Disease #02638

Official abbreviation meningioma
Name meningioma, familial, susceptibility to
OMIM ID 607174
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 64
Phenotype entries for this disease 64
Associated with 6 genes MN1, NF2, PDGFB, PTEN, SMARCE1, SUFU
Associated tissues -
Disease features -
Remarks -


Individuals

64 entries on 1 page. Showing entries 1 - 64.
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00091826 - - - M - - - - 0 - - meningioma - SMARCE1 SMARCE1 1 1 Beatrice Parfait
00091827 - - - F - - - - 0 - - meningioma - SMARCE1 SMARCE1 1 1 Beatrice Parfait
00091828 - - - M - - - - 0 - - meningioma - SMARCE1 SMARCE1 1 1 Beatrice Parfait
00174079 Family 1 : II9 PubMed: Christiaans I 2011 - F - - - - 0 - - meningioma 1 spinal SMARCB1 SMARCB1 1 1 Julia Lopez
00174080 II1, Fam4 PubMed: Smith MJ 2013 - F - - - - 0 - - meningioma clear cell; spinal SMARCE1 SMARCE1 1 1 Julia Lopez
00174081 I2, Fam1 PubMed: Smith MJ 2013 - F - - - - 0 - - meningioma clear cell; spinal SMARCE1 SMARCE1 1 1 Julia Lopez
00174082 II1, Fam2 PubMed: Smith MJ 2013 - F - - - - 0 - - meningioma clear cell; spinal SMARCE1 SMARCE1 1 1 Julia Lopez
00174083 - PubMed: Smith MJ 2014 - F - - - - 0 - - meningioma clear cell; spinal SMARCE1 SMARCE1 1 1 Julia Lopez
00174084 - PubMed: Smith MJ 2014 - F - - - - 0 - - meningioma clear cell; spinal/cranial SMARCE1 SMARCE1 1 1 Julia Lopez
00174085 - PubMed: Smith MJ 2014 - F - - - - 0 - - meningioma clear cell; spinal SMARCE1 SMARCE1 1 1 Julia Lopez
00174086 IV2 PubMed: Gerkes EH 2016 - M - - - - 0 - - meningioma clear cell meningeoma/ right cerebello-pontine angle SMARCE1 SMARCE1 1 1 Julia Lopez
00174087 II1, Fam3 PubMed: Smith MJ 2013 - M - - - - 0 - - meningioma clear cell; spinal SMARCE1 SMARCE1 1 1 Julia Lopez
00174088 II1, Fam4 PubMed: Smith MJ 2013 - F - - - - 0 - - meningioma clear cell; spinal SMARCE1 SMARCE1 1 1 Julia Lopez
00174089 - PubMed: Smith MJ 2014 - M - - - - 0 - - meningioma clear cell; spinal SMARCE1 SMARCE1 1 1 Julia Lopez
00174090 Family 1 : III1 PubMed: Christiaans I 2011 - F - - - - 0 - - meningioma 1 spinal SMARCB1 SMARCB1 1 1 Julia Lopez
00174091 Family 1 : III6 PubMed: Christiaans I 2011 - F - - - - 0 - - meningioma psammomatous; spinal SMARCB1 SMARCB1 1 1 Julia Lopez
00174092 Fam2 PubMed: Melean G 2012 - F - - - - 0 - - meningioma 1 cranial SMARCB1 SMARCB1 1 1 Julia Lopez
00174093 Family 4 PubMed: Bacci C 2010 - F - - - - 0 - - meningioma 4 cranial SMARCB1 SMARCB1 1 1 Julia Lopez
00174094 I2, Fam2 PubMed: Smith MJ 2013 - F - - - - 0 - - meningioma clear cell; spinal SMARCE1 SMARCE1 1 1 Julia Lopez
00174095 II1, Fam2 PubMed: Smith MJ 2013 - F - - - - 0 - - meningioma clear cell; spinal SMARCE1 SMARCE1 1 1 Julia Lopez
