Disease #02638 (meningioma (meningioma, familial, susceptibility to), OMIM:607174)

Official abbreviation meningioma
Name meningioma, familial, susceptibility to
OMIM ID 607174
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 65
Phenotype entries for this disease 65
Associated with 6 genes MN1, NF2, PDGFB, PTEN, SMARCE1, SUFU
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2019-12-26 15:18:15 +01:00 (CET)


Individuals

65 entries on 1 page. Showing entries 1 - 65.
Legend   How to query  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00091826 - - - M - - - - - - - meningioma - SMARCE1 SMARCE1 1 1 Beatrice Parfait
00091827 - - - F - - - - - - - meningioma - SMARCE1 SMARCE1 1 1 Beatrice Parfait
00091828 - - - M - - - - - - - meningioma - SMARCE1 SMARCE1 1 1 Beatrice Parfait
00174079 Family 1 : II9 PubMed: Christiaans I 2011 - F - - - - - - - meningioma 1 spinal SMARCB1 SMARCB1 1 1 Julia Lopez
00174080 II1, Fam4 PubMed: Smith MJ 2013 - F - - - - - - - meningioma clear cell; spinal SMARCE1 SMARCE1 1 1 Julia Lopez
00174081 I2, Fam1 PubMed: Smith MJ 2013 - F - - - - - - - meningioma clear cell; spinal SMARCE1 SMARCE1 1 1 Julia Lopez
00174082 II1, Fam2 PubMed: Smith MJ 2013 - F - - - - - - - meningioma clear cell; spinal SMARCE1 SMARCE1 1 1 Julia Lopez
00174083 - PubMed: Smith MJ 2014 - F - - - - - - - meningioma clear cell; spinal SMARCE1 SMARCE1 1 1 Julia Lopez
00174084 - PubMed: Smith MJ 2014 - F - - - - - - - meningioma clear cell; spinal/cranial SMARCE1 SMARCE1 1 1 Julia Lopez
00174085 - PubMed: Smith MJ 2014 - F - - - - - - - meningioma clear cell; spinal SMARCE1 SMARCE1 1 1 Julia Lopez
00174086 IV2 PubMed: Gerkes EH 2016 - M - - - - - - - meningioma clear cell meningeoma/ right cerebello-pontine angle SMARCE1 SMARCE1 1 1 Julia Lopez
00174087 II1, Fam3 PubMed: Smith MJ 2013 - M - - - - - - - meningioma clear cell; spinal SMARCE1 SMARCE1 1 1 Julia Lopez
00174088 II1, Fam4 PubMed: Smith MJ 2013 - F - - - - - - - meningioma clear cell; spinal SMARCE1 SMARCE1 1 1 Julia Lopez
00174089 - PubMed: Smith MJ 2014 - M - - - - - - - meningioma clear cell; spinal SMARCE1 SMARCE1 1 1 Julia Lopez
00174090 Family 1 : III1 PubMed: Christiaans I 2011 - F - - - - - - - meningioma 1 spinal SMARCB1 SMARCB1 1 1 Julia Lopez
00174091 Family 1 : III6 PubMed: Christiaans I 2011 - F - - - - - - - meningioma psammomatous; spinal SMARCB1 SMARCB1 1 1 Julia Lopez
00174092 Fam2 PubMed: Melean G 2012 - F - - - - - - - meningioma 1 cranial SMARCB1 SMARCB1 1 1 Julia Lopez
00174093 Family 4 PubMed: Bacci C 2010 - F - - - - - - - meningioma 4 cranial SMARCB1 SMARCB1 1 1 Julia Lopez
00174094 I2, Fam2 PubMed: Smith MJ 2013 - F - - - - - - - meningioma clear cell; spinal SMARCE1 SMARCE1 1 1 Julia Lopez
