WVS
MCID: WVR001
MIFTS: 60

Weaver Syndrome (WVS)

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

Aliases & Classifications for Weaver Syndrome

MalaCards integrated aliases for Weaver Syndrome:

Name: Weaver Syndrome 58 12 77 54 26 76 38 30 13 56 6 15 41 74
Wss 58 54 26 76
Weaver-Smith Syndrome 58 26 76
Weaver-Williams Syndrome 12 60
Weaver-Like Syndrome 12 45
Wvs 58 76
Mental Retardation, Microcephaly, Weight Deficiency, Unusual Facies, Clinodactyly, Bone Hypoplasia, and Cleft Palate 54
Overgrowth Syndrome with Accelerated Skeletal Maturation, Unusual Facies, and Camptodactyly 54
Camptodactyly-Overgrowth-Unusual Facies Syndrome 54
Camptodactyly - Overgrowth - Unusual Facies 54
Camptodactyly-Overgrowth-Unusual Facies 26
Weaver-Smith Syndrome; Wss 58
Weaver Williams Syndrome 54
Ezh2 Related Overgrowth 54
Weaver Syndrome, Type 2 41
Weaver Smith Syndrome 54
Weaver Like Syndrome 54
Weaver Syndrome 1 76
Weaver Syndrome 2 76
Wvs1 76
Wvs2 76

Characteristics:

Orphanet epidemiological data:

60
weaver-williams syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
weaver syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Weaver Syndrome

OMIM : 58 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 wrinkly skin syndrome and woodhouse-sakati 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 Chromatin organization. The drugs Carbon monoxide and Ethanol have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and bone, and related phenotypes are microcephaly and cleft palate

Genetics Home Reference : 26 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 : 54 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.

UniProtKB/Swiss-Prot : 76 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 : 77 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 47)
# Related Disease Score Top Affiliating Genes
1 wrinkly skin syndrome 11.8
2 woodhouse-sakati syndrome 11.6
3 sotos syndrome 1 11.4
4 wiedemann-steiner syndrome 11.1
5 intracranial aneurysm 10.2
6 cohen-gibson syndrome 10.2
7 blood group, junior system 10.1
8 bile reflux 10.1
9 fibrosarcoma 10.1
10 eosinophilia-myalgia syndrome 10.1
11 leukemia 10.1
12 acrocephalopolysyndactyly type iii 10.0
13 pulmonary hypertension, primary, 1 10.0
14 thrombosis 10.0
15 aortic coarctation 10.0
16 systemic lupus erythematosus 9.9
17 milia, multiple eruptive 9.9
18 microcephaly, epilepsy, and diabetes syndrome 9.9
19 cutaneous leishmaniasis 9.9
20 diamond-blackfan anemia 9.9
21 dengue shock syndrome 9.9
22 congenital hypothyroidism 9.9
23 intestinal schistosomiasis 9.9
24 colitis 9.9
25 gastric ulcer 9.9
26 gastroparesis 9.9
27 schistosomiasis 9.9
28 hypothyroidism 9.9
29 dermatitis 9.9
30 mastocytosis 9.9
31 duodenogastric reflux 9.9
32 anthrax disease 9.9
33 leishmaniasis 9.9
34 xanthogranulomatous cholecystitis 9.9
35 irritable bowel syndrome 9.9
36 macroglossia 9.9
37 neurofibromatosis, type i 9.9
38 neurofibromatosis, type iv, of riccardi 9.9
39 leukemia, acute myeloid 9.9
40 leukemia, acute lymphoblastic 9.9
41 hemophagocytic lymphohistiocytosis 9.9
42 autosomal recessive disease 9.9
43 lymphocytic leukemia 9.9
44 myeloid leukemia 9.9
45 pachygyria 9.9
46 extraosseous ewing's sarcoma 9.8 EZH2 SUZ12
47 hypertelorism 9.7 NSD1 SUZ12

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:

60 33 (show top 50) (show all 87)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 60 33 obligate (100%) Obligate (100%) HP:0000252
2 cleft palate 60 33 obligate (100%) Obligate (100%) HP:0000175
3 protruding ear 60 33 obligate (100%) Obligate (100%) HP:0000411
4 intellectual disability, moderate 60 33 obligate (100%) Obligate (100%) HP:0002342
5 narrow mouth 60 33 obligate (100%) Obligate (100%) HP:0000160
6 decreased body weight 60 33 obligate (100%) Obligate (100%) HP:0004325
7 macrocephaly 33 hallmark (90%) HP:0000256
8 hypertelorism 33 hallmark (90%) HP:0000316
9 intellectual disability 33 hallmark (90%) HP:0001249
10 spasticity 33 hallmark (90%) HP:0001257
11 macrotia 33 hallmark (90%) HP:0000400
12 global developmental delay 33 hallmark (90%) HP:0001263
13 long philtrum 33 hallmark (90%) HP:0000343
14 micrognathia 33 hallmark (90%) HP:0000347
15 abnormality of the metaphysis 33 hallmark (90%) HP:0000944
16 retrognathia 33 hallmark (90%) HP:0000278
17 hypoplastic toenails 33 hallmark (90%) HP:0001800
18 broad forehead 33 hallmark (90%) HP:0000337
19 low-set, posteriorly rotated ears 33 hallmark (90%) HP:0000368
20 redundant skin 33 hallmark (90%) HP:0001582
21 hoarse voice 33 hallmark (90%) HP:0001609
22 tall stature 33 hallmark (90%) HP:0000098
23 accelerated skeletal maturation 33 hallmark (90%) HP:0005616
24 abnormally low-pitched voice 33 hallmark (90%) HP:0010300
25 deep-set nails 33 hallmark (90%) HP:0001814
26 thin nail 33 hallmark (90%) HP:0001816
27 abnormal fingernail morphology 33 hallmark (90%) HP:0001231
28 inguinal hernia 33 frequent (33%) HP:0000023
29 joint stiffness 33 frequent (33%) HP:0001387
30 broad thumb 33 frequent (33%) HP:0011304
31 feeding difficulties in infancy 33 frequent (33%) HP:0008872
32 round face 33 frequent (33%) HP:0000311
33 deep philtrum 33 frequent (33%) HP:0002002
34 fine hair 33 frequent (33%) HP:0002213
35 camptodactyly of finger 33 frequent (33%) HP:0100490
36 large hands 33 frequent (33%) HP:0001176
37 broad foot 33 frequent (33%) HP:0001769
38 intellectual disability, severe 60 33 occasional (7.5%) Occasional (29-5%) HP:0010864
39 finger syndactyly 33 occasional (7.5%) HP:0006101
40 scoliosis 33 occasional (7.5%) HP:0002650
41 joint hyperflexibility 33 occasional (7.5%) HP:0005692
42 cryptorchidism 33 occasional (7.5%) HP:0000028
43 pes cavus 33 occasional (7.5%) HP:0001761
44 talipes equinovarus 33 occasional (7.5%) HP:0001762
45 downslanted palpebral fissures 33 occasional (7.5%) HP:0000494
46 sandal gap 33 occasional (7.5%) HP:0001852
47 hypoplasia of penis 33 occasional (7.5%) HP:0008736
48 abnormality of cardiovascular system morphology 33 occasional (7.5%) HP:0030680
49 clinodactyly 33 HP:0030084
50 seizures 33 HP:0001250

Symptoms via clinical synopsis from OMIM:

58
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 Ribs Sternum 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

UMLS symptoms related to Weaver Syndrome:


muscle spasticity

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-155 9.56 EED
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 9.56 SUZ12
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.56 SUZ12
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.56 SUZ12
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 9.56 EED SUZ12
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 9.56 EED
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 9.56 EED
8 Mildly decreased CFP-tsO45G cell surface transport GR00360-A-1 9.02 CUL1 EED NSD1 PNPLA8 SUZ12

MGI Mouse Phenotypes related to Weaver Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.26 CUL1 EZH2 NSD1 SUZ12
2 growth/size/body region MP:0005378 9.02 CUL1 EED EZH2 PNPLA8 SUZ12

