Klinische FragestellungHörverlust, großes Panel inkl. Syndrome; Differentialdiagnose
Zusammenfassung
Ein kuratiertes panel mit 15 bzw. insgesamt ~220 Genen zur umfassenden Untersuchung aller genetisch bedingten Ursachen von Hörverlust inkl. syndromaler Erkrankungen mit dem führenden Symptom Hörverlust. Für komplexe Syndrome mit Entwicklungsverzögerung sollte eine klinische Exom-Analyse nach HPO-Terms angefordert werden.
609,2 kb (Erweitertes Panel: inkl. additional genes)
- EDTA-Blut (3-5 ml)
- Mundschleimhaut (mind. zwei Abstrichtupfer)
NGS +
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
---|---|---|---|---|
ACTG1 | 1128 | NM_001614.5 | AD | |
AIFM1 | 1842 | NM_004208.4 | XLR | |
COL4A5 | 5058 | NM_000495.5 | XL | |
DIAPH1 | 3819 | NM_005219.5 | AD | |
GJB2 | 681 | NM_004004.6 | AD, AR, digenisch | |
GJB6 | 786 | NM_006783.5 | AD, AR, digenisch | |
KCNQ1 | 2031 | NM_000218.3 | AR | |
MYH14 | 5988 | NM_024729.4 | AD | |
MYO7A | 6648 | NM_000260.4 | AD, AR | |
POU3F4 | 1086 | NM_000307.5 | XLR | |
PRPS1 | 957 | NM_002764.4 | XLR | |
SMPX | 267 | NM_014332.3 | XL | |
STRC | 5328 | NM_153700.2 | AR | |
TECTA | 6468 | NM_005422.4 | AD, AR | |
TIMM8A | 294 | NM_004085.4 | XLR | |
ABCC1 | 4596 | NM_004996.4 | AD | |
ABHD12 | 1197 | NM_001042472.3 | AR | |
ACOX1 | 1869 | NM_004035.7 | AD | |
ADCY1 | 3360 | NM_021116.4 | AR | |
ADGRV1 | 18921 | NM_032119.4 | AR, digenisch | |
AFG2A | 2951 | NM_145207.3 | AR | |
AFG2B | 2262 | NM_024063.3 | AR | |
ALMS1 | 12504 | NM_015120.4 | AR | |
AP1S1 | 477 | NM_001283.5 | AR | |
ARMCX5-GPRASP2 | 4163 | NM_001199818.1 | XL | |
ATP11A | 3965 | NM_015205.3 | AD | |
ATP2B2 | 3597 | NM_001683.5 | AD, AR | |
ATP6V1B1 | 1542 | NM_001692.4 | AR | |
ATP6V1B2 | 1536 | NM_001693.4 | AD | |
BCS1L | 1260 | NM_004328.5 | AR | |
BDP1 | 7875 | NM_018429.3 | AR | |
BSND | 963 | NM_057176.3 | AR | |
CABP2 | 663 | NM_016366.3 | AR | |
CCDC50 | 1449 | NM_178335.3 | AD | |
CD164 | 722 | NM_001142401.3 | AD | |
CDC14A | 2176 | NM_033312.3 | AR | |
CDC6 | 1683 | NM_001254.4 | AR | |
CDH23 | 10065 | NM_022124.6 | AR, digenisch | |
CDT1 | 1641 | NM_030928.4 | AR | |
CEACAM16 | 1278 | NM_001039213.4 | AD, AR | |
CEP250 | 7329 | NM_007186.6 | AR | |
CEP78 | 2216 | NM_001098802.3 | AR | |
CHD7 | 8994 | NM_017780.4 | AD | |
CIB2 | 564 | NM_006383.4 | AR | |
CISD2 | 408 | NM_001008388.5 | AR | |
CLDN14 | 720 | NM_144492.3 | AR | |
CLDN9 | 655 | NM_020982.4 | AR | |
CLIC5 | 1233 | NM_001114086.2 | AR | |
CLPP | 834 | NM_006012.4 | AR | |
CLRN1 | 699 | NM_174878.3 | AR | |
CLRN2 | 702 | NM_001079827.2 | AR | |
COCH | 1653 | NM_004086.3 | AD, AR | |
COG4 | 2295 | NM_001195139.2 | AD | |
COL11A1 | 5421 | NM_001854.4 | AD | |
COL11A2 | 5211 | NM_080680.3 | AD, AR | |
COL2A1 | 4464 | NM_001844.5 | AD | |
COL4A3 | 5013 | NM_000091.5 | AD | |
COL4A4 | 5073 | NM_000092.5 | AR | |
