neuronal, 5 (CLN5)
• Ceroid lipofuscinosis, neuronal, 6 (CLN6)
• Ceroid lipofuscinosis, neuronal, 7 (MFSD8)
• Ceroid lipofuscinosis, neuronal, 8 (CLN8)
• Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant (CLN8)
• Charcot-Marie-Tooth disease, dominant intermediate D (MPZ)
• Charcot-Marie-Tooth disease, type 1A + 1E (PMP22)
• Charcot-Marie-Tooth disease, type 1B, 2I, 2J (MPZ)
• Charcot-Marie-Tooth neuropathy, XLD, 1 (GJB1)
• Congenital central hypoventilation syndrome (PHOX2B)
• Cornelia de Lange syndrome 1 (NIPBL)
• Cornelia de Lange syndrome 2 (SMC1A)
• Cornelia de Lange syndrome 3 (SMC3)
• Cornelia de Lange syndrome 4 (RAD21)
• Cornelia de Lange syndrome 5 (HDAC8)
• Craniofacial-skeletal-dermatologic dysplasia (FGFR2)
• Craniosynostosis 1 (TWIST1)
• Craniosynostosis, nonspecific (FGFR2)
• Crouzon syndrome (FGFR2)
• Crouzon syndrome with acanthosis nigricans (FGFR3)
• Dejerine-Sottas disease (MPZ, PMP22)
• Developmental + epileptic encephalopathy 14 (KCNT1)
• Developmental + epileptic encephalopathy 85 +/- midline brain defects (SMC1A)
• Developmental and epileptic encephalopathy 59 (GABBR2)
• Digital arthropathy-brachydactyly, familial (TRPV4)
• Duchenne muscular dystrophy (DMD)
• Dyskinesia, familial, with facial myokymia (ADCY5)
• Dystonia, dopa-responsive, due to sepiapterin reductase deficiency (SPR)
• Dystonia-12 (ATP1A3)
• Ectopia lentis, familial (FBN1)
• Encephalopathy, neonatal severe (MECP2)
• Epilepsy, familial focal, with variable foci 1 (DEPDC5)
• Epilepsy, nocturnal frontal lobe, 1 (CHRNA4)
• Epilepsy, nocturnal frontal lobe, 3 (CHRNB2)
• Epilepsy, nocturnal frontal lobe, 5 (KCNT1)
• Epilepsy, nocturnal frontal lobe, type 4 (CHRNA2)
• Epilepsy, progressive myoclonic 3, with/-out intracellular inclusions (KCTD7)
• Exostoses, multiple, type 1 [1 family] (EXT1)
• Exudative vitreoretinopathy 2, XL (NDP)
• Fragile X syndrome (FMR1_CCG)
• Fragile X tremor/ataxia syndrome (FMR1_CCG)
• Friedreich ataxia (FXN_GAA, FXN)
• Friedreich ataxia with retained reflexes (FXN)
• Frontotemporal lobar degeneration with ubiquitin-positive inclusions (GRN)
• Geleophysic dysplasia 2 (FBN1)
• Glycogen storage disease II (GAA)
• Hartsfield syndrome (FGFR1)
• Hereditary motor + sensory neuropathy, type IIc (TRPV4)
• Hirschsprung disease, susceptibility to, 3 (GDNF)
• Hypochondroplasia (FGFR3)
• Hypogonadotropic hypogonadism 2 +/- anosmia (FGFR1)
• Hypogonadotropic hypogonadism 5 with or without anosmia (CHD7)
• Hypomyelinating neuropathy, congenital, 2 (MPZ)
• Jackson-Weiss syndrome (FGFR1)
• Jackson-Weiss syndrome (FGFR2)
• Kleefstra syndrome 1 (EHMT1)
• Koolen-De Vries syndrome (KANSL1)
• LADD syndrome (FGFR2, FGFR3)
• Leukodystrophy, hypomyelinating, 11 (POLR1C)
• Lymphangioleiomyomatosis (TSC1)
• MASS syndrome (FBN1)
• Macular dystrophy with central cone involvement (MFSD8)
• Marfan lipodystrophy syndrome (FBN1)
• Marfan syndrome (FBN1)
• Medullary thyroid carcinoma (RET)
• Mental retardation, AD 1 (MBD5)
• Mental retardation, AD 46 (KCNQ5)
• Mental retardation, AD 52 (ASH1L)
• Mental retardation, AR 65 (KDM5B)
• Mental retardation, AR, 37 (ANK3)
• Mental retardation, XL syndromic, Lubs type (MECP2)
• Mental retardation, XL, syndromic 13 (MECP2)
• Metatropic dysplasia (TRPV4)
• Mucopolysaccharidosis II (IDS)
• Mucopolysaccharidosis IVA (GALNS)
• Mucopolysaccharidosis Ih, Ih/s, Is (IDUA)
