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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: Chromosome Disorders (D025063)
..Starting node ..Beckwith-Wiedemann Syndrome (D001506)
Child Nodes:
........Franceschini Vardeu Guala syndrome (C537272)
Sister Nodes:
..10p Deletion Syndrome (Partial) (C538288)
..13q deletion syndrome (C535484) 1
..15q24 Microdeletion (C579849)
..16p11.2 Deletion Syndrome (C579850)
..22q11 Deletion Syndrome (D058165) 5
..6q+ Syndrome, Partial (C537810)
..7p2 monosomy syndrome (C537818)
..9q22.3 Microdeletion (C579873)
..Angelman Syndrome (D017204) 1
..Beckwith-Wiedemann Syndrome (D001506) 1
..Branchio-Oto-Renal Syndrome (D019280) 5
..Chromosome 10q duplication syndrome (C537804)
..Chromosome 13q-mosaicism (C535486)
..Chromosome 15q13.3 Microdeletion Syndrome (C567439)
..Chromosome 17p13.3 Duplication Syndrome (C567705)
..Chromosome 18 deletion syndrome (C536580)
..Chromosome 18p deletion syndrome (C538309)
..Chromosome 19q13.11 Deletion Syndrome (C567810)
..Chromosome 1p36 Deletion Syndrome (C535362)
..Chromosome 22, monosome mosaic (C536798)
..Chromosome 3 duplication syndrome (C536803)
..Chromosome 3q29 Duplication Syndrome (C567626)
..Chromosome 4, 4q Terminal Deletion Syndrome (C537641)
..Chromosome 4q- Syndrome (C537639)
..Chromosome 5p13 Duplication Syndrome (C567717)
..Chromosome 6 ring syndrome (C537763)
..Chromosome 7 ring syndrome (C537813)
..Chromosome Xp11.23-P11.22 Duplication Syndrome (C567585)
..Contiguous Abcd1/Dxs1375e Deletion Syndrome (C564508)
..Cri-du-Chat Syndrome (D003410) 6
..De Lange Syndrome (D003635) 1
..Delayed Cranial Ossification due to CBFB Haploinsufficiency (C565160)
..Deletion 13q syndrome, partial (C535449)
..Distal Trisomy 10q Syndrome (C538087)
..Down Syndrome (D004314) 6
..Duplication 4p Syndrome (C537643)
..Edinburgh Malformation Syndrome (C563051)
..Emanuel syndrome (C535733)
..Fragile Site 16p12 (C565001)
..Holoprosencephaly (D016142) 22
..Isodicentric Chromosome 15 Syndrome (C580205)
..Jacobsen Distal 11q Deletion Syndrome (D054868) 1
..Mental Retardation, Fra12a Type (C566980)
..Monosomy 7 of Bone Marrow (C565370)
..Mosaic variegated aneuploidy syndrome (C536987)
..NF1 Microduplication Syndrome (C567173)
..Otodental Dysplasia (C563482)
..Pallister Killian syndrome (C538105)
..Partial Duplication 15q Syndrome (C538036)
..Partial Trisomy 3q Syndrome (C537635)
..Patau syndrome (C536305)
..Potocki-Shaffer syndrome (C538356)
..Prader-Willi Syndrome (D011218) 2
..Recombinant chromosome 8 syndrome (C535296)
..Ring chromosome 4 syndrome (C537636)
..Rubinstein-Taybi Syndrome (D012415) 2
..Schmid-Fraccaro syndrome (C535918)
..Sex Chromosome Disorders (D025064) 32
..Silver-Russell Syndrome (D056730) 1
..Smith-Magenis Syndrome (D058496) 1
..Sotos Syndrome (D058495) 1
..Telomeric 22q13 Monosomy Syndrome (C536801)
..Thrombocytopenia chromosome breakage (C536519)
..Trisomy 18-Like Syndrome (C563382)
..Trisomy 22 mosaicism syndrome (C536796)
..WAGR Syndrome (D017624) 2
..Warburton Anyane Yeboa syndrome (C536682)
..Williams Syndrome (D018980) 1
..Wolf-Hirschhorn Syndrome (D054877)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1208

Name:

Beckwith-Wiedemann Syndrome

Definition:

A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities.