COL4A6 | 5076 | NM_001847.4 | XLR | |
COL9A1 | 2766 | NM_001851.6 | AR | |
COL9A2 | 2070 | NM_001852.4 | AR | |
COL9A3 | 2055 | NM_001853.4 | AR | |
CRLS1 | 932 |
| NM_001127458.2 | AR |
CRYM | 945 | NM_001888.5 | AD | |
DCDC2 | 1431 | NM_016356.5 | AR | |
DIABLO | 429 | NM_001278302.1 | AD | |
DIAPH3 | 3582 | NM_001042517.2 | AD | |
DMXL2 | 9114 | NM_001174116.3 | AD, AR | |
DNMT1 | 4899 | NM_001130823.3 | AD | |
DSPP | 3906 | NM_014208.3 | AD | |
EDN3 | 717 | NM_207034.3 | AD, AR | |
EDNRB | 1329 | NM_000115.5 | AD, AR | |
EFTUD2 | 2919 | NM_004247.4 | AD | |
ELMOD3 | 1146 | NM_001135022.2 | AR | |
EPS8 | 2469 | NM_004447.6 | AR | |
EPS8L2 | 2220 | NM_022772.4 | AR | |
ESPN | 2565 | NM_031475.3 | AD, AR | |
ESRP1 | 2099 | NM_001034915.3 | AR | |
ESRRB | 1527 | NM_004452.4 | AR | |
EYA1 | 1779 | NM_000503.6 | AD | |
EYA4 | 1920 | NM_004100.5 | AD | |
FDXR | 1848 | NM_024417.5 | AR | |
FGF10 | 627 | NM_004465.2 | AD | |
FGF3 | 720 | NM_005247.4 | AR | |
FGFR2 | 2466 | NM_000141.5 | AD | |
FGFR3 | 2421 | NM_000142.5 | AD, AR | |
FOXF2 | 1335 | NM_001452.2 | AR | |
FOXI1 | 1137 | NM_012188.5 | AR | |
GAB1 | 2324 | NM_002039.4 | AR | |
GATA3 | 1335 | NM_001002295.2 | AD | |
GDF6 | 1368 | NM_001001557.4 | AD | |
GGPS1 | 906 | NM_001037277.1 | AR | |
GIPC3 | 939 | NM_133261.3 | AR | |
GJB3 | 813 | NM_024009.3 | AD, AR, digenisch | |
GNAI3 | 1065 | NM_006496.4 | AD | |
GPSM2 | 2055 | NM_013296.5 | AR | |
GRAP | 792 | NM_006613.4 | AR | |
GREB1L | 6329 | NM_001142966.3 | AD | |
GRHL2 | 1878 | NM_024915.4 | AD, AR | |
GRXCR1 | 873 | NM_001080476.3 | AR | |
GRXCR2 | 747 | NM_001080516.2 | AR | |
GSC | 774 | NM_173849.3 | AR | |
GSDME | 1491 | NM_004403.3 | AD | |
HAAO | 871 | NM_012205.3 | AR | |
HARS1 | 1530 | NM_002109.6 | AR | |
HARS2 | 1521 | NM_012208.4 | AR | |
HGF | 2187 | NM_000601.6 | AR | |
HOMER2 | 1032 | NM_004839.4 | AD | |
HOXA2 | 1131 | NM_006735.4 | AD, AR | |
HSD17B4 | 2211 | NM_000414.4 | AR | |
ILDR1 | 1641 | NM_001199799.2 | AR | |
KARS1 | 1940 | NM_001130089.2 | AR | |
KCNE1 | 390 | NM_000219.6 | AR | |
KCNJ10 | 1140 | NM_002241.5 | AR | |
KCNJ16 | 1364 | NM_001270422.2 | AR, - | |
KCNQ4 | 2088 | NM_004700.4 | AD, AR | |
KDM3B | 5420 | NM_016604.4 | AD | |
KIT | 2931 | NM_000222.3 | AD, AR | |
KITLG | 822 | NM_000899.5 | AD | |
LARS2 | 2712 | NM_015340.4 | AR | |
LHFPL5 | 660 | NM_182548.4 | AR | |
LMX1A | 1205 | NM_001174069.2 | AD, AR | |
LOXHD1 | 6636 | NM_144612.7 | AR | |
LRTOMT | 876 | NM_001145308.5 | AR | |
MARVELD2 | 1677 | NM_001038603.3 | AR | |
MASP1 | 2187 | NM_139125.4 | AR | |
MCM2 | 2731 | NM_004526.4 | AD | |
MET | 4227 | NM_001127500.3 | AR | |
MITF | 1260 | NM_000248.4 | AD, AR | |
MN1 | 3963 | NM_002430.3 | AD | |
MORC2 | 3140 | NM_014941.3 | AD | |
MPZL2 | 653 | NM_005797.4 | AR | |
MSRB3 | 579 | NM_198080.4 | AR | |
