ErkrankungHörverlust, großes panel incl. Syndrome

NGS +

Erblich bedingte Schwerhörigkeit und Taubheit können als syndromal oder nicht-syndromal angesehen werden. Mehr als 400 genetische Syndrome sind beschrieben, die auch Schwerhörigkeit beinhalten. Nicht-syndromale Schwerhörigkeit geht nicht mit sichtbaren Anomalien des Außenohrs oder damit zusammenhängenden medizinischen Problemen einher. Sie kann jedoch mit Anomalien des Mittelohrs und/oder des Innenohrs verbunden sein. Die Ursachen für nicht-syndromale Schwerhörigkeit sind komplex. Etwa 80% der prälingualen Taubheit ist genetisch bedingt (>100 mutierte Gene). Am häufigsten wird sie autosomal rezessiv und nicht-syndromal vererbt, nur mit 20% autosomal dominant und mit 1%-1,5% X-chromosomal oder mitochondrial. Die Ursache für schwere autosomal rezessive, nicht-syndromale Schwerhörigkeit liegt in den meisten Populationen an Mutationen im GJB2-Gen. Die häufigste Ursache für eine leichte bis mittelschwere autosomal rezessive Schwerhörigkeit ist eine STRC-Mutation – mit erheblichen ethnischen Unterschieden. Bei postlingualer nicht-syndromaler Schwerhörigkeit weisen die meisten gemeldeten Familien einen autosomal-dominanten Erbgang auf. Nicht-syndromale erbliche Schwerhörigkeit ist durch extreme genetische Heterogenität gekennzeichnet, was die Bedeutung der Verwendung von Multigen-Sequenzierungs-panels für die genetische Diagnose unterstreicht. Die DNA-diagnostische Ausbeute übersteigt selten 33%, womit die klinische Diagnose genetisch nicht ausgeschlossen werden kann.

Referenz: https://www.ncbi.nlm.nih.gov/books/NBK1434/

• Alias Hearing loss, deafness
• Alias: Deafness, AD
• Alias: Schwerhörigkeit, Hörstörungen, Taubheit
• Allelic: Anterior segment anomalies with/-out cataract (EYA1)
• Allelic: Atrial fibrillation, familial, 3 (KCNQ1)
• Allelic: Behr syndrome (OPA1)
• Allelic: Cardiomyopathy, dilated, 1J (EYA4)
• Allelic: Cataract 41 (WFS1)
• Allelic: Charcot-Marie-Tooth disease, AR intermediate, B (KARS1)
• Allelic: Charcot-Marie-Tooth disease, XLR, 5 (PRPS1)
• Allelic: Charcot-Marie-Tooth disease, axonal, type 2Z (MORC2)
• Allelic: Charcot-Marie-Tooth disease, dominant intermediate C (YARS)
• Allelic: Charcot-Marie-Tooth disease, type 1A (PMP22)
• Allelic: Combined oxidative phosphorylation deficiency 13 (PNPT1)
• Allelic: Corneal dystrophy, Fuchs endothelial, 4 (SLC4A11)
• Allelic: Corneal endothelial dystrophy, AR (SLC4A11)
• Allelic: Delpire-McNeill syndrome (SLC12A2)
• Allelic: Dentin dysplasia, type II (DSPP)
• Allelic: Dentinogenesis imperfecta, Shields type II + III (DSPP)
• Allelic: Developmental + epileptic encephalopathy 16 (TBC1D24)
• Allelic: Developmental + epileptic encephalopathy 81 ((DMXL2)
• Allelic: Diabetes mellitus, noninsulin-dependent, association with (WFS1)
• Allelic: Ectodermal dysplasia 2, Clouston type (GJB6)
• Allelic: Epilepsy, rolandic, with proxysmal exercise-induce dystonia + writer's cramp (TBC1D24)
• Allelic: Epiphyseal dysplasia, multiple, 2 (COL9A2)
• Allelic: Epiphyseal dysplasia, multiple, 3, with/-out myopathy (COL9A3)
• Allelic: Epiphyseal dysplasia, multiple, 6 (COL9A1)
