Williams Syndrome

Watchlist

(log in to enable)

Retrieved

2022-04-26

Source

Gard

Trials

—

Genes

GTF2IRD1, BAZ1B, GTF2I, LIMK1, DLG4, ELN, MLXIPL, FKBP6, CLIP2, FZD9, EIF4H, LOX, SRC, FBN1, STX1A, ADAMTS17, GTF2IRD2, ADAMTS10, NCF1, RFC2, CALCA, FZD3, NSUN5, BCL7B, LAT2, WRN, S100A12, ARSD, PDLIM1, GTF2IP1, CDKN1C, BUD23, H2AX, ATR, ZRS, DECR1, CLDN3, CLDN4, CTCF, ZNF763, DNAJC30, PDLIM5, ADAMTSL2, ZNF629, TRIM73, TRIM74, PLF, STAG3, CBLL2, PRPF31, EBPL, ZNF569, TBL2, SIRPA, PCLO, TRIM50, ZNF501, ZNF44, TRPV6, PRDM9, NSD1, MUL1, ZNF436, RCC1L, ACTB, VDR, HSPB3, ELK3, LTBP2, HTC2, HSPB2, HSPB1, GABRA1, FRA7G, FMR1, DMBT1, FZD1, DDX11, COX8A, CALCR, CACNA2D1, SERPING1, BCL7A, AVP, SMAD1, MBNL1, NCF4, PRKN, FZD5, ZNF143, ZNF24, TRPC3, TG, HNF1B, SYN1, SPRR2A, CLIP1, POMC, PMS2, PMP22, PLS3, SERPINA1, PCNA, WBSCR23

Drugs

—

Interested in hearing about new therapies?

Williams syndrome is a genetic condition that affects many parts of the body. Signs and symptoms include mild to moderate intellectual disability; unique personality traits; distinctive facial features; and heart and blood vessel problems. Williams syndrome is caused by a person missing more than 25 genes from a specific area of chromosome 7 (a "deletion"). The loss of these genes contributes to the characteristic features. Although Williams syndrome is an autosomal dominant condition, most cases are not inherited and occur sporadically in people with no family history of Williams syndrome. Treatments are based on each person's signs and symptoms, as there is no cure at this time.