Drugs & Therapeutics for Weaver Syndrome

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

(show top 50) (show all 223)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carbon monoxide Approved, Investigational Phase 4,Phase 2,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
Povidone Approved Phase 4 9003-39-8
5
Povidone-iodine Approved Phase 4 25655-41-8
6
Iodine Approved, Investigational Phase 4 7553-56-2 807
7
Chlorhexidine Approved, Vet_approved Phase 4 55-56-1 2713 9552079
8
Acamprosate Approved, Investigational Phase 4 77337-76-9 71158
9 Antimetabolites Phase 4,Phase 3,Phase 1
10 Neurotransmitter Agents Phase 4,Phase 1,Early Phase 1
11 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 1,Early Phase 1,Not Applicable
12 Tranquilizing Agents Phase 4
13 GABA Agents Phase 4
14 Autonomic Agents Phase 4,Phase 1,Early Phase 1
15 Anticonvulsants Phase 4
16 GABA Modulators Phase 4
17 Anti-Infective Agents Phase 4,Phase 3,Phase 1
18 Central Nervous System Depressants Phase 4,Not Applicable
19 Hypnotics and Sedatives Phase 4,Phase 1
20 Psychotropic Drugs Phase 4
21 Antiemetics Phase 4
22 Anti-Infective Agents, Local Phase 4
23 Gastrointestinal Agents Phase 4,Not Applicable
24 Anti-Anxiety Agents Phase 4
25 Antidepressive Agents Phase 4
26 Tryptophan Phase 4
27 Antidepressive Agents, Second-Generation Phase 4
28 Antibiotics, Antitubercular Phase 4,Phase 1
29 Plasma Substitutes Phase 4
30 Dermatologic Agents Phase 4
31 Chlorhexidine gluconate Phase 4
32 cadexomer iodine Phase 4
33 Blood Substitutes Phase 4
34 Anti-Bacterial Agents Phase 4,Phase 1
35 Disinfectants Phase 4
36
Levodopa Approved Phase 3 59-92-7 6047
37
Thrombin Approved, Investigational Phase 3
38
Vinorelbine Approved, Investigational Phase 3 71486-22-1 44424639 60780
39
Capecitabine Approved, Investigational Phase 3 154361-50-9 60953
40
Gemcitabine Approved Phase 3 95058-81-4 60750
41
Treprostinil Approved, Investigational Phase 2, Phase 3 81846-19-7 6918140 54786
42
Tinzaparin Approved Phase 3 9041-08-1, 9005-49-6 25244225
43
Heparin Approved, Investigational Phase 3 9005-49-6 46507594 772
44
Dalteparin Approved Phase 3 9005-49-6
45
Cisplatin Approved Phase 3 15663-27-1 2767 441203 84093
46
Hydrocortisone acetate Approved, Vet_approved Phase 3 50-03-3
47
Hydrocortisone Approved, Vet_approved Phase 3 50-23-7 5754
48
Enoxaparin Approved Phase 3 9005-49-6 772
49
Aspirin Approved, Vet_approved Phase 3,Not Applicable 50-78-2 2244
50
Vitamin C Approved, Nutraceutical Phase 3,Not Applicable 50-81-7 54670067 5785

Interventional clinical trials:

(show top 50) (show all 105)
# 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 Project PROTECT: Protecting Nursing Homes From Infections and Hospitalization Recruiting NCT03118232 Phase 4 Chlorhexidine gluconate (CHG);Iodophor (10% povidone-iodine)
5 Study of Acamprosate to Prevent Alcohol Relapse in Criminal Justice Supervisees Terminated NCT00249379 Phase 4 Acamprosate
6 Improving Patient-centered Care Using an Inventory Completed NCT01843803 Phase 2, Phase 3
7 Phase I Deep Brain Stimulation (DBS) vs. Best Medical Therapy (BMT) Trial Completed NCT00056563 Phase 3
8 Study of Recombinant Human Thrombin for Bleeding During Surgery Completed NCT00245336 Phase 3 bovine thrombin
9 ASCENT-Study of Sacituzumab Govitecan in Refractory/Relapsed Triple-Negative Breast Cancer Recruiting NCT02574455 Phase 3 Sacituzumab govitecan;Eribulin;Capecitabine;Gemcitabine;Vinorelbine
10 Safety and Efficacy of Inhaled Treprostinil in Adult PH With ILD Including CPFE Recruiting NCT02630316 Phase 2, Phase 3 Inhaled Treprostinil;Placebo
11 Extended Peri-operative Tinzaparin to Improve Disease-free Survival in Patients With Resectable Colorectal Cancer Recruiting NCT01455831 Phase 3 Tinzaparin;Tinzaparin
12 Study of Post-Op Adjuvant Concurrent Chemo-RT With or Without Nimotuzumab for Head & Neck Cancer Recruiting NCT00957086 Phase 3 Nimotuzumab;Placebo
13 Vitamin C, Thiamine, and Steroids in Sepsis Recruiting NCT03509350 Phase 3 Vitamin C;Thiamine;Hydrocortisone;Vitamin C Placebo;Thiamine Placebo;Hydrocortisone Placebo
14 PREVENTion of Clot in Orthopaedic Trauma Recruiting NCT02984384 Phase 3 Acetylsalicylic acid;Low Molecular Weight Heparin (LMWH)
15 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)
16 Safety and Efficacy Study of TNX-650 to Treat Refractory Hodgkin's Lymphoma Unknown status NCT00441818 Phase 1, Phase 2 TNX-650
17 Randomized Clinical Trial of Nasal Turbinate Reduction to Improve Continuous Positive Airway Pressure (CPAP) Outcomes for Sleep Apnea Completed NCT00503802 Phase 2
18 mTBI Mechanisms of Action of HBO2 for Persistent Post-Concussive Symptoms Completed NCT01611194 Phase 2 Hyperbaric oxygen (HBO2) at 1.5 atms;Sham control 1.2 atms
19 Fructooligosaccharide and Calcium Absorption in Adolescent Girls Completed NCT01005927 Phase 1, Phase 2
20 Hyperbaric Oxygen Therapy in Chronic Stable Brain Injury Completed NCT00830453 Phase 2
21 Girls In Recovery From Life Stress (GIRLS) Study Completed NCT00751946 Phase 2
22 Hyperbaric Oxygen for Traumatic and Non-traumatic Brain Injury Recruiting NCT01986205 Phase 2
23 Dose Escalation and Expansion Study of FLX475 Monotherapy and in Combination With Pembrolizumab Recruiting NCT03674567 Phase 1, Phase 2 FLX475;Pembrolizumab