• Mucopolysaccharidosis type IIIA [Sanfilippo A] (SGSH)
• Mucopolysaccharidosis type IIIB [Sanfilippo B] (NAGLU)
• Mucopolysaccharidosis type IIIC [Sanfilippo C] (HGSNAT)
• Mucopolysaccharidosis type IIID (GNS)
• Muenke syndrome (FGFR3)
• Multiple congenital anomalies-hypotonia-seizures syndrome 2 (PIGA)
• Multiple endocrine neoplasia IIA + IIB (RET)
• Multiple sufatase deficiency (SUMF1)
• Mungan syndrome (RAD21)
• Myotonic dystrophy 1 (DMPK)
• Myotonic dystrophy 2 (CNBP)
• Neuroblastoma with Hirschsprung disease (PHOX2B)
• Neurodevelopmental disorder with hypotonia, impaired expressive language +/- seizures (DEAF1)
• Neurodevelopmental disorder with hypotonia, variable intellectual, behavioral abnormalities (POLR2A)
• Neurodevelopmental disorder with poor language + loss of hand skills (GABBR2)
• Neurofibromatosis, familial spinal (NF1)
• Neurofibromatosis, type 1 (NF1)
• Neurofibromatosis, type 2 (NF2)
• Neurofibromatosis-Noonan syndrome (NF1)
• Neuronopathy, distal hereditary motor, type VIII (TRPV4)
• Neuropathy, inflammatory demyelinating (PMP22)
• Neuropathy, recurrent, with pressure palsies (PMP22)
• Niemann-Pick disease, type C1 + D (NPC1)
• Niemann-Pick disease, type C2 (NPC2)
• Norrie disease (NDP)
• Obsessive-compulsive disorder (SLC6A4)
• Osteoglophonic dysplasia (FGFR1)
• Parastremmatic dwarfism (TRPV4)
• Pfeiffer syndrome (FGFR1, FGFR2)
• Pfeiffer syndrome (FGFR2)
• Phelan-McDermid syndrome SHANK3)
• Pheochromocytoma (RET)
• Pitt-Hopkins syndrome (TCF4)
• Pontocerebellar hypoplasia type 2D (SEPSECS)
• Prader-Willi syndrome (NDN, SNRPN)
• Pycnodysostosis (CTSK)
• Pycnodysostosis, Toulouse-Lautrec Syndrome (CTSK)
• Rett syndrome (MECP2)
• Rett syndrome, atypical (MECP2)
• Rett syndrome, preserved speech variant (MECP2)
• Ritscher-Schinzel syndrome (CCDC22)
• Ritscher-Schinzel syndrome (WASHC5)
• Robinow-Sorauf syndrome (TWIST1)
• Roussy-Levy syndrome (MPZ, PMP22)
• SADDAN (FGFR3)
• SED, Maroteaux type (TRPV4)
• Saethre-Chotzen syndrome (FGFR2)
• Saethre-Chotzen syndrome (TWIST1)
• Saethre-Chotzen syndrome +/- eyelid anomalies (TWIST1)
• Scaphocephaly + Axenfeld-Rieger anomaly (FGFR2)
• Scaphocephaly, maxillary retrusion + mental retardation (FGFR2)
• Scapuloperoneal spinal muscular atrophy (TRPV4)
• Schaaf-Yang syndrome (MAGEL2)
• Schizophrenia 15 (SHANK3)
• Segawa syndrome, AR (TH)
• Simpson-Golabi-Behmel syndrome, type 1 (GPC3, GPC4)
• Simpson-Golabi-Behmel syndrome, type 2 (OFD1)
• Smith-Lemli-Opitz syndrome (DHCR7)
• Smith-Magenis syndrome (RAI1)
• Spastic paraplegia 8, AD (WASHC5)
• Spinal muscular atrophy 1-4 (SMN1)
• Spinocerebellar ataxia, AR 7 (TPP1)
• Spondylometaphyseal dysplasia, Kozlowski type (TRPV4)
• Squalene synthase deficiency (FDFT1)
• Stiff skin syndrome (FBN1)
• Sweeney-Cox syndrom (TWIST1)
• Syndromic/ nonsyndromic intellectual disability (MECP2)
• TARP [talipes equinovarus, atrial septal def., Robin s., pers. left sup. vena cava] syndrome (RBM19)
• Thanatophoric dysplasia, type I + II (FGFR3)
• Treacher Collins syndrome 1 (TCOF1)
• Treacher Collins syndrome 2 (POLR1D)
• Treacher Collins syndrome 3 (POLR1C)
• Trigonocephaly 1 (FGFR1)
• Tuberous sclerosis-1 (TSC1)
• Tuberous sclerosis-2 (TSC2)
• Vulto-van Silfout-de Vries syndrome (DEAF1)
• Waardenburg syndrome, type 4B (EDN3)
• Watson syndrome (NF1)
• Weill-Marchesani syndrome 2, AD (FBN1)
• Wilson disease (ATP7B)
• ataxia syndrome (FMR1_CCG)