Disease #00231 (BWS (Beckwith-Wiedemann syndrome (BWS)), OMIM:130650)

Official abbreviation BWS
Name Beckwith-Wiedemann syndrome (BWS)
OMIM ID 130650
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 51
Phenotype entries for this disease 51
Associated with 4 genes CDKN1C, H19, KCNQ1OT1, NSD1
Associated tissues -
Disease features -
Remarks -


Individuals

51 entries on 1 page. Showing entries 1 - 51.
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00016439 - PubMed: Romanelli 2010 - - ? ? (unknown) ? - - - - BWS ear abnormality (HP:0000598); abnormal kidney (HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); organomegaly; no abdominal wall defect (-HP:0010866); no hypoglycemia (-HP:0001943); no heart abnormality (-HP:0001627); CDKN1C CDKN1C 1 1 Eamonn Maher
00016440 - PubMed: Romanelli 2010 - - ? ? (unknown) ? - - - - BWS ear abnormality (HP:0000598); cleft palate (HP:0000175); macrosomia (HP:0001520); macroglossia (HP:0000158); abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); no heart abnormality (-HP:0001627); CDKN1C CDKN1C 1 1 Eamonn Maher
00016441 - PubMed: Engel 2000 - - ? ? (unknown) ? - 0 - - BWS - CDKN1C CDKN1C 1 1 Eamonn Maher
00016442 - PubMed: Lee 1997 - - ? ? (unknown) ? - - - - BWS ear abnormality (HP:0000598); normal kidney (-HP:0000077); macroglossia (HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); tumor CDKN1C CDKN1C 1 1 Eamonn Maher
00016443 - PubMed: Li 2001 - - ? ? (unknown) ? - - - - BWS abnormal karyotype; ear abnormality (HP:0000598); normal kidney (-HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); no organomegaly; no abdominal wall defect (-HP:0010866); no hypoglycemia (-HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); no tumor CDKN1C CDKN1C 1 1 Eamonn Maher
00016444 - PubMed: Hatada 1996 - - ? ? (unknown) ? - - - - BWS ear abnormality (HP:0000598); normal kidney (-HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); naevus flammeus (HP:0010733) ; no tumor CDKN1C CDKN1C 1 1 Eamonn Maher
00016445 - PubMed: Li 2001 - - ? ? (unknown) ? - - - - BWS abnormal karyotype; ear abnormality (HP:0000598); abnormal kidney (HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); organomegaly; abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no hemihypertrophy (-HP:0001528); heart abnormality (HP:0001627); no tumor CDKN1C CDKN1C 1 1 Eamonn Maher
00016446 - Journal: Yatsuki 2013 - - ? ? (unknown) ? - - - - BWS abnormal karyotype; ear abnormality (HP:0000598); cleft palate (HP:0000175); macrosomia (HP:0001520); macroglossia (HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no hemihypertrophy (-HP:0001528); no naevus flammeus (-HP:0010733); no tumor CDKN1C CDKN1C 1 1 Eamonn Maher
00016447 - PubMed: O’Keefe 1997 - - ? ? (unknown) ? - - - - BWS abnormal karyotype; ear abnormality (HP:0000598); normal kidney (-HP:0000077); macroglossia (HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); no tumor CDKN1C CDKN1C 1 1 Eamonn Maher
00016448 - PubMed: Welsh 2011 - - ? ? (unknown) ? - - - - BWS ear abnormality (HP:0000598); macrosomia (HP:0001520); macroglossia (HP:0000158); abdominal wall defect (HP:0010866); no heart abnormality (-HP:0001627); CDKN1C CDKN1C 1 1 Eamonn Maher
00016449 - PubMed: Lam 1999 - - ? ? (unknown) ? - - - - BWS ear abnormality (HP:0000598); normal kidney (-HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); naevus flammeus (HP:0010733) ; no tumor CDKN1C CDKN1C 1 1 Eamonn Maher
00016450 - PubMed: Romanelli 2009 - - ? ? (unknown) ? - 0 - - BWS ear abnormality (HP:0000598); cleft palate (HP:0000175); macrosomia (HP:0001520); macroglossia (HP:0000158); abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no heart abnormality (-HP:0001627); naevus flammeus (HP:0010733) ; CDKN1C CDKN1C 1 1 Eamonn Maher
00016451 - Journal: Yatsuki 2013 - - ? ? (unknown) ? - - - - BWS abnormal karyotype; no ear abnormality (-HP:0000598); no cleft palate (-HP:0000175); no macrosomia (-HP:0001520); macroglossia (HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no hemihypertrophy (-HP:0001528); heart abnormality (HP:0001627); no naevus flammeus (-HP:0010733); tumor CDKN1C CDKN1C 1 1 Eamonn Maher