MYH9 | 5883 | NM_002473.6 | AD | |
MYO15A | 10593 | NM_016239.4 | AR | |
MYO3A | 4851 | NM_017433.5 | AR | |
MYO6 | 3858 | NM_004999.4 | AD, AR | |
NARS2 | 1434 | NM_024678.6 | AR | |
NLRP3 | 3111 | NM_004895.5 | AD | |
OGDHL | 3055 | NM_001143996.2 | AR | |
OPA1 | 2883 | NM_015560.3 | AD | |
OSBPL2 | 1113 | NM_001278649.3 | AD | |
OTOA | 3420 | NM_144672.4 | AR, - | |
OTOF | 5994 | NM_194248.3 | AR | |
OTOG | 8778 | NM_001277269.2 | AR | |
OTOGL | 7035 | NM_173591.7 | AR | |
OXR1 | 3066 | NM_001198532.1 | AR | |
P2RX2 | 1200 | NM_012226.5 | AD | |
PAX3 | 1440 | NM_181457.4 | AD, AR | |
PBX1 | 1293 | NM_002585.4 | AD | |
PCDH15 | 5868 | NM_033056.4 | AR, digenisch | |
PDE1C | 1905 | NM_001191056.3 | AD | |
PDSS1 | 1248 | NM_014317.5 | AR | |
PDZD7 | 3102 | NM_001195263.2 | AR | |
PEX1 | 3852 | NM_000466.3 | AR | |
PEX6 | 2943 | NM_000287.4 | AR | |
PJVK | 1059 | NM_001042702.5 | AR | |
PLS1 | 1905 | NM_002670.3 | AD | |
PMP22 | 483 | NM_000304.4 | AD | |
PNPT1 | 2352 | NM_033109.5 | AR | |
POLR1A | 5197 | NM_015425.6 | AD | |
POLR1C | 1041 | NM_203290.4 | AR | |
POLR1D | 402 | NM_015972.4 | AD, AR | |
POU4F3 | 1017 | NM_002700.3 | AD | |
PPIP5K2 | 4020 | NM_001276277.3 | AR | |
PTPRQ | 6446 | NM_001145026.2 | AR, AD | |
RDX | 1752 | NM_002906.4 | AR | |
REST | 3294 | NM_005612.5 | AD | |
RIPOR2 | 3207 | NM_014722.5 | AR | |
RNF220 | 1979 | NM_018150.4 | AR, - | |
ROR1 | 2935 | NM_001083592.2 | AR | |
RPGR | 2448 | NM_000328.3 | XL | |
RPS28 | 210 | NM_001031.5 | AD | |
S1PR2 | 1063 | NM_004230.4 | AR | |
SALL1 | 3975 | NM_002968.3 | AD | |
SALL4 | 3162 | NM_020436.5 | AD | |
SCD5 | 1201 | NM_001037582.3 | AD | |
SERAC1 | 1965 | NM_032861.4 | AR | |
SERPINB6 | 1131 | NM_004568.6 | AR | |
SF3B4 | 1275 | NM_005850.5 | AD | |
SGPL1 | 1721 | NM_003901.4 | AR | |
SIX1 | 855 | NM_005982.4 | AD | |
SIX5 | 2220 | NM_175875.5 | AD | |
SLC12A2 | 3639 | NM_001046.3 | AR, AD | |
SLC17A8 | 1620 | NM_001145288.2 | AD | |
SLC26A4 | 2343 | NM_000441.2 | AR | |
SLC26A5 | 2235 | NM_198999.3 | AR | |
SLC44A4 | 2157 | NM_001178044.2 | AD | |
SLC4A11 | 2676 | NM_032034.4 | AR | |
SLC52A2 | 1338 | NM_024531.5 | AR | |
SLC52A3 | 1410 | NM_033409.4 | AR | |
SLITRK6 | 2526 | NM_032229.3 | AR | |
SNAI2 | 807 | NM_003068.5 | AD, AR | |
SOX10 | 1401 | NM_006941.4 | AD | |
SOX2 | 954 | NM_003106.4 | AD | |
SPATC1L | 1230 | NM_001142854.2 | AD, AR | |
SPNS2 | 1662 | NM_001124758.3 | AR | |
SPTBN4 | 7954 | NM_020971.3 | AR | |
STX4 | 929 |
| NM_001272095.1 | AR |
STXBP3 | 1779 | NM_007269.4 | AR, AD | |
SYNE4 | 1215 | NM_001039876.3 | AR | |
TBC1D24 | 1680 | NM_001199107.2 | AR, AD | |
TCOF1 | 4467 | NM_001135243.2 | AD | |
TFAP2A | 1296 | NM_001032280.3 | AD | |
THOC1 | 2075 | NM_005131.3 | AD | |
TMC1 | 2283 | NM_138691.3 | AD, AR | |
TMEM132E | 3234 | NM_001304438.2 | AR | |
TMIE | 471 | NM_147196.3 | AR | |
