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
0
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
0,0 kb (Core-/Core-canditate-Gene)
- (Erweitertes Panel: inkl. additional genes)
- (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
Keine Gene verlinkt
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)
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
C62.0
Bioinformatik und klinische Interpretation
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