00174096 - PubMed: Smith MJ 2014 - F - - - - 0 - - meningioma clear cell; spinal/cranial SMARCE1 SMARCE1 1 1 Julia Lopez
00174097 - PubMed: Smith MJ 2014 - F - - - - 0 - - meningioma clear cell; cranial SMARCE1 SMARCE1 1 1 Julia Lopez
00174355 II6 PubMed: Christiaans I 2011 - M - - - - 0 - - meningioma meningeoma multiple spinal, schwannoma vestibular SMARCB1 SMARCB1 1 1 Julia Lopez
00174356 III12 PubMed: van den Munckhof P 2012 - F - - - - 0 - - meningioma, SWNTS , 1 spinal, 1 falx SMARCB1 SMARCB1 1 1 Julia Lopez
00174357 III15 PubMed: van den Munckhof P 2012 - F - - - - 0 - - meningioma, SWNTS , NC SMARCB1 SMARCB1 1 1 Julia Lopez
00174358 III16 PubMed: van den Munckhof P 2012 - M - - - - 0 - - meningioma, SWNTS , 1 falx SMARCB1 SMARCB1 1 1 Julia Lopez
00174359 Fam1 PubMed: Melean G 2012 - M - - - - 0 - - meningioma, SWNTS (fibroblastic) spinal, schwannoma: 2 spinal, 1 mandibular, multiple subcutaneous SMARCB1 SMARCB1 1 1 Julia Lopez
00174360 - PubMed: Bacci C 2010 - M - - - - 0 - - meningioma, SWNTS 2 spinal, 1 abdominal, cranial SMARCB1 SMARCB1 1 1 Julia Lopez
00174361 - PubMed: Bacci C 2010 - M - - - - 0 - - meningioma, SWNTS , multiple sites incl. IC SMARCB1 SMARCB1 1 1 Julia Lopez
00174363 - PubMed: Rousseau G 2011 - M - - - - 0 - - meningioma, SWNTS , multiple schwannomas and meningeomas SMARCB1 SMARCB1 1 1 Julia Lopez
00174364 III17 PubMed: van den Munckhof P 2012 - F - - - - 0 - - meningioma, SWNTS , 1 falx SMARCB1 SMARCB1 1 1 Julia Lopez
00174365 IV2 PubMed: van den Munckhof P 2012 - M - - - - 0 - - meningioma, SWNTS , 3 spinal SMARCB1 SMARCB1 1 1 Julia Lopez
00174366 IV4 PubMed: van den Munckhof P 2012 - M - - - - 0 - - meningioma, SWNTS , 1 falx SMARCB1 SMARCB1 1 1 Julia Lopez
00174367 III7 PubMed: Christiaans I 2011 - F - - - - 0 - - meningioma 1 spinal, multiple cranial, schwannoma multiple: spinal, chest wall, elbow; (transitional/mixed cranial, fibroblastic SMARCB1 SMARCB1 1 1 Julia Lopez
00174368 II3 PubMed: van den Munckhof P 2012 - M - - - - 0 - - meningioma, SWNTS , 1 spinal, 3 falx SMARCB1 SMARCB1 1 1 Julia Lopez
00174369 III1 PubMed: van den Munckhof P 2012 - M - - - - 0 - - meningioma, SWNTS , 1 falx SMARCB1 SMARCB1 1 1 Julia Lopez
00174370 III7 PubMed: van den Munckhof P 2012 - F - - - - 0 - - meningioma, SWNTS , 1 spinal, 1 falx SMARCB1 SMARCB1 1 1 Julia Lopez
00174371 III10 PubMed: van den Munckhof P 2012 - M - - - - 0 - - meningioma, SWNTS , NC SMARCB1 SMARCB1 1 1 Julia Lopez
00240476 - - - M ? Croatia (Hrvatska) Caucasian 72y 0 - none meningioma ORPHA:2495 meningioma TP53 TP53 1 1 Anja Bukovac
00240477 - - - F ? Croatia (Hrvatska) Caucasian >54y 0 - - meningioma ORPHA:2495 meningioma TP53 TP53 1 1 Anja Bukovac
00240478 - - - F ? (Croatia (Hrvatska)) Caucasian >54y 0 - - meningioma ORPHA:2495 meningioma TP53 TP53 1 1 Anja Bukovac