TMPRSS3 | 1365 | NM_024022.4 | AR | |
TMTC2 | 2634 | NM_152588.3 | AD | |
TNC | 6606 | NM_002160.4 | AD | |
TOP2B | 4917 | NM_001068.3 | AD | |
TPRN | 2136 | NM_001128228.3 | AR | |
TRIOBP | 7098 | NM_001039141.3 | AR | |
TRRAP | 11580 | NM_003496.4 | AD | |
TSPEAR | 2010 | NM_144991.3 | AR | |
USH1C | 1659 | NM_005709.4 | AR | |
USH1G | 1386 | NM_173477.5 | AR | |
USH2A | 15609 | NM_206933.4 | AR | |
USP48 | 3259 | NM_001032730.3 | AD, - | |
WBP2 | 794 | NM_012478.4 | AR | |
WFS1 | 2673 | NM_006005.3 | AD, AR | |
WHRN | 2724 | NM_015404.4 | AR | |
YARS1 | 1587 | NM_003680.3 | AR |
Infos zur Erkrankung
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: Deafness, AD
- Alias: Hearing loss, deafness
- Alias: Schwerhörigkeit, Hörstörungen, Taubheit
- Allelic: Achondroplasia (FGFR3)
- Allelic: Anemia, sideroblastic, 4 (HSPA9)
- Allelic: Anterior segment anomalies with/-out cataract (EYA1)
- Allelic: Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (FGFR2)
- Allelic: Aplasia of lacrimal + salivary glands (FGF10)
- Allelic: Atrial fibrillation, familial, 3 (KCNQ1)
- Allelic: Beare-Stevenson cutis gyrata syndrome (FGFR2)
- Allelic: Behr syndrome (OPA1)
- Allelic: Bent bone dysplasia syndrome (FGFR2)
- 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: Craniofacial-skeletal-dermatologic dysplasia (FGFR2)
- Allelic: Craniosynostosis nonspecific (FGFR2)
- Allelic: Crouzon syndrome (FGFR2)
- Allelic: Crouzon syndrome [craniofacial dysostosis] with acanthosis nigricans (FGFR3)
- Allelic: Delpire-McNeill syndrome (SLC12A2)
- Allelic: Dentin dysplasia, type II (DSPP)
- Allelic: Dentinogenesis imperfecta, Shields type II (DSPP)
- Allelic: Dentinogenesis imperfecta, Shields type II + III (DSPP)
- Allelic: Dentinogenesis imperfecta, Shields type 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: Gastric cancer, somatic (FGFR2)
- Allelic: Gastrointestinal stromal tumor, familial (KIT)
- 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: Hypochondroplasia (FGFR3)
- Allelic: Hypogonadotropic hypogonadism 5 with/-out anosmia (CHD7)
- Allelic: Intervertebral disc disease, susceptibility to (COL9A3)
- Allelic: Jackson-Weiss syndrome (FGFR2)
- Allelic: Kniest dysplasia (COL2A1)
- Allelic: Leber congenital amaurosis 17 (GDF6)
- Allelic: Leukodystrophy, hypomyelinating, 11 (POLR1C)
- 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: Microphthalmia with coloboma 6, digenic (GDF6)
- Allelic: Microphthalmia, isolated 4 (GDF6)
- Allelic: Migraine, resistance to (EDNRA)
- Allelic: Mitochondrial DNA depletion syndrome 14, encephalocardiomyopathic type (OPA1)
- Allelic: Mitochondrial complex III deficiency, nuclear type 1 (BCS1L)
- Allelic: Muenke syndrome (FGFR3)
- Allelic: Multiple synostoses syndrome 4 (GDF6)
- 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: Pfeiffer syndrome (FGFR2)