00016452 - PubMed: Hatada 1997 - - ? ? (unknown) ? - - - - BWS ear abnormality (HP:0000598); abnormal kidney (HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); organomegaly; abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); no hemihypertrophy (-HP:0001528); heart abnormality (HP:0001627); naevus flammeus (HP:0010733) ; no tumor CDKN1C CDKN1C 1 1 Eamonn Maher
00016453 - PubMed: Engel 2000 - - ? ? (unknown) ? - 0 - - BWS - CDKN1C CDKN1C 1 1 Eamonn Maher
00016454 - Journal: Yatsuki 2013 - - ? ? (unknown) ? - - - - BWS abnormal karyotype; ear abnormality (HP:0000598); no cleft palate (-HP:0000175); macrosomia (HP:0001520); macroglossia (HP:0000158); organomegaly; abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); no hemihypertrophy (-HP:0001528); no naevus flammeus (-HP:0010733); no tumor CDKN1C CDKN1C 1 1 Eamonn Maher
00016455 - PubMed: Lee 1997 - - ? ? (unknown) ? - - - - BWS ear abnormality (HP:0000598); normal kidney (-HP:0000077); macroglossia (HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); naevus flammeus (HP:0010733) ; no tumor CDKN1C CDKN1C 1 1 Eamonn Maher
00016456 - PubMed: Lam 1999 - - ? ? (unknown) ? - - - - BWS ear abnormality (HP:0000598); normal kidney (-HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); organomegaly; no abdominal wall defect (-HP:0010866); no hypoglycemia (-HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); naevus flammeus (HP:0010733) ; no tumor CDKN1C CDKN1C 1 1 Eamonn Maher
00016457 - PubMed: Kantaputra 2012 - - ? ? (unknown) ? - - - - BWS ear abnormality (HP:0000598); cleft palate (HP:0000175); macrosomia (HP:0001520); macroglossia (HP:0000158); abdominal wall defect (HP:0010866); no heart abnormality (-HP:0001627); naevus flammeus (HP:0010733) ; CDKN1C CDKN1C 1 1 Eamonn Maher
00016458 - PubMed: Romanelli 2010 - - ? ? (unknown) ? - - - - BWS no ear abnormality (-HP:0000598); cleft palate (HP:0000175); macrosomia (HP:0001520); macroglossia (HP:0000158); abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no heart abnormality (-HP:0001627); CDKN1C CDKN1C 1 1 Eamonn Maher
00016459 - Journal: Yatsuki 2013 - - ? ? (unknown) ? - - - - BWS abnormal karyotype; ear abnormality (HP:0000598); no cleft palate (-HP:0000175); macrosomia (HP:0001520); macroglossia (HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); no hemihypertrophy (-HP:0001528); naevus flammeus (HP:0010733) ; no tumor CDKN1C CDKN1C 1 1 Eamonn Maher
00016460 - PubMed: Li 2001 - - ? ? (unknown) ? - - - - BWS abnormal karyotype; ear abnormality (HP:0000598); normal kidney (-HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); no tumor CDKN1C CDKN1C 1 1 Eamonn Maher
00016461 - PubMed: Li 2001, Journal: Yatsuki 2013 - - ? ? (unknown) ? - - - - BWS abnormal karyotype; ear abnormality (HP:0000598); cleft palate (HP:0000175); macrosomia (HP:0001520); no macroglossia (-HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); no hemihypertrophy (-HP:0001528); naevus flammeus (HP:0010733) ; no tumor CDKN1C CDKN1C 1 1 Eamonn Maher
00016462 - PubMed: Hatada 1997 - - ? ? (unknown) ? - - - - BWS ear abnormality (HP:0000598); normal kidney (-HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); organomegaly; abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); no tumor CDKN1C CDKN1C 1 1 Eamonn Maher
00016463 - PubMed: Eggermann 2014 - - ? ? (unknown) ? - - - - BWS - CDKN1C CDKN1C 1 1 Eamonn Maher
00016464 - PubMed: Li 2001 - - ? ? (unknown) ? - - - - BWS abnormal karyotype; ear abnormality (HP:0000598); normal kidney (-HP:0000077); no macrosomia (-HP:0001520); macroglossia (HP:0000158); organomegaly; abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); no tumor CDKN1C CDKN1C 1 1 Eamonn Maher
00016465 - PubMed: Lam 1999 - - ? ? (unknown) ? - - - - BWS ear abnormality (HP:0000598); normal kidney (-HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); no tumor CDKN1C CDKN1C 1 1 Eamonn Maher
00016466 - PubMed: Romanelli 2010 - - ? ? (unknown) ? - - - - BWS no ear abnormality (-HP:0000598); macrosomia (HP:0001520); macroglossia (HP:0000158); abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); no heart abnormality (-HP:0001627); CDKN1C CDKN1C 1 1 Eamonn Maher