• Allelic: Erythrokeratodermia variabilis et progressiva 1 (GJB3)
• Allelic: Febrile seizures, familial, 4 (ADGRV1)
• Allelic: Fibrochondrogenesis 1 (COL11A1)
• Allelic: Fibrochondrogenesis 2 (COL11A2)
• Allelic: GRACILE syndrome (BCS1L)
• Allelic: Gastrointestinal stromal tumor, familial 606764 AD, IC 3
• Allelic: Glaucoma, normal tension, susceptibility to (OPA1)
• Allelic: Glomerulosclerosis, focal segmental, 7 (PAX2)
• Allelic: Gout, PRPS-related (PRPS1)
• Allelic: Hirschsprung disease, susceptibility to, 2 (EDNRB)
• Allelic: Hirschsprung disease, susceptibility to, 4 (EDN3)
• Allelic: Hydrops, lactic acidosis + sideroblastic anemia (LARS2)
• Allelic: Hyperpigmentation with/-out hypopigmentation (KITLG)
• Allelic: Hypogonadotropic hypogonadism 5 with/-out anosmia (CHD7)
• Allelic: Intervertebral disc disease, susceptibility to (COL9A3)
• Allelic: Kniest dysplasia (COL2A1)
• Allelic: Long QT syndrome 1 (KCNQ1)
• Allelic: Long QT syndrome 1, acquired, susceptibility to (KCNQ1)
• Allelic: Long QT syndrome 5 (KCNE1)
• Allelic: Lumbar disc herniation, susceptibility to (COL11A1)
• Allelic: Mastocytosis, cutaneous (KIT)
• Allelic: Melanoma, cutaneous malignant, susceptibility to, 8 (MITF)
• Allelic: Meningioma (MN1)
• Allelic: Mitochondrial DNA depletion syndrome 14, encephalocardiomyopathic type (OPA1)
• Allelic: Mitochondrial complex III deficiency, nuclear type 1 (BCS1L)
• Allelic: Myoclonic epilepsy, infantile, familial (TBC1D24)
• Allelic: Neuropathy, inflammatory demyelinating (PMP22)
• Allelic: Neuropathy, recurrent, with pressure palsies (PMP22)
• Allelic: Optic atrophy 1 (OPA1)
• Allelic: Osteoarthritis with mild chondrodysplasia (COL2A1)
• Allelic: Osteofibrous dysplasia, susceptibility to (MET)
• Allelic: Otospondylomegaepiphyseal dysplasia, AD + AR (COL11A2)
• Allelic: Phosphoribosylpyrophosphate synthetase superactivity (PRPS1)
• Allelic: Platyspondylic skeletal dysplasia, Torrance type (COL2A1)
• Allelic: Polyendocrine-polyneuropathy syndrome (DMXL2)
• Allelic: Renal cell carcinoma, papillary, 1, familial + somatic (MET)
• Allelic: Renal hypodysplasia/aplasia 3 (GREB1L)
• Allelic: Retinal disease in Usher syndrome type IIA, modifier of (PDZD7)
• Allelic: Retinitis pigmentosa 39 (USH2A)
• Allelic: Retinitis pigmentosa 61 (CLRN1)
• Allelic: Rhabdomyosarcoma 2, alveolar (PAX3)
• Allelic: Roussy-Levy syndrome (PMP22)
• Allelic: SED congenita (COL2A1)
• Allelic: SMED Strudwick type (COL2A1)
• Allelic: Short QT syndrome 2 (KCNQ1)
• Allelic: Skin/hair/eye pigmentation 7, blond/brown hair (KITLG)
• Allelic: Spondyloepimetaphyseal dysplasia, XL, with hypomyelinating leukodystrophy (AIFM1)
• Allelic: Spondyloepiphyseal dysplasia, Stanescu type (COL2A1)
• Allelic: Spondyloperipheral dysplasia (COL2A1)
• Allelic: Stickler sydrome, type I, nonsyndromic ocular (COL2A1)
• Allelic: Very Early Onset Inflammatory Bowel Disease [panelapp] (STXBP3)
• Allelic: Vohwinkel syndrome (GJB2)
• 3-methylglutaconic aciduria with deafness, encephalopathy + Leigh-like syndrome (SERAC1)
• 3MC syndrome 1 (MASP1)
• ABCD syndrome (EDNRB)
• Alport syndrome 1, XL (COL4A5)