- 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 23 (OFD1)
- Allelic: Retinitis pigmentosa 39 (USH2A)
- Allelic: Retinitis pigmentosa 61 (CLRN1)
- Allelic: Rhabdomyosarcoma 2, alveolar (PAX3)
- Allelic: Roussy-Levy syndrome (PMP22)
- Allelic: SADDAN [Severe Achondroplasia, Developmental Delay, Acanthosis Nigricans] (FGFR3)
- Allelic: SED congenita (COL2A1)
- Allelic: SMED Strudwick type (COL2A1)
- Allelic: Saethre-Chotzen syndrome (FGFR2)
- Allelic: Scaphocephaly + Axenfeld-Rieger anomaly (FGFR2)
- Allelic: Scaphocephaly with maxillary retrusion + mental retardation (FGFR2)
- 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: Thanatophoric dysplasia, type I + II (FGFR3)
- 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)
- Acrofacial dysostosis 1, Nager type (SF3B4)
- Acrofacial dysostosis, Cincinnati type (POLR1A)
- 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)
- Auriculocondylar syndrome 1 (GNAI3)
- Auriculocondylar syndrome 2 (PLCB4)
- Baraitser-Winter syndrome 2 (ACTG1)
- Bart-Pumphrey syndrome (GJB2)
- Bartter syndrome, type 4a (BSND)
- Bjornstad syndrome (BCS1L)
- Branchiooculofacial syndrome (TFAP2A)
- Branchiootic syndrome 1 (EYA1)
- Branchiootic syndrome 2 (SIX5)
- Branchiootic syndrome 3 (SIX1)
- Brown-Vialetto-Van Laere syndrome 1 (SLC52A3)
- Brown-Vialetto-Van Laere syndrome 2 (SLC52A2)
- CATSHL [CAmptodactyly, Tall Stature, Hearing Loss] syndrome (FGFR3)
- 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 anomalies kidney/urinary tract syn. +/- hearing loss, abnormal ears, or dev. delay (PBX1)
- Congenital disorder of glycosylation, type IIj (COG4)
- Corneal endothelial dystrophy + perceptive deafness (SLC4A11)
- Cowchock syndrome (AIFM1)
- Craniofacial-deafness-hand syndrome (PAX3)
- Cryptophthalmos, unilateral/bilateral, isolated (FREM2)
- 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 119 (SPATA5L1)
- 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)
- Diamond Blackfan anemia 15 with mandibulofacial dysostosis (RPS28)
- Diets-Jongmans syndrome (KDM3B)
- Distal renal tubular acidosis 2 with progressive sensorineural hearing loss (ATP6V1B1)
- Duane-radial ray syndrome (SALL4)
- EVEN-plus syndrome: Epiphyseal + Vertebral changes, Ears + Nose hypoplasia (HSPA9)
- 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)
- Fraser syndrome 1: cryptophthalmos, syndactyly, abnormalities of resp. + urogen. tracts (FRAS1)
- Fraser syndrome 2: cryptophthalmos, syndactyly, abnormalities of resp. + urogen. tracts (FREM2)
- Fraser syndrome 3: cryptophthalmos, syndactyly, abnormalities of resp. + urogen. tracts (GRIP1)
- Hypokalemic tubulopathy + deafness (KCNJ16)
- 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)
- Joubert syndrome 10 (OFD1)
- Kabuki syndrome 1 (KMT2D)
- Kabuki syndrome 2 (KDM6A)