24 Assessment of INS1007 in Subjects With Non-Cystic Fibrosis Bronchiectasis Recruiting NCT03218917 Phase 2 INS1007 10 mg oral tablet;INS1007 25 mg oral tablet;Placebo Oral Tablet
25 Safety, Tolerability, Immunogenicity, and Antitumor Activity of GEN-009 Adjuvanted Vaccine Recruiting NCT03633110 Phase 1, Phase 2 Nivolumab;Pembrolizumab
26 Retention of Potassium From Potatoes and Potassium Gluconate, and the Effect on Blood Pressure. Active, not recruiting NCT02697708 Phase 1, Phase 2
27 Effect of Blueberries on Bone Turnover Active, not recruiting NCT02630797 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 Recruiting NCT03394846 Phase 1
34 Effects of Commonly Used Medications on Mood and Choice Recruiting NCT03652740 Phase 1 Effects of commonly used medications on mood and medication preference
35 Trial of eRapa in Prostate Cancer Patients Recruiting NCT03618355 Phase 1 eRapa (encapsulated rapamycin)
36 Study to Evaluate Safety and MTD of Epidural Resiniferatoxin Injection for Treatment of Intractable Cancer Pain Recruiting NCT03226574 Phase 1 Resiniferatoxin
37 Radiostereometric Analysis of Fracture Healing in Distal Femur Fractures Unknown status NCT01593176
38 Normative Datasets for Assessments Planned for Mild Traumatic Brain Injury (NORMAL) Completed NCT01925963
39 Integrated Infectious Disease Capacity-Building Evaluation Completed NCT01190540 Not Applicable
40 Calcium, Dairy, and Body Fat in Adolescents Completed NCT00592137 Not Applicable
41 Continuous Positive Airway Pressure to Improve Milder Obstructive Sleep Apnea Completed NCT00089752 Not Applicable
42 Preparatory Work to Assess Adherence to Oral Chemotherapy Completed NCT02895542
43 The Good Patient Study Completed NCT02199548
44 Training Executive Functions to Facilitate Recovery Following Traumatic Brain Injury Completed NCT01993407 Not Applicable
45 Galactooligosaccharide (GOS) Supplementation and Calcium Absorption in Girls Completed NCT01263847 Early Phase 1
46 Feasibility of Delivering a Quitline Based Smoking Cessation Intervention in Cancer Patients Completed NCT01434342 Early Phase 1 Nicotine Replacement Patch
47 Soluble Corn Fiber Effect on Bone Resorption in Post Menopausal Women Completed NCT02416947 Not Applicable
48 Effect of Calcium Supplement Particle Size and Vitamin D Supplement on Calcium Retention in Adolescent Girls Completed NCT01005381 Not Applicable
49 Prospective, Non-Randomized Evaluation of Carbon Dioxide Gas as a Contrast Agent in Comparison With Iodinated Contrast in Endovascular Aneurysm Repair Completed NCT00520416
50 The Effect of Dairy on Bone Mass and Body Composition in 4th-8th Grade Boys and Girls Completed NCT00635583 Not Applicable

