MCID: WVR001
MIFTS: 61

Weaver Syndrome

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

Aliases & Classifications for Weaver Syndrome

MalaCards integrated aliases for Weaver Syndrome:

Name: Weaver Syndrome 53 12 72 49 24 71 36 28 13 51 14 69
Wss 53 49 24 71
Weaver-Smith Syndrome 53 24 71
Weaver-Williams Syndrome 12 55
Weaver-Like Syndrome 12 41
Wvs 53 71
Mental Retardation, Microcephaly, Weight Deficiency, Unusual Facies, Clinodactyly, Bone Hypoplasia, and Cleft Palate 49
Overgrowth Syndrome with Accelerated Skeletal Maturation, Unusual Facies, and Camptodactyly 49
Camptodactyly-Overgrowth-Unusual Facies Syndrome 49
Camptodactyly - Overgrowth - Unusual Facies 49
Camptodactyly-Overgrowth-Unusual Facies 24
Weaver-Smith Syndrome; Wss 53
Weaver Williams Syndrome 49
Ezh2 Related Overgrowth 49
Weaver Smith Syndrome 49
Weaver Like Syndrome 49
Weaver Syndrome 1 71
Weaver Syndrome 2 71
Wvs1 71
Wvs2 71

Characteristics:

Orphanet epidemiological data:

55
weaver-williams syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal dominant

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


HPO:

31
weaver syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Weaver Syndrome

OMIM : 53 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). The 'Weaver-like' syndrome reported by Stoll et al. (1985) in a mother and son may be a separate entity. Sotos syndrome (117550), which shows considerable phenotypic overlap with Weaver syndrome, is caused by mutation in the NSD1 gene (601573) on chromosome 5q35. (277590)

MalaCards based summary : Weaver Syndrome, also known as wss, is related to woodhouse-sakati syndrome and sotos syndrome 1, 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 Lysine degradation and Chromatin organization. The drugs Carbon monoxide and Ethanol have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and brain, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

UniProtKB/Swiss-Prot : 71 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.

NIH Rare Diseases : 49 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

Genetics Home Reference : 24 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).

Wikipedia : 72 Weaver syndrome (also called Weaver-Smith syndrome) is an extremely rare congenital disorder associated... more...

Related Diseases for Weaver Syndrome

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

(show all 27)
# Related Disease Score Top Affiliating Genes
1 woodhouse-sakati syndrome 11.4
2 sotos syndrome 1 11.3
3 wrinkly skin syndrome 11.1
4 wiedemann-steiner syndrome 10.9
5 acrocephalopolysyndactyly type iii 10.0
6 intracranial aneurysm 10.0
7 sakati syndrome 10.0
8 aneurysm 10.0
9 bile reflux 10.0
10 neuroblastoma 9.9
11 leukemia 9.9
12 cervicitis 9.9
13 aortic coarctation 9.9
14 diamond-blackfan anemia 9.8
15 gastric ulcer 9.8
16 gastroparesis 9.8
17 hypothyroidism 9.8
18 duodenogastric reflux 9.8
19 neonatal hypothyroidism 9.8
20 macroglossia 9.8
21 neurofibromatosis, type iv, of riccardi 9.8
22 leukemia, acute myeloid 9.8
23 hemophagocytic lymphohistiocytosis 9.8
24 lymphoblastic leukemia 9.8
25 myeloid leukemia 9.8
26 pachygyria 9.8
27 extraosseous ewing's sarcoma 9.7 EZH2 SUZ12

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



Diseases related to Weaver Syndrome

Symptoms & Phenotypes for Weaver Syndrome

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Head:
macrocephaly
flattened occiput
large bifrontal diameter

Skeletal Hands:
clinodactyly
large hands
camptodactyly
prominent fingertip pads
broad thumbs
more
Neurologic Central Nervous System:
spasticity
hypertonia
slurred speech
absent septum pellucidum
developmental delay
more
Genitourinary External Genitalia Male:
inguinal hernia
hydrocele

