WVS
MCID: WVR001
MIFTS: 56

Weaver Syndrome (WVS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Weaver Syndrome

MalaCards integrated aliases for Weaver Syndrome:

Name: Weaver Syndrome 57 12 74 20 43 58 73 36 29 13 54 6 15 39 71
Wss 57 20 43 73
Weaver-Smith Syndrome 57 43 73
Camptodactyly-Overgrowth-Unusual Facies Syndrome 20 58
Weaver-Williams Syndrome 12 58
Weaver-Like Syndrome 12 44
Wvs 57 73
Mental Retardation, Microcephaly, Weight Deficiency, Unusual Facies, Clinodactyly, Bone Hypoplasia, and Cleft Palate 20
Overgrowth Syndrome with Accelerated Skeletal Maturation, Unusual Facies, and Camptodactyly 20
Camptodactyly - Overgrowth - Unusual Facies 20
Camptodactyly-Overgrowth-Unusual Facies 43
Weaver-Smith Syndrome; Wss 57
Weaver Williams Syndrome 20
Ezh2 Related Overgrowth 20
Weaver Syndrome, Type 2 39
Weaver Smith Syndrome 20
Weaver Like Syndrome 20
Weaver Syndrome 1 73
Weaver Syndrome 2 73
Wvs1 73
Wvs2 73

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®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
most cases are sporadic
significant clinical overlap with sotos syndrome


HPO:

31
weaver syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Weaver Syndrome

MedlinePlus Genetics : 43 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, heart and testis, 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.

GARD : 20 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® : 57 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) (Updated 05-Mar-2021)

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...

Related Diseases for Weaver Syndrome

Diseases related to Weaver Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 115)
# Related Disease Score Top Affiliating Genes
1 sotos syndrome 1 31.4 ZNF496 SETD2 PWWP2B NSD3 NSD1 KMT2D
2 overgrowth syndrome 31.4 SETD2 NSD1 DNMT3A
3 rahman syndrome 30.3 H1-4 DNMT3A
4 beckwith-wiedemann syndrome 30.2 NSD1 KDM4C H2AC18 DNMT3A
5 leukemia, acute myeloid 29.9 SUZ12 SETD2 NSD1 KDM4C H3-2 H2AC18
6 wrinkly skin syndrome 11.5
7 wiedemann-steiner syndrome 11.5
8 woodhouse-sakati syndrome 11.3
9 diffuse midline glioma, h3 k27m-mutant 10.4 H3-2 H2AC18 EZH2
10 testicular spermatocytic seminoma 10.4 MAGEA4 DNMT3A
11 rhabdoid cancer 10.4 KDM4C H2AC18 EZH2
12 chronic leukemia 10.3 KDM4C H2AC18 DNMT3A
13 nut midline carcinoma 10.3 NSD3 KDM4C H2AC18
14 cartilage-hair hypoplasia 10.3 H3-2 H2AC18 DNMT3A
15 carbohydrate metabolic disorder 10.3 KDM4C H3-2 H2AC18
16 alpha thalassemia-x-linked intellectual disability syndrome 10.3 NSD1 H3-2 H2AC18 DNMT3A
17 hypotrichosis 1 10.3 KDM4C H3-2 H2AC18
18 ezh2-related overgrowth 10.3
19 mental retardation, x-linked, syndromic, claes-jensen type 10.3 PWWP2B KDM4C
20 bone marrow cancer 10.3 KDM4C H2AC18 EZH2 DNMT3A
21 childhood acute myeloid leukemia 10.3 NSD3 NSD1 EZH2 DNMT3A
22 immunodeficiency-centromeric instability-facial anomalies syndrome 10.3 SUZ12 H3-2 H2AC18 DNMT3A
23 mature t-cell and nk-cell lymphoma 10.3 KDM4C H3-2 H2AC18 DNMT3A
24 chromosomal duplication syndrome 10.3 KDM4C KCNJ6 H2AC18
25 epilepsy, idiopathic generalized 2 10.3 H3-2 H2AC18
26 retinal cancer 10.3 KDM4C H3-2 H2AC18
27 chromosomal deletion syndrome 10.3 KDM4C H2AC18 EHMT1
28 retinitis pigmentosa 11 10.3 KDM4C H3-2 H2AC18
29 alacrima, achalasia, and mental retardation syndrome 10.2
30 autosomal dominant non-syndromic intellectual disability 10.2 NSD1 KMT2D H2AC18 EZH2 EHMT1
31 wolf-hirschhorn syndrome 10.2 SETD2 NSD3 NSD1 H3-2 H2AC18
32 inherited metabolic disorder 10.2 KDM4C H3-2 H2AC18
33 brain stem cancer 10.2 KDM4C H2AC18
34 kleefstra syndrome 10.2 NSD1 KMT2D KDM4C H3-2 H2AC18 EHMT1
35 hyperoxaluria, primary, type i 10.2 KDM4C H3-2 H2AC18 H1-4 EZH2 DNMT3A
36 primary hyperoxaluria 10.2 KDM4C H3-2 H2AC18 H1-4 EZH2 DNMT3A
37 eed-related overgrowth 10.2
38 myeloma, multiple 10.1 KMT2D KDM4C H2AC18 H1-4 EZH2 DNMT3A
39 kabuki syndrome 1 10.1 NSD1 KMT2D KDM4C H3-2 H2AC18 EZH2
40 plasma cell neoplasm 10.1 KMT2D H1-4 DNMT3A
41 aneurysm 10.1
42 chromosome 16p13.3 deletion syndrome, proximal 10.1 NSD1 KMT2D KDM4C H3-2 H2AC18 EHMT1
43 kleefstra syndrome 1 10.1 ZNF496 PWWP2B NSD3 NSD1 KDM4C H2AC18
44 hypertelorism 10.1
45 ataxia and polyneuropathy, adult-onset 10.1
46 cohen-gibson syndrome 10.1
47 neuroblastoma 10.1
48 hypertonia 10.1
49 neuropathy, hereditary sensory, type ie 10.1 NSD1 DNMT3A
50 spastic quadriplegia 10.1

