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	beckwith wiedemann syndrome

Disease ID	166
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's syndrome beckwith-wiedemann 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:13) C0162635 \| angelman syndrome \| 2 C0206624 \| hepatoblastoma \| 2 C0023462 \| acute megakaryocytic leukemia \| 1 C0013884 \| lymphatic filariasis \| 1 C0020598 \| hypoglycemia \| 1 C0020459 \| hyperinsulinism \| 1 C0037315 \| sleep-disordered breathing \| 1 C0023418 \| leukemia \| 1 C0085652 \| pyoderma gangrenosum \| 1 C0035305 \| retinal detachment \| 1 C0020635 \| hypopituitarism \| 1 C0034212 \| pyoderma \| 1 C0016085 \| filariasis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:7) 1028 \| CDKN1C \| CLINVAR;CTD_human;GHR;UNIPROT 3481 \| IGF2 \| CTD_human;GHR;UNIPROT 3388 \| ICR1 \| CLINVAR 64324 \| NSD1 \| CLINVAR;CTD_human;UNIPROT 283120 \| H19 \| CLINVAR;CTD_human 10984 \| KCNQ1OT1 \| CLINVAR;CTD_human 5002 \| SLC22A18 \| UNIPROT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:5) 3481 \| IGF2 \| CIPHER;CTD_human 1028 \| CDKN1C \| CTD_human 283120 \| H19 \| CTD_human 10984 \| KCNQ1OT1 \| CTD_human 64324 \| NSD1 \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:81) 65985 \| AACS \| 1.709 \| DISEASES 6833 \| ABCC8 \| 3.752 \| DISEASES 174 \| AFP \| 2.451 \| DISEASES 257 \| ALX3 \| 1.008 \| DISEASES 430 \| ASCL2 \| 4.498 \| DISEASES 29125 \| C11orf21 \| 3.517 \| DISEASES 796 \| CALCA \| 1.182 \| DISEASES 11335 \| CBX3 \| 1.646 \| DISEASES 1028 \| CDKN1C \| 7.171 \| DISEASES 51286 \| CEND1 \| 2.568 \| DISEASES 1499 \| CTNNB1 \| 1.254 \| DISEASES 1520 \| CTSS \| 1.435 \| DISEASES 8788 \| DLK1 \| 2.881 \| DISEASES 1786 \| DNMT1 \| 1.675 \| DISEASES 220164 \| DOK6 \| 3.147 \| DISEASES 1781 \| DYNC1I2 \| 5.791 \| DISEASES 2268 \| FGR \| 1.084 \| DISEASES 2308 \| FOXO1 \| 1.213 \| DISEASES 2778 \| GNAS \| 3.631 \| DISEASES 149775 \| GNAS-AS1 \| 4.376 \| DISEASES 2719 \| GPC3 \| 2.319 \| DISEASES 2239 \| GPC4 \| 1.987 \| DISEASES 2887 \| GRB10 \| 4.144 \| DISEASES 3043 \| HBB \| 1.005 \| DISEASES 3481 \| IGF2 \| 6.795 \| DISEASES 51214 \| IGF2-AS \| 3.193 \| DISEASES 3482 \| IGF2R \| 3.769 \| DISEASES 723961 \| INS-IGF2 \| 2.202 \| DISEASES 3653 \| IPW \| 2.017 \| DISEASES 3767 \| KCNJ11 \| 2.868 \| DISEASES 10984 \| KCNQ1OT1 \| 7.47 \| DISEASES 154288 \| KHDC3L \| 3.354 \| DISEASES 26013 \| L3MBTL1 \| 1.818 \| DISEASES 3939 \| LDHA \| 1.216 \| DISEASES 26468 \| LHX6 \| 2.162 \| DISEASES 4004 \| LMO1 \| 2.505 \| DISEASES 55384 \| MEG3 \| 2.871 \| DISEASES 10367 \| MICU1 \| 1.321 \| DISEASES 6150 \| MRPL23 \| 3.734 \| DISEASES 22921 \| MSRB2 \| 2.103 \| DISEASES 4676 \| NAP1L4 \| 5.384 \| DISEASES 55655 \| NLRP2 \| 3.728 \| DISEASES 126206 \| NLRP5 \| 2.215 \| DISEASES 199713 \| NLRP7 \| 3.571 \| DISEASES 64324 \| NSD1 \| 3.163 \| DISEASES 5077 \| PAX3 \| 1.161 \| DISEASES 5081 \| PAX7 \| 2.556 \| DISEASES 5178 \| PEG3 \| 3.602 \| DISEASES 5324 \| PLAG1 \| 1.093 \| DISEASES 5325 \| PLAGL1 \| 3.991 \| DISEASES 8123 \| PWAR5 \| 2.574 \| DISEASES 5923 \| RASGRF1 \| 1.555 \| DISEASES 340526 \| RGAG4 \| 2.663 \| DISEASES 388015 \| RTL1 \| 1.84 \| DISEASES 64092 \| SAMSN1 \| 2.329 \| DISEASES 8910 \| SGCE \| 2.37 \| DISEASES 6566 \| SLC16A1 \| 2.369 \| DISEASES 5003 \| SLC22A18AS \| 4.402 \| DISEASES 6609 \| SMPD1 \| 1.316 \| DISEASES 10253 \| SPRY2 \| 1.298 \| DISEASES 6711 \| SPTBN1 \| 2.716 \| DISEASES 57057 \| TBX20 \| 1.613 \| DISEASES 7054 \| TH \| 1.777 \| DISEASES 4308 \| TRPM1 \| 2.26 \| DISEASES 9383 \| TSIX \| 3.066 \| DISEASES 10078 \| TSSC4 \| 4.947 \| DISEASES 7465 \| WEE1 \| 1.724 \| DISEASES 7485 \| WRB \| 1.626 \| DISEASES 7490 \| WT1 \| 3.311 \| DISEASES 7503 \| XIST \| 2.607 \| DISEASES 7709 \| ZBTB17 \| 1.976 \| DISEASES 346171 \| ZFP57 \| 4.081 \| DISEASES 7586 \| ZKSCAN1 \| 2.215 \| DISEASES 7692 \| ZNF133 \| 2.593 \| DISEASES 7697 \| ZNF138 \| 3.249 \| DISEASES 7702 \| ZNF143 \| 2.707 \| DISEASES 7707 \| ZNF148 \| 1.68 \| DISEASES 51710 \| ZNF44 \| 1.593 \| DISEASES 115560 \| ZNF501 \| 1.633 \| DISEASES 148266 \| ZNF569 \| 1.605 \| DISEASES 284390 \| ZNF763 \| 1.633 \| DISEASES
Locus	(Waiting for update.)

