Disease #01429

Official abbreviation MDB
Name medulloblastoma (MDB)
OMIM ID 155255
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 9
Phenotype entries for this disease 7
Associated with 4 genes BRCA2, CTNNB1, PTCH2, SUFU
Associated tissues -
Disease features -
Remarks -


Individuals

9 entries on 1 page. Showing entries 1 - 9.
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00047909 - - - - - - - - 0 - - MDB - ARID1A ARID1A 1 1 Sian Jones
00047910 - - - - - - - - 0 - - MDB - ARID1A ARID1A 1 1 Sian Jones
00047911 - - - - - - - - 0 - - MDB - ARID1A ARID1A 1 1 Sian Jones
00063322 - PubMed: Kool 2014 - - - - - - 0 - - MDB - PTCH1 PTCH1 1 1 Michel van Geel
00063585 - PubMed: Kool 2014 - - - - - - 0 - - MDB - PTCH1 PTCH1 1 1 Michel van Geel
00089019 - PubMed: Schlisio 2008 - - - - - - 0 - - MDB see paper; ... KIF1B KIF1B 1 1 Johan den Dunnen
00187259 - - - ? - - - - 0 - - MDB Additional info: young onset, medulloblastoma, acute myelocytic leukemia, colonic carcinomas; MSH6 MSH6 2 1 Michael Woods
00200931 - PubMed: Taeubner 2018 non-consanguinity; a family history without cancer diagnosis in the three preceding generations F - - gypsy, Roma - 0 pedigree - MDB skin pigmentation including multiple café-au-lait macules, hypopigmented areas and Mongolian spots - MSH2, MSH6 2 1 Julia Täubner
00263982 #06 - - F - Brazil - 23y 0 - - MDB 9y-medulloblastoma, 15y-osteosarcoma (Chompret criteria for Li-Fraumeni syndrome); maternal grandfather with gastric cancer at 39y ATM ATM 1 1 Raissa Andrade
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