Abdomen External Features:
umbilical hernia
diastasis recti
excessive appetite

Skeletal Pelvis:
coxa valga
small iliac wings

Chest Breasts:
inverted nipples

Chest RibsSternum Clavicles And Scapulae:
short ribs

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

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

Skeletal Feet:
clinodactyly
metatarsus adductus
pes cavus
talipes equinovarus
calcaneovalgus
more
Skeletal Spine:
scoliosis
kyphosis

Head And Neck Nose:
depressed nasal bridge

Head And Neck Face:
long philtrum
retrognathia
round face in infancy
prominent chin crease

Genitourinary Internal Genitalia Male:
cryptorchidism

Skeletal Limbs:
limited elbow extension
limited knee extension
flared metaphyses (especially distal femora and humeri)

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

Human phenotypes related to Weaver Syndrome:

55 31 (show top 50) (show all 86)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 55 31 obligate (100%) Obligate (100%) HP:0000252
2 intellectual disability, severe 55 31 occasional (7.5%) Occasional (29-5%) HP:0010864
3 cleft palate 55 31 obligate (100%) Obligate (100%) HP:0000175
4 protruding ear 55 31 obligate (100%) Obligate (100%) HP:0000411
5 intellectual disability, moderate 55 31 obligate (100%) Obligate (100%) HP:0002342
6 narrow mouth 55 31 obligate (100%) Obligate (100%) HP:0000160
7 decreased body weight 55 31 obligate (100%) Obligate (100%) HP:0004325
8 seizures 31 HP:0001250
9 joint stiffness 31 frequent (33%) HP:0001387
10 thin nail 31 hallmark (90%) HP:0001816
11 macrocephaly 31 hallmark (90%) HP:0000256
12 hypertelorism 31 hallmark (90%) HP:0000316
13 finger syndactyly 31 occasional (7.5%) HP:0006101
14 clinodactyly 31 HP:0030084
15 intellectual disability 31 hallmark (90%) HP:0001249
16 spasticity 31 hallmark (90%) HP:0001257
17 dysarthria 31 HP:0001260
18 scoliosis 31 occasional (7.5%) HP:0002650
19 kyphosis 31 HP:0002808
20 inguinal hernia 31 frequent (33%) HP:0000023
21 mandibular prognathia 31 HP:0000303
22 macrotia 31 hallmark (90%) HP:0000400
23 behavioral abnormality 31 HP:0000708
24 global developmental delay 31 hallmark (90%) HP:0001263
25 depressed nasal bridge 31 HP:0005280
26 delayed speech and language development 31 HP:0000750
27 umbilical hernia 31 HP:0001537
28 broad thumb 31 frequent (33%) HP:0011304
29 hypertonia 31 HP:0001276
30 feeding difficulties in infancy 31 frequent (33%) HP:0008872
31 long philtrum 31 hallmark (90%) HP:0000343
32 micrognathia 31 hallmark (90%) HP:0000347
33 abnormality of the metaphysis 31 hallmark (90%) HP:0000944
34 retrognathia 31 hallmark (90%) HP:0000278
35 strabismus 31 HP:0000486
36 coxa valga 31 HP:0002673
37 joint hyperflexibility 31 occasional (7.5%) HP:0005692
38 epicanthus 31 HP:0000286
39 slurred speech 31 HP:0001350
40 cryptorchidism 31 occasional (7.5%) HP:0000028
41 metatarsus adductus 31 HP:0001840
42 hypoplastic toenails 31 hallmark (90%) HP:0001800
43 abnormality of the fingernails 31 hallmark (90%) HP:0001231
44 inverted nipples 31 HP:0003186
45 pes cavus 31 occasional (7.5%) HP:0001761
46 broad forehead 31 hallmark (90%) HP:0000337
47 hypoplastic iliac wing 31 HP:0002866
48 low-set, posteriorly rotated ears 31 hallmark (90%) HP:0000368
49 downslanted palpebral fissures 31 occasional (7.5%) HP:0000494
50 sandal gap 31 occasional (7.5%) HP:0001852