Graphical network of the top 20 diseases related to Weaver Syndrome:



Diseases related to Weaver Syndrome

Symptoms & Phenotypes for Weaver Syndrome

Human phenotypes related to Weaver Syndrome:

58 31 (show top 50) (show all 88)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 58 31 obligate (100%) Obligate (100%) HP:0000252
2 cleft palate 58 31 obligate (100%) Obligate (100%) HP:0000175
3 narrow mouth 58 31 obligate (100%) Obligate (100%) HP:0000160
4 protruding ear 58 31 obligate (100%) Obligate (100%) HP:0000411
5 intellectual disability, moderate 58 31 obligate (100%) Obligate (100%) HP:0002342
6 decreased body weight 58 31 obligate (100%) Obligate (100%) HP:0004325
7 macrocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000256
8 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
9 spasticity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001257
10 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
11 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
12 macrotia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000400
13 abnormality of the metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000944
14 retrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000278
15 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
16 hypoplastic toenails 58 31 hallmark (90%) Very frequent (99-80%) HP:0001800
17 abnormal fingernail morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0001231
18 low-set, posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000368
19 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
20 broad forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000337
21 redundant skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0001582
22 hoarse voice 58 31 hallmark (90%) Very frequent (99-80%) HP:0001609
23 tall stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0000098
24 accelerated skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0005616
25 abnormally low-pitched voice 58 31 hallmark (90%) Very frequent (99-80%) HP:0010300
26 deep-set nails 58 31 hallmark (90%) Very frequent (99-80%) HP:0001814
27 thin nail 58 31 hallmark (90%) Very frequent (99-80%) HP:0001816
28 inguinal hernia 58 31 frequent (33%) Frequent (79-30%) HP:0000023
29 joint stiffness 58 31 frequent (33%) Frequent (79-30%) HP:0001387
30 broad thumb 58 31 frequent (33%) Frequent (79-30%) HP:0011304
31 feeding difficulties in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0008872
32 deep philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0002002
33 fine hair 58 31 frequent (33%) Frequent (79-30%) HP:0002213
34 round face 58 31 frequent (33%) Frequent (79-30%) HP:0000311
35 camptodactyly of finger 58 31 frequent (33%) Frequent (79-30%) HP:0100490
36 large hands 58 31 frequent (33%) Frequent (79-30%) HP:0001176
37 broad foot 58 31 frequent (33%) Frequent (79-30%) HP:0001769
38 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
39 intellectual disability, severe 58 31 occasional (7.5%) Occasional (29-5%) HP:0010864
40 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
41 talipes equinovarus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001762
42 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
43 sandal gap 58 31 occasional (7.5%) Occasional (29-5%) HP:0001852
44 joint hyperflexibility 58 31 occasional (7.5%) Occasional (29-5%) HP:0005692
45 hypoplasia of penis 58 31 occasional (7.5%) Occasional (29-5%) HP:0008736
46 pes cavus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001761
47 finger syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0006101
48 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680
49 hypertonia 58 31 Very frequent (99-80%) HP:0001276
50 dysarthria 31 HP:0001260

