ErkrankungMultiple endokrine Tumore, Differentialdiagnose

NGS +

[Sanger]

siehe ORPHA:573163 (Gruppe von Erkrankungen)

Neuroendokrine Tumore: Paragangliome kommen in allen Paraganglien von der Schädelbasis bis zum Beckenboden vor, Phäochromozytome (Nebennierenmark-Paragangliome)

• 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)