Disease ID	166
Disease	beckwith wiedemann syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:26) HP:0000028 \| Cryptorchidism HP:0002240 \| Enlarged liver HP:0000158 \| Abnormally large tongue HP:0000239 \| Persistent wide fontanel HP:0000105 \| Renal enlargement HP:0002884 \| Hepatoblastoma HP:0008186 \| Adrenocortical cytomegaly HP:0001540 \| Diastasis recti HP:0000150 \| Gonadoblastoma HP:0003247 \| Overgrowth of external genitalia HP:0001528 \| Hemihypertrophy HP:0001548 \| Overgrowth HP:0002667 \| Wilms tumor HP:0001998 \| Low blood sugar in newborn HP:0005487 \| Ridging of metopic suture HP:0001305 \| Dandy-Walker cyst HP:0000269 \| Protruding occiput HP:0008523 \| Ear, posterior helical notch HP:0001539 \| Omphalocele HP:0005616 \| Early bone maturation HP:0006744 \| Adrenal carcinoma HP:0001638 \| Cardiomyopathy HP:0000520 \| Anterior bulging of the globe of eye HP:0006277 \| Pancreatic hyperplasia HP:0001640 \| Increased heart size HP:0000280 \| Coarse facial features
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:13) HP:0000158 \| Abnormally large tongue \| 5 HP:0002884 \| Hepatoblastoma \| 2 HP:0040075 \| Hypopituitarism \| 1 HP:0001548 \| Overgrowth \| 1 HP:0000541 \| Detached retina \| 1 HP:0100013 \| Tumours of the breast \| 1 HP:0000819 \| Diabetes mellitus \| 1 HP:0000999 \| Pyoderma \| 1 HP:0001943 \| Hypoglycemia \| 1 HP:0001909 \| Leukemia \| 1 HP:0006733 \| Acute megakaryocytic leukemia \| 1 HP:0002901 \| Hypocalcemia \| 1 HP:0001528 \| Hemihypertrophy \| 1