00174095 II1, Fam2 PubMed: Smith MJ 2013 - F - - - - - - - meningioma clear cell; spinal SMARCE1 SMARCE1 1 1 Julia Lopez
00174096 - PubMed: Smith MJ 2014 - F - - - - - - - meningioma clear cell; spinal/cranial SMARCE1 SMARCE1 1 1 Julia Lopez
00174097 - PubMed: Smith MJ 2014 - F - - - - - - - meningioma clear cell; cranial SMARCE1 SMARCE1 1 1 Julia Lopez
00174355 II6 PubMed: Christiaans I 2011 - M - - - - - - - meningioma meningeoma multiple spinal, schwannoma vestibular SMARCB1 SMARCB1 1 1 Julia Lopez
00174356 III12 PubMed: van den Munckhof P 2012 - F - - - - - - - meningioma, SWNTS , 1 spinal, 1 falx SMARCB1 SMARCB1 1 1 Julia Lopez
00174357 III15 PubMed: van den Munckhof P 2012 - F - - - - - - - meningioma, SWNTS , NC SMARCB1 SMARCB1 1 1 Julia Lopez
00174358 III16 PubMed: van den Munckhof P 2012 - M - - - - - - - meningioma, SWNTS , 1 falx SMARCB1 SMARCB1 1 1 Julia Lopez
00174359 Fam1 PubMed: Melean G 2012 - M - - - - - - - meningioma, SWNTS (fibroblastic) spinal, schwannoma: 2 spinal, 1 mandibular, multiple subcutaneous SMARCB1 SMARCB1 1 1 Julia Lopez
00174360 - PubMed: Bacci C 2010 - M - - - - - - - meningioma, SWNTS 2 spinal, 1 abdominal, cranial SMARCB1 SMARCB1 1 1 Julia Lopez
00174361 - PubMed: Bacci C 2010 - M - - - - - - - meningioma, SWNTS , multiple sites incl. IC SMARCB1 SMARCB1 1 1 Julia Lopez
00174363 - PubMed: Rousseau G 2011 - M - - - - - - - meningioma, SWNTS , multiple schwannomas and meningeomas SMARCB1 SMARCB1 1 1 Julia Lopez
00174364 III17 PubMed: van den Munckhof P 2012 - F - - - - - - - meningioma, SWNTS , 1 falx SMARCB1 SMARCB1 1 1 Julia Lopez
00174365 IV2 PubMed: van den Munckhof P 2012 - M - - - - - - - meningioma, SWNTS , 3 spinal SMARCB1 SMARCB1 1 1 Julia Lopez
00174366 IV4 PubMed: van den Munckhof P 2012 - M - - - - - - - meningioma, SWNTS , 1 falx SMARCB1 SMARCB1 1 1 Julia Lopez
00174367 III7 PubMed: Christiaans I 2011 - F - - - - - - - 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 - - - - - - - meningioma, SWNTS , 1 spinal, 3 falx SMARCB1 SMARCB1 1 1 Julia Lopez
00174369 III1 PubMed: van den Munckhof P 2012 - M - - - - - - - meningioma, SWNTS , 1 falx SMARCB1 SMARCB1 1 1 Julia Lopez
00174370 III7 PubMed: van den Munckhof P 2012 - F - - - - - - - meningioma, SWNTS , 1 spinal, 1 falx SMARCB1 SMARCB1 1 1 Julia Lopez
00174371 III10 PubMed: van den Munckhof P 2012 - M - - - - - - - meningioma, SWNTS , NC SMARCB1 SMARCB1 1 1 Julia Lopez
00240476 - - - M ? Croatia (Hrvatska) white 72y - - none meningioma ORPHA:2495 meningioma TP53 TP53 1 1 Anja Bukovac
00240477 - - - F ? Croatia (Hrvatska) white >54y - - - meningioma ORPHA:2495 meningioma TP53 TP53 1 1 Anja Bukovac
00240478 - - - F ? (Croatia (Hrvatska)) white >54y - - - meningioma ORPHA:2495 meningioma TP53 TP53 1 1 Anja Bukovac
