WVS
MCID: WVR001
MIFTS: 56

Weaver Syndrome (WVS) malady

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

Aliases & Classifications for Weaver Syndrome

Aliases & Descriptions for Weaver Syndrome:

Name: Weaver Syndrome 54 12 50 25 66 29 13 52 14 69
Wss 50 25 66
Weaver-Williams Syndrome 12 56
Weaver-Smith Syndrome 25 66
Weaver-Like Syndrome 12 42
Mental Retardation, Microcephaly, Weight Deficiency, Unusual Facies, Clinodactyly, Bone Hypoplasia, and Cleft Palate 50
Overgrowth Syndrome with Accelerated Skeletal Maturation, Unusual Facies, and Camptodactyly 50
Camptodactyly-Overgrowth-Unusual Facies Syndrome 50
Camptodactyly - Overgrowth - Unusual Facies 50
Camptodactyly-Overgrowth-Unusual Facies 25
Weaver Williams Syndrome 50
Ezh2 Related Overgrowth 50
Weaver Smith Syndrome 50
Weaver Like Syndrome 50
Weaver Syndrome 1 66
Weaver Syndrome 2 66
Wvs1 66
Wvs2 66
Wvs 66

Characteristics:

Orphanet epidemiological data:

56
weaver-williams syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

32
weaver syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 277590
Disease Ontology 12 DOID:14731
Orphanet 56 ORPHA3448
ICD10 via Orphanet 34 Q87.8
UMLS 69 C0220765

Summaries for Weaver Syndrome

OMIM : 54 Weaver syndrome comprises pre- and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial... (277590) more...

MalaCards based summary : Weaver Syndrome, also known as wss, is related to weaver syndrome 1 and ezh2-related weaver syndrome, and has symptoms including microcephaly, intellectual disability, severe and cleft palate. 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 Chromatin organization and PKMTs methylate histone lysines. The drugs Ethanol and Lorazepam have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and eye.

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).

NIH Rare Diseases : 50 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. last updated: 3/16/2016

UniProtKB/Swiss-Prot : 66 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 : 71 Weaver syndrome (also called Weaver-Smith syndrome) is an extremely rare congenital disorder associated... more...

Related Diseases for Weaver Syndrome

Diseases in the Weaver Syndrome family:

Weaver Syndrome 1 Ezh2-Related Weaver Syndrome

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

(show all 25)
id Related Disease Score Top Affiliating Genes
1 weaver syndrome 1 11.8
2 ezh2-related weaver syndrome 11.8
3 woodhouse-sakati syndrome 11.3
4 wrinkly skin syndrome 10.9
5 sotos syndrome 1 10.8
6 wiedemann-steiner syndrome 10.8
7 bile reflux 9.9
8 cervicitis 9.9
9 neuroblastoma 9.9
10 leukemia 9.9
11 gastric ulcer 9.7
12 gastroparesis 9.7
13 hypothyroidism 9.7
14 duodenogastric reflux 9.7
15 neonatal hypothyroidism 9.7
16 diamond-blackfan anemia 9.7
17 cranioectodermal dysplasia 1 9.7 EZH2 NSD1 NUP98
18 myeloid leukemia 9.7
19 neurofibromatosis 9.7
20 pachygyria 9.7
21 neurofibromatosis, type 1 9.7
22 macroglossia 9.7
23 hemophagocytic lymphohistiocytosis 9.7
24 lymphoblastic leukemia 9.7
25 trypsinogen deficiency 8.9 CTTNBP2 EED EZH2 NSD1 NUP98 PNPLA8

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



Diseases related to Weaver Syndrome

Symptoms & Phenotypes for Weaver Syndrome

Symptoms by clinical synopsis from OMIM:

277590

Clinical features from OMIM:

277590

Human phenotypes related to Weaver Syndrome:

56 32 (show top 50) (show all 86)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 56 32 Obligate (100%) HP:0000252
2 intellectual disability, severe 56 32 Occasional (29-5%) HP:0010864
3 cleft palate 56 32 Obligate (100%) HP:0000175
4 protruding ear 56 32 Obligate (100%) HP:0000411
5 intellectual disability, moderate 56 32 Obligate (100%) HP:0002342
6 narrow mouth 56 32 Obligate (100%) HP:0000160
7 decreased body weight 56 32 Obligate (100%) HP:0004325
8 seizures 32 HP:0001250
9 joint stiffness 32 HP:0001387
10 thin nail 32 HP:0001816
11 macrocephaly 32 HP:0000256
12 hypertelorism 32 HP:0000316
13 finger syndactyly 32 HP:0006101
14 clinodactyly 32 HP:0030084
15 intellectual disability 32 HP:0001249
16 muscular hypotonia 32 HP:0001252
17 spasticity 32 HP:0001257
18 dysarthria 32 HP:0001260
19 scoliosis 32 HP:0002650
20 kyphosis 32 HP:0002808
21 inguinal hernia 32 HP:0000023
22 mandibular prognathia 32 HP:0000303
23 macrotia 32 HP:0000400
24 behavioral abnormality 32 HP:0000708
25 global developmental delay 32 HP:0001263
26 depressed nasal bridge 32 HP:0005280
27 delayed speech and language development 32 HP:0000750
28 umbilical hernia 32 HP:0001537
29 broad thumb 32 HP:0011304
30 hypertonia 32 HP:0001276
31 feeding difficulties in infancy 32 HP:0008872
32 long philtrum 32 HP:0000343
33 micrognathia 32 HP:0000347
34 abnormality of the metaphyses 32 HP:0000944
35 retrognathia 32 HP:0000278
36 strabismus 32 HP:0000486
37 coxa valga 32 HP:0002673
38 joint hyperflexibility 32 HP:0005692
39 epicanthus 32 HP:0000286
40 slurred speech 32 HP:0001350
41 cryptorchidism 32 HP:0000028
42 metatarsus adductus 32 HP:0001840
43 abnormality of the fingernails 32 HP:0001231
44 hypoplastic toenails 32 HP:0001800
45 inverted nipples 32 HP:0003186
46 pes cavus 32 HP:0001761
47 broad forehead 32 HP:0000337
48 hypoplastic iliac wing 32 HP:0002866
49 low-set, posteriorly rotated ears 32 HP:0000368
50 downslanted palpebral fissures 32 HP:0000494

UMLS symptoms related to Weaver Syndrome:


muscle spasticity

Drugs & Therapeutics for Weaver Syndrome

Drugs for Weaver Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 147)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Phase 4 64-17-5 702
2
Lorazepam Approved Phase 4 846-49-1 3958
3
Menthol Approved Phase 4 2216-51-5 16666
4
Chlorhexidine Approved, Vet_approved Phase 4 55-56-1 9552079 2713
5
Povidone-iodine Approved Phase 4 25655-41-8
6
Azithromycin Approved Phase 4 83905-01-5 55185 53477736 447043
7
Tobramycin Approved, Investigational Phase 4 32986-56-4 5496 36294
8
Carbon monoxide Approved Phase 4,Phase 1 630-08-0 281
9
Acamprosate Approved, Investigational Phase 4 77337-76-9 71158
10 Anti-Anxiety Agents Phase 4
11 Anticonvulsants Phase 4
12 Antiemetics Phase 4
13 Anti-Infective Agents Phase 4
14 Anti-Infective Agents, Local Phase 4
15 Autonomic Agents Phase 4,Phase 1
16 Central Nervous System Depressants Phase 4
17 GABA Agents Phase 4
18 GABA Modulators Phase 4
19 Gastrointestinal Agents Phase 4
20 Hypnotics and Sedatives Phase 4
21 Neurotransmitter Agents Phase 4,Phase 1
22 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 1
23 Psychotropic Drugs Phase 4
24 Tranquilizing Agents Phase 4
25 Antidepressive Agents Phase 4
26 Antidepressive Agents, Second-Generation Phase 4
27 Vaccines Phase 4,Phase 2
28 Anti-Bacterial Agents Phase 4,Phase 1
29 Antibiotics, Antitubercular Phase 4,Phase 1
30 Blood Substitutes Phase 4
31 cadexomer iodine Phase 4
32 Chlorhexidine gluconate Phase 4
33 Dermatologic Agents Phase 4
34 Disinfectants Phase 4
35
Iodine Phase 4 7553-56-2 807
36 Plasma Substitutes Phase 4
37 Povidone Phase 4
38 Antimetabolites Phase 4,Phase 1
39 Tryptophan Nutraceutical Phase 4
40
Levodopa Approved Phase 3 59-92-7 6047
41
Temozolomide Approved, Investigational Phase 3 85622-93-1 5394
42
Dalteparin Approved Phase 3 9041-08-1
43
Heparin Approved, Investigational Phase 3 9005-49-6 772 46507594
44
Tinzaparin Approved Phase 3 9005-49-6, 9041-08-1 25244225
45
Treprostinil Approved, Investigational Phase 2, Phase 3 81846-19-7 54786 6918140
46
Cisplatin Approved Phase 3 15663-27-1 84093 441203 2767
47 Dihydroxyphenylalanine Phase 3
48 Coagulants Phase 3
49 Gelatin Sponge, Absorbable Phase 3
50 Hemostatics Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 88)
id Name Status NCT ID Phase
1 Treatment of Alcohol Withdrawal in Hospital Patients Completed NCT00249366 Phase 4
2 Double Blind Study of Trp01 in Patients With Alzheimer's Disease Completed NCT00202124 Phase 4
3 Safety and Immunogenicity of Simultaneous Tdap and IIV in Pregnant Women Recruiting NCT02783170 Phase 4
4 Project PROTECT: Protecting Nursing Homes From Infections and Hospitalization Recruiting NCT03118232 Phase 4
5 Testing the Effect of Adding Chronic Oral Azithromycin to Inhaled Tobramycin in People With CF Recruiting NCT02677701 Phase 4
6 One vs. Three Hyperbaric Oxygen Treatments for Acute Carbon Monoxide Poisoning Active, not recruiting NCT00465855 Phase 4
7 Study of Acamprosate to Prevent Alcohol Relapse in Criminal Justice Supervisees Terminated NCT00249379 Phase 4
8 Improving Patient-centered Care Using an Inventory Completed NCT01843803 Phase 2, Phase 3
9 Phase I Deep Brain Stimulation (DBS) vs. Best Medical Therapy (BMT) Trial Completed NCT00056563 Phase 3
10 Study of Recombinant Human Thrombin for Bleeding During Surgery Completed NCT00245336 Phase 3
11 Integrating Sleep, Nightmare and PTSD Treatments Recruiting NCT02236390 Phase 3
12 Phase 3 Randomized, Double-blind, Controlled Study of ICT-107 in Glioblastoma Recruiting NCT02546102 Phase 3
13 Extended Peri-operative Tinzaparin to Improve Disease-free Survival in Patients With Resectable Colorectal Cancer Recruiting NCT01455831 Phase 3
14 Safety and Efficacy of Inhaled Treprostinil in Adult PH With ILD Including CPFE Recruiting NCT02630316 Phase 2, Phase 3
15 Study of Post-Op Adjuvant Concurrent Chemo-RT With or Without Nimotuzumab for Head & Neck Cancer Recruiting NCT00957086 Phase 3
