©istock.com/Andrea Obzerova
Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessSleep disorders, secondary; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Sleep disorders, secondary, comprising altogether 128 curated genes according to the clinical signs

ID
SP8976
Number of genes
105 Accredited laboratory test
Examined sequence length
0,0 kb (Core-/Core-canditate-Genes)
266,8 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
ADCY53786AD, AR
AGA1041AR
ANK33006AR
ASCL1711AD
ASH1L8895AD
ASXL14626AD
ASXL36747AD
ATP1A33042AD
ATP7B4398AR
CCDC221884XLR
CHD78994AD
CHRNA21590AD
CHRNA41884AD
CHRNB21509AD
CLN31317AR
CLN51077AR
CLN6936AR
CLN8861AR
CNBP534AD
CRH591Mult
CTSD1239AR
CTSF1455AR
CTSK990AR
DEAF11698AD, AR
DEPDC54812AD
DHCR71428AR
DMD11058XLR
DMPK1920AD
DNAJC5597AD
EDN3717AD, AR
EHMT13897AD
EXT12241AD
FBN18616AD, Mult
FDFT11254AR
FGFR12469Ass
FGFR22466Ass
FGFR32421Ass
FMR11899XL
FXN633AR, Ass
GAA2859AR
GABBR22826AD
GALNS1569AR
GDNF636AD
GFAP1299AD
GJB1852XLD
GNS1659AR
GPC31743XLR, Sus
GPC41671XLR, Sus
GRN1782Ass
HDAC81134XLD
HGSNAT1908AR
IDS1653XLR
IDUA1962AR
KANSL13318AD
KCNQ52772AD
KCNT13708AD
KCTD7870AR
KDM5B4635AR
MAGEL23750AD
MBD54485AD
MECP21461XL
MFSD81557AR
MPZ747AD
NAGLU2232Ass
NDN966AD
NDP402XLR
NF18457Ass
NF21788AD
NIPBL8415AD
NPC13837AR
NPC2456AR
OFD13039XL
PHOX2B945AR
PIGA1455XLR
PMP22483AD
POLR1C1041AR
POLR1D402AD, AR
POLR2A5913AD, AR
PPT1921AR
RAB23714AR
RAD211896AD, AR
RAI15721AD
RBM102793XLR
RET3345n.k.
SEMA3E2328AD
SEPSECS1506AR
SGSH1509AR
SHANK35386AD
SLC6A41893AD
SMC1A3702XLD
SMC33654AD
SMN1885AR
SNRPN723AD
SPR786AR
SUMF11125AR
TCF42016AD
TCOF14467AD
TH1587AD
TPP11692AR
TRPV42616AD
TSC13495Ass
TSC25424AD
TWIST1609AD
UBE3A2559AD
WASHC53480AD

Informations about the disease

Clinical Comment

While some progress has been made in the detection of genetic sleep disorders in adults, the same disorders, affecting up to 30% of healthy children, are still too rarely recognized. Inborn errors of metabolism and non-metabolic genetic syndromes usually manifest in early childhood with progressive neuromuscular, skeletal and/or neurocognitive abnormalities. Affected children often suffer from inadequate sleep, which is associated with impaired breathing as well. Sleep-related breathing disorders are quite common in the general population. Nevertheless, children and young adults with genetic conditions associated with sleep-related breathing disorders are rarely also investigated by molecular genetic methods. Overall, the genetics of sleep-related disorders presents as extremely heterogeneous, and only rarely can monogenic causes be clearly demonstrated.

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

 

