PedAM

Pediatric Disease Annotations & Medicines


	beckwith-wiedemann syndrome

Disease ID	476
Disease	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.
Synonym	beckwith syndrome beckwith syndrome wiedemann beckwith wiedemann syndrome beckwith's syndrome beckwith-wiedemann syndrome (disorder) beckwith-wiedemann syndrome [disease/finding] bws emg syndrome emg syndromes exomphalos-macroglossia-gigantism syndrome syndrome emg syndrome wiedemann syndrome, beckwith-wiedemann syndrome, emg syndrome, wiedemann-beckwith syndrome, wiedemann-beckwith (wbs) syndromes, emg syndromes, wiedemann-beckwith (wbs) wbs wiedemann beckwith syndrome wiedemann beckwith syndrome (wbs) wiedemann syndrome wiedemann-beckwith syndrome wiedemann-beckwith syndrome (wbs) wiedemann-beckwith syndromes (wbs)
Orphanet	ORPHANET:116
OMIM	OMIM:130650 OMIM:194050
DOID	DOID:5572
UMLS	C0004903
MeSH	D001506
SNOMED-CT	SNOMEDCT_US_2016_09_01:81780002
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:11) C0206624 \| hepatoblastoma \| 2 C0162635 \| angelman syndrome \| 2 C0020598 \| hypoglycemia \| 1 C0020459 \| hyperinsulinism \| 1 C0037315 \| sleep-disordered breathing \| 1 C0023418 \| leukemia \| 1 C0023462 \| acute megakaryocytic leukemia \| 1 C0178421 \| fibroadenoma \| 1 C0020635 \| hypopituitarism \| 1 C0011849 \| diabetes mellitus \| 1 C0011847 \| diabetes \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:6) IGF2 \| 3481 \| CTD_human;GHR NSD1 \| 64324 \| CLINVAR;CTD_human ICR1 \| 3388 \| CLINVAR KCNQ1OT1 \| 10984 \| CLINVAR;CTD_human H19 \| 283120 \| CLINVAR;CTD_human CDKN1C \| 1028 \| CLINVAR;CTD_human;GHR
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 3481 \| IGF2 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:138) 11136 \| SLC7A9 \| DISEASES 4826 \| NNAT \| DISEASES 3784 \| KCNQ1 \| DISEASES 10077 \| TSPAN32 \| DISEASES 7051 \| TGM1 \| DISEASES 6907 \| TBL1X \| DISEASES 54602 \| NDFIP2 \| DISEASES 23619 \| ZIM2 \| DISEASES 4232 \| MEST \| DISEASES 2645 \| GCK \| DISEASES 35 \| ACADS \| DISEASES 140690 \| CTCFL \| DISEASES 1026 \| CDKN1A \| DISEASES 7389 \| UROD \| DISEASES 4654 \| MYOD1 \| DISEASES 7166 \| TPH1 \| DISEASES 3630 \| INS \| DISEASES 10343 \| PKDREJ \| DISEASES 2488 \| FSHB \| DISEASES 7691 \| ZNF132 \| DISEASES 53 \| ACP2 \| DISEASES 8521 \| GCM1 \| DISEASES 26001 \| RNF167 \| DISEASES 23361 \| ZNF629 \| DISEASES 5126 \| PCSK2 \| DISEASES 5862 \| RAB2A \| DISEASES 6598 \| SMARCB1 \| DISEASES 975 \| CD81 \| DISEASES 114879 \| OSBPL5 \| DISEASES 10664 \| CTCF \| DISEASES 10923 \| SUB1 \| DISEASES 7994 \| KAT6A \| DISEASES 22822 \| PHLDA1 \| DISEASES 64062 \| RBM26 \| DISEASES 29947 \| DNMT3L \| DISEASES 7761 \| ZNF214 \| DISEASES 7140 \| TNNT3 \| DISEASES 