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Head:
macrocephaly
flattened occiput
large bifrontal diameter

Skeletal Spine:
scoliosis
kyphosis

Genitourinary External Genitalia Male:
inguinal hernia
hydrocele

Abdomen External Features:
umbilical hernia
diastasis recti
excessive appetite

Genitourinary Internal Genitalia Male:
cryptorchidism

Chest Breasts:
inverted nipples

Skeletal Hands:
large hands
camptodactyly
clinodactyly
prominent fingertip pads
broad thumbs
more
Skeletal Limbs:
limited elbow extension
limited knee extension
flared metaphyses (especially distal femora and humeri)

Head And Neck Ears:
large ears

Skin Nails Hair Nails:
thin, deep-set nails

Growth Height:
increased prenatal/postnatal length

Voice:
coarse, low-pitched voice

Neurologic Central Nervous System:
spasticity
hypertonia
slurred speech
absent septum pellucidum
hypotonia
more
Head And Neck Nose:
depressed nasal bridge

Head And Neck Eyes:
hypertelorism
strabismus
downslanting palpebral fissures
epicanthal folds

Skeletal Feet:
metatarsus adductus
talipes equinovarus
pes cavus
clinodactyly
calcaneovalgus
more
Head And Neck Face:
retrognathia
long philtrum
round face in infancy
prominent chin crease

Skeletal Pelvis:
coxa valga
small iliac wings

Chest Ribs Sternum Clavicles And Scapulae:
short ribs

Skeletal:
advanced bone age
dysharmonic bone age (carpals more advanced than phalanges)

Skin Nails Hair Hair:
thin hair

Skin Nails Hair Skin:
loose skin
increased pigmented nevi

Growth Weight:
increased prenatal/postnatal weight
weight more increased than height

Clinical features from OMIM®:

277590 (Updated 05-Mar-2021)

UMLS symptoms related to Weaver Syndrome:


muscle spasticity

MGI Mouse Phenotypes related to Weaver Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.47 CUL1 DNMT3A EHMT1 EZH1 EZH2 KCNJ6

Drugs & Therapeutics for Weaver Syndrome

Search Clinical Trials , NIH Clinical Center for Weaver Syndrome

Cochrane evidence based reviews: weaver-like syndrome

Genetic Tests for Weaver Syndrome

Genetic tests related to Weaver Syndrome:

# Genetic test Affiliating Genes
1 Weaver Syndrome 29 EZH2

Anatomical Context for Weaver Syndrome

MalaCards organs/tissues related to Weaver Syndrome:

40
Bone, Heart, Testis, Myeloid, Cortex, Retina

Publications for Weaver Syndrome

Articles related to Weaver Syndrome:

(show top 50) (show all 121)
# Title Authors PMID Year
1
Mutations in EZH2 cause Weaver syndrome. 57 61 6
22177091 2012
2
A new overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly. 6 57
4366187 1974
3
Acute lymphoblastic leukemia in Weaver syndrome. 57 61
20101679 2010
4
Cervical spine anomalies and tumors in Weaver syndrome. 57 61
11146472 2000
5
Pachygyria in Weaver syndrome. 61 57
10494098 1999
6
A probable case of familial Weaver syndrome associated with neoplasia. 57 61
10507738 1999
7
The syndromes of Sotos and Weaver: reports and review. 61 57
9781911 1998
8
Weaver syndrome: autosomal dominant inheritance of the disorder. 61 57
9781912 1998
9
Autosomal dominant inheritance of Weaver syndrome. 57 61
9152841 1997
10
Twins and their mildly affected mother with Weaver syndrome. 57 61
8131308 1993
11
Weaver syndrome. 61 57
1583661 1992
12
A new autosomal recessive disorder resembling Weaver syndrome. 61 57
2596508 1989
13
Weaver syndrome: the changing phenotype in an adult. 57 61
2750780 1989
14
Further delineation of Weaver syndrome. 57 61
2418189 1986
15
A Weaver-like syndrome with endocrinological abnormalities in a boy and his mother. 61 57
4064364 1985
16
Weaver's syndrome--primordial excessive growth velocity. A case report. 57 61
3983749 1985
17
Weaver syndrome: expanded natural history. 57 61
4080734 1985
18
Siblings with Weaver syndrome. 57 61
6834195 1983
19
The Weaver-Smith syndrome. 57 61
7441429 1980
20
Novel homo- and hemizygous mutations in EZH2 in myeloid malignancies. 57
20724984 2010
21
Growing interest in overgrowth. 57
9613346 1998
22
Update on the Marshall-Smith-Weaver controversy. 57
3993681 1985
23
Accelerated bone maturation syndrome of the Weaver type. 57
7318847 1981
24
Spectrum of NSD1 gene mutations in southern Chinese patients with Sotos syndrome. 61 54
16232326 2005
25
Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth. 61 54
15742365 2005
26
Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes. 54 61
14571271 2003
27
Spectrum of NSD1 mutations in Sotos and Weaver syndromes. 61 54
12807965 2003
28
NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes. 54 61
12464997 2003
29
Structural basis for PRC2 engagement with chromatin. 61
33232890 2020
30
DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes. 61
32243864 2020
31
Olfactory Malformations in Mendelian Disorders of the Epigenetic Machinery. 61
32850830 2020
32
Rare SUZ12 variants commonly cause an overgrowth phenotype. 61
31736240 2019
33
PRC2-complex related dysfunction in overgrowth syndromes: A review of EZH2, EED, and SUZ12 and their syndromic phenotypes. 61
31724824 2019
34
Three additional patients with EED-associated overgrowth: potential mutation hotspots identified? 61
30858506 2019
35
Histone H3 tail binds a unique sensing pocket in EZH2 to activate the PRC2 methyltransferase. 61
30967505 2019
36
EED and EZH2 constitutive variants: A study to expand the Cohen-Gibson syndrome phenotype and contrast it with Weaver syndrome. 61
30793471 2019
37
Screening genetic diseases prevalence in Braunvieh cattle. 61
30014197 2019
38
Novel SUZ12 mutations in Weaver-like syndrome. 61
30019515 2018
39
Correction: Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height. 61
30613354 2018
40
Further delineation of Malan syndrome. 61
29897170 2018
41
Co-occurrence of a maternally inherited DNMT3A duplication and a paternally inherited pathogenic variant in EZH2 in a child with growth retardation and severe short stature: atypical Weaver syndrome or evidence of a DNMT3A dosage effect? 61
29802153 2018
42
Loss of maternal EED results in postnatal overgrowth. 61
30005706 2018
43
Allosteric Activation Dictates PRC2 Activity Independent of Its Recruitment to Chromatin. 61
29681499 2018
44
Ezh2 Mutations Found in the Weaver Overgrowth Syndrome Cause a Partial Loss of H3K27 Histone Methyltransferase Activity. 61
29244146 2018
45
High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer. 61
29351919 2018
46
Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome. 61
29410511 2018
47
Clinically suspected anaphylaxis induced by sugammadex in a patient with Weaver syndrome undergoing restrictive mammoplasty surgery: A case report with the literature review. 61
29505006 2018
48
The phenotype of EZH2 haploinsufficiency-1.2-Mb deletion at 7q36.1 in a child with tall stature and intellectual disability. 61
28696078 2017
49
Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome. 61
28229514 2017
50
Novel EED mutation in patient with Weaver syndrome. 61
27868325 2017

Variations for Weaver Syndrome

ClinVar genetic disease variations for Weaver Syndrome:

6 (show top 50) (show all 117)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 EZH2 EZH2, 3-BP DEL, NT457 Deletion Pathogenic 30198
2 EZH2 NM_004456.4(EZH2):c.2080C>T (p.His694Tyr) SNV Pathogenic 30199 rs193921147 7:148506432-148506432 7:148809340-148809340
3 EZH2 NM_004456.4(EZH2):c.394C>T (p.Pro132Ser) SNV Pathogenic 30200 rs193921148 7:148526910-148526910 7:148829818-148829818
4 EZH2 NM_004456.4(EZH2):c.2044G>A (p.Ala682Thr) SNV Pathogenic 65674 rs397515547 7:148506468-148506468 7:148809376-148809376
5 EZH2 NM_004456.4(EZH2):c.2233G>A (p.Glu745Lys) SNV Pathogenic 65675 rs397515548 7:148504761-148504761 7:148807669-148807669
6 EZH2 NM_004456.4(EZH2):c.1876G>A (p.Val626Met) SNV Pathogenic 158579 rs587783625 7:148508788-148508788 7:148811696-148811696
7 EZH2 NM_004456.4(EZH2):c.2187dup (p.Asp730Ter) Duplication Pathogenic 210967 rs797045568 7:148506170-148506171 7:148809078-148809079
8 EZH2 NM_004456.4(EZH2):c.2050C>T (p.Arg684Cys) SNV Pathogenic 158582 rs587783626 7:148506462-148506462 7:148809370-148809370
9 EZH2 NM_004456.5(EZH2):c.398A>G (p.Tyr133Cys) SNV Pathogenic 933450 7:148526906-148526906 7:148829814-148829814
10 EZH2 NM_004456.5(EZH2):c.2235A>T (p.Glu745Asp) SNV Pathogenic 975993 7:148504759-148504759 7:148807667-148807667
11 EZH2 NM_004456.4(EZH2):c.458A>G (p.Tyr153Cys) SNV Pathogenic 208085 rs797044844 7:148526846-148526846 7:148829754-148829754
12 EZH2 NM_004456.5(EZH2):c.2048C>A (p.Thr683Asn) SNV Likely pathogenic 950845 7:148506464-148506464 7:148809372-148809372
13 EZH2 NM_004456.4(EZH2):c.2236A>G (p.Arg746Gly) SNV Likely pathogenic 158584 rs587783627 7:148504758-148504758 7:148807666-148807666
14 EZH2 NM_004456.4(EZH2):c.1990G>T (p.Asp664Tyr) SNV Likely pathogenic 411683 rs1060503430 7:148507464-148507464 7:148810372-148810372
15 EZH2 NM_004456.4(EZH2):c.2213C>A (p.Ala738Asp) SNV Likely pathogenic 430846 rs1131692184 7:148504781-148504781 7:148807689-148807689
16 EZH2 NM_004456.4(EZH2):c.2218_2220dup (p.Lys740dup) Duplication Likely pathogenic 577229 rs1563181659 7:148504773-148504774 7:148807681-148807682
17 EZH2 NM_004456.4(EZH2):c.2132A>T (p.His711Leu) SNV Likely pathogenic 640527 rs1584862929 7:148506226-148506226 7:148809134-148809134
18 EZH2 NM_004456.5(EZH2):c.2196-10_2197dup Duplication Likely pathogenic 643660 rs1584844589 7:148504796-148504797 7:148807704-148807705
19 EZH2 NM_004456.4(EZH2):c.2187T>G (p.Phe729Leu) SNV Likely pathogenic 648972 rs1584862620 7:148506171-148506171 7:148809079-148809079
20 EZH2 NM_004456.4(EZH2):c.2000T>C (p.Met667Thr) SNV Likely pathogenic 650242 rs1584875099 7:148507454-148507454 7:148810362-148810362
21 EZH2 NM_152998.3(EZH2):c.149T>C (p.Leu50Ser) SNV Conflicting interpretations of pathogenicity 208166 rs775407864 7:148543659-148543659 7:148846567-148846567
22 EZH2 NM_004456.4(EZH2):c.965A>G (p.Asn322Ser) SNV Conflicting interpretations of pathogenicity 134226 rs151023145 7:148516722-148516722 7:148819630-148819630
23 EZH2 NM_004456.5(EZH2):c.1210_1212del (p.Glu404del) Deletion Uncertain significance 953864 7:148514997-148514999 7:148817905-148817907
24 EZH2 NM_004456.5(EZH2):c.2195+4G>A SNV Uncertain significance 957260 7:148506159-148506159 7:148809067-148809067
25 EZH2 NM_004456.5(EZH2):c.1198_1203del (p.Lys400_Glu401del) Deletion Uncertain significance 965849 7:148515006-148515011 7:148817914-148817919