UMLS symptoms related to Weaver Syndrome:


muscle spasticity

GenomeRNAi Phenotypes related to Weaver Syndrome according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.61 EED
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-155 9.61 EED
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 9.61 SUZ12
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.61 SUZ12
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.61 SUZ12
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 9.61 SUZ12 EED
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 9.61 EED
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 9.61 EED
9 Mildly decreased CFP-tsO45G cell surface transport GR00360-A-1 9.02 EED MAGEA4 NSD1 PNPLA8 SUZ12

Drugs & Therapeutics for Weaver Syndrome

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

(show top 50) (show all 160)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carbon monoxide Approved, Investigational Phase 4,Phase 1 630-08-0 281
2
Ethanol Approved Phase 4 64-17-5 702
3
Lorazepam Approved Phase 4 846-49-1 3958
4
Menthol Approved Phase 4 2216-51-5 16666
5
Chlorhexidine Approved, Vet_approved Phase 4 55-56-1 2713 9552079
6
Iodine Approved, Investigational Phase 4 7553-56-2 807
7
Povidone Approved Phase 4 9003-39-8
8
Povidone-iodine Approved Phase 4 25655-41-8
9
Azithromycin Approved Phase 4 83905-01-5 53477736 447043 55185
10
Tobramycin Approved, Investigational Phase 4 32986-56-4 36294 5496
11
Acamprosate Approved, Investigational Phase 4 77337-76-9 71158
12 Antimetabolites Phase 4,Phase 1
13 Neurotransmitter Agents Phase 4,Phase 1
14 Anti-Anxiety Agents Phase 4
15 Anticonvulsants Phase 4
16 Antiemetics Phase 4
17 Anti-Infective Agents Phase 4
18 Anti-Infective Agents, Local Phase 4
19 Autonomic Agents Phase 4,Phase 1
20 Central Nervous System Depressants Phase 4
21 GABA Agents Phase 4
22 GABA Modulators Phase 4
23 Gastrointestinal Agents Phase 4
24 Hypnotics and Sedatives Phase 4
25 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 1
26 Psychotropic Drugs Phase 4
27 Tranquilizing Agents Phase 4
28 Antidepressive Agents Phase 4
29 Antidepressive Agents, Second-Generation Phase 4
30 Vaccines Phase 4
31 Anti-Bacterial Agents Phase 4,Phase 1
32 Antibiotics, Antitubercular Phase 4,Phase 1
33 Blood Substitutes Phase 4
34 cadexomer iodine Phase 4
35 Chlorhexidine gluconate Phase 4
36 Dermatologic Agents Phase 4
37 Disinfectants Phase 4
38 Plasma Substitutes Phase 4
39 Tryptophan Nutraceutical Phase 4
40
Levodopa Approved Phase 3 59-92-7 6047
41
Thrombin Approved, Investigational Phase 3
42
Anastrozole Approved, Investigational Phase 3 120511-73-1 2187
43
Exemestane Approved, Investigational Phase 3 107868-30-4 60198
44
Letrozole Approved, Investigational Phase 3 112809-51-5 3902
45
Progesterone Approved, Vet_approved Phase 3 57-83-0 5994
46
Tamoxifen Approved Phase 3 10540-29-1 2733526
47
Treprostinil Approved, Investigational Phase 2, Phase 3 81846-19-7 6918140 54786
48
Dalteparin Approved Phase 3 9005-49-6
49
Heparin Approved, Investigational Phase 3 9005-49-6 46507594 772
50
Tinzaparin Approved Phase 3 9041-08-1, 9005-49-6 25244225

Interventional clinical trials:

(show top 50) (show all 93)