00240480 - - - M ? (Croatia (Hrvatska)) Caucasian 65y 0 - - meningioma ORPHA:2495 meningioma TP53 TP53 2 1 Anja Bukovac
00240482 - - - F ? Croatia (Hrvatska) Caucasian 55y 0 - - meningioma ORPHA:2495 meningioma TP53 TP53 1 1 Anja Bukovac
00240483 - - - F ? Croatia (Hrvatska) caucasian 47y 0 - - meningioma ORPHA:2495 meningioma TP53 TP53 1 1 Anja Bukovac
00240485 - - - F ? (Croatia (Hrvatska)) - 62y 0 - - meningioma ORPHA:2495 meningioma TP53 TP53 3 1 Anja Bukovac
00240488 - - - M ? Croatia (Hrvatska) caucasian 71y 0 - - meningioma ORPHA:2495 meningioma TP53 TP53 4 1 Anja Bukovac
00240493 - - - M ? Croatia (Hrvatska) Caucasian 40y 0 - - meningioma ORPHA:2495 meningioma TP53 TP53 5 1 Anja Bukovac
00240498 - - - F - Croatia (Hrvatska) Caucasian 63y 0 - - meningioma ORPHA:2495 meningioma TP53 TP53 4 1 Anja Bukovac
00240502 - - - M - - Caucasian 62y 0 - - meningioma ORPHA:2495 meningioma TP53 TP53 2 1 Anja Bukovac
00240504 - - - F - Croatia (Hrvatska) - 67y 0 - - meningioma ORPHA:2495 meningioma TP53 TP53 2 1 Anja Bukovac
00241235 - - - F - Croatia (Hrvatska) Caucasian 63y 0 - - meningioma ORPHA:2495 meningioma TP53 TP53 3 1 Anja Bukovac
00241239 - - - F ? (Croatia (Hrvatska)) Caucasian 74y 0 - - meningioma ORPHA:2495 meningioma TP53 TP53 1 1 Anja Bukovac
00241241 - - - M ? (Croatia (Hrvatska)) caucasian 45y 0 - - meningioma ORPHA:2495 meningioma TP53 TP53 2 1 Anja Bukovac
00241242 - - - F ? (Croatia (Hrvatska)) Caucasian 74y 0 - - meningioma ORPHA:2495 meningioma TP53 TP53 2 1 Anja Bukovac
00241244 - - - M ? Croatia (Hrvatska) Caucasian 75y 0 - - meningioma ORPHA:2495 meningioma TP53 TP53 1 1 Anja Bukovac
00241246 - - - M ? Croatia (Hrvatska) - 32y 0 - - meningioma ORPHA:2495 meningioma TP53 TP53 1 1 Anja Bukovac
00241248 - - - M ? Croatia (Hrvatska) caucasian 77y 0 - - meningioma ORPHA:2495 meningioma TP53 TP53 1 1 Anja Bukovac
00241251 - - - F ? Croatia (Hrvatska) - 71y 0 - - meningioma ORPHA:2495 meningioma TP53 TP53 1 1 Anja Bukovac
00241253 - - - F ? Croatia (Hrvatska) caucasian 64y 0 - - meningioma ORPHA:2495 meningioma TP53 TP53 2 1 Anja Bukovac
00241255 - - - F ? Croatia (Hrvatska) - - 0 - - meningioma ORPHA:2495 meningioma TP53 TP53 4 1 Anja Bukovac
00241257 - - - F ? Croatia (Hrvatska) caucasian 73y 0 - - meningioma ORPHA:2495 meningioma TP53 TP53 1 1 Anja Bukovac
00241259 - - - F ? Croatia (Hrvatska) - 67y 0 - - meningioma ORPHA:2495 meningioma TP53 TP53 2 1 Anja Bukovac
00241260 - - - F ? Croatia (Hrvatska) - 79y 0 - - meningioma ORPHA:2495 meningioma TP53 TP53 1 1 Anja Bukovac
00241261 - - - F - Croatia (Hrvatska) - 61y 0 - - meningioma ORPHA:2495 meningioma TP53 TP53 2 1 Anja Bukovac
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