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ErkrankungSchlafstörungen, sekundär; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Schlafstörungen, sekundär, mit zusammen genommen 105 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
SP8976
Anzahl Gene
105 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
0,0 kb (Core-/Basis-Gene)
266,8 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

[Sanger]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
ADCY53786AD und/oder AR
AGA1041AR
ANK33006AR
ASCL1711AD
ASH1L8895AD
ASXL14626AD und/oder SMu
ASXL36747AD
ATP1A33042AD
ATP7B4398AR
CCDC221884XLR
CHD78994AD und/oder Impr
CHRNA21590AD
CHRNA41884AD
CHRNB21509AD
CLN31317AR
CLN51077AR
CLN6936AR
CLN8861AR
CNBP534AD
CRH591Mult und/oder SMu
CTSD1239AR
CTSF1455AR
CTSK990AR
DEAF11698AD und/oder AR
DEPDC54812AD
DHCR71428AR
DMD11058XLR
DMPK1920AD
DNAJC5597AD
EDN3717AD und/oder AR
EHMT13897AD und/oder Impr
EXT12241AD und/oder Ass
FBN18616AD und/oder Mult
FDFT11254AR
FGFR12469AD und/oder Dig
FGFR22466AD und/oder Sus
FGFR32421AD und/oder AR und/oder SMu
FMR11899XL
FXN633AR und/oder Ass
GAA2859AR
GABBR22826AD
GALNS1569AR
GDNF636AD
GFAP1299AD
GJB1852XLD
GNS1659AR
GPC31743XLR und/oder SMu und/oder Sus
GPC41671XLR und/oder Sus
GRN1782AD und/oder AR
HDAC81134XLD
HGSNAT1908AR
IDS1653XLR
IDUA1962AR
KANSL13318AD und/oder Impr
KCNQ52772AD
KCNT13708AD
KCTD7870AR
KDM5B4635AR
MAGEL23750AD
MBD54485AD
MECP21461XL
MFSD81557AR
MPZ747AD und/oder AR
NAGLU2232AD und/oder AR
NDN966AD
NDP402XLR
NF18457AD und/oder SMu und/oder Sus
NF21788AD
NIPBL8415AD und/oder Impr
NPC13837AR
NPC2456AR
OFD13039XL
PHOX2B945AD
PIGA1455XLR
PMP22483AD und/oder AR
POLR1C1041AR
POLR1D402AD und/oder AR
POLR2A5913AD
PPT1921AR
RAB23714AR
RAD211896AD und/oder AR und/oder SMu und/oder Impr
RAI15721AD
RBM102793XLR
RET3345AD und/oder Dig und/oder Sus
SEMA3E2328AD
SEPSECS1506AR
SGSH1509AR
SHANK35386AD
SLC6A41893AD
SMC1A3702XLD und/oder Impr
SMC33654AD und/oder SMu und/oder Impr
SMN1885AR
SNRPN723AD
SPR786AD und/oder AR
SUMF11125AR
TCF42016AD und/oder Mult
TCOF14467AD
TH1587AR
TPP11692AR
TRPV42616AD
TSC13495AD und/oder Sus
TSC25424AD und/oder Sus
TWIST1609AD
UBE3A2559AD und/oder Mult
WASHC53480AD und/oder AR

Infos zur Erkrankung

Klinischer Kommentar

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

 

Synonyme
  • 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)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder SMu
  • AD und/oder AR und/oder SMu und/oder Impr
  • AD und/oder Ass
  • AD und/oder Dig
  • AD und/oder Dig und/oder Sus
  • AD und/oder Impr
  • AD und/oder Mult
  • AD und/oder SMu
  • AD und/oder SMu und/oder Impr
  • AD und/oder SMu und/oder Sus
  • AD und/oder Sus
  • AR
  • AR und/oder Ass
  • Mult und/oder SMu
  • XL
  • XLD
  • XLD und/oder Impr
  • XLR
  • XLR und/oder SMu und/oder Sus
  • XLR und/oder Sus
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
G47.-

Bioinformatik und klinische Interpretation

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