# Name Status NCT ID Phase Drugs
1 One vs. Three Hyperbaric Oxygen Treatments for Acute Carbon Monoxide Poisoning Completed NCT00465855 Phase 4
2 Treatment of Alcohol Withdrawal in Hospital Patients Completed NCT00249366 Phase 4 Lorazepam (drug);Lorazepam
3 Double Blind Study of Trp01 in Patients With Alzheimer's Disease Completed NCT00202124 Phase 4 Tryptophan
4 Safety and Immunogenicity of Simultaneous Tdap and IIV in Pregnant Women Recruiting NCT02783170 Phase 4
5 Project PROTECT: Protecting Nursing Homes From Infections and Hospitalization Recruiting NCT03118232 Phase 4 Chlorhexidine gluconate (CHG);Iodophor (10% povidone-iodine)
6 Testing the Effect of Adding Chronic Oral Azithromycin to Inhaled Tobramycin in People With CF Recruiting NCT02677701 Phase 4 azithromycin;placebo (for azithromycin);inhaled tobramycin
7 Study of Acamprosate to Prevent Alcohol Relapse in Criminal Justice Supervisees Terminated NCT00249379 Phase 4 Acamprosate
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 bovine thrombin
11 Adjuvant Ribociclib With Endocrine Therapy in Hormone Receptor+/HER2- High Risk Early Breast Cancer Recruiting NCT03078751 Phase 3 Ribociclib;Placebo;Adjuvant endocrine therapy
12 Safety and Efficacy of Inhaled Treprostinil in Adult PH With ILD Including CPFE Recruiting NCT02630316 Phase 2, Phase 3 Inhaled Treprostinil;Placebo
13 Extended Peri-operative Tinzaparin to Improve Disease-free Survival in Patients With Resectable Colorectal Cancer Recruiting NCT01455831 Phase 3 Tinzaparin;Tinzaparin
14 Study of Post-Op Adjuvant Concurrent Chemo-RT With or Without Nimotuzumab for Head & Neck Cancer Recruiting NCT00957086 Phase 3 Nimotuzumab;Placebo
15 PREVENTion of Clot in Orthopaedic Trauma Recruiting NCT02984384 Phase 3 Acetylsalicylic acid;Low Molecular Weight Heparin (LMWH)
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 veliflapon (DG-031)
18 Safety and Efficacy Study of TNX-650 to Treat Refractory Hodgkin's Lymphoma Unknown status NCT00441818 Phase 1, Phase 2 TNX-650
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 GWP42003;Placebo
25 Hyperbaric Oxygen for Civilian Post-concussive Syndrome Recruiting NCT01986205 Phase 2
26 A Study to Evaluate the Safety, Tolerability, and Activity of KD025 in Subjects With Idiopathic Pulmonary Fibrosis Recruiting NCT02688647 Phase 2 KD025;Standard of Care
27 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
28 Safety Study of IHL-305 (Irinotecan Liposome Injection) to Treat Advanced Solid Tumors Unknown status NCT00364143 Phase 1 IHL-305 (irinotecan liposome injection)
29 Enhanced Quitline Intervention in Smoking Cessation for Patients With Non-Metastatic Lung Cancer Completed NCT01457469 Phase 1 nicotine replacement therapy
30 Isoflavones for Promoting Calcium Absorption and Preventing Bone Loss in Post Menopausal Women Completed NCT00244907 Phase 1
31 Hyperbaric Oxygen, Neutrophil-oxidative Burst, and Cytokines Recruiting NCT02563678 Phase 1 Hyperbaric Oxygen
32 Healthy Summer Learners Recruiting NCT03321071 Phase 1
33 Classroom Activities Not yet recruiting NCT03394846 Phase 1
34 The Effect of Dairy on Bone Mass and Body Composition in 4th-8th Grade Boys and Girls Unknown status NCT00635583
35 Radiostereometric Analysis of Fracture Healing in Distal Femur Fractures Unknown status NCT01593176
36 Bioavailability of Potassium From Potatoes and Potassium Gluconate Unknown status NCT01881295
37 Dose Effects of SCF on Calcium Metabolism and GI Microflora in Adolescents Unknown status NCT01660503
38 Training Executive Functions to Facilitate Recovery Following Traumatic Brain Injury Completed NCT01993407
39 Galactooligosaccharide (GOS) Supplementation and Calcium Absorption in Girls Completed NCT01263847 Early Phase 1
40 Effect of Calcium Supplement Particle Size and Vitamin D Supplement on Calcium Retention in Adolescent Girls Completed NCT01005381
41 Integrated Infectious Disease Capacity-Building Evaluation Completed NCT01190540
42 Calcium, Dairy, and Body Fat in Adolescents Completed NCT00592137
43 Calcium Metabolism in Asian Adolescents Completed NCT00591708
44 Continuous Positive Airway Pressure to Improve Milder Obstructive Sleep Apnea Completed NCT00089752
45 Preparatory Work to Assess Adherence to Oral Chemotherapy Completed NCT02895542
46 The Good Patient Study Completed NCT02199548
47 mTBI Mechanisms of Action of HBO2 for Persistent Post-Concussive Symptoms Completed NCT01611194 Hyperbaric oxygen (HBO2) at 1.5 atms;Sham control 1.2 atms
48 Soluble Corn Fiber Effect on Bone Resorption in Post Menopausal Women Completed NCT02416947
49 Feasibility of Delivering a Quitline Based Smoking Cessation Intervention in Cancer Patients Completed NCT01434342 Nicotine Replacement Patch
50 Prospective, Non-Randomized Evaluation of Carbon Dioxide Gas as a Contrast Agent in Comparison With Iodinated Contrast in Endovascular Aneurysm Repair Completed NCT00520416