- Keratitis-ichthyosis-deafness syndrome (GJB2)
- Keratoderma, palmoplantar, with deafness (GJB2)
- Kilquist syndrome (SLC12A2)
- Klippel-Feil syndrome 1, AD (GDF6)
- LADD Lacrimo-auricolo-dento-digitalsyndrome (FGFR2)
- LADD LacrimoAuriculoDentoDigital syndrome (FGF10)
- LADD [LacrimoAuriculoDentoDigital] syndrome (FGFR3)
- Leukodystrophy, hypomyel., 23, ataxia, deafness, liver dysfunction, dilated cardiomyopathy (RNF220)
- Leukoencephalopathy, progressive, infantile-onset, with/-out deafness (KARS1)
- MEDNIK syndrome (AP1S1)
- Macrothrombocytopenia + granulocyte inclusions with/-out nephritis/sensorineural hearing loss (MYH9)
- Mandibulofacial dysostosis with alopecia (EDNRA)
- Mandibulofacial dysostosis, Guion-Almeida type (EFTUD2)
- Marshall syndrome (COL11A1)
- Meier-Gorlin syndrome 1 (ORC1)
- Meier-Gorlin syndrome 2 (ORC4)
- Meier-Gorlin syndrome 3 (ORC6)
- Meier-Gorlin syndrome 4 (CDT1)
- Meier-Gorlin syndrome 5 (CDC6)
- Microphthalmia, syndromic 3 (SOX2)
- Microphthalmia, syndromic 5 (OTX2)
- Microphthalmia, syndromic 6 (BMP4)
- Microtia with/-out hearing impairment, AD (HOXA2)
- Microtia, hearing impairment + cleft palate, AR (HOXA2)
- Miller syndrome (DHODH)
- Mohr-Tranebjaerg syndrome (TIMM8A)
- Muscular dystrophy, congenital hearing loss + ovarian insufficiency syndrome (GGPS1)
- Nephrotic syndrome, type 14 (SGPL1)
- Neurodevelopmental disorder with hearing loss + spasticity (SPATA5L1)
- Neurodevelopmental disorder with hypotonia, neuropathy + deafness (SPTBN4)
- Neuropathy, hereditary sensory, type IE (DNMT1)
- Non-syndromic hearing loss (USp48)
- Nonsyndromic genetic deafness [MONDO:0019497] (THOC)
- Nonsyndromic genetic deafness [MONDO:0019497] (USP48)
- Oculoauricular syndrome (HMX1)
- Optic atrophy plus syndrome (OPA1)
- Optic nerve hypoplasia + abnormalities of the central nervous system (SOX2)
- Orofacial cleft 11 (BMP4)
- Orofaciodigital syndrome I (OFD1)
- 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)
- Pituitary hormone deficiency, combined, 6 (OTX2)
- Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa + cataract (ABHD12)
- Profound sensorineural hearing loss [panelapp] (FOXF2)
- Retinal dystrophy, early-onset, with/-out pituitary dysfunction (OTX2)
- Robin sequence with cleft mandible + limb anomalies (EIF4A3)
- 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)
- Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities (GSC)
- Simpson-Golabi-Behmel syndrome, type 2 (OFD1)
- 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)
- Treacher Collins syndrome 1 (TCOF1)
- Treacher Collins syndrome 2 (POLR1D)
- Treacher Collins syndrome 3 (POLR1C)
- 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)
- -
- AD
- AR
- XL
- XLR
- digenisch
- Multiple OMIM-Ps
Bioinformatik und klinische Interpretation
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