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 30 EZH2

Anatomical Context for Weaver Syndrome

MalaCards organs/tissues related to Weaver Syndrome:

42
Skin, Brain, Bone, Eye, Myeloid, Heart, Testis

Publications for Weaver Syndrome

Articles related to Weaver Syndrome:

(show top 50) (show all 79)
# Title Authors Year
1
EED and EZH2 constitutive variants: A study to expand the Cohen-Gibson syndrome phenotype and contrast it with Weaver syndrome. ( 30793471 )
2019
2
Novel and facile criterion to assess the accuracy of WSS estimation by 4D flow MRI. ( 30743192 )
2019
3
Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome. ( 29410511 )
2018
4
Clinically suspected anaphylaxis induced by sugammadex in a patient with Weaver syndrome undergoing restrictive mammoplasty surgery: A case report with the literature review. ( 29505006 )
2018
5
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? ( 29802153 )
2018
6
Correction: Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height. ( 30613354 )
2018
7
Multidirectional WSS disturbances in stenotic turbulent flows: A pre- and post-intervention study in an aortic coarctation. ( 27919417 )
2017
8
Novel EED mutation in patient with Weaver syndrome. ( 27868325 )
2017
9
Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome. ( 28229514 )
2017
10
Demonstration of a 3 × 4 tunable bandwidth WSS with tunable attenuation using compact spatial light paths. ( 28788798 )
2017
11
EZH2 mutation in an adolescent with Weaver syndrome developing acute myeloid leukemia and secondary hemophagocytic lymphohistiocytosis. ( 26762561 )
2016
12
Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro. ( 26694085 )
2016
13
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
14
Confirmation of a non-synonymous SNP in PNPLA8 as a candidate causal mutation for Weaver syndrome in Brown Swiss cattle. ( 26992691 )
2016
15
Low WSS and High OSI Measured by 3D Cine PC MRI Reflect High Pulmonary Artery Pressures in Suspected Secondary Pulmonary Arterial Hypertension. ( 26567758 )
2016
16
Oral, radiographical, and clinical findings in Weaver syndrome: a case report. ( 26084782 )
2015
17
Development of a new tool to evaluate work support needs and guide vocational rehabilitation: the work-ability support scale (WSS). ( 24786967 )
2015
18
Spectrally-efficient all-optical OFDM by WSS and AWG. ( 25969193 )
2015
19
Concepts of relative sample outlier (RSO) and weighted sample similarity (WSS) for improving performance of clustering genes: co-function and co-regulation. ( 26333265 )
2015
20
Low WSS Induces Intimal Thickening, while Large WSS Variation and Inflammation Induce Medial Thinning, in an Animal Model of Atherosclerosis. ( 26575029 )
2015
21
High WSS or low WSS? Complex interactions of hemodynamics with intracranial aneurysm initiation, growth, and rupture: toward a unifying hypothesis. ( 23598838 )
2014
22
Weaver syndrome and defective cortical development: a rare association. ( 23239504 )
2013
23
Fine mapping for Weaver syndrome in Brown Swiss cattle and the identification of 41 concordant mutations across NRCAM, PNPLA8 and CTTNBP2. ( 23527149 )
2013
24
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype. ( 24214728 )
2013
25
Mutations in EZH2 cause Weaver syndrome. ( 22177091 )
2012
26
A patient with the Weaver syndrome in Puerto Rico: a case report. ( 22788078 )
2012
27
Flow diversion treatment: intra-aneurismal blood flow velocity and WSS reduction are parameters to predict aneurysm thrombosis. ( 22926629 )
2012
28
Transmission of 1.936 Tb/s (11 × 176 Gb/s) DP-16QAM superchannel signals over 640 km SSMF with EDFA only and 300 GHz WSS channel. ( 23262855 )
2012
29
Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height. ( 22190405 )
2011
30
A novel splice site mutation in gene C2orf37 underlying Woodhouse-Sakati syndrome (WSS) in a consanguineous family of Pakistani origin. ( 21963443 )
2011
31
Performance of support-vector-machine-based classification on 15 systematic review topics evaluated with the WSS@95 measure. ( 21169622 )
2011
32
Acute lymphoblastic leukemia in Weaver syndrome. ( 20101679 )
2010
33
Weaver syndrome associated with bilateral congenital hip and unilateral subtalar dislocation. ( 20981173 )
2010
34
Rapid diagnosis of vibriosis and white spot syndrome (WSS) in the culture of shrimp, Penaeus monodon in Philippines. ( 20661640 )
2010
35
Weaver syndrome: A report of a rare genetic syndrome. ( 20407649 )
2009
36
Coronary artery WSS profiling using a geometry reconstruction based on biplane angiography. ( 19229618 )
2009
37
Treatment of macroglossia in a child with Weaver syndrome. ( 18595662 )
2008
38
Weaver syndrome and neuroblastoma. ( 19011474 )
2008
39
The determination of gas phase dry deposition fluxes and mass transfer coefficients (MTCs) of polychlorinated biphenyls (PCBs) using a modified water surface sampler (WSS). ( 17481697 )
2007
40
The upper airway in Weaver syndrome. ( 16176320 )
2005
41
Hormonal and genetical assessment of a Japanese girl with weaver syndrome. ( 24790293 )
2004
42
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
43
The difficulty of height prediction in Weaver syndrome. ( 11826875 )
2002
44
Weaver syndrome with neuroblastoma and cardiovascular anomalies. ( 11241499 )
2001
45
Excessive growth in a girl with Weaver syndrome. ( 11085195 )
2000
46
Cervical spine anomalies and tumors in Weaver syndrome. ( 11146472 )
2000
47
The influence of an endogenous beta3 subunit on recombinant GABA(A) receptor assembly and pharmacology in WSS-1 cells and transiently transfected HEK293 cells. ( 10728882 )
2000
48
A new bacterial white spot syndrome (BWSS) in cultured tiger shrimp Penaeus monodon and its comparison with white spot syndrome (WSS) caused by virus. ( 10907134 )
2000
49
Pachygyria in Weaver syndrome. ( 10494098 )
1999
50
A case with Weaver syndrome operated for congenital cardiac defect. ( 10441697 )
1999