00240480 - - - M ? (Croatia (Hrvatska)) white 65y - - - meningioma ORPHA:2495 meningioma TP53 TP53 2 1 Anja Bukovac
00240482 - - - F ? Croatia (Hrvatska) white 55y - - - meningioma ORPHA:2495 meningioma TP53 TP53 1 1 Anja Bukovac
00240483 - - - F ? Croatia (Hrvatska) white 47y - - - meningioma ORPHA:2495 meningioma TP53 TP53 1 1 Anja Bukovac
00240485 - - - F ? (Croatia (Hrvatska)) - 62y - - - meningioma ORPHA:2495 meningioma TP53 TP53 3 1 Anja Bukovac
00240488 - - - M ? Croatia (Hrvatska) white 71y - - - meningioma ORPHA:2495 meningioma TP53 TP53 4 1 Anja Bukovac
00240493 - - - M ? Croatia (Hrvatska) white 40y - - - meningioma ORPHA:2495 meningioma TP53 TP53 5 1 Anja Bukovac
00240498 - - - F - Croatia (Hrvatska) white 63y - - - meningioma ORPHA:2495 meningioma TP53 TP53 4 1 Anja Bukovac
00240502 - - - M - - white 62y - - - meningioma ORPHA:2495 meningioma TP53 TP53 2 1 Anja Bukovac
00240504 - - - F - Croatia (Hrvatska) - 67y - - - meningioma ORPHA:2495 meningioma TP53 TP53 2 1 Anja Bukovac
00241235 - - - F - Croatia (Hrvatska) white 63y - - - meningioma ORPHA:2495 meningioma TP53 TP53 3 1 Anja Bukovac
00241239 - - - F ? (Croatia (Hrvatska)) white 74y - - - meningioma ORPHA:2495 meningioma TP53 TP53 1 1 Anja Bukovac
00241241 - - - M ? (Croatia (Hrvatska)) white 45y - - - meningioma ORPHA:2495 meningioma TP53 TP53 2 1 Anja Bukovac
00241242 - - - F ? (Croatia (Hrvatska)) white 74y - - - meningioma ORPHA:2495 meningioma TP53 TP53 2 1 Anja Bukovac
00241244 - - - M ? Croatia (Hrvatska) white 75y - - - meningioma ORPHA:2495 meningioma TP53 TP53 1 1 Anja Bukovac
00241246 - - - M ? Croatia (Hrvatska) - 32y - - - meningioma ORPHA:2495 meningioma TP53 TP53 1 1 Anja Bukovac
00241248 - - - M ? Croatia (Hrvatska) white 77y - - - meningioma ORPHA:2495 meningioma TP53 TP53 1 1 Anja Bukovac
00241251 - - - F ? Croatia (Hrvatska) - 71y - - - meningioma ORPHA:2495 meningioma TP53 TP53 1 1 Anja Bukovac
00241253 - - - F ? Croatia (Hrvatska) white 64y - - - meningioma ORPHA:2495 meningioma TP53 TP53 2 1 Anja Bukovac
00241255 - - - F ? Croatia (Hrvatska) - - - - - meningioma ORPHA:2495 meningioma TP53 TP53 4 1 Anja Bukovac
00241257 - - - F ? Croatia (Hrvatska) white 73y - - - meningioma ORPHA:2495 meningioma TP53 TP53 1 1 Anja Bukovac
00241259 - - - F ? Croatia (Hrvatska) - 67y - - - meningioma ORPHA:2495 meningioma TP53 TP53 2 1 Anja Bukovac
00241260 - - - F ? Croatia (Hrvatska) - 79y - - - meningioma ORPHA:2495 meningioma TP53 TP53 1 1 Anja Bukovac
00241261 - - - F - Croatia (Hrvatska) - 61y - - - meningioma ORPHA:2495 meningioma TP53 TP53 2 1 Anja Bukovac
00314785 P1-2 - sister F - France - - - - - meningioma Sinonasal sarcoma (46) NTHL1 NTHL1 1 1 Flavie Boulouard
Legend   How to query