• Alstrom syndrome (ALMS1)
• Arts syndrome (PRPS1)
• Auditory neuropathy + optic atrophy (FDXR)
• Auditory neuropathy, AD, 1 (DIAPH3)
• Auditory neuropathy, AR, 1 (OTOF)
• Baraitser-Winter syndrome 2 (ACTG1)
• Bart-Pumphrey syndrome (GJB2)
• Bartter syndrome, type 4a (BSND)
• Bjornstad syndrome (BCS1L)
• Branchiootic syndrome 1 (EYA1)
• Branchiootic syndrome 3 (SIX1)
• Brown-Vialetto-Van Laere syndrome 1 (SLC52A3)
• Brown-Vialetto-Van Laere syndrome 2 (SLC52A2)
• CEBALID syndrome (MN1)
• CHARGE syndrome (CHD7)
• COMMAD syndrome (MITF)
• Cerebellar ataxia, deafness + narcolepsy, AD (DNMT1)
• Charcot-Marie-Tooth disease + deafness (PMP22)
• Charcot-Marie-Tooth disease, type 1E (PMP22)
• Chudley-McCullough syndrome (GPSM2)
• Cochlea malformations [panelapp] (FOXF2)
• Coenzyme Q10 deficiency, primary, 2 (PDSS1)
• Combined oxidative phosphorylation deficiency 24 (NARS2)
• Combined oxidative phosphorylation deficiency 6 (AIFM1)
• Cone-rod dystrophy + hearing loss (CEP78)
• Cone-rod dystrophy and hearing loss 2 (CEP250)
• Congenital disorder of glycosylation, type IIj (COG4)
• Corneal endothelial dystrophy + perceptive deafness (SLC4A11)
• Cowchock syndrome (AIFM1)
• Craniofacial-deafness-hand syndrome (PAX3)
• D-bifunctional protein deficiency (HSD17B4)
• DOORS syndrome (TBC1D24)
• Deafness + myopia (SLITRK6)
• Deafness [panelapp] (SPATC1L)
• Deafness, AD 1, with/-out thrombocytopenia (DIAPH1)
• Deafness, AD 10 (EYA4)
• Deafness, AD 101 (GRXCR2)
• Deafness, AD 11 (MYO7A)
• Deafness, AD 13 (COL11A2)
• Deafness, AD 15 (POU4F3)
• Deafness, AD 17 (MYH9)
• Deafness, AD 20/26 (ACTG1)
• Deafness, AD 22 (MYO6)
• Deafness, AD 22, with hypertrophic cardiomyopathy (MYO6)
• Deafness, AD 23 (SIX1)
• Deafness, AD 25 (SLC17A8)
• Deafness, AD 27 (REST)
• Deafness, AD 28 (GRHL2)
• Deafness, AD 2A (KCNQ4)
• Deafness, AD 2B (GJB3)
• Deafness, AD 34, with/-out inflammation (NLRP3)
• Deafness, AD 36 (TMC1)
• Deafness, AD 37 (COL11A1)
• Deafness, AD 39, with dentinogenesis (DSPP)
• Deafness, AD 3A (GJB2)
• Deafness, AD 3B (GJB6)
• Deafness, AD 40 (CRYM)
• Deafness, AD 41 (P2RX2)
• Deafness, AD 44 (CCDC50)
• Deafness, AD 4A (MYH14)
• Deafness, AD 4B (CEACAM16)
• Deafness, AD 5 (GSDME)
• Deafness, AD 50 (MIR96)
• Deafness, AD 56 (TNC)
• Deafness, AD 6/14/38 (WFS1)
• Deafness, AD 64 (DIABLO)
• Deafness, AD 65 (TBC1D24)
• Deafness, AD 66 (CD164)
• Deafness, AD 67 (OSBPL2)
• Deafness, AD 68 (HOMER2)
• Deafness, AD 69, unilateral or asymmetric (KITLG)
• Deafness, AD 7 (LMX1A)
• Deafness, AD 70 (MCM2)
• Deafness, AD 71 (DMXL2)
• Deafness, AD 72 (SLC44A4)
• Deafness, AD 73 (PTPRQ)
• Deafness, AD 74 (PDE1C)
• Deafness, AD 75 (TRRAP)
• Deafness, AD 76 (PLS1)
• Deafness, AD 77 (ABCC1)
• Deafness, AD 78 (SLC12A2)
• Deafness, AD 79 (SCD5)
• Deafness, AD 8/12 (TECTA)
• Deafness, AD 80 (GREB1L)
• Deafness, AD 81 (ELMOD3)
• Deafness, AD 9 (COCH)
• Deafness, AD [panelapp] (TOP2B)
• Deafness, AD, with peripheral neuropathy (GJB3)
• Deafness, AR (GJB3)
• Deafness, AR 100 (PPIP5K2)
• Deafness, AR 102 (EPS8)
• Deafness, AR 103 (CLIC5)
• Deafness, AR 104 (RIPOR2)
• Deafness, AR 106 (EPS8L2)