Alternative IDs:

OMIM:130650

ParentIDs:

MESH:D000015|MESH:D025063

TreeNumbers:

C16.131.077.133 |C16.131.260.080 |C16.320.180.080

Synonyms:

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)

Reference:

MedGen: D001506
MeSH: D001506
OMIM: 130650;

Genes: AF8T; CDKN1C; H19; KCNQ1OT1; NSD1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0005616	Accelerated skeletal maturation
3	HP:0006744	Adrenocortical carcinoma
4	HP:0008186	Adrenocortical cytomegaly
5	HP:0001640	Cardiomegaly
6	HP:0001638	Cardiomyopathy
7	HP:0000280	Coarse facial features
8	HP:0000028	Cryptorchidism
9	HP:0001305	Dandy-Walker malformation	HP:0040283
10	HP:0001540	Diastasis recti
11	HP:0000105	Enlarged kidney
12	HP:0000150	Gonadoblastoma
13	HP:0001528	Hemihypertrophy
14	HP:0002884	Hepatoblastoma
15	HP:0002240	Hepatomegaly
16	HP:0000239	Large fontanelles
17	HP:0000158	Macroglossia
18	HP:0011800	Midface retrusion
19	HP:0001998	Neonatal hypoglycemia
20	HP:0002667	Nephroblastoma
21	HP:0000121	Nephrocalcinosis
22	HP:0000787	Nephrolithiasis
23	HP:0001052	Nevus flammeus
24	HP:0001539	Omphalocele
25	HP:0001548	Overgrowth
26	HP:0003247	Overgrowth of external genitalia
27	HP:0006277	Pancreatic hyperplasia
28	HP:0008523	Posterior helix pit
29	HP:0005487	Prominent metopic ridge
30	HP:0000269	Prominent occiput
31	HP:0000520	Proptosis
32	HP:0000803	Renal cortical cysts
33	HP:0000076	Vesicoureteral reflux