16 Rheos HOPE4HF (Health Outcomes Prospective Evaluation for Heart Failure With Ejection Fraction (EF) ≥ 40%) Trial Active, not recruiting NCT00957073 Phase 2, Phase 3
17 Veliflapon (DG-031)to Prevent Heart Attacks or Stroke in Patients With a History of Heart Attack or Unstable Angina Suspended NCT00353067 Phase 3
18 Safety and Efficacy Study of TNX-650 to Treat Refractory Hodgkin's Lymphoma Unknown status NCT00441818 Phase 1, Phase 2
19 Randomized Clinical Trial of Nasal Turbinate Reduction to Improve Continuous Positive Airway Pressure (CPAP) Outcomes for Sleep Apnea Completed NCT00503802 Phase 2
20 Fructooligosaccharide and Calcium Absorption in Adolescent Girls Completed NCT01005927 Phase 1, Phase 2
21 Functional and Anatomical Magnetic Resonance Imaging (MRI) of Chronic Brain Injury and Hyperbaric Oxygen (HBO2) Study Subjects Completed NCT01126515 Phase 2
22 Hyperbaric Oxygen Therapy in Chronic Stable Brain Injury Completed NCT00830453 Phase 2
23 Girls In Recovery From Life Stress (GIRLS) Study Completed NCT00751946 Phase 2
24 A Pilot Study of GWP42003 in the Symptomatic Treatment of Ulcerative Colitis (GWID10160) Completed NCT01562314 Phase 2
25 Safety and Efficacy Study of TVGV-1 Vaccine to Treat HPV Induced Cervical HSIL Recruiting NCT02576561 Phase 2
26 Study to Evaluate the Safety and Tolerability of GBT440 Administered to Subjects With IPF Recruiting NCT02846324 Phase 2
27 A Phase 2 IV Gallium Study for Patients With Cystic Fibrosis (IGNITE Study) Recruiting NCT02354859 Phase 2
28 A Study to Evaluate the Safety, Tolerability, and Activity of KD025 in Subjects With Idiopathic Pulmonary Fibrosis Recruiting NCT02688647 Phase 2
29 A Pilot Study of Genetically Engineered NY-ESO-1 Specific NY-ESO-1ᶜ²⁵⁹T in HLA-A2+ Patients With Synovial Sarcoma Recruiting NCT01343043 Phase 1, Phase 2
30 Hyperbaric Oxygen for Civilian Post-concussive Syndrome Not yet recruiting NCT01986205 Phase 2
31 Safety Study of IHL-305 (Irinotecan Liposome Injection) to Treat Advanced Solid Tumors Unknown status NCT00364143 Phase 1
32 Enhanced Quitline Intervention in Smoking Cessation for Patients With Non-Metastatic Lung Cancer Completed NCT01457469 Phase 1
33 Isoflavones for Promoting Calcium Absorption and Preventing Bone Loss in Post Menopausal Women Completed NCT00244907 Phase 1
34 Hyperbaric Oxygen, Neutrophil-oxidative Burst, and Cytokines Recruiting NCT02563678 Phase 1
35 The Effect of Dairy on Bone Mass and Body Composition in 4th-8th Grade Boys and Girls Unknown status NCT00635583
36 Radiostereometric Analysis of Fracture Healing in Distal Femur Fractures Unknown status NCT01593176
37 Bioavailability of Potassium From Potatoes and Potassium Gluconate Unknown status NCT01881295
38 Dose Effects of SCF on Calcium Metabolism and GI Microflora in Adolescents Unknown status NCT01660503
39 Training Executive Functions to Facilitate Recovery Following Traumatic Brain Injury Completed NCT01993407
40 Galactooligosaccharide (GOS) Supplementation and Calcium Absorption in Girls Completed NCT01263847 Early Phase 1
41 Effect of Calcium Supplement Particle Size and Vitamin D Supplement on Calcium Retention in Adolescent Girls Completed NCT01005381
42 Integrated Infectious Disease Capacity-Building Evaluation Completed NCT01190540
43 Calcium, Dairy, and Body Fat in Adolescents Completed NCT00592137
44 Calcium Metabolism in Asian Adolescents Completed NCT00591708
45 Continuous Positive Airway Pressure to Improve Milder Obstructive Sleep Apnea Completed NCT00089752
46 The Good Patient Study Completed NCT02199548
47 Prospective, Non-Randomized Evaluation of Carbon Dioxide Gas as a Contrast Agent in Comparison With Iodinated Contrast in Endovascular Aneurysm Repair Completed NCT00520416
48 Feasibility of Delivering a Quitline Based Smoking Cessation Intervention in Cancer Patients Completed NCT01434342
49 Soluble Corn Fiber Effect on Bone Resorption in Post Menopausal Women Completed NCT02416947
50 Test of Chamber Pressure to Divers and Chamber Attendants Completed NCT01430325