• Deafness, AR 107 (WBP2)
• Deafness, AR 108 (ROR1)
• Deafness, AR 109 (ESRP1)
• Deafness, AR 110 (COCH)
• Deafness, AR 111 (MPZL2)
• Deafness, AR 112 (BDP1)
• Deafness, AR 113 (CEACAM16)
• Deafness, AR 114 (GRAP)
• Deafness, AR 115 (SPNS2)
• Deafness, AR 116 (CLDN9)
• Deafness, AR 117 (CLRN2)
• Deafness, AR 12 (CDH23)
• Deafness, AR 12, modifier of (ATP2B2)
• Deafness, AR 15 (GIPCY3)
• Deafness, AR 16 (STRC)
• Deafness, AR 18A (USH1C)
• Deafness, AR 18B (OTOG)
• Deafness, AR 1A (GJB2)
• Deafness, AR 1B (GJB6)
• Deafness, AR 2 (MYO7A)
• Deafness, AR 21 (TECTA)
• Deafness, AR 22 (OTOA)
• Deafness, AR 23 (PCDH15)
• Deafness, AR 24 (RDX)
• Deafness, AR 25 (GRXCR1)
• Deafness, AR 26 (GAB1)
• Deafness, AR 28 (TRIOBP)
• Deafness, AR 29 (CLDN14)
• Deafness, AR 3 (MYO15A)
• Deafness, AR 30 (MYO3A)
• Deafness, AR 31 (WHRN)
• Deafness, AR 32, with/-out immotile sperm (CDC14A)
• Deafness, AR 35 (ESRRB)
• Deafness, AR 36 (ESPN)
• Deafness, AR 37 (MYO6)
• Deafness, AR 39 (HGF)
• Deafness, AR 4, with enlarged vestibular aqueduct (SLC26A4)
• Deafness, AR 42 (ILDR1)
• Deafness, AR 44 (ADCY1)
• Deafness, AR 48 (CIB2)
• Deafness, AR 49 (MARVELD2)
• Deafness, AR 53 (COL11A2)
• Deafness, AR 57 (PDZD7)
• Deafness, AR 59 (PJVK)
• Deafness, AR 6 (TMIE)
• Deafness, AR 61 (SLC26A5)
• Deafness, AR 63 (LRTOMT)
• Deafness, AR 66 (DCDC2)
• Deafness, AR 67 (LHFPL5)
• Deafness, AR 68 (S1PR2)
• Deafness, AR 7 (TMC1)
• Deafness, AR 70 (PNPT1)
• Deafness, AR 71 (DFNB71)
• Deafness, AR 74 (MSRB3)
• Deafness, AR 76 (SYNE4)
• Deafness, AR 77 (LOXHD1)
• Deafness, AR 79 (TPRN)
• Deafness, AR 8/10 (TMPRSS3)
• Deafness, AR 84A (PTPRQ)
• Deafness, AR 84B (OTOGL)
• Deafness, AR 86 (TBC1D24)
• Deafness, AR 88 (ELMOD3)
• Deafness, AR 89 (KARS1)
• Deafness, AR 9 (OTOF)
• Deafness, AR 91 (SERPINB6)
• Deafness, AR 93 (CABP2)
• Deafness, AR 94 (NARS2)
• Deafness, AR 97 (MET)
• Deafness, AR 98 (TSPEAR)
• Deafness, AR 99 (TMEM132E)
• Deafness, Dig GJB2/GJB3 (GJB2, GJB3)
• Deafness, Dig GJB2/GJB6 (GJB2, GJB6)
• Deafness, XL 1 (PRPS1)
• Deafness, XL 2 (POU3F4)
• Deafness, XL 4 (SMPX)
• Deafness, XL 5 (AIFM1)
• Deafness, XL 6 (COL4A6)
• Deafness, XL 7 (GPRASP2)
• Deafness, congenital + adult-onset progressive leukoencephalopathy (KARS1)
• Deafness, congenital with inner ear agenesis, microtia + microdontia (FGF3)
• Deafness, congenital, with onychodystrophy, AD (ATP6V1B2)
• Deafness, neurosensory, AR 47 (DFNB47)
• Deafness, neurosensory, without vestibular involvement, AD (ESPN)
• Dejerine-Sottas disease (PMP22)
• Developmental delay, impaired growth, dysmorphic facies, axonal neuropathy (MORC2)
• Diets-Jongmans syndrome (KDM3B)
• Distal renal tubular acidosis 2 with progressive sensorineural hearing loss (ATP6V1B1)
• Duane-radial ray syndrome (SALL4)
• Enlarged vestibular aqueduct (FOXI1)
• Enlarged vestibular aqueduct, Dig (KCNJ10)
• Epilepsy, hearing loss + mental retardation syndrome (SPATA5)
• Epiphyseal dysplasia, multiple, with myopia + deafness (COL2A1)
• Fazio-Londe disease (SLC52A3)
• Hypoparathyroidism, sensorineural deafness + renal dysplasia (GATA3)
• Hystrix-like ichthyosis with deafness (GJB2)