Variations for Weaver Syndrome

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

76 (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 top 50) (show all 365)
# 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.2080C> T (p.His694Tyr) single nucleotide variant Pathogenic rs193921147 GRCh38 Chromosome 7, 148809340: 148809340
4 EZH2 NM_004456.4(EZH2): c.394C> T (p.Pro132Ser) single nucleotide variant Pathogenic rs193921148 GRCh37 Chromosome 7, 148526910: 148526910
5 EZH2 NM_004456.4(EZH2): c.394C> T (p.Pro132Ser) single nucleotide variant Pathogenic rs193921148 GRCh38 Chromosome 7, 148829818: 148829818
6 EZH2 NM_004456.4(EZH2): c.2044G> A (p.Ala682Thr) single nucleotide variant Pathogenic rs397515547 GRCh37 Chromosome 7, 148506468: 148506468
7 EZH2 NM_004456.4(EZH2): c.2044G> A (p.Ala682Thr) single nucleotide variant Pathogenic rs397515547 GRCh38 Chromosome 7, 148809376: 148809376
8 EZH2 NM_004456.4(EZH2): c.2233G> A (p.Glu745Lys) single nucleotide variant Pathogenic rs397515548 GRCh37 Chromosome 7, 148504761: 148504761
9 EZH2 NM_004456.4(EZH2): c.2233G> A (p.Glu745Lys) single nucleotide variant Pathogenic rs397515548 GRCh38 Chromosome 7, 148807669: 148807669
10 NSD1 NM_022455.4(NSD1): c.1482C> T (p.Cys494=) single nucleotide variant Benign rs1363405 GRCh37 Chromosome 5, 176636882: 176636882
11 NSD1 NM_022455.4(NSD1): c.1482C> T (p.Cys494=) single nucleotide variant Benign rs1363405 GRCh38 Chromosome 5, 177209881: 177209881
12 NSD1 NM_022455.4(NSD1): c.1749G> A (p.Glu583=) single nucleotide variant Benign rs3733874 GRCh37 Chromosome 5, 176637149: 176637149
13 NSD1 NM_022455.4(NSD1): c.1749G> A (p.Glu583=) single nucleotide variant Benign rs3733874 GRCh38 Chromosome 5, 177210148: 177210148
14 NSD1 NM_022455.4(NSD1): c.1792T> C (p.Leu598=) single nucleotide variant Benign/Likely benign rs28932176 GRCh37 Chromosome 5, 176637192: 176637192
15 NSD1 NM_022455.4(NSD1): c.1792T> C (p.Leu598=) single nucleotide variant Benign/Likely benign rs28932176 GRCh38 Chromosome 5, 177210191: 177210191
16 NSD1 NM_022455.4(NSD1): c.1840G> T (p.Val614Leu) single nucleotide variant Benign rs3733875 GRCh37 Chromosome 5, 176637240: 176637240
17 NSD1 NM_022455.4(NSD1): c.1840G> T (p.Val614Leu) single nucleotide variant Benign rs3733875 GRCh38 Chromosome 5, 177210239: 177210239
18 NSD1 NM_022455.4(NSD1): c.2176T> C (p.Ser726Pro) single nucleotide variant Benign rs28932178 GRCh37 Chromosome 5, 176637576: 176637576
19 NSD1 NM_022455.4(NSD1): c.2176T> C (p.Ser726Pro) single nucleotide variant Benign rs28932178 GRCh38 Chromosome 5, 177210575: 177210575
20 NSD1 NM_022455.4(NSD1): c.2835T> C (p.Ser945=) single nucleotide variant Conflicting interpretations of pathogenicity rs145987330 GRCh37 Chromosome 5, 176638235: 176638235
21 NSD1 NM_022455.4(NSD1): c.2835T> C (p.Ser945=) single nucleotide variant Conflicting interpretations of pathogenicity rs145987330 GRCh38 Chromosome 5, 177211234: 177211234
22 NSD1 NM_022455.4(NSD1): c.3705T> C (p.Asn1235=) single nucleotide variant Benign rs28932181 GRCh37 Chromosome 5, 176639105: 176639105
23 NSD1 NM_022455.4(NSD1): c.3705T> C (p.Asn1235=) single nucleotide variant Benign rs28932181 GRCh38 Chromosome 5, 177212104: 177212104
24 NSD1 NM_022455.4(NSD1): c.4498-10delT deletion Benign/Likely benign rs200890017 GRCh37 Chromosome 5, 176675172: 176675172
25 NSD1 NM_022455.4(NSD1): c.4498-10delT deletion Benign/Likely benign rs200890017 GRCh38 Chromosome 5, 177248171: 177248171
26 NSD1 NM_022455.4(NSD1): c.5781C> G (p.Ala1927=) single nucleotide variant Benign/Likely benign rs61749654 GRCh37 Chromosome 5, 176707724: 176707724
27 NSD1 NM_022455.4(NSD1): c.5781C> G (p.Ala1927=) single nucleotide variant Benign/Likely benign rs61749654 GRCh38 Chromosome 5, 177280723: 177280723
28 NSD1 NM_022455.4(NSD1): c.6750G> A (p.Met2250Ile) single nucleotide variant Benign rs35848863 GRCh37 Chromosome 5, 176721119: 176721119