Search NIH Clinical Center for Weaver Syndrome

Cochrane evidence based reviews: weaver-like syndrome

Genetic Tests for Weaver Syndrome

Genetic tests related to Weaver Syndrome:

id Genetic test Affiliating Genes
1 Weaver Syndrome 29

Anatomical Context for Weaver Syndrome

MalaCards organs/tissues related to Weaver Syndrome:

39
Bone, Skin, Eye, Testis, Myeloid, Cortex

Publications for Weaver Syndrome

Articles related to Weaver Syndrome:

(show top 50) (show all 54)
id Title Authors Year
1
Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome. ( 28229514 )
2017
2
Novel EED mutation in patient with Weaver syndrome. ( 27868325 )
2017
3
Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro. ( 26694085 )
2016
4
Anesthetic management of a patient with Weaver syndrome undergoing emergency evacuation of extra-dural hematoma: A case report and review of the literature. ( 26955318 )
2016
5
Confirmation of a non-synonymous SNP in PNPLA8 as a candidate causal mutation for Weaver syndrome in Brown Swiss cattle. ( 26992691 )
2016
6
EZH2 mutation in an adolescent with Weaver syndrome developing acute myeloid leukemia and secondary hemophagocytic lymphohistiocytosis. ( 26762561 )
2016
7
Oral, radiographical, and clinical findings in Weaver syndrome: a case report. ( 26084782 )
2015
8
Weaver syndrome and defective cortical development: a rare association. ( 23239504 )
2013
9
Fine mapping for Weaver syndrome in Brown Swiss cattle and the identification of 41 concordant mutations across NRCAM, PNPLA8 and CTTNBP2. ( 23527149 )
2013
10
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype. ( 24214728 )
2013
11
Mutations in EZH2 cause Weaver syndrome. ( 22177091 )
2012
12
A patient with the Weaver syndrome in Puerto Rico: a case report. ( 22788078 )
2012
13
Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height. ( 22190405 )
2011
14
Weaver syndrome associated with bilateral congenital hip and unilateral subtalar dislocation. ( 20981173 )
2010
15
Acute lymphoblastic leukemia in Weaver syndrome. ( 20101679 )
2010
16
Weaver syndrome: A report of a rare genetic syndrome. ( 20407649 )
2009
17
Treatment of macroglossia in a child with Weaver syndrome. ( 18595662 )
2008
18
Weaver syndrome and neuroblastoma. ( 19011474 )
2008
19
The upper airway in Weaver syndrome. ( 16176320 )
2005
20
Hormonal and genetical assessment of a Japanese girl with weaver syndrome. ( 24790293 )
2004
21
NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes. ( 12464997 )
2003
22
Spectrum of NSD1 mutations in Sotos and Weaver syndromes. ( 12807965 )
2003
23
The difficulty of height prediction in Weaver syndrome. ( 11826875 )
2002
24
Weaver syndrome with neuroblastoma and cardiovascular anomalies. ( 11241499 )
2001
25
Excessive growth in a girl with Weaver syndrome. ( 11085195 )
2000
26
Cervical spine anomalies and tumors in Weaver syndrome. ( 11146472 )
2000
27
A case with Weaver syndrome operated for congenital cardiac defect. ( 10441697 )
1999
28
Pachygyria in Weaver syndrome. ( 10494098 )
1999
29
A probable case of familial Weaver syndrome associated with neoplasia. ( 10507738 )
1999
30
Weaver syndrome: autosomal dominant inheritance of the disorder. ( 9781912 )
1998
31
Familial neurofibromatosis type 1 associated with an overgrowth syndrome resembling Weaver syndrome. ( 9598729 )
1998
32
Autosomal dominant inheritance of Weaver syndrome. ( 9152841 )
1997
33
Propositus with Weaver syndrome and his mildly-affected mother: implication of nontraditional inheritance? ( 9240753 )
1996
34
Twins and their mildly affected mother with Weaver syndrome. ( 8131308 )
1993
35
Weaver syndrome. ( 1583661 )
1992
36
Weaver syndrome: a case without early overgrowth and review of the literature. ( 1956726 )
1991
37
Weaver syndrome in two Japanese children. ( 1785638 )
1991
38
Weaver syndrome and instability of the upper cervical spine. ( 2319408 )
1990
39
Ultrastructural changes in Brown Swiss cattle affected with bovine progressive degenerative myeloencephalopathy (Weaver syndrome). ( 2127493 )
1990
40
A Japanese male infant with the Weaver syndrome. ( 2266602 )
1990
41
Weaver syndrome: the changing phenotype in an adult. ( 2750780 )
1989
42
A case of Marshall-Smith or Weaver syndrome. ( 2593121 )
1989
43
A new autosomal recessive disorder resembling Weaver syndrome. ( 2596508 )
1989
44
Retarded skeletal maturation in Weaver syndrome. ( 3207030 )
1988
45
Bovine progressive degenerative myeloencephalopathy (weaver syndrome) in brown swiss cattle in Canada: a literature review and case report. ( 17423028 )
1988
46
A girl with the Weaver syndrome. ( 3585940 )
1987
47
Further delineation of Weaver syndrome. ( 2418189 )
1986
48
Ultrastructural alterations of motor cortex synaptic junctions in Brown Swiss cattle with weaver syndrome. ( 4037501 )
1985
49
Weaver syndrome with pes cavus. ( 4025398 )
1985
50
Weaver syndrome: expanded natural history. ( 4080734 )
1985