Synonyms
  • 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: Epilepsy, idiopathic generalized, susceptibility to, 12 (SLC2A1)
  • Allelic: Epilepsy, idiopathic generalized, susceptibility to, 16 (KCNMA1)
  • Allelic: Epilepsy, juvenile myoclonic, susceptibility to, 6 (CACNB4)
  • 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)
  • Allelic; Epilepsy, idiopathic generalized, susceptibility to, 9 (CACNB4)
  • AD nocturnal frontal lobe epilepsy (CRH)
  • ATP1A3-related neurologic disorders (ATP1A3)
  • Achondroplasia (FGFR3)
  • Acromicric dysplasia (FBN1)
  • Advanced sleep-phase syndrome, familial, 2 (CSNK1D)
  • Alexander disease (GFAP)
  • Alternating hemiplegia of childhood 1 (ATP1A2)
  • 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)
  • Cerebellar ataxia, deafness, and narcolepsy, AD (DNMT1)
  • Cerebellar atrophy, developmental delay, seizures (KCNMA1)
  • 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)
  • Cognitive impairment with/-out cerebellar ataxia (SCN8A)
  • Congenital central hypoventilation syndrome (PHOX2B)
  • Convulsions, familial infantile, with paroxysmal choreoathetosis (PRRT2)
  • 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 13 (SCN8A)
  • Developmental and epileptic encephalopathy 42 (CACNA1A)
  • Developmental and epileptic encephalopathy 59 (GABBR2)
  • Developmental and epileptic encephalopathy 6B, non-Dravet (SCN1A)
  • Developmental and epileptic encephalopathy 7 (KCNQ2)
  • Developmental and epileptic encephalopathy 98 (ATP1A2)
  • Digital arthropathy-brachydactyly, familial (TRPV4)
  • Dravet syndrome (SCN1A)
  • Duchenne muscular dystrophy (DMD)
  • Dyskinesia, familial, with facial myokymia (ADCY5)
  • Dyskinesia, limb + orofacial, infantile-onset (PDE10A)
  • Dystonia 9 (SLC2A1)
  • 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)
  • Episodic ataxia, type 2 (CACNA1A)
  • Episodic ataxia, type 5 (CACNB4)
  • Episodic ataxia, type 6 (SLC1A3)
  • Episodic ataxia/myokymia syndrome (KCNA1)
  • Episodic kinesigenic dyskinesia 1 (PRRT2)
  • Exostoses, multiple, type 1 [1 family] (EXT1)
  • Exudative vitreoretinopathy 2, XL (NDP)
  • Febrile seizures, familial, 3A (SCN1A)
  • Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, dysmorphic face (ATP1A2)
  • 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)
  • GLUT1 deficiency syndrome 1, infantile onset, severe (SLC2A1)
  • GLUT1 deficiency syndrome 2, childhood onset (SLC2A1)
  • Geleophysic dysplasia 2 (FBN1)
  • Generalized epilepsy with febrile seizures plus, type 2 (SCN1A)
  • Glycogen storage disease II (GAA)
  • Hartsfield syndrome (FGFR1)
  • Hereditary motor + sensory neuropathy, type IIc (TRPV4)
  • Hirschsprung disease, susceptibility to, 3 (GDNF)
  • Hyperekplexia 1 (GLRA1)
  • Hyperekplexia 2 (GLRB)
  • Hyperekplexia 3 (SLC6A5)
  • Hyperekplexia 4 (ATAD1)
  • Hypochondroplasia (FGFR3)
  • Hypogonadotropic hypogonadism 2 +/- anosmia (FGFR1)
  • Hypogonadotropic hypogonadism 5 with/-out anosmia (CHD7)
  • Hypomyelinating neuropathy, congenital, 2 (MPZ)
  • Intellectual developmental disorder + paroxysmal dyskinesia/seizures (PDE2A)
  • 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)
  • Liang-Wang syndrome (KCNMA1)
  • 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)
  • Migraine, familial basilar (ATP1A2)
  • Migraine, familial hemiplegic, 1 (CACNA1A)
  • Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia (CACNA1A)
  • Migraine, familial hemiplegic, 2 (ATP1A2)
  • Migraine, familial hemiplegic, 3 (SCN1A)
  • Migraine, with/-out aura, susceptibility to, 13 (KCNK18)
  • 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)
  • Myoclonus, familial, 2 (SCN8A)
  • Myokymia (KCNQ2)
  • Myotonic dystrophy 1 (DMPK)
  • Myotonic dystrophy 2 (CNBP)
  • Narcolepsy 7 (MOG)
  • Neuroblastoma with Hirschsprung disease (PHOX2B)
  • Neurodevelopmental disorder with hypotonia, autism +/- hyperkinesis (VAMP2)
  • 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, hereditary sensory, type IE (DNMT1)
  • 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)
  • Paroxysmal nonkinesigenic dyskinesia 1 (PNKD)
  • Paroxysmal nonkinesigenic dyskinesia, 3, with/-out generalized epilepsy (KCNMA1)
  • 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)
  • Seizures, benign familial infantile, 2 (PRRT2)
  • Seizures, benign familial infantile, 5 (SCN8A)
  • Seizures, benign neonatal, 1 (KCNQ2)
  • 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 6 (CACNA1A)
  • Spinocerebellar ataxia, AR 7 (TPP1)
  • Spondylometaphyseal dysplasia, Kozlowski type (TRPV4)
  • Squalene synthase deficiency (FDFT1)
  • Stiff skin syndrome (FBN1)
  • Stomatin-deficient cryohydrocytosis with neurologic defects (SLC2A1)
  • Striatal degeneration, AD (PDE10A)
  • 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)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Ass
  • Mult
  • Sus
  • XL
  • XLD
  • XLR
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
G47.-

Bioinformatics and clinical interpretation

No text defined