PedAM

Pediatric Disease Annotations & Medicines


	williams-beuren syndrome

Disease ID	628
Disease	williams-beuren syndrome
Definition	A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy.
Synonym	aortic stenoses, hypercalcemia-supravalvar aortic stenosis, hypercalcemia-supravalvar beuren syndrome beuren syndrome williams chromosome 7q11.23 deletion syndrome chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb contiguous gene syndrome, williams elfin facies syndrome fanconi schlesinger syndrome hypercalcemia supravalvar aortic stenosis hypercalcemia, infantile idiopathic hypercalcemia-supravalvar aortic stenoses hypercalcemia-supravalvar aortic stenosis stenoses, hypercalcemia-supravalvar aortic stenosis, hypercalcemia-supravalvar aortic supravalvar aortic stenosis syndrome syndrome william beuren syndrome williams syndrome, beuren syndrome, williams syndrome, williams-beuren william syndrome williams barratt syndrome williams beuren syndrome williams contiguous gene syndrome williams syndrome williams syndrome (disorder) williams syndrome [disease/finding] williams' syndrome williams-beuren syndrome (wbs) wms
Orphanet	ORPHANET:904
OMIM	OMIM:194050
DOID	DOID:1928
UMLS	C0175702
MeSH	D018980
SNOMED-CT	SNOMEDCT_US_2016_09_01:63247009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:20) C0022578 \| keratoconus \| 2 C0852949 \| arteriopathy \| 2 C0003507 \| aortic stenosis \| 2 C0020538 \| hypertension \| 2 C0156273 \| bladder diverticula \| 1 C0003499 \| supravalvular aortic stenosis \| 1 C0042373 \| vascular disease \| 1 C0013990 \| emphysema \| 1 C0020437 \| hypercalcemia \| 1 C0026769 \| multiple sclerosis \| 1 C0025362 \| mental retardation \| 1 C0003507 \| valvular aortic stenosis \| 1 C0007570 \| celiac disease \| 1 C0016667 \| fragile x syndrome \| 1 C0014848 \| achalasia \| 1 C0004352 \| autism \| 1 C0004352 \| autistic disorder \| 1 C0018203 \| chronic granulomatous disease \| 1 C0036439 \| scoliosis \| 1 C0021053 \| immune disease \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:10) ELN \| 2006 \| CTD_human;ORPHANET TBL2 \| 26608 \| ORPHANET RFC2 \| 5982 \| ORPHANET BCL7B \| 9275 \| UniProtKB-KW GTF2IRD1 \| 9569 \| CTD_human;ORPHANET BAZ1B \| 9031 \| CTD_human;ORPHANET;UniProtKB-KW GTF2I \| 2969 \| CTD_human;ORPHANET DLG4 \| 1742 \| CTD_human CLIP2 \| 7461 \| ORPHANET LIMK1 \| 3984 \| ORPHANET;UniProtKB-KW
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 2006 \| ELN \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:143) 64132 \| XYLT2 \| DISEASES 2554 \| GABRA1 \| DISEASES 3224 \| HOXC8 \| DISEASES 5982 \| RFC2 \| DISEASES 4335 \| MNT \| DISEASES 29992 \| PILRA \| DISEASES 6820 \| SULT2B1 \| DISEASES 9274 \| BCL7C \| DISEASES 7380 \| UPK3A \| DISEASES 1591 \| CYP24A1 \| DISEASES 64743 \| WDR13 \| DISEASES 3696 \| ITGB8 \| DISEASES 1749 \| DLX5 \| DISEASES 83451 \| ABHD11 \| DISEASES 6804 \| STX1A \| DISEASES 9275 \| BCL7B \| DISEASES 7461 \| CLIP2 \| DISEASES 6928 \| HNF1B \| DISEASES 2483 \| FRG1 \| DISEASES 4618 \| MYF6 \| DISEASES 1746 \| DLX2 \| DISEASES 1179 \| CLCA1 \| DISEASES 10459 \| MAD2L2 \| DISEASES 6945 \| MLX \| DISEASES 85378 \| TUBGCP6 \| DISEASES 2006 \| ELN \| DISEASES 8468 \| FKBP6 \| DISEASES 3110 \| MNX1 \| DISEASES 80761 \| UPK3B \| DISEASES 51455 \| REV1 \| DISEASES 7572 \| ZNF24 \| DISEASES 4001 \| LMNB1 \| DISEASES 4016 \| LOXL1 \| DISEASES 2201 \| FBN2 \| DISEASES 7348 \| UPK1B \| DISEASES 7531 \| YWHAE \| DISEASES 7458 \| EIF4H \| DISEASES 7462 \| LAT2 \| DISEASES 60496 \| AASDHPPT \| DISEASES 5741 \| PTH \| DISEASES 8467 \| SMARCA5 \| DISEASES 10428 \| CFDP1 \| DISEASES 9407 \| TMPRSS11D \| DISEASES 378108 \| TRIM74 \| DISEASES 653361 \| NCF1 \| DISEASES 56979 \| PRDM9 \| DISEASES 114788 \| CSMD3 \| DISEASES 89832 \| CHRFAM7A \| DISEASES 7532 \| YWHAG \| DISEASES 8493 \| PPM1D \| DISEASES 10484 \| SEC23A \| DISEASES 26608 \| TBL2 \| DISEASES 389524 \| GTF2IRD2B \| DISEASES 23592 \| LEMD3 \| DISEASES 55695 \| NSUN5 \| DISEASES 30008 \| EFEMP2 \| DISEASES 1579 \| CYP4A11 \| DISEASES 4867 \| NPHP1 \| DISEASES 375593 \| TRIM73 \| DISEASES 10734 \| STAG3 \| DISEASES 155382 \| VPS37D \| DISEASES 51085 \| MLXIPL \| DISEASES 78987 \| CRELD1 \| DISEASES 2969 \| GTF2I \| DISEASES 7329 \| UBE2I \| DISEASES 2200 \| FBN1 \| DISEASES 23347 \| SMCHD1 \| DISEASES 24140 \| FTSJ1 \| DISEASES 135892 \| TRIM50 \| DISEASES 64409 \| WBSCR17 \| DISEASES 55670 \| PEX26 \| DISEASES 29035 \| C16orf72 \| DISEASES 9939 \| RBM8A \| DISEASES 79087 \| ALG12 \| DISEASES 3984 \| LIMK1 \| DISEASES 10608 \| MXD4 \| DISEASES 23462 \| HEY1 \| DISEASES 23136 \| EPB41L3 \| DISEASES 347344 \| ZNF81 \| DISEASES 9031 \| BAZ1B \| DISEASES 1364 \| CLDN4 \| DISEASES 2138 \| EYA1 \| DISEASES 79648 \| MCPH1 \| DISEASES 7874 \| USP7 \| DISEASES 26053 \| AUTS2 \| DISEASES 1102 \| RCBTB2 \| DISEASES 8326 \| FZD9 \| DISEASES 9863 \| MAGI2 \| DISEASES 23237 \| ARC \| DISEASES 6477 \| SIAH1 \| DISEASES 4763 \| NF1 \| DISEASES 157680 \| VPS13B \| DISEASES 5980 \| REV3L \| DISEASES 55503 \| TRPV6 \| DISEASES 11177 \| BAZ1A \| DISEASES 26047 \| CNTNAP2 \| DISEASES 5455 \| POU3F3 \| DISEASES 7062 \| TCHH \| DISEASES 1755 \| DMBT1 \| DISEASES 2332 \| FMR1 \| DISEASES 22802 \| CLCA4 \| DISEASES 9635 \| CLCA2 \| DISEASES 6594 \| SMARCA1 \| DISEASES 6005 \| RHAG \| DISEASES 9124 \| PDLIM1 \| DISEASES 10718 \| NRG3 \| DISEASES 1907 \| EDN2 \| DISEASES 9355 \| LHX2 \| DISEASES 1104 \| RCC1 \| DISEASES 2140 \| EYA3 \| DISEASES 2304 \| FOXE1 \| DISEASES 3014 \| H2AFX \| DISEASES 8928 \| FOXH1 \| DISEASES 448831 \| FRG2 \| DISEASES 7020 \| TFAP2A \| DISEASES 7222 \| TRPC3 \| DISEASES 3704 \| ITPA \| DISEASES 353497 \| POLN \| DISEASES 9205 \| ZMYM5 \| DISEASES 1365 \| CLDN3 \| DISEASES 84277 \| DNAJC30 \| DISEASES 83698 \| CALN1 \| DISEASES 5048 \| PAFAH1B1 \| DISEASES 50614 \| GALNT9 \| DISEASES 4839 \| NOP2 \| DISEASES 23028 \| KDM1A \| DISEASES 2160 \| F11 \| DISEASES 9378 \| NRXN1 \| DISEASES 84163 \| GTF2IRD2 \| DISEASES 60491 \| NIF3L1 \| DISEASES 1111 \| CHEK1 \| DISEASES 64324 \| NSD1 \| DISEASES 9569 \| GTF2IRD1 \| DISEASES 114049 \| WBSCR22 \| DISEASES 1139 \| CHRNA7 \| DISEASES 1012 \| CDH13 \| DISEASES 34 \| ACADM \| DISEASES 79813 \| EHMT1 \| DISEASES 1750 \| DLX6 \| DISEASES 3347 \| HTN3 \| DISEASES 4090 \| SMAD5 \| DISEASES 605 \| BCL7A \| DISEASES 9063 \| PIAS2 \| DISEASES
Locus	(Waiting for update.)