00016467 - PubMed: Hatada 1996 - - ? ? (unknown) ? - - - - BWS ear abnormality (HP:0000598); normal kidney (-HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); no tumor CDKN1C CDKN1C 1 1 Eamonn Maher
00016468 - PubMed: Lam 1999 - - ? ? (unknown) ? - - - - BWS ear abnormality (HP:0000598); normal kidney (-HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); naevus flammeus (HP:0010733) ; no tumor CDKN1C CDKN1C 1 1 Eamonn Maher
00016469 - PubMed: Lam 1999, PubMed: Romanelli 2010 - - ? ? (unknown) ? - - - - BWS ear abnormality (HP:0000598); macrosomia (HP:0001520); macroglossia (HP:0000158); abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no heart abnormality (-HP:0001627); CDKN1C CDKN1C 1 1 Eamonn Maher
00016470 - PubMed: Romanelli 2010 - - ? ? (unknown) ? - - - - BWS ear abnormality (HP:0000598); macrosomia (HP:0001520); macroglossia (HP:0000158); organomegaly; abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); heart abnormality (HP:0001627); naevus flammeus (HP:0010733) ; CDKN1C CDKN1C 1 1 Eamonn Maher
00016471 - PubMed: Romanelli 2010 - - ? ? (unknown) ? - - - - BWS ear abnormality (HP:0000598); abnormal kidney (HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); no heart abnormality (-HP:0001627); naevus flammeus (HP:0010733) ; CDKN1C CDKN1C 1 1 Eamonn Maher
00016472 - PubMed: Lam 1999 - - ? ? (unknown) ? - - - - BWS ear abnormality (HP:0000598); normal kidney (-HP:0000077); macrosomia (HP:0001520); no macroglossia (-HP:0000158); organomegaly; abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); no tumor CDKN1C CDKN1C 1 1 Eamonn Maher
00016473 - PubMed: Percesepe 2008 mother (38y) referred for prenatal counselling due to diagnosis of recurrent omphalocele at 14w pregnancy; 20w therapeutical abortion 2y previously (ultrasonographic diagnosis massive omphalocele (6 cm diameter)); 3 earlier spontaneous abortions, all 6w pregnancy, healthy 5y son M no Italy - - 0 - - BWS see paper; ..., normal karyotype; placental mesenchymal dysplasia; ear abnormality (HP:0000598); macroglossia (HP:0000158); organomegaly; no hypoglycemia (-HP:0001943); naevus flammeus (HP:0010733) ; CDKN1C CDKN1C 1 1 Johan den Dunnen
00016474 - PubMed: Aleck 1989, PubMed: Lew 2004 4-generation family, 5 affecteds (2F, 3M), 4 unaffected carriers (4F) M no Canada - - 0 - - BWS all affecteds inherited variant allele maternally; CDKN1C CDKN1C 3 1 Johan den Dunnen
00029837 - - - - no Italy - - 0 - - BWS - CDKN1C CDKN1C 1 1 Silvia Russo
00029838 - - - - - Italy - - 0 - - BWS - CDKN1C CDKN1C 1 1 Silvia Russo
00029840 - - - - - Italy - - 0 - - BWS - CDKN1C CDKN1C 1 1 Silvia Russo
00032383 - - - - - Italy - - 0 - - BWS - CDKN1C CDKN1C 1 1 Silvia Russo
00032384 - - - - - Italy - - 0 - - BWS - CDKN1C CDKN1C 1 1 Silvia Russo
00032385 - - - - - Italy - - 0 - - BWS - CDKN1C CDKN1C 1 1 Silvia Russo
00032386 - - - - - Italy - - 0 - - BWS - CDKN1C CDKN1C 1 1 Silvia Russo
00032387 - Russo, unpublished - - - Italy - - 0 - - BWS - CDKN1C CDKN1C 1 1 Silvia Russo
00032395 - - - - - Italy - - 0 - - BWS - CDKN1C CDKN1C 1 1 Silvia Russo
00032396 - - - - - Italy - - 0 - - BWS - CDKN1C CDKN1C 1 1 Silvia Russo
00054752 - PubMed: Beygo 2016, Journal: Beygo 2016 patient III-6 of 3-generation family, at least 3/4 previous pregnancies affected by omphalocoeles F - Serbia Caucasian - 0 - - BWS see paper; ..., placental mesenchymal dysplasia; abdominal wall defect (HP:0010866); KCNQ1 KCNQ1 1 1 Jasmin Beygo
00103960 Case 1 - - F - - - - 0 - - BWS macrosomia (HP:0001520); macroglossia (HP:0000158); hernia; nephroblastoma H19, KCNQ1OT1 - 8 1 Jack Brzezinski
00103962 Case 2 - - M - - - - 0 - - BWS nevus simplex; macrosomia (HP:0001520); abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); hemihypertrophy (HP:0001528); heart abnormality (HP:0001627); nephrogenic rests H19, KCNQ1OT1 - 2 1 Jack Brzezinski
00103963 Case 3 - - M - - - - 0 - - BWS macrosomia (HP:0001520); macroglossia (HP:0000158); organomegaly; abdominal wall defect (HP:0010866); nephroblastoma H19, KCNQ1OT1 - 8 1 Jack Brzezinski
00301347 14218 - - F no Germany - - 0 - - BWS recurrent miscarriages, MLID in children PADI6 PADI6 1 1 Thomas Eggermann
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