• IVIC syndrome (SALL4)
• Infantile-onset multisystem neurologic, endocrine + pancreatic disease 2 (YARS)
• Jervell + Lange-Nielsen syndrome (KCNQ1)
• Jervell + Lange-Nielsen syndrome 2 (KCNE1)
• Keratitis-ichthyosis-deafness syndrome (GJB2)
• Keratoderma, palmoplantar, with deafness (GJB2)
• Kilquist syndrome (SLC12A2)
• Leukoencephalopathy, progressive, infantile-onset, with/-out deafness (KARS1)
• MEDNIK syndrome (AP1S1)
• Macrothrombocytopenia + granulocyte inclusions with/-out nephritis/sensorineural hearing loss (MYH9)
• Marshall syndrome (COL11A1)
• Microphthalmia, syndromic 3 (SOX2)
• Microtia with/-out hearing impairment, AD (HOXA2)
• Microtia, hearing impairment + cleft palate, AR (HOXA2)
• Mohr-Tranebjaerg syndrome (TIMM8A)
• Nephrotic syndrome, type 14 (SGPL1)
• Neurodevelopmental disorder with hypotonia, neuropathy + deafness (SPTBN4)
• Neuropathy, hereditary sensory, type IE (DNMT1)
• Nonsyndromic genetic deafness [MONDO:0019497] (THOC)
• Optic atrophy plus syndrome (OPA1)
• Optic nerve hypoplasia + abnormalities of the central nervous system (SOX2)
• Otofaciocervical syndrome (EYA1)
• PCWH syndrome (SOX10)
• Papillorenal syndrome (PAX2)
• Pendred syndrome (SLC26A4)
• Peripheral neuropathy, myopathy, hoarseness + hearing loss (MYH14)
• Perrault syndrome 1 (HSD17B4)
• Perrault syndrome 2 (HARS2)
• Perrault syndrome 3 (CLPP)
• Perrault syndrome 4 (LARS2)
• Piebaldism (KIT, SNAI2)
• Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa + cataract (ABHD12)
• Profound sensorineural hearing loss [panelapp] (FOXF2)
• SESAME syndrome (KCNJ10)
• Saul-Wilson syndrome (COG4)
• Sensorineural deafness with mild renal dysfunction (BSND)
• Sensorineural hearing impairment [HP:0000407] (RNF220)
• Sensorineural hearing loss (STXBP3)
• Sensorineural hearing loss [panelapp] (TMTC2)
• Stickler syndrome [panelapp] (COL9A3)
• Stickler syndrome, type I (COL2A1)
• Stickler syndrome, type II (COL11A1)
• Stickler syndrome, type IV (COL9A1)
• Stickler syndrome, type V (COL9A2)
• Tietz albinism-deafness syndrome (MITF)
• Townes-Brocks branchiootorenal-like syndrome (SALL1)
• Townes-Brocks syndrome 1 (SALL1)
• Usher syndrome, type 1B (MYO7A)
• Usher syndrome, type 1C (USH1C)
• Usher syndrome, type 1D/F digenic (PCDH15)
• Usher syndrome, type 1G (USH1G)
• Usher syndrome, type 1J (CIB2)
• Usher syndrome, type 2C (ADGRV1)
• Usher syndrome, type 2C, GPR98/PDZD7 digenic (ADGRV1)
• Usher syndrome, type 2C, GPR98/PDZD7 digenic (PDZD7)
• Usher syndrome, type 2D (WHRN)
• Usher syndrome, type 3A (CLRN1)
• Vertebral, cardiac, renal + limb defects syndrome 1 (HAAO)
• Waardenburg syndrome, type 1 (PAX3)
• Waardenburg syndrome, type 2A (MITF)
• Waardenburg syndrome, type 2D (SNAI2)
• Waardenburg syndrome, type 2E, with/-out neurologic involvement (SOX10)
• Waardenburg syndrome, type 3 (PAX3)
• Waardenburg syndrome, type 4A (EDNRB)
• Waardenburg syndrome, type 4B (EDN3)
• Waardenburg syndrome, type 4C (SOX10)
• Waardenburg syndrome/ocular albinism, digenic (MITF)
• Wolfram syndrome 1 (WFS1)
• Wolfram syndrome 2 (CISD2)
• Wolfram-like syndrome, AD (WFS1)
• Zimmermann-Laband syndrome 2 (ATP6V1B2)