Disease ID	628
Disease	williams-beuren syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:7) HP:0000691 \| Decreased width of tooth HP:0004322 \| Stature below 3rd percentile HP:0000232 \| Everted prominent lower lip HP:0001249 \| Mental retardation HP:0001650 \| Valvular aortic stenosis HP:0000736 \| Short attention span HP:0000272 \| Depressed malar region
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:24) HP:0001650 \| Valvular aortic stenosis \| 2 HP:0000563 \| Conical cornea \| 2 HP:0000822 \| Hypertension \| 2 HP:0002960 \| Autoimmune condition \| 1 HP:0002608 \| Celiac disease \| 1 HP:0004381 \| Supravalvular aortic stenosis \| 1 HP:0002597 \| Abnormality of blood vessels \| 1 HP:0007700 \| Anterior segment dysgenesis \| 1 HP:0001680 \| Coarctation of aorta \| 1 HP:0001695 \| Cardiac arrest \| 1 HP:0012619 \| Multiple pouches in bladder wall \| 1 HP:0000015 \| Bladder diverticula \| 1 HP:0000089 \| Small kidneys \| 1 HP:0000717 \| Autism \| 1 HP:0100543 \| Cognitive deficits \| 1 HP:0003072 \| Hypercalcemia \| 1 HP:0002463 \| Language impairment \| 1 HP:0002571 \| Achalasia \| 1 HP:0002097 \| Pulmonary emphysema \| 1 HP:0001249 \| Mental retardation \| 1 HP:0030680 \| Abnormality of cardiovascular system morphology \| 1 HP:0100033 \| Tic disorder \| 1 HP:0002650 \| Scoliosis \| 1 HP:0004415 \| Pulmonary artery stenosis \| 1

Disease ID	628
Disease	williams-beuren syndrome
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:5) C0003507 \| aortic stenosis \| 2 C0852949 \| arteriopathy \| 2 C0042373 \| vascular disease \| 1 C0013990 \| emphysema \| 1 C0003499 \| supravalvular aortic stenosis \| 1

Manually Genotype(Total Text Mining Genotypes:0)
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All Snps(Total Genotypes:0)
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GWASdb Annotation(Total Genotypes:0)
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GWASdb Snp Trait(Total Genotypes:0)
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Mapped by lexical matching(Total Items:0)
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Mapped by homologous gene(Total Items:0)
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Chemical(Total Drugs:0)
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FDA approved drug and dosage information(Total Drugs:0)
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FDA labeling changes(Total Drugs:0)
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