7762 \| ZNF215 \| DISEASES 738 \| VPS51 \| DISEASES 5800 \| PTPRO \| DISEASES 197131 \| UBR1 \| DISEASES 431707 \| LHX8 \| DISEASES 219736 \| STOX1 \| DISEASES 9317 \| PTER \| DISEASES 6240 \| RRM1 \| DISEASES 9101 \| USP8 \| DISEASES 3479 \| IGF1 \| DISEASES 7324 \| UBE2E1 \| DISEASES 7275 \| TUB \| DISEASES 7690 \| ZNF131 \| DISEASES 5002 \| SLC22A18 \| DISEASES 1212 \| CLTB \| DISEASES 51316 \| PLAC8 \| DISEASES 80818 \| ZNF436 \| DISEASES 7681 \| MKRN3 \| DISEASES 10009 \| ZBTB33 \| DISEASES 7262 \| PHLDA2 \| DISEASES 7586 \| ZKSCAN1 \| DISEASES 65985 \| AACS \| DISEASES 148266 \| ZNF569 \| DISEASES 5324 \| PLAG1 \| DISEASES 5178 \| PEG3 \| DISEASES 7485 \| WRB \| DISEASES 51286 \| CEND1 \| DISEASES 10078 \| TSSC4 \| DISEASES 7490 \| WT1 \| DISEASES 796 \| CALCA \| DISEASES 430 \| ASCL2 \| DISEASES 3043 \| HBB \| DISEASES 11335 \| CBX3 \| DISEASES 4004 \| LMO1 \| DISEASES 8788 \| DLK1 \| DISEASES 6609 \| SMPD1 \| DISEASES 1499 \| CTNNB1 \| DISEASES 3767 \| KCNJ11 \| DISEASES 5325 \| PLAGL1 \| DISEASES 51710 \| ZNF44 \| DISEASES 723961 \| INS-IGF2 \| DISEASES 6711 \| SPTBN1 \| DISEASES 3482 \| IGF2R \| DISEASES 1786 \| DNMT1 \| DISEASES 7707 \| ZNF148 \| DISEASES 10367 \| MICU1 \| DISEASES 1520 \| CTSS \| DISEASES 6566 \| SLC16A1 \| DISEASES 257 \| ALX3 \| DISEASES 154288 \| KHDC3L \| DISEASES 2239 \| GPC4 \| DISEASES 2778 \| GNAS \| DISEASES 2268 \| FGR \| DISEASES 5081 \| PAX7 \| DISEASES 7709 \| ZBTB17 \| DISEASES 22921 \| MSRB2 \| DISEASES 10253 \| SPRY2 \| DISEASES 7692 \| ZNF133 \| DISEASES 2308 \| FOXO1 \| DISEASES 284390 \| ZNF763 \| DISEASES 4676 \| NAP1L4 \| DISEASES 7054 \| TH \| DISEASES 6150 \| MRPL23 \| DISEASES 220164 \| DOK6 \| DISEASES 6833 \| ABCC8 \| DISEASES 126206 \| NLRP5 \| DISEASES 5077 \| PAX3 \| DISEASES 2719 \| GPC3 \| DISEASES 26468 \| LHX6 \| DISEASES 174 \| AFP \| DISEASES 115560 \| ZNF501 \| DISEASES 7702 \| ZNF143 \| DISEASES 1781 \| DYNC1I2 \| DISEASES 4308 \| TRPM1 \| DISEASES 2887 \| GRB10 \| DISEASES 64092 \| SAMSN1 \| DISEASES 57057 \| TBX20 \| DISEASES 3481 \| IGF2 \| DISEASES 64324 \| NSD1 \| DISEASES 26013 \| L3MBTL1 \| DISEASES 8910 \| SGCE \| DISEASES 7465 \| WEE1 \| DISEASES 5923 \| RASGRF1 \| DISEASES 29125 \| C11orf21 \| DISEASES 7697 \| ZNF138 \| DISEASES 55655 \| NLRP2 \| DISEASES 1028 \| CDKN1C \| DISEASES 346171 \| ZFP57 \| DISEASES 340526 \| RGAG4 \| DISEASES 5003 \| SLC22A18AS \| DISEASES 388015 \| RTL1 \| DISEASES 3939 \| LDHA \| DISEASES 199713 \| NLRP7 \| DISEASES 149775 \| GNAS-AS1 \| DISEASES 51214 \| IGF2-AS \| DISEASES 3653 \| IPW \| DISEASES 10984 \| KCNQ1OT1 \| DISEASES 55384 \| MEG3 \| DISEASES 8123 \| PWAR5 \| DISEASES 9383 \| TSIX \| DISEASES 7503 \| XIST \| DISEASES
Locus	(Waiting for update.)

