WVS
MCID: WVR001
MIFTS: 59
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Weaver Syndrome (WVS)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Weaver Syndrome:
Characteristics:Orphanet epidemiological data:58
weaver syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;
weaver-williams syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; OMIM:56
Inheritance:
autosomal dominant
Miscellaneous:
most cases are sporadic significant clinical overlap with sotos syndrome HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Bone diseases
ICD10:
33
Orphanet: 58
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Genetics Home Reference :
25
Weaver syndrome is a condition that involves tall stature with or without a large head size (macrocephaly), a variable degree of intellectual disability (usually mild), and characteristic facial features. These features can include a broad forehead; widely spaced eyes (hypertelorism); large, low-set ears; a dimpled chin, and a small lower jaw (micrognathia).
People with Weaver syndrome can also have joint deformities called contractures that restrict the movement of affected joints. The contractures may particularly affect the fingers and toes, resulting in permanently bent digits (camptodactyly). Other features of this disorder can include abnormal curvature of the spine (kyphoscoliosis); muscle tone that is either reduced (hypotonia) or increased (hypertonia); loose, saggy skin; and a soft-outpouching around the belly-button (umbilical hernia). Some affected individuals have abnormalities in the folds (gyri) of the brain, which can be seen by medical imaging; the relationship between these brain abnormalities and the intellectual disability associated with Weaver syndrome is unclear.
Researchers suggest that people with Weaver syndrome may have an increased risk of developing cancer, in particular a slightly increased risk of developing a tumor called neuroblastoma in early childhood, but the small number of affected individuals makes it difficult to determine the exact risk.
MalaCards based summary : Weaver Syndrome, also known as wss, is related to sotos syndrome 1 and overgrowth syndrome, and has symptoms including muscle spasticity An important gene associated with Weaver Syndrome is EZH2 (Enhancer Of Zeste 2 Polycomb Repressive Complex 2 Subunit), and among its related pathways/superpathways are Lysine degradation and Cellular Senescence (REACTOME). Affiliated tissues include bone, skin and brain, and related phenotypes are microcephaly and cleft palate Disease Ontology : 12 A syndrome that is characterized by prenatal and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay and has material basis in heterozygous mutation in the EZH2 gene on chromosome 7q36. NIH Rare Diseases : 52 Weaver syndrome is a rare condition that is characterized primarily by tall stature. Other signs and symptoms of the condition may include macrocephaly (unusually large head size); intellectual disability ; distinctive facial features; camptodactyly (permanently bent digits) of the fingers and/or toes; poor coordination; soft and doughy skin; umbilical hernia ; abnormal muscle tone; and a hoarse, low-pitched cry during infancy. Some studies also suggest that people affected by Weaver syndrome may have an increased risk of developing neuroblastoma . Weaver syndrome is usually caused by changes (mutations ) in the EZH2 gene . Although the condition is considered autosomal dominant , most cases occur as de novo mutations in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person. OMIM : 56 Weaver syndrome comprises pre- and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay. Most cases are sporadic, although autosomal dominant inheritance has been reported. Although there is phenotypic overlap between Weaver syndrome and Sotos syndrome (117550), distinguishing features of Weaver syndrome include broad forehead and face, ocular hypertelorism, prominent wide philtrum, micrognathia, deep horizontal chin groove, and deep-set nails. In addition, carpal bone development is advanced over the rest of the hand in Weaver syndrome, whereas in Sotos syndrome carpal bone development is at or behind that of the rest of the hand (summary by Basel-Vanagaite, 2010). Sotos syndrome (117550), which shows considerable phenotypic overlap with Weaver syndrome, is caused by mutation in the NSD1 gene (601573) on chromosome 5q35. Other 'Weaver-like' syndromes include Cohen-Gibson syndrome (COGIS; 617561), caused by heterozygous mutation in the EED gene (605984) on chromosome 11q14; and Imagawa-Matsumoto syndrome (IMMAS; 618786), caused by heterozygous mutation in the SUZ12 gene (606245) on chromosome 17q11. The 'Weaver-like' syndrome reported by Stoll et al. (1985) in a mother and son may be a separate entity. (277590) KEGG : 36 Weaver syndrome (WS) is an overgrowth syndrome, characterized by tall stature, a typical facial appearance, and variable intellectual disability. Although there is phenotypic overlap between Weaver syndrome and Sotos syndrome, WS patients have additional clinical features including camptodactyly, doughy skin, umbilical hernia, and a low hoarse cry. Recently, mutations in the histone methyltransferase, EZH2, were shown to cause WS. UniProtKB/Swiss-Prot : 73 Weaver syndrome: A syndrome of accelerated growth and osseous maturation, unusual craniofacial appearance, hoarse and low-pitched cry, and hypertonia with camptodactyly. Distinguishing features of Weaver syndrome include broad forehead and face, ocular hypertelorism, prominent wide philtrum, micrognathia, deep horizontal chin groove, and deep-set nails. In addition, carpal bone development is advanced over the rest of the hand. Wikipedia : 74 Weaver syndrome is a rare autosomal dominant genetic disorder associated with rapid growth beginning in... more... |
Human phenotypes related to Weaver Syndrome:58 31 (show top 50) (show all 89)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:277590UMLS symptoms related to Weaver Syndrome:muscle spasticity MGI Mouse Phenotypes related to Weaver Syndrome:45
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Cochrane evidence based reviews: weaver-like syndrome |
MalaCards organs/tissues related to Weaver Syndrome:40
Bone,
Skin,
Brain,
Eye,
Heart,
Testis,
Myeloid
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Articles related to Weaver Syndrome:(show top 50) (show all 119)
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ClinVar genetic disease variations for Weaver Syndrome:6 (show top 50) (show all 215)
UniProtKB/Swiss-Prot genetic disease variations for Weaver Syndrome:73 (show all 11)
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Search
GEO
for disease gene expression data for Weaver Syndrome.
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Pathways related to Weaver Syndrome according to KEGG:36
Pathways related to Weaver Syndrome according to GeneCards Suite gene sharing:
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Cellular components related to Weaver Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Weaver Syndrome according to GeneCards Suite gene sharing:(show all 17)
Molecular functions related to Weaver Syndrome according to GeneCards Suite gene sharing:
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