26 EZH2 NM_004456.5(EZH2):c.2040G>A (p.Val680=) SNV Uncertain significance 970066 7:148506472-148506472 7:148809380-148809380
27 EZH2 NM_004456.5(EZH2):c.775G>C (p.Glu259Gln) SNV Uncertain significance 975875 7:148523678-148523678 7:148826586-148826586
28 EZH2 NM_004456.5(EZH2):c.44G>T (p.Trp15Leu) SNV Uncertain significance 989285 7:148544347-148544347 7:148847255-148847255
29 EZH2 NC_000007.14:g.(?_148807626)_(148819707_?)dup Duplication Uncertain significance 830898 7:148504718-148516799
30 EZH2 NM_004456.5(EZH2):c.646C>T (p.Arg216Trp) SNV Uncertain significance 935335 7:148524338-148524338 7:148827246-148827246
31 EZH2 NM_004456.5(EZH2):c.1030A>G (p.Thr344Ala) SNV Uncertain significance 944116 7:148515179-148515179 7:148818087-148818087
32 EZH2 NM_004456.5(EZH2):c.574G>A (p.Asp192Asn) SNV Uncertain significance 946034 7:148525883-148525883 7:148828791-148828791
33 EZH2 NM_004456.5(EZH2):c.9G>C (p.Gln3His) SNV Uncertain significance 947390 7:148544382-148544382 7:148847290-148847290
34 EZH2 NM_004456.5(EZH2):c.1947G>A (p.Glu649=) SNV Uncertain significance 842275 7:148508717-148508717 7:148811625-148811625
35 EZH2 NM_004456.5(EZH2):c.232C>T (p.Arg78Cys) SNV Uncertain significance 846780 7:148543576-148543576 7:148846484-148846484
36 EZH2 NM_004456.5(EZH2):c.1330A>G (p.Met444Val) SNV Uncertain significance 861828 7:148514394-148514394 7:148817302-148817302
37 EZH2 NM_004456.4(EZH2):c.562G>A (p.Asp188Asn) SNV Uncertain significance 654557 rs1585021829 7:148525895-148525895 7:148828803-148828803
38 EZH2 NM_004456.4(EZH2):c.2196-2A>G SNV Uncertain significance 655635 rs1584844649 7:148504800-148504800 7:148807708-148807708
39 EZH2 NM_004456.4(EZH2):c.118A>G (p.Ser40Gly) SNV Uncertain significance 661065 rs754403133 7:148543690-148543690 7:148846598-148846598
40 EZH2 NM_004456.4(EZH2):c.1682G>T (p.Arg561Leu) SNV Uncertain significance 663016 rs1164610428 7:148511220-148511220 7:148814128-148814128
41 EZH2 NM_004456.4(EZH2):c.1884C>G (p.Gly628=) SNV Uncertain significance 158580 rs61732846 7:148508780-148508780 7:148811688-148811688
42 NSD1 NM_022455.4(NSD1):c.*4609_*4611del Deletion Uncertain significance 352946 rs60995782 5:176727059-176727061 5:177300058-177300060
43 EZH2 NM_004456.4(EZH2):c.1555T>C (p.Ser519Pro) SNV Uncertain significance 359279 rs747009766 7:148512123-148512123 7:148815031-148815031
44 NSD1 NM_022455.4(NSD1):c.*4610_*4611dup Duplication Uncertain significance 352944 rs60995782 5:176727058-176727059 5:177300057-177300058
45 NSD1 NM_172349.2(NSD1):c.*216_*219CCAA[1] Microsatellite Uncertain significance 352895 rs886060444 5:176722676-176722679 5:177295675-177295678
46 NSD1 NM_022455.4(NSD1):c.1063+10dup Duplication Uncertain significance 352873 rs762416925 5:176619029-176619030 5:177192028-177192029
47 NSD1 NM_022455.4(NSD1):c.*4612del Deletion Uncertain significance 352949 rs886060465 5:176727072-176727072 5:177300071-177300071
48 NSD1 NM_022455.4(NSD1):c.*565del Deletion Uncertain significance 352898 rs886060446 5:176723025-176723025 5:177296024-177296024
49 NSD1 NM_022455.4(NSD1):c.*4596del Deletion Uncertain significance 352941 rs886060459 5:176727056-176727056 5:177300055-177300055
50 NSD1 NM_022455.4(NSD1):c.4605C>T (p.Arg1535=) SNV Uncertain significance 159339 rs140229717 5:176675289-176675289 5:177248288-177248288

