ErkrankungMultiple endokrine Tumore, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Multiple endokrine Tumore mit 1 Leitlinien-kuratierten und 15 bzw. zusammen genommen 17 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
PP0930
Anzahl Gene
17
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
16,9 kb (Core-/Basis-Gene)
21,4 kb (Erweitertes Panel)
21,4 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
[Sanger]
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
AIP | 993 | AD und/oder Sus | |
CDC73 | 1596 | AD und/oder Sus | |
CDKN1B | 597 | AD und/oder Sus | |
MAX | 483 | AD und/oder Sus | |
MEN1 | 1833 | AD und/oder Sus | |
PRKAR1A | 1146 | AD und/oder Sus | |
RET | 3345 | AD und/oder Dig und/oder Sus | |
SDHA | 1995 | AD und/oder AR und/oder Sus | |
SDHAF2 | 501 | AD und/oder Sus | |
SDHB | 843 | AD und/oder Sus | |
SDHC | 510 | AD und/oder Sus | |
SDHD | 480 | AD und/oder AR und/oder Sus | |
TMEM127 | 717 | AD und/oder Sus | |
TP53 | 1182 | AD und/oder SMu und/oder Sus | |
VHL | 642 | AD und/oder AR und/oder SMu und/oder Sus | |
CASR | 3237 | AD und/oder AR | |
PTEN | 1212 | AD und/oder SMu und/oder Sus |
Infos zur Erkrankung
Klinischer Kommentar
siehe ORPHA:573163 (Gruppe von Erkrankungen)
Neuroendokrine Tumore: Paragangliome kommen in allen Paraganglien von der Schädelbasis bis zum Beckenboden vor, Phäochromozytome (Nebennierenmark-Paragangliome)
Synonyme
- Alias: Adenomatosis, familial endocrine
- Alias: Endocrine neoplasia, multiple
- Alias: Familial endocrine adenomatosis
- Alias: MEN
- Alias: Multiple endocrine adenomatosis
- Alias: Multiple endocrine neoplasms
- Allelic: Acrodysostosis 1, with/-out hormone resistance (PRKAR1A)
- Allelic: Angiofibroma, somatic (MEN1)
- Allelic: Basal cell carcinoma 7 (TP53)
- Allelic: Bone marrow failure syndrome 5 (TP53)
- Allelic: Breast cancer, somatic (TP53)
- Allelic: Cardiomyopathy, dilated, 1GG (SDHA)
- Allelic: Central hypoventilation syndrome, congenital (RET)
- Allelic: Choroid plexus papilloma (TP53)
- Allelic: Colorectal cancer (TP53)
- Allelic: Epilepsy idiopathic generalized, susceptibility to (CASR)
- Allelic: Erythrocytosis, familial, 2 (VHL)
- Allelic: Gastrointestinal stromal tumor (SDHB, SDHC)
- Allelic: Glioma susceptibility 1 (TP53)
- Allelic: Glioma susceptibility 2 (PTEN)
- Allelic: Hemangioblastoma, cerebellar, somatic (VHL)
- Allelic: Hepatocellular carcinoma, somatic (TP53)
- Allelic: Hirschsprung disease, protection against + susceptibility to, 1 (RET)
- Allelic: Hypocalcemia, AD (CASR)
- Allelic: Hypocalcemia, AD, with Bartter syndrome (CASR)
- Allelic: Hypocalciuric hypercalcemia, type I (CASR)
- Allelic: Leigh syndrome (SDHA)
- Allelic: Lipoma, somatic (MEN1)
- Allelic: Macrocephaly
- Allelic: Meningioma (PTEN)
- Allelic: Mitochondrial respiratory chain complex II deficiency (SDHA, SDHD)
- Allelic: Myxoma, intracardiac (PRKAR1A)
- Allelic: Nasopharyngeal carcinoma, somatic (TP53)
- Allelic: Osteosarcoma (TP53)
- Allelic: Pancreatic cancer, somatic (TP53)
- Allelic: Renal cell carcinoma, somatic (VHL)
- Adrenal adenoma, somatic (MEN1)
- Adrenocortical carcinoma, pediatric (TP53)
- Adrenocortical tumor, somatic (PRKAR1A)
- Carcinoid tumor of lung (MEN1)
- Carney complex, type 1 (PRKAR1A)
- Cowden syndrome 1 (PTEN)
- Fumarase deficiency (FH)
- Hyperparathyroidism, familial primary (CDC73)
- Hyperparathyroidism, neonatal (CASR)
- Hyperparathyroidism-jaw tumor syndrome (CDC73)
- Leiomyomatosis + renal cell cancer (FH)
- Lhermitte-Duclos syndrome (PTEN)
- Li-Fraumeni syndrome (TP53)
- Medullary thyroid carcinoma (RET)
- Multiple endocrine neoplasia I (MEN1)
- Multiple endocrine neoplasia IIA + IIB (RET)
- Multiple endocrine neoplasia IV (CDKN1B)
- Neuroendocrine cancer [panelapp] (FH)
- Paraganglioma + gastric stromal sarcoma (SDHB, SDHC, SDHD)
- Paragangliomas 1, with/-out deafness (SDHD)
- Paragangliomas 2 (SDHAF2)
- Paragangliomas 3 (SDHC)
- Paragangliomas 4 (SDHB)
- Paragangliomas 5 (SDHA)
- Parathyroid adenoma with cystic changes (CDC73)
- Parathyroid adenoma, somatic (MEN1)
- Parathyroid carcinoma (CDC73)
- Pheochromocytoma (RET, SDHB, SDHD, VHL)
- Pheochromocytoma, susceptibility to (MAX, TMEM127)
- Pigmented nodular adrenocortical disease, primary, 1 (PRKAR1A)
- Pituitary adenoma 1, multiple types (AIP)
- Pituitary adenoma predisposition (AIP)
- Von Hippel-Lindau syndrome (VHL)
- autism syndrome (PTEN)
Erbgänge, Vererbungsmuster etc.
- AD und/oder AR
- AD und/oder AR und/oder SMu und/oder Sus
- AD und/oder AR und/oder Sus
- AD und/oder Dig und/oder Sus
- AD und/oder SMu und/oder Sus
- AD und/oder Sus
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
C74.-
Bioinformatik und klinische Interpretation
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