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:

# Genetic test Affiliating Genes
1 Weaver Syndrome 28 EZH2

Anatomical Context for Weaver Syndrome

MalaCards organs/tissues related to Weaver Syndrome:

38
Bone, Skin, Brain, Eye, Heart, Testes, Prostate

Publications for Weaver Syndrome

Articles related to Weaver Syndrome:

(show top 50) (show all 55)
# Title Authors Year
1
Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome. ( 29410511 )
2018
2
Novel EED mutation in patient with Weaver syndrome. ( 27868325 )
2017
3
Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome. ( 28229514 )
2017
4
Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro. ( 26694085 )
2016
5
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
6
Confirmation of a non-synonymous SNP in PNPLA8 as a candidate causal mutation for Weaver syndrome in Brown Swiss cattle. ( 26992691 )
2016
7
EZH2 mutation in an adolescent with Weaver syndrome developing acute myeloid leukemia and secondary hemophagocytic lymphohistiocytosis. ( 26762561 )
2016
8
Oral, radiographical, and clinical findings in Weaver syndrome: a case report. ( 26084782 )
2015
9
Weaver syndrome and defective cortical development: a rare association. ( 23239504 )
2013
10
Fine mapping for Weaver syndrome in Brown Swiss cattle and the identification of 41 concordant mutations across NRCAM, PNPLA8 and CTTNBP2. ( 23527149 )
2013
11
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype. ( 24214728 )
2013
12
Mutations in EZH2 cause Weaver syndrome. ( 22177091 )
2012
13
A patient with the Weaver syndrome in Puerto Rico: a case report. ( 22788078 )
2012
14
Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height. ( 22190405 )
2011
15
Weaver syndrome associated with bilateral congenital hip and unilateral subtalar dislocation. ( 20981173 )
2010
16
Acute lymphoblastic leukemia in Weaver syndrome. ( 20101679 )
2010
17
Weaver syndrome: A report of a rare genetic syndrome. ( 20407649 )
2009
18
Treatment of macroglossia in a child with Weaver syndrome. ( 18595662 )
2008
19
Weaver syndrome and neuroblastoma. ( 19011474 )
2008
20
The upper airway in Weaver syndrome. ( 16176320 )
2005
21
Hormonal and genetical assessment of a Japanese girl with weaver syndrome. ( 24790293 )
2004
22
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
23
Spectrum of NSD1 mutations in Sotos and Weaver syndromes. ( 12807965 )
2003
24
The difficulty of height prediction in Weaver syndrome. ( 11826875 )
2002
25
Weaver syndrome with neuroblastoma and cardiovascular anomalies. ( 11241499 )
2001
26
Cervical spine anomalies and tumors in Weaver syndrome. ( 11146472 )
2000
27
Excessive growth in a girl with Weaver syndrome. ( 11085195 )
2000
28
A probable case of familial Weaver syndrome associated with neoplasia. ( 10507738 )
1999
29
A case with Weaver syndrome operated for congenital cardiac defect. ( 10441697 )
1999
30
Pachygyria in Weaver syndrome. ( 10494098 )
1999
31
Weaver syndrome: autosomal dominant inheritance of the disorder. ( 9781912 )
1998
32
Familial neurofibromatosis type 1 associated with an overgrowth syndrome resembling Weaver syndrome. ( 9598729 )
1998
33
Autosomal dominant inheritance of Weaver syndrome. ( 9152841 )
1997
34
Propositus with Weaver syndrome and his mildly-affected mother: implication of nontraditional inheritance? ( 9240753 )
1996
35
Twins and their mildly affected mother with Weaver syndrome. ( 8131308 )
1993
36
Weaver syndrome. ( 1583661 )
1992
37
Weaver syndrome: a case without early overgrowth and review of the literature. ( 1956726 )
1991
38
Weaver syndrome in two Japanese children. ( 1785638 )
1991
39
A Japanese male infant with the Weaver syndrome. ( 2266602 )
1990
40
Weaver syndrome and instability of the upper cervical spine. ( 2319408 )
1990
41
Ultrastructural changes in Brown Swiss cattle affected with bovine progressive degenerative myeloencephalopathy (Weaver syndrome). ( 2127493 )
1990
42
A case of Marshall-Smith or Weaver syndrome. ( 2593121 )
1989
43
Weaver syndrome: the changing phenotype in an adult. ( 2750780 )
1989
44
A new autosomal recessive disorder resembling Weaver syndrome. ( 2596508 )
1989
45
Retarded skeletal maturation in Weaver syndrome. ( 3207030 )
1988
46
Bovine progressive degenerative myeloencephalopathy (weaver syndrome) in brown swiss cattle in Canada: a literature review and case report. ( 17423028 )
1988
47
A girl with the Weaver syndrome. ( 3585940 )
1987
48
Further delineation of Weaver syndrome. ( 2418189 )
1986
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:

71 (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

ClinVar genetic disease variations for Weaver Syndrome:

6 (show all 13)
# 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
12 EZH2 NM_004456.4(EZH2): c.1990G> T (p.Asp664Tyr) single nucleotide variant Likely pathogenic rs1060503430 GRCh38 Chromosome 7, 148810372: 148810372
13 EZH2 NM_004456.4(EZH2): c.2213C> A (p.Ala738Asp) single nucleotide variant Likely pathogenic rs1131692184 GRCh37 Chromosome 7, 148504781: 148504781

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

Pathways related to Weaver Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.3 EED EZH2 NSD1 SUZ12
2
Show member pathways
11.41 EED EZH2 NSD1 SUZ12
3 11.03 EZH2 NSD1
4 10.03 EED EZH2 SUZ12

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 pronucleus GO:0045120 9.16 EED EZH2
2 sex chromatin GO:0001739 8.96 EED SUZ12
3 ESC/E(Z) complex GO:0035098 8.8 EED EZH2 SUZ12

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.67 EED EZH2 NSD1 SUZ12
2 covalent chromatin modification GO:0016569 9.62 EED EZH2 NSD1 SUZ12
3 negative regulation of gene expression, epigenetic GO:0045814 9.43 EED EZH2 SUZ12
4 histone lysine methylation GO:0034968 9.4 EZH2 NSD1
5 negative regulation of G0 to G1 transition GO:0070317 9.33 EED EZH2 SUZ12
6 histone H3-K27 methylation GO:0070734 9.13 EED EZH2 SUZ12
7 histone methylation GO:0016571 8.92 EED EZH2 NSD1 SUZ12

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.58 EED EZH2 SUZ12
2 chromatin binding GO:0003682 9.56 EED EZH2 NSD1 SUZ12
3 chromatin DNA binding GO:0031490 9.43 EZH2 SUZ12
4 histone-lysine N-methyltransferase activity GO:0018024 9.37 EZH2 NSD1
5 RNA polymerase II core promoter sequence-specific DNA binding GO:0000979 9.33 EZH2 NSD1 SUZ12
6 promoter-specific chromatin binding GO:1990841 9.32 EZH2 SUZ12
7 histone methyltransferase activity GO:0042054 9.13 EED EZH2 SUZ12
8 histone methyltransferase activity (H3-K27 specific) GO:0046976 8.8 EED EZH2 SUZ12

Sources for Weaver Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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