Disease ID	476
Disease	beckwith-wiedemann syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:95) HP:0000269 \| Protruding occiput HP:0001539 \| Omphalocele HP:0000787 \| Nephrolithiasis HP:0001622 \| Premature birth HP:0001943 \| Hypoglycemia HP:0000073 \| Ureteral duplication HP:0000154 \| Wide mouth HP:0001638 \| Cardiomyopathy HP:0000269 \| Prominent occiput HP:0006254 \| Elevated alpha-fetoprotein HP:0001998 \| Low blood sugar in newborn HP:0002167 \| Neurological speech impairment HP:0003271 \| Visceromegaly HP:0001540 \| Diastasis recti HP:0000520 \| Anterior bulging of the globe of eye HP:0001738 \| Exocrine pancreatic insufficiency HP:0001901 \| Polycythemia HP:0000098 \| Tall stature HP:0000239 \| Persistent wide fontanel HP:0002667 \| Nephroblastoma HP:0005487 \| Prominent metopic ridge HP:0008676 \| Congenital megaureter HP:0005616 \| Early bone maturation HP:0001744 \| Splenomegaly HP:0001052 \| Nevus flammeus HP:0000260 \| Wide anterior fontanel HP:0006277 \| Pancreatic hyperplasia HP:0001528 \| Hemihypertrophy HP:0001305 \| Dandy-Walker cyst HP:0000280 \| Coarse facial features HP:0000995 \| Melanocytic nevus HP:0001513 \| Obesity HP:0001640 \| Cardiomegaly HP:0011800 \| Midface retrusion HP:0030255 \| Large intestinal polyposis HP:0005487 \| Ridging of metopic suture HP:0000028 \| Cryptorchidism HP:0002859 \| Rhabdomyosarcoma HP:0000776 \| Congenital diaphragmatic hernia HP:0006744 \| Adrenal carcinoma HP:0001139 \| Choroideremia HP:0006267 \| Large placenta HP:0000112 \| Nephropathy HP:0000363 \| Abnormality of earlobe HP:0008523 \| Ear, posterior helical notch HP:0001639 \| Hypertrophic cardiomyopathy HP:0002884 \| Hepatoblastoma HP:0003006 \| Neuroblastoma HP:0000105 \| Renal enlargement HP:0012090 \| Abnormality of pancreas morphology HP:0100243 \| Leiomyosarcoma HP:0002240 \| Enlarged liver HP:0005562 \| Multiple renal cysts HP:0002240 \| Hepatomegaly HP:0010535 \| Sleep apnea HP:0001548 \| Overgrowth HP:0003247 \| Overgrowth of external genitalia HP:0000821 \| Hypothyroidism HP:0000076 \| Vesicoureteral reflux HP:0000303 \| Mandibular prognathia HP:0012758 \| Neurodevelopmental delay HP:0000150 \| Gonadoblastoma HP:0000105 \| Enlarged kidney HP:0001537 \| Umbilical hernia HP:0005616 \| Accelerated skeletal maturation HP:0000175 \| Cleft palate HP:0001640 \| Increased heart size HP:0009908 \| Anterior creases of earlobe HP:0000158 \| Macroglossia HP:0100876 \| Infra-orbital crease HP:0000158 \| Abnormally large tongue HP:0000520 \| Proptosis HP:0002667 \| Wilms tumor HP:0001998 \| Neonatal hypoglycemia HP:0002150 \| Hypercalciuria HP:0030720 \| Subchorionic septal cyst HP:0000239 \| Large fontanelles HP:0100589 \| Urogenital fistula HP:0001520 \| Large for gestational age HP:0002664 \| Neoplasm HP:0002564 \| Malformation of the heart and great vessels HP:0001582 \| Redundant skin HP:0000329 \| Facial hemangioma HP:0006744 \| Adrenocortical carcinoma HP:0000023 \| Inguinal hernia HP:0008186 \| Adrenocortical cytomegaly HP:0009796 \| Branchial cyst HP:0000362 \| Otosclerosis HP:0000852 \| Pseudohypoparathyroidism HP:0002308 \| Arnold-Chiari malformation HP:0100555 \| Asymmetric growth HP:0008872 \| Feeding difficulties in infancy HP:0001561 \| Polyhydramnios HP:0008523 \| Posterior helix pit HP:0430026 \| Abnormality of the shape of the midface
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:11) HP:0000158 \| Abnormally large tongue \| 4 HP:0002884 \| Hepatoblastoma \| 2 HP:0000819 \| Diabetes mellitus \| 1 HP:0040075 \| Hypopituitarism \| 1 HP:0002901 \| Hypocalcemia \| 1 HP:0006733 \| Acute megakaryocytic leukemia \| 1 HP:0001943 \| Hypoglycemia \| 1 HP:0001909 \| Leukemia \| 1 HP:0001548 \| Overgrowth \| 1 HP:0100013 \| Tumours of the breast \| 1 HP:0001528 \| Hemihypertrophy \| 1

Disease ID	476
Disease	beckwith-wiedemann syndrome
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:3) C0206624 \| hepatoblastoma \| 2 C0020598 \| hypoglycemia \| 1 C0029166 \| oral manifestations \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:16)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104894200	NA	1028	CDKN1C	umls:C0004903	CLINVAR	NA	0.266088214	NA	CDKN1C	11	2884750	G	T
rs137852766	NA	1028	CDKN1C	umls:C0004903	CLINVAR	NA	0.266088214	NA	CDKN1C	11	2885351	G	A
rs267606716	NA	1028	CDKN1C	umls:C0004903	CLINVAR	NA	0.266088214	NA	CDKN1C	11	2884110	G	T,C
rs374740802	NA	64324	NSD1	umls:C0004903	CLINVAR	NA	0.243538676	NA	NSD1	5	177210749	C	G
rs387906399	NA	1028	CDKN1C	umls:C0004903	CLINVAR	NA	0.266088214	NA	CDKN1C	11	2885179	AG	C
rs587777866	NA	1028	CDKN1C	umls:C0004903	CLINVAR	NA	0.266088214	NA	CDKN1C	11	2883997	A	G
rs772704243	NA	1028	CDKN1C	umls:C0004903	CLINVAR	NA	0.266088214	NA	CDKN1C	11	2884840	-	CCGGGG
rs786205234	NA	1028	CDKN1C	umls:C0004903	CLINVAR	NA	0.266088214	NA	CDKN1C	11	2885041	G	-
rs786205235	NA	1028	CDKN1C	umls:C0004903	CLINVAR	NA	0.266088214	NA	CDKN1C	11	2885156	-	G
rs786205236	NA	1028	CDKN1C	umls:C0004903	CLINVAR	NA	0.266088214	NA	CDKN1C	11	2885089	-	C
rs786205237	NA	1028	CDKN1C	umls:C0004903	CLINVAR	NA	0.266088214	NA	CDKN1C	11	2884855	G	-
rs786205238	NA	1028	CDKN1C	umls:C0004903	CLINVAR	NA	0.266088214	NA	CDKN1C	11	2884854	-	GGGGCGGGGGCCGGGGCCGGGGCCG
rs786205239	NA	1028	CDKN1C	umls:C0004903	CLINVAR	NA	0.266088214	NA	CDKN1C	11	2884859	C	TT
rs786205240	NA	1028	CDKN1C	umls:C0004903	CLINVAR	NA	0.266088214	NA	CDKN1C	11	2884846	GCCG	CCC
rs786205241	NA	1028	CDKN1C	umls:C0004903	CLINVAR	NA	0.266088214	NA	CDKN1C	11	2884860	-	GGGGCCGGAGC
rs797045445	NA	1028	CDKN1C	umls:C0004903	CLINVAR	NA	0.266088214	NA	CDKN1C	11	2884796	G	A

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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