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Klinische FragestellungHodenhochstand, Differentialdiagnose

Zusammenfassung

Kurzinformation

Ein umfassendes differentialdiagnostisches panel mit 3 Leitlinien-kuratierten und insgesamt 36 kuratierten Genen gemäß klinischem Verdacht

ID
HP6541
Anzahl Gene
11 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
4,9 kb (Core-/Core-canditate-Gene)
27,8 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Untersuchungsmaterial
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GReferenz-Seq.Erbgang
ANOS12043NM_000216.4XLR
AR2763NM_000044.6XLR
CHD78994NM_017780.4AD
FGFR12469NM_023110.3Ass
GNRHR987NM_000406.3AR
MYH75808NM_000257.4n.k.
NR5A11386NM_004959.5AD, AR
PROK2390NM_001126128.2n.k.
PROKR21155NM_144773.4n.k.
TAC3366NM_013251.4AR
TACR31398NM_001059.3AR

Infos zur Erkrankung

Synonyme
  • Alias: Ectopic testis
  • Alias: Hoden-Dystopie
  • Alias: Kryptorchismus
  • Alias: Nondescensus testis
  • Alias: Undescended testis
  • Allelic: 46XX sex reversal 1 (SRY)
  • Allelic: 46XX sex reversal 4 (NR5A1)
  • Allelic: Luteinizing hormone resistance, female (LHCGR)
  • Allelic: Mullerian aplasia + hyperandrogenism (WNT4)
  • Allelic: Nephrotic syndrome, type 4 (WT1)
  • Allelic: Precocious puberty, male (LHCGR)
  • Allelic: Premature ovarian failure 7 (NR5A1)
  • Allelic: Prostate cancer, susceptibility to (AR)
  • Allelic: Retentio testis
  • 46XY disorder of sex development [MONDO:0020040] (ESR2)
  • 46XY gonadal dysgenesis with minifascicular neuropathy (DHH)
  • 46XY sex reversal 1 (SRY)
  • 46XY sex reversal 11 (DHX37)
  • 46XY sex reversal 2, dosage-sensitive (NR0B1)
  • 46XY sex reversal 3 (NR5A1)
  • 46XY sex reversal 5 (CBX2)
  • 46XY sex reversal 6 (MAP3K1)
  • 46XY sex reversal 7 (DHH)
  • 46XY sex reversal 9 (ZFPM2)
  • Acampomelic campomelic dysplasia (SOX9)
  • Adrenal hypoplasia, congenital (NR0B1)
  • Adrenocortical insufficiency (NR5A1)
  • Alpha-thalassemia/mental retardation syndrome (ATRX)
  • Androgen insensitivity (AR)
  • Androgen insensitivity, partial, with/-out breast cancer (AR)
  • Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (FGFR2)
  • Apert syndrome (FGFR2)
  • Atrial septal defect 2 (GATA4)
  • Atrioventricular septal defect 4 (GATA4)
  • Beare-Stevenson cutis gyrata syndrome (FGFR2)
  • Bent bone dysplasia syndrome (FGFR2)
  • Brachydactyly, type D (HOXD13)
  • Brachydactyly, type E (HOXD13)
  • Brachydactyly-syndactyly syndrome (HOXD13)
  • CHARGE syndrome (CHD7)
  • Campomelic dysplasia (SOX9)
  • Campomelic dysplasia with autosomal sex reversal (SOX9)
  • Cardiomyopathy, dilated, 1S (MYH7)
  • Cardiomyopathy, hypertrophic, 1 (MYH7)
  • Caudal duplication anomaly (AXIN1)
  • Craniofacial-skeletal-dermatologic dysplasia (FGFR2)
  • Craniosynostosis, nonspecific (FGFR2)
  • Crouzon syndrome (FGFR2)
  • Cryptorchidism (INSL3)
  • Cryptorchidism, familial bilateral [LIT.] (RXFP2)
  • Cryptorchidism, nonsyndromic; association [LIT.] (TGFBR3)
  • Denys-Drash syndrome (WT1)
  • Developmental + epileptic encephalopathy 1 (ARX)
  • Diaphragmatic hernia 3 (ZFPM2)
  • Disorder of sex development [panelapp] (DMRT1)
  • Frasier syndrome (WT1)
  • Hartsfield syndrome (FGFR1)
  • Hydranencephaly with abnormal genitalia (ARX)
  • Hypogonadotropic hypogonadism 1 with/-out anosmia, Kallmann syndrome 1 (ANOS1)
  • Hypogonadotropic hypogonadism 10 with/-out anosmia (TAC3)
  • Hypogonadotropic hypogonadism 11 with/-out anosmia (TACR3)
  • Hypogonadotropic hypogonadism 2 with/-out anosmia (FGFR1)
  • Hypogonadotropic hypogonadism 3 with/-out anosmia (PROKR2)
  • Hypogonadotropic hypogonadism 4 with/-out anosmia (PROK2)
  • Hypogonadotropic hypogonadism 5 with/-out anosmia (CHD7)
  • Hypogonadotropic hypogonadism 7 without anosmia (GNHRH)
  • Hypospadias 1, XL (AR)
  • Intellectual developmental disorder, XL 29 (ARX)
  • Jackson-Weiss syndrome (FGFR1)
  • Jackson-Weiss syndrome (FGFR2)
  • LADD syndrome (FGFR2)
  • Laing distal myopathy (MYH7)
  • Left ventricular noncompaction 5 (MYH7)
  • Leydig cell hypoplasia with hypergonadotropic hypogonadism (LHCGR)
  • Leydig cell hypoplasia with pseudohermaphroditism (LHCGR)
  • Lissencephaly, XL 2 (ARX)
  • Meacham syndrome (WT1)
  • Mental retardation-hypotonic facies syndrome, XL (ATRX)
  • Myopathy, myosin storage, AD or AR (MYH7)
  • Neurodevelopmental disorder with brain anomalies with/-out vertebral or cardiac anomalies (DHX37)
  • Nivelon-Nivelon-Mabille syndrome (HHAT)
  • Osteoglophonic dysplasia (FGFR1)
  • Partington syndrome (ARX)
  • Persistent Mullerian duct syndrome, type I (AMH)
  • Persistent Mullerian duct syndrome, type II (AMHR2)
  • Pfeiffer syndrome (FGFR1)
  • Pfeiffer syndrome (FGFR2)
  • Proud syndrome (ARX)
  • SERKAL syndrome [46XX SEx Reversal + dysgenesis of Kidney, Adrenals + Lungs] (WNT4)
  • Saethre-Chotzen syndrome (FGFR2)
  • Scaphocephaly and Axenfeld-Rieger anomaly (FGFR2)
  • Scaphocephaly, maxillary retrusion + mental retardation (FGFR2)
  • Scapuloperoneal syndrome, myopathic type (MYH7)
  • Schizencephaly (EMX2)
  • Spermatogenic failure 8 (NR5A1)
  • Spinal + bulbar muscular atrophy of Kennedy (AR)
  • Sudden infant death with dysgenesis of the testes syndrome (TSPYL1)
  • Syndactyly, type V (HOXD13)
  • Synpolydactyly 1 (HOXD13)
  • Testicular anomalies with/-out congenital heart disease (GATA4)
  • Tetralogy of Fallot (GATA4)
  • Tetralogy of Fallot (ZFPM2)
  • Trigonocephaly (FGFR1)
  • Ventricular septal defect 1 (GATA4)
  • Wilms tumor, type 1 (WT1)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AR
  • Ass
  • XLR
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatik und klinische Interpretation

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