29 NSD1 NM_022455.4(NSD1): c.6750G> A (p.Met2250Ile) single nucleotide variant Benign rs35848863 GRCh38 Chromosome 5, 177294118: 177294118
30 NSD1 NM_022455.4(NSD1): c.6782T> C (p.Met2261Thr) single nucleotide variant Benign rs34165241 GRCh37 Chromosome 5, 176721151: 176721151
31 NSD1 NM_022455.4(NSD1): c.6782T> C (p.Met2261Thr) single nucleotide variant Benign rs34165241 GRCh38 Chromosome 5, 177294150: 177294150
32 NSD1 NM_022455.4(NSD1): c.6829T> C (p.Leu2277=) single nucleotide variant Benign rs28580074 GRCh37 Chromosome 5, 176721198: 176721198
33 NSD1 NM_022455.4(NSD1): c.6829T> C (p.Leu2277=) single nucleotide variant Benign rs28580074 GRCh38 Chromosome 5, 177294197: 177294197
34 NSD1 NM_022455.4(NSD1): c.6903G> C (p.Gly2301=) single nucleotide variant Benign rs11740250 GRCh37 Chromosome 5, 176721272: 176721272
35 NSD1 NM_022455.4(NSD1): c.6903G> C (p.Gly2301=) single nucleotide variant Benign rs11740250 GRCh38 Chromosome 5, 177294271: 177294271
36 NSD1 NM_022455.4(NSD1): c.7636G> A (p.Ala2546Thr) single nucleotide variant Benign/Likely benign rs78247455 GRCh37 Chromosome 5, 176722005: 176722005
37 NSD1 NM_022455.4(NSD1): c.7636G> A (p.Ala2546Thr) single nucleotide variant Benign/Likely benign rs78247455 GRCh38 Chromosome 5, 177295004: 177295004
38 NSD1 NM_022455.4(NSD1): c.7850T> C (p.Leu2617Ser) single nucleotide variant Benign/Likely benign rs77618751 GRCh37 Chromosome 5, 176722219: 176722219
39 NSD1 NM_022455.4(NSD1): c.7850T> C (p.Leu2617Ser) single nucleotide variant Benign/Likely benign rs77618751 GRCh38 Chromosome 5, 177295218: 177295218
40 EZH2 NM_004456.4(EZH2): c.1459G> A (p.Ala487Thr) single nucleotide variant Likely benign rs201135441 GRCh37 Chromosome 7, 148513822: 148513822
41 EZH2 NM_004456.4(EZH2): c.1459G> A (p.Ala487Thr) single nucleotide variant Likely benign rs201135441 GRCh38 Chromosome 7, 148816730: 148816730
42 EZH2 NM_004456.4(EZH2): c.553G> C (p.Asp185His) single nucleotide variant Benign rs2302427 GRCh37 Chromosome 7, 148525904: 148525904
43 EZH2 NM_004456.4(EZH2): c.553G> C (p.Asp185His) single nucleotide variant Benign rs2302427 GRCh38 Chromosome 7, 148828812: 148828812
44 EZH2 NM_004456.4(EZH2): c.965A> G (p.Asn322Ser) single nucleotide variant Uncertain significance rs151023145 GRCh37 Chromosome 7, 148516722: 148516722
45 EZH2 NM_004456.4(EZH2): c.965A> G (p.Asn322Ser) single nucleotide variant Uncertain significance rs151023145 GRCh38 Chromosome 7, 148819630: 148819630
46 EZH2 NM_004456.4(EZH2): c.1240+9C> A single nucleotide variant Benign rs114320893 GRCh37 Chromosome 7, 148514960: 148514960
47 EZH2 NM_004456.4(EZH2): c.1240+9C> A single nucleotide variant Benign rs114320893 GRCh38 Chromosome 7, 148817868: 148817868
48 EZH2 NM_004456.4(EZH2): c.2110+6T> G single nucleotide variant Benign rs41277434 GRCh37 Chromosome 7, 148506396: 148506396
49 EZH2 NM_004456.4(EZH2): c.2110+6T> G single nucleotide variant Benign rs41277434 GRCh38 Chromosome 7, 148809304: 148809304
50 NSD1 NM_022455.4(NSD1): c.339C> T (p.Cys113=) single nucleotide variant Benign/Likely benign rs77093936 GRCh37 Chromosome 5, 176562443: 176562443

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:

38
# 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 nucleoplasm GO:0005654 9.65 CUL1 EED EZH2 NSD1 SUZ12
2 pronucleus GO:0045120 9.16 EED EZH2
3 sex chromatin GO:0001739 8.96 EED SUZ12
4 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 chromatin organization GO:0006325 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 9.56 EED EZH2 NSD1 SUZ12
2 chromatin binding GO:0003682 9.46 EED EZH2 NSD1 SUZ12
3 chromatin DNA binding GO:0031490 9.4 EZH2 SUZ12
4 promoter-specific chromatin binding GO:1990841 9.37 EZH2 SUZ12
5 histone-lysine N-methyltransferase activity GO:0018024 9.32 EZH2 NSD1
6 histone methyltransferase activity GO:0042054 9.13 EED EZH2 SUZ12
7 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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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