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Interdisziplinäre KompetenzMolekulare Diagnostik
Know how bei der Analyse von Erbmaterial.
Zum Wohle von Patienten.

ErkrankungHörverlust, großes panel incl. Syndrome

Zusammenfassung

Kurzinformation

Ein kuratiertes panel mit 17 oder insgesamt 191 Genen zur umfassenden Untersuchung von praktisch allen gesicherten, genetisch bedingten Ursachen von Hörverlust incl. Syndrome

ID
HP2324
Anzahl Gene
188 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
49,8 kb (Core-/Basis-Gene)
526,3 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
ACTG11128AD
AIFM11842XLR
COL4A55058XLD
COL4A65076XLR
DIAPH13819AD und/oder AR
GJB2681AD und/oder AR und/oder Dig
GJB6786AD und/oder AR und/oder Dig
KCNQ12031AD und/oder AR und/oder Dig und/oder Sus
MYH145988AD
MYO7A6648AD und/oder AR und/oder Dig
POU3F41086XLR
PRPS1957XLR
SLC26A42343AR und/oder Dig
SMPX267XLD
STRC5328AR
TECTA6468AD und/oder AR
TIMM8A294XLR
ABCC14596AD
ABHD121197AR
ADCY13360AR
ADGRV118921AD und/oder AR
ALMS112504AR
AP1S1477AR
ARMCX5-GPRASP24163XL
ATP2B23597AD und/oder AR und/oder Dig
ATP6V1B11542AR
ATP6V1B21536AD
BCS1L1260AR
BDP17875AR
BSND963AR
CABP2663AR
CCDC501449AD
CD164722AD
CDC14A2176AR
CDH2310065AR und/oder Dig
CEACAM161278AD und/oder AR
CEP2507329AR
CEP782216AR
CHD78994AD
CIB2564AR
CISD2408AR
CLDN14720AR
CLDN9655AR
CLIC51233AR
CLPP834AR
CLRN1699AR
CLRN2702AR
COCH1653AD und/oder AR
COG42295AD und/oder AR
COL11A15421AD und/oder AR
COL11A25211AD und/oder AR
COL2A14464AD
COL9A12766AD und/oder AR
COL9A22070AD und/oder AR
COL9A32055AD und/oder AR
CRYM945AD
DCDC21431AR
DIABLO429AD
DIAPH33582AD
DMXL29114AD
DNMT14899AD
EDN3717AD und/oder AR
EDNRB1329AD und/oder AR und/oder Sus
ELMOD31146AR
EPS82469AR
EPS8L22220AR
ESPN2565AD und/oder AR
ESRP12099AR
ESRRB1527AR
EYA11779AD
EYA41920AD
FDXR1848AR
FGF3720AR
FOXF21335AD und/oder Mult
FOXI11137AR und/oder Dig
GAB12324AR
GATA31335AD
GIPC3939AR
GJB3813AD und/oder Dig
GPSM22055AR
GRAP792AR
GREB1L6329AD
GRHL21878AD und/oder AR
GRXCR1873AR
GRXCR2747AR
GSDME1491AD
HAAO871AR
HARS21521AR
HGF2187AR
HOMER21032AD
HOXA21131AD und/oder AR
HSD17B42211AR
ILDR11641AR
KARS11940AR
KCNE1390AD und/oder AR und/oder Dig
KCNJ101140AR und/oder Dig
KCNQ42088AD und/oder AR
KDM3B5420AD
KIT2931AD und/oder AR und/oder SMu und/oder Sus
KITLG822AD
LARS22712AR
LHFPL5660AR
LMX1A1205AD
LOXHD16636AR
LRTOMT876AR
MARVELD21677AR
MASP12187AR
MCM22731AD
MET4227AD und/oder AR und/oder Sus
MITF1260AD und/oder AR und/oder Sus
MN13963AD
MORC23140AD
MPZL2653AR
MSRB3579AR
MYH95883AD
MYO15A10593AR
MYO3A4851AR
MYO63858AD und/oder AR und/oder Dig
NARS21434AR
NLRP33111AD und/oder Dig
OPA12883AD und/oder AR und/oder Mult
OSBPL21113AD
OTOF5994AR
OTOG8778AR
OTOGL7035AR
P2RX21200AD
PAX21254AD
PAX31440AD und/oder AR und/oder SMu und/oder Gen Fusion
PCDH155868AR und/oder Dig
PDE1C1905AD
PDSS11248AR
PDZD73102AR
PJVK1059AR
PLS11905AD
PMP22483AD und/oder AR
PNPT12352AR
POU4F31017AD
PPIP5K24020AR
PTPRQ6446AD und/oder AR
RDX1752AR
REST3294AD und/oder Sus
RIPOR23207AR
ROR12935AR
S1PR21063AR
SALL13975AD
SALL43162AD
SCD51201AD
SERAC11965AR
SERPINB61131AR
SGPL11721AR
SIX1855AD
SLC12A23639AD und/oder AR
SLC17A81620AD
SLC26A52235AR
SLC44A42157AD
SLC4A112676AR
SLC52A21338AR
SLC52A31410AR
SLITRK62526AR
SNAI2807AD und/oder AR
SOX101401AD
SOX2954AD
SPATA52951AR
SPATC1L1230AD und/oder AR
SPNS21662AR
SPTBN47954AR
STXBP31779AD und/oder AR
SYNE41215AR
TBC1D241680AD und/oder AR
THOC12075AD
TMC12283AD und/oder AR
TMEM132E3234AR
TMIE471AR
TMPRSS31365AR
TMTC22634AD
TNC6606AD
TOP2B4917AD
TPRN2136AR
TRIOBP7098AR
TRRAP11580AD
TSPEAR2010AR
USH1C1659AR und/oder Dig
USH1G1386AR
USH2A15609AR
WBP2794AR
WFS12673AD und/oder AR
WHRN2724AR
YARS11587AD

Infos zur Erkrankung

Klinischer Kommentar

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/

 

Synonyme
  • 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)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder Dig
  • AD und/oder AR und/oder Dig und/oder Sus
  • AD und/oder AR und/oder Mult
  • AD und/oder AR und/oder SMu und/oder Gen Fusion
  • AD und/oder AR und/oder SMu und/oder Sus
  • AD und/oder AR und/oder Sus
  • AD und/oder Dig
  • AD und/oder Mult
  • AD und/oder Sus
  • AR
  • AR und/oder Dig
  • XL
  • XLD
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
H90.-

Bioinformatik und klinische Interpretation

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