UniProtKB/Swiss-Prot genetic disease variations for Weaver Syndrome:

73 (show all 11)
# Symbol AA change Variation ID SNP ID
1 EZH2 p.Pro132Ser VAR_067595 rs193921148
2 EZH2 p.His689Tyr VAR_067597 rs193921147
3 EZH2 p.Tyr133Cys VAR_078320
4 EZH2 p.Met134Thr VAR_078321
5 EZH2 p.Lys156Glu VAR_078322
6 EZH2 p.His279Arg VAR_078323
7 EZH2 p.Tyr658Asn VAR_078326
8 EZH2 p.Ala677Thr VAR_078328 rs397515547
9 EZH2 p.Arg679Cys VAR_078329 rs587783626
10 EZH2 p.Ser690Leu VAR_078331
11 EZH2 p.Tyr736Cys VAR_078334

Expression for Weaver Syndrome

Search GEO for disease gene expression data for Weaver Syndrome.

Pathways for Weaver Syndrome

Pathways related to Weaver Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Lysine degradation hsa00310

GO Terms for Weaver Syndrome

Cellular components related to Weaver Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.13 ZNF496 SUZ12 SETD2 NSD3 NSD1 KMT2D
2 nucleoplasm GO:0005654 9.97 SUZ12 SETD2 PWWP2B NSD3 NSD1 KMT2D
3 chromosome GO:0005694 9.56 SETD2 NSD3 NSD1 H3-2 H2AC18 H1-4
4 nucleosome GO:0000786 9.5 H3-2 H2AC18 H1-4
5 ESC/E(Z) complex GO:0035098 8.92 SUZ12 EZH2 EZH1 EED

Biological processes related to Weaver Syndrome according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 10.01 NSD1 EZH2 EZH1 EHMT1 EED DNMT3A
2 negative regulation of gene expression, epigenetic GO:0045814 9.73 SUZ12 EZH2 EED DNMT3A
3 chromatin silencing GO:0006342 9.67 KMT2D H2AC18 EED
4 negative regulation of G0 to G1 transition GO:0070317 9.67 SUZ12 EZH2 EHMT1 EED
5 histone lysine methylation GO:0034968 9.65 SETD2 NSD3 NSD1 EZH2 EHMT1
6 DNA methylation GO:0006306 9.63 EZH2 EHMT1 DNMT3A
7 histone H3-K27 methylation GO:0070734 9.62 EZH2 EZH1 EHMT1 EED
8 histone H3-K36 methylation GO:0010452 9.58 SETD2 NSD3 NSD1
9 methylation GO:0032259 9.56 SETD2 NSD3 NSD1 KMT2D EZH2 EZH1
10 histone methylation GO:0016571 9.55 NSD3 NSD1 EZH2 EHMT1 EED
11 peptidyl-lysine monomethylation GO:0018026 9.52 SETD2 EHMT1
12 chromatin silencing at telomere GO:0006348 9.51 EZH2 EZH1
13 histone H3-K27 trimethylation GO:0098532 9.48 SUZ12 EZH2
14 chromatin organization GO:0006325 9.36 SUZ12 SETD2 NSD3 NSD1 KMT2D KDM4C

Molecular functions related to Weaver Syndrome according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.11 ZNF496 KMT2D H3-2 H2AC18 H1-4 EZH2
2 transferase activity GO:0016740 10.1 SETD2 NSD3 NSD1 KMT2D EZH2 EZH1
3 chromatin binding GO:0003682 9.88 NSD1 KDM4C EZH2 EZH1 EED DNMT3A
4 transcription corepressor activity GO:0003714 9.76 NSD1 EZH2 EZH1 DNMT3A
5 chromatin DNA binding GO:0031490 9.65 SUZ12 H1-4 EZH2
6 protein-lysine N-methyltransferase activity GO:0016279 9.61 SETD2 EZH2 EHMT1
7 RNA polymerase II transcription corepressor binding GO:0001226 9.56 SUZ12 EZH2 EHMT1 EED
8 methyltransferase activity GO:0008168 9.56 SETD2 NSD3 NSD1 KMT2D EZH2 EZH1
9 histone methyltransferase activity (H3-K36 specific) GO:0046975 9.54 SETD2 NSD3 NSD1
10 histone methyltransferase activity GO:0042054 9.5 SUZ12 EZH2 EED
11 histone methyltransferase activity (H3-K27 specific) GO:0046976 9.46 SUZ12 EZH2 EHMT1 EED
12 histone-lysine N-methyltransferase activity GO:0018024 9.1 SETD2 NSD3 NSD1 EZH2 EZH1 EHMT1

Sources for Weaver Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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