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NR_131224.1(WT2):n.-297A>C	-1	-	not provided	587777745	RCV000190278;	N	MedGen:C0004903,OMIM:130650,ORPHA:116,SNOMED CT:81780002	11	2022993	2022993	-	-	NC_000011.9:g.2022993T>G	-	C0004903 130650 Beckwith-Wiedemann syndrome
NM_000076.2(CDKN1C):c.*5+2T>C	1028	CDKN1C	Pathogenic	587777866	RCV000172924;	N	MedGen:C0004903,OMIM:130650,ORPHA:116,SNOMED CT:81780002	11	2905227	2905227	NM_000076.2:c.*5+2T>C		NC_000011.9:g.2905227A>G	-	C0004903 130650 Beckwith-Wiedemann syndrome
NM_000076.2(CDKN1C):c.845C>G (p.Ser282Ter)	1028	CDKN1C	Pathogenic	267606716	RCV000009291;	N	MedGen:C0004903,OMIM:130650,ORPHA:116,SNOMED CT:81780002	11	2905340	2905340	NM_000076.2:c.845C>G	NP_000067.1:p.Ser282Ter	NC_000011.9:g.2905340G>C,NC_000011.9:g.2905340G>T	OMIM Allelic Variant:600856.0005	C0004903 130650 Beckwith-Wiedemann syndrome
NM_000076.2(CDKN1C):c.845C>A (p.Ser282Ter)	1028	CDKN1C	Pathogenic	267606716	RCV000009292;	N	MedGen:C0004903,OMIM:130650,ORPHA:116,SNOMED CT:81780002	11	2905340	2905340	NM_000076.2:c.845C>A	NP_000067.1:p.Ser282Ter	NC_000011.9:g.2905340G>C,NC_000011.9:g.2905340G>T	OMIM Allelic Variant:600856.0006	C0004903 130650 Beckwith-Wiedemann syndrome
NM_000076.2(CDKN1C):c.740C>A (p.Ser247Ter)	1028	CDKN1C	Pathogenic	104894200	RCV000009290;	N	MedGen:C0004903,OMIM:130650,ORPHA:116,SNOMED CT:81780002	11	2905980	2905980	NM_000076.2:c.740C>A	NP_000067.1:p.Ser247Ter	NC_000011.9:g.2905980G>T	OMIM Allelic Variant:600856.0004	C0004903 130650 Beckwith-Wiedemann syndrome
NM_000076.2(CDKN1C):c.694C>T (p.Gln232Ter)	1028	CDKN1C	Pathogenic	797045445	RCV000192927;	N	MedGen:C0004903,OMIM:130650,ORPHA:116,SNOMED CT:81780002	11	2906026	2906026	NM_000076.2:c.694C>T	NP_000067.1:p.Gln232Ter	NC_000011.9:g.2906026G>A	-	C0004903 130650 Beckwith-Wiedemann syndrome
NM_000076.2(CDKN1C):c.644_649dupCCCCGG (p.Pro216_Asp217insAlaPro)	1028	CDKN1C	Pathogenic	772704243	RCV000172988;	N	MedGen:C0004903,OMIM:130650,ORPHA:116,SNOMED CT:81780002	11	2906071	2906076	NM_000076.2:c.644_649dupCCCCGG	NP_000067.1:p.Pro216_Asp217insAlaPro	NC_000011.9:g.2906071_2906076dupCCGGGG	-	C0004903 130650 Beckwith-Wiedemann syndrome
NM_000076.2(CDKN1C):c.641_644delCGGCinsGGG (p.Pro214Argfs)	1028	CDKN1C	Pathogenic	786205240	RCV000172987;	N	MedGen:C0004903,OMIM:130650,ORPHA:116,SNOMED CT:81780002	11	2906076	2906079	NM_000076.2:c.641_644delCGGCinsGGG	NP_000067.1:p.Pro214Argfs	NC_000011.9:g.2906076_2906079delGCCGinsCCC	-	C0004903 130650 Beckwith-Wiedemann syndrome
NM_000076.2(CDKN1C):c.611_635dup25 (p.Ala213Glyfs)	1028	CDKN1C	Pathogenic	786205238	RCV000172983;	N	MedGen:C0004903,OMIM:130650,ORPHA:116,SNOMED CT:81780002	11	2906085	2906109	NM_000076.2:c.611_635dup25	NP_000067.1:p.Ala213Glyfs	NC_000011.9:g.2906085_2906109dup25	-	C0004903 130650 Beckwith-Wiedemann syndrome
NM_000076.2(CDKN1C):c.635delC (p.Pro212Argfs)	1028	CDKN1C	Pathogenic	786205237	RCV000172986;	N	MedGen:C0004903,OMIM:130650,ORPHA:116,SNOMED CT:81780002	11	2906085	2906085	NM_000076.2:c.635delC	NP_000067.1:p.Pro212Argfs	NC_000011.9:g.2906085delG	-	C0004903 130650 Beckwith-Wiedemann syndrome
NM_000076.2(CDKN1C):c.631delGinsAA (p.Ala211Asnfs)	1028	CDKN1C	Pathogenic	786205239	RCV000172985;	N	MedGen:C0004903,OMIM:130650,ORPHA:116,SNOMED CT:81780002	11	2906089	2906089	NM_000076.2:c.631delGinsAA	NP_000067.1:p.Ala211Asnfs	NC_000011.9:g.2906089delCinsTT	-	C0004903 130650 Beckwith-Wiedemann syndrome
NM_000076.2(CDKN1C):c.629_630insGCTCCGGCCCC (p.Ala211Leufs)	1028	CDKN1C	Pathogenic	786205241	RCV000172984;	N	MedGen:C0004903,OMIM:130650,ORPHA:116,SNOMED CT:81780002	11	2906090	2906091	NM_000076.2:c.629_630insGCTCCGGCCCC	NP_000067.1:p.Ala211Leufs	NC_000011.9:g.2906090_2906091insGGGGCCGGAGC	-	C0004903 130650 Beckwith-Wiedemann syndrome
