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GenetischePanel-Diagnostik

ErkrankungHörstörungen bei (Ohr-)Fehlbildungen

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Hörstörungen bei (Ohr-)Fehlbildungen mit 43 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
HP2266
Anzahl Gene
43 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
0,0 kb (Core-/Basis-Gene)
121,3 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
BMP41227AD
CDC61683AR
CDT11641AR
CHD78994AD
DHODH1188AR
EDNRA1284AD und/oder Mult
EFTUD22919AD
EIF4A31236AR
EYA11779AD
FGF10627AD
FGF3720AR
FGFR22466AD und/oder Sus
FGFR32421AD und/oder AR und/oder SMu
FRAS112039AR
FREM29510AR
GDF61368AD und/oder AR
GNAI31065AD
GRIP13231AR
GSC774AR
HMX11047AR
HOXA21131AD und/oder AR
HSPA92040AD und/oder AR
KDM6A4206XLD
KMT2D16614AD und/oder SMu und/oder Sus
OFD13039XL
ORC12586AR
ORC41311AR
ORC6759AR
OTX2870AD
PLCB43585AD und/oder AR
POLR1A5197
  • Keine OMIM-Gs verknüpft
AD
POLR1C1041AR
POLR1D402AD und/oder AR
RPS28210AD
SALL13975AD
SALL43162AD
SF3B41275AD
SIX1855AD
SIX52220AD
SLC26A42343AR und/oder Dig
SOX101401AD
TCOF14467AD
TFAP2A1296AD

Infos zur Erkrankung

Synonyme
  • Acrofacial dysostosis 1, Nager type (SF3B4)
  • Acrofacial dysostosis, Cincinnati type (POLR1A)
  • Alias: Ear malformations with hearing impairment
  • Alias: Microtia
  • Alias: Schwerhörigkeit, Hörverlust
  • 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: Apert syndrome (FGFR2)
  • Allelic: Aplasia of lacrimal and salivary glands (FGF10)
  • Allelic: Beare-Stevenson cutis gyrata syndrome (FGFR2)
  • Allelic: Bent bone dysplasia syndrome (FGFR2)
  • Allelic: Bladder cancer, somatic (FGFR3)
  • Allelic: CATSHL syndrome (FGFR3)
  • Allelic: Cervical cancer, somatic (FGFR3)
  • Allelic: Colorectal cancer, somatic (FGFR3)
  • Allelic: Craniofacial-skeletal-dermatologic dysplasia (FGFR2)
  • Allelic: Craniosynostosis, nonspecific (FGFR2)
  • Allelic: Crouzon syndrome (FGFR2)
  • Allelic: Crouzon syndrome with acanthosis nigricans (FGFR3)
  • Allelic: Cryptophthalmos, unilateral or bilateral, isolated (FREM2)
  • Allelic: Duane-radial ray syndrome (SALL4)
  • Allelic: Gastric cancer, somatic (FGFR2)
  • Allelic: Hypochondroplasia (FGFR3)
  • Allelic: Hypogonadotropic hypogonadism 5 with/-out anosmia (CHD7)
  • Allelic: Jackson-Weiss syndrome (FGFR2)
  • Allelic: Leber congenital amaurosis 17 (GDF6)
  • Allelic: Leukodystrophy, hypomyelinating, 11 (POLR1C)
  • Allelic: Microphthalmia with coloboma 6, digenic (GDF6)
  • Allelic: Microphthalmia, isolated 4 (GDF6)
  • Allelic: Migraine, resistance to (EDNRA)
  • Allelic: Muenke syndrome (FGFR3)
  • Allelic: Multiple synostoses syndrome 4 (GDF6)
  • Allelic: Nevus, epidermal, somatic (FGFR3)
  • Allelic: PCWH syndrome (SOX10)
  • Allelic: Pfeiffer syndrome (FGFR2)
  • Allelic: Retinal dystrophy, early-onset, with/-out pituitary dysfunction (OTX2)
  • Allelic: Retinitis pigmentosa 23 (OFD1)
  • Allelic: SADDAN (FGFR3)
  • Allelic: Saethre-Chotzen syndrome (FGFR2)
  • Allelic: Scaphocephaly + Axenfeld-Rieger anomaly (FGFR2)
  • Allelic: Scaphocephaly, maxillary retrusion + mental retardation (FGFR2)
  • Allelic: Spermatocytic seminoma, somatic (FGFR3)
  • Allelic: Thanatophoric dysplasia, type I + II (FGFR3)
  • Auriculocondylar syndrome 1 (GNAI3)
  • Auriculocondylar syndrome 2 (PLCB4)
  • Branchiooculofacial syndrome (TFAP2A)
  • Branchiootic syndrome 1 (EYA1)
  • Branchiootic syndrome 3 (SIX1)
  • Branchiootorenal syndrome 1, with/-out cataracts (EYA1)
  • Branchiootorenal syndrome 2 (SIX5)
  • CHARGE syndrome (CHD7)
  • Deafness, AD 23 (SIX1)
  • Deafness, AR 4, with enlarged vestibular aqueduct (SLC26A4)
  • Deafness, congenital with inner ear agenesis, microtia + microdontia (FGF3)
  • Diamond Blackfan anemia 15 with mandibulofacial dysostosis (RPS28)
  • Ear malformations with hearing impairment (CDT1)
  • Even-plus syndrome (HSPA9)
  • Fraser syndrome 1 (FRAS1)
  • Fraser syndrome 2 (FREM2)
  • Fraser syndrome 3 (GRIP1)
  • IVIC syndrome (SALL4)
  • Joubert syndrome 10 (OFD1)
  • Kabuki syndrome 1 (KMT2D)
  • Kabuki syndrome 2 (KDM6A)
  • Klippel-Feil syndrome 1, AD (GDF6)
  • LADD syndrome (FGF10, FGFR2, FGFR3)
  • Mandibulofacial dysostosis with alopecia (EDNRA)
  • Mandibulofacial dysostosis, Guion-Almeida type (EFTUD2)
  • Meier-Gorlin syndrome 1 (ORC1)
  • Meier-Gorlin syndrome 2 (ORC4)
  • Meier-Gorlin syndrome 3 (ORC6)
  • Meier-Gorlin syndrome 5 (CDC6)
  • 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)
  • Oculoauricular syndrome (HMX1)
  • Orofacial cleft 11 (BMP4)
  • Orofaciodigital syndrome I (OFD1)
  • Otofaciocervical syndrome (EYA1)
  • Pendred syndrome (SLC27A4)
  • Pituitary hormone deficiency, combined, 6 (OTX2)
  • Robin sequence with cleft mandible + limb anomalies (EIF4A3)
  • Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities (GSC)
  • Simpson-Golabi-Behmel syndrome, type 2 (OFD1)
  • 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)
  • Waardenburg syndrome, type 2E, with/-out neurologic involvement (SOX10)
  • Waardenburg syndrome, type 4C (SOX10)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder SMu
  • AD und/oder Mult
  • AD und/oder SMu und/oder Sus
  • AD und/oder Sus
  • AR
  • AR und/oder Dig
  • XL
  • XLD
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
H90.-

Bioinformatik und klinische Interpretation

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