Variations for Weaver Syndrome

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

66 (show all 11)
id 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
9 EZH2 p.Arg679Cys VAR_078329
10 EZH2 p.Ser690Leu VAR_078331
11 EZH2 p.Tyr736Cys VAR_078334

ClinVar genetic disease variations for Weaver Syndrome:

6 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1 EZH2 EZH2, 3-BP DEL, NT457 deletion Pathogenic
2 EZH2 NM_004456.4(EZH2): c.2080C> T (p.His694Tyr) single nucleotide variant Pathogenic rs193921147 GRCh37 Chromosome 7, 148506432: 148506432
3 EZH2 NM_004456.4(EZH2): c.394C> T (p.Pro132Ser) single nucleotide variant Pathogenic rs193921148 GRCh37 Chromosome 7, 148526910: 148526910
4 EZH2 NM_004456.4(EZH2): c.2044G> A (p.Ala682Thr) single nucleotide variant Pathogenic rs397515547 GRCh37 Chromosome 7, 148506468: 148506468
5 EZH2 NM_004456.4(EZH2): c.2233G> A (p.Glu745Lys) single nucleotide variant Pathogenic rs397515548 GRCh37 Chromosome 7, 148504761: 148504761
6 EZH2 NM_004456.4(EZH2): c.2236A> G (p.Arg746Gly) single nucleotide variant Likely pathogenic rs587783627 GRCh37 Chromosome 7, 148504758: 148504758
7 EZH2 NM_004456.4(EZH2): c.2050C> T (p.Arg684Cys) single nucleotide variant Pathogenic rs587783626 GRCh37 Chromosome 7, 148506462: 148506462
8 EZH2 NM_004456.4(EZH2): c.1876G> A (p.Val626Met) single nucleotide variant Pathogenic rs587783625 GRCh37 Chromosome 7, 148508788: 148508788
9 EZH2 NM_004456.4(EZH2): c.458A> G (p.Tyr153Cys) single nucleotide variant Pathogenic rs797044844 GRCh37 Chromosome 7, 148526846: 148526846
10 EZH2 NM_152998.2(EZH2): c.149T> C (p.Leu50Ser) single nucleotide variant Pathogenic rs775407864 GRCh37 Chromosome 7, 148543659: 148543659
11 EZH2 NM_004456.4(EZH2): c.2187dupT (p.Asp730Terfs) duplication Pathogenic rs797045568 GRCh37 Chromosome 7, 148506171: 148506171

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 GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.28 EED EZH2 NSD1
2
Show member pathways
10.95 EED EZH2 NSD1
3 10.93 EZH2 NSD1
4 10.19 EED EZH2

GO Terms for Weaver Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 ESC/E(Z) complex GO:0035098 8.96 EED EZH2
2 pronucleus GO:0045120 8.62 EED EZH2

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

id Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription from RNA polymerase II promoter GO:0000122 9.54 EED EZH2 NSD1
2 covalent chromatin modification GO:0016569 9.43 EED EZH2 NSD1
3 negative regulation of gene expression, epigenetic GO:0045814 9.32 EED EZH2
4 histone lysine methylation GO:0034968 9.16 EZH2 NSD1
5 histone H3-K27 methylation GO:0070734 8.96 EED EZH2
6 histone methylation GO:0016571 8.8 EED EZH2 NSD1

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

id Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.5 EED EZH2 NSD1
2 RNA polymerase II core promoter sequence-specific DNA binding GO:0000979 9.26 EZH2 NSD1
3 histone-lysine N-methyltransferase activity GO:0018024 9.16 EZH2 NSD1
4 histone methyltransferase activity GO:0042054 8.96 EED EZH2
5 histone methyltransferase activity (H3-K27 specific) GO:0046976 8.62 EED EZH2

Sources for Weaver Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....