NM_000076.2(CDKN1C):c.449delC (p.Pro150Glnfs)	1028	CDKN1C	Pathogenic	786205234	RCV000172982;	N	MedGen:C0004903,OMIM:130650,ORPHA:116,SNOMED CT:81780002	11	2906271	2906271	NM_000076.2:c.449delC	NP_000067.1:p.Pro150Glnfs	NC_000011.9:g.2906271delG	-	C0004903 130650 Beckwith-Wiedemann syndrome
NM_000076.2(CDKN1C):c.400dupG (p.Glu134Glyfs)	1028	CDKN1C	Pathogenic	786205236	RCV000172990;	N	MedGen:C0004903,OMIM:130650,ORPHA:116,SNOMED CT:81780002	11	2906320	2906320	NM_000076.2:c.400dupG	NP_000067.1:p.Glu134Glyfs	NC_000011.9:g.2906320dupC	-	C0004903 130650 Beckwith-Wiedemann syndrome
NM_000076.2(CDKN1C):c.333dupC (p.Ala112Argfs)	1028	CDKN1C	Pathogenic	786205235	RCV000172989;	N	MedGen:C0004903,OMIM:130650,ORPHA:116,SNOMED CT:81780002	11	2906387	2906387	NM_000076.2:c.333dupC	NP_000067.1:p.Ala112Argfs	NC_000011.9:g.2906387dupG	-	C0004903 130650 Beckwith-Wiedemann syndrome
NM_000076.2(CDKN1C):c.310_311delCTinsG (p.Leu104Glyfs)	1028	CDKN1C	Pathogenic	387906399	RCV000009289;	N	MedGen:C0004903,OMIM:130650,ORPHA:116,SNOMED CT:81780002	11	2906409	2906410	NM_000076.2:c.310_311delCTinsG	NP_000067.1:p.Leu104Glyfs	NC_000011.9:g.2906409_2906410delAGinsC	OMIM Allelic Variant:600856.0003	C0004903 130650 Beckwith-Wiedemann syndrome
NM_000076.2(CDKN1C):c.139C>T (p.Gln47Ter)	1028	CDKN1C	Pathogenic	137852766	RCV000009287;	N	MedGen:C0004903,OMIM:130650,ORPHA:116,SNOMED CT:81780002	11	2906581	2906581	NM_000076.2:c.139C>T	NP_000067.1:p.Gln47Ter	NC_000011.9:g.2906581G>A	OMIM Allelic Variant:600856.0001	C0004903 130650 Beckwith-Wiedemann syndrome
NR_131224.1(WT2):n.249+1110G>T	6150	MRPL23	not provided	431825167	RCV000128483;	N	MedGen:C0004903,OMIM:130650,ORPHA:116,SNOMED CT:81780002	11	2021338	2021338	-	-	NC_000011.9:g.2021338C>A	-	C0004903 130650 Beckwith-Wiedemann syndrome
NC_000011.10:g.2000605A>T	6150	MRPL23	not provided	431825169	RCV000128485;	N	MedGen:C0004903,OMIM:130650,ORPHA:116,SNOMED CT:81780002	11	2021835	2021835	-	-	NC_000011.9:g.2021835A>T	-	C0004903 130650 Beckwith-Wiedemann syndrome
NC_000011.10:g.2000708T>A	6150	MRPL23	not provided	431825166	RCV000128482;	N	MedGen:C0004903,OMIM:130650,ORPHA:116,SNOMED CT:81780002	11	2021938	2021938	-	-	NC_000011.9:g.2021938T>A	-	C0004903 130650 Beckwith-Wiedemann syndrome
NR_131224.1(H19):n.249+189G>T	6150	MRPL23	not provided	431825168	RCV000128484;	N	MedGen:C0004903,OMIM:130650,ORPHA:116,SNOMED CT:81780002	11	2022259	2022259	-	-	NC_000011.9:g.2022259C>A	-	C0004903 130650 Beckwith-Wiedemann syndrome
NR_131224.1(H19):n.249+135C>T	6150	MRPL23	not provided	431825164	RCV000128480;	N	MedGen:C0004903,OMIM:130650,ORPHA:116,SNOMED CT:81780002	11	2022313	2022313	-	-	NC_000011.9:g.2022313G>A	-	C0004903 130650 Beckwith-Wiedemann syndrome
NR_131224.1(H19):n.-317_-297del	6150	MRPL23	not provided	431825165	RCV000128481;	N	MedGen:C0004903,OMIM:130650,ORPHA:116,SNOMED CT:81780002	11	2022993	2023013	-	-	NC_000011.9:g.2022993_2023013del21	-	C0004903 130650 Beckwith-Wiedemann syndrome
NC_000011.10:g.2001815G>A	6150	MRPL23	not provided	431825163	RCV000128479;	N	MedGen:C0004903,OMIM:130650,ORPHA:116,SNOMED CT:81780002	11	2023045	2023045	-	-	NC_000011.9:g.2023045G>A	-	C0004903 130650 Beckwith-Wiedemann syndrome
NM_022455.4(NSD1):c.2350C>T (p.Gln784Ter)	64324	NSD1	Likely pathogenic	374740802	RCV000195430;	N	MedGen:C0004903,OMIM:130650,ORPHA:116,SNOMED CT:81780002; MedGen:CN035106,OMIM:117550	5	176637750	176637750	NM_022455.4:c.2350C>T	NP_071900.2:p.Gln784Ter	NC_000005.9:g.176637750C>G,NC_000005.9:g.176637750C>T	-	C0004903 130650 Beckwith-Wiedemann syndrome; CN035106 117550 Sotos syndrome 1