Disease ID	166
Disease	beckwith wiedemann syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:1) C0268242 \| sphingomyelinase deficiency
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:3) C0206624 \| hepatoblastoma \| 2 C0020598 \| hypoglycemia \| 1 C0029166 \| oral manifestations \| 1

Manually Genotype(Total Manually Genotypes:1)
Gene	Mutation	DOI	Article Title
CDKN1C	-	doi:10.1038/gim.2015.51	Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability

Text Mining Genotype(Total 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:3)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0006744	Adrenocortical carcinoma	MP:0010367	increased spindle cell carcinoma incidence	greater than the expected number of a highly malignant variant of squamous cell carcinoma, occurring in a specific population in a given time period; spindle cell carcinoma shows biphasic proliferation of conventional SCC component and malignant spindle s
HP:0000280	Coarse facial features	MP:0008018	increased facial tumor incidence	greater than the expected number of neoplasms on the face, usually in the form of a distinct mass, in a specific population in a given time period
HP:0005616	Accelerated skeletal maturation	MP:0003378	early sexual maturation	pubertal changes occur at an earlier than normal age

Mapped by homologous gene(Total Items:25)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001528	Hemihypertrophy	MP:0014171	increased fatty acid oxidation	increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr
HP:0008186	Adrenocortical cytomegaly	MP:0011098	embryonic lethality during organogenesis, complete penetrance	death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14)
HP:0006744	Adrenocortical carcinoma	MP:0013886	increased CD4-negative, CD25-positive NK T cell number	increase in the number of CD4-negative NK T cells expressing the activation marker CD25
HP:0001640	Cardiomegaly	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0001548	Overgrowth	MP:0020321	increased vascular endothelial cell apoptosis	increase in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0005616	Accelerated skeletal maturation	MP:0020010	decreased bone mineral density of femur	reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh
HP:0000105	Enlarged kidneys	MP:0013723	increased circulating tyrosine level	the amount of the amino acid histidine in the blood is more than expected
HP:0001638	Cardiomyopathy	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0006277	Pancreatic hyperplasia	MP:0011098	embryonic lethality during organogenesis, complete penetrance	death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14)
HP:0002240	Hepatomegaly	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0002667	Nephroblastoma (Wilms tumor)	MP:0013886	increased CD4-negative, CD25-positive NK T cell number	increase in the number of CD4-negative NK T cells expressing the activation marker CD25
HP:0003247	Overgrowth of external genitalia	MP:0011098	embryonic lethality during organogenesis, complete penetrance	death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14)
HP:0000269	Prominent occiput	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0001539	Omphalocele	MP:0020169	increased thyroid gland weight	higher than average weight of the thyroid gland
HP:0000028	Cryptorchidism	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0000158	Macroglossia	MP:0020169	increased thyroid gland weight	higher than average weight of the thyroid gland
HP:0001305	Dandy-Walker malformation	MP:0013785	abnormal mammary gland bud morphology	any structural anomaly of the morphologically distinct bulb of epithelial cells formed once each mammary placode expands and invaginates into the underlying mesenchyme; in mouse embryos at E12.5, each epithelial bud with its contiguous mesenchyme is eleva
HP:0001998	Neonatal hypoglycemia	MP:0014198	absent pituitary infundibular stalk	absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland
HP:0000520	Proptosis	MP:0020321	increased vascular endothelial cell apoptosis	increase in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0000150	Gonadoblastoma	MP:0013745	abnormal eyelid margin morphology	any structural anomaly of the confluence of the mucosal surface of the conjunctiva, the edge of the orbicularis, and the cutaneous epithelium
HP:0002884	Hepatoblastoma	MP:0011098	embryonic lethality during organogenesis, complete penetrance	death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14)
HP:0000280	Coarse facial features	MP:0020169	increased thyroid gland weight	higher than average weight of the thyroid gland
HP:0005487	Prominent metopic ridge	MP:0014125	decreased amylin secretion	reduction in the production or release of the polypeptide hormone that is normally co-secreted with insulin by the beta cells of the pancreatic islets of Langerhans and is known to inhibit glucagon secretion, delay gastric emptying, and act as a satiety a
HP:0001540	Diastasis recti	MP:0014185	cerebellum atrophy	acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal
HP:0000239	Large fontanelles	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals

Disease ID	166
Disease	beckwith wiedemann syndrome
Case	(Waiting for update.)