MCID: WVR001
MIFTS: 61

Weaver Syndrome

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

Aliases & Classifications for Weaver Syndrome

MalaCards integrated aliases for Weaver Syndrome:

Name: Weaver Syndrome 57 12 76 53 25 75 37 29 13 55 6 15 40 73
Wss 57 53 25 75
Weaver-Smith Syndrome 57 25 75
Weaver-Williams Syndrome 12 59
Weaver-Like Syndrome 12 44
Wvs 57 75
Mental Retardation, Microcephaly, Weight Deficiency, Unusual Facies, Clinodactyly, Bone Hypoplasia, and Cleft Palate 53
Overgrowth Syndrome with Accelerated Skeletal Maturation, Unusual Facies, and Camptodactyly 53
Camptodactyly-Overgrowth-Unusual Facies Syndrome 53
Camptodactyly - Overgrowth - Unusual Facies 53
Camptodactyly-Overgrowth-Unusual Facies 25
Weaver-Smith Syndrome; Wss 57
Weaver Williams Syndrome 53
Ezh2 Related Overgrowth 53
Weaver Syndrome, Type 2 40
Weaver Smith Syndrome 53
Weaver Like Syndrome 53
Weaver Syndrome 1 75
Weaver Syndrome 2 75
Wvs1 75
Wvs2 75

Characteristics:

Orphanet epidemiological data:

59
weaver-williams syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
weaver syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Weaver Syndrome

OMIM : 57 Weaver syndrome comprises pre- and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay. Most cases are sporadic, although autosomal dominant inheritance has been reported. Although there is phenotypic overlap between Weaver syndrome and Sotos syndrome (117550), distinguishing features of Weaver syndrome include broad forehead and face, ocular hypertelorism, prominent wide philtrum, micrognathia, deep horizontal chin groove, and deep-set nails. In addition, carpal bone development is advanced over the rest of the hand in Weaver syndrome, whereas in Sotos syndrome carpal bone development is at or behind that of the rest of the hand (summary by Basel-Vanagaite, 2010). 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 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 bone, skin and brain, and related phenotypes are microcephaly and intellectual disability, severe

UniProtKB/Swiss-Prot : 75 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 : 53 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.

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).

Wikipedia : 76 Weaver syndrome (also called Weaver-Smith syndrome) is an extremely rare congenital disorder associated... more...

Related Diseases for Weaver Syndrome

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:

57
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

GenitourinaryInternal GenitaliaMale:
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:

59 32 (show top 50) (show all 87)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 59 32 obligate (100%) Obligate (100%) HP:0000252
2 intellectual disability, severe 59 32 occasional (7.5%) Occasional (29-5%) HP:0010864
3 cleft palate 59 32 obligate (100%) Obligate (100%) HP:0000175
4 protruding ear 59 32 obligate (100%) Obligate (100%) HP:0000411
5 intellectual disability, moderate 59 32 obligate (100%) Obligate (100%) HP:0002342
6 narrow mouth 59 32 obligate (100%) Obligate (100%) HP:0000160
7 decreased body weight 59 32 obligate (100%) Obligate (100%) HP:0004325
8 macrocephaly 32 hallmark (90%) HP:0000256
9 hypertelorism 32 hallmark (90%) HP:0000316
10 finger syndactyly 32 occasional (7.5%) HP:0006101
11 clinodactyly 32 HP:0030084
12 intellectual disability 32 hallmark (90%) HP:0001249
13 seizures 32 HP:0001250
14 muscular hypotonia 32 HP:0001252
15 spasticity 32 hallmark (90%) HP:0001257
16 dysarthria 32 HP:0001260
17 scoliosis 32 occasional (7.5%) HP:0002650
18 kyphosis 32 HP:0002808
19 inguinal hernia 32 frequent (33%) HP:0000023
20 mandibular prognathia 32 HP:0000303
21 macrotia 32 hallmark (90%) HP:0000400
22 behavioral abnormality 32 HP:0000708
23 global developmental delay 32 hallmark (90%) HP:0001263
24 depressed nasal bridge 32 HP:0005280
25 delayed speech and language development 32 HP:0000750
26 joint stiffness 32 frequent (33%) HP:0001387
27 umbilical hernia 32 HP:0001537
28 broad thumb 32 frequent (33%) HP:0011304
29 hypertonia 32 HP:0001276
30 feeding difficulties in infancy 32 frequent (33%) HP:0008872
31 long philtrum 32 hallmark (90%) HP:0000343
32 micrognathia 32 hallmark (90%) HP:0000347
33 abnormality of the metaphysis 32 hallmark (90%) HP:0000944
34 retrognathia 32 hallmark (90%) HP:0000278
35 strabismus 32 HP:0000486
36 coxa valga 32 HP:0002673
37 joint hyperflexibility 32 occasional (7.5%) HP:0005692
38 epicanthus 32 HP:0000286
39 slurred speech 32 HP:0001350
40 cryptorchidism 32 occasional (7.5%) HP:0000028
41 metatarsus adductus 32 HP:0001840
42 hypoplastic toenails 32 hallmark (90%) HP:0001800
43 abnormality of the fingernails 32 hallmark (90%) HP:0001231
44 inverted nipples 32 HP:0003186
45 pes cavus 32 occasional (7.5%) HP:0001761
46 broad forehead 32 hallmark (90%) HP:0000337
47 hypoplastic iliac wing 32 HP:0002866
48 low-set, posteriorly rotated ears 32 hallmark (90%) HP:0000368
49 downslanted palpebral fissures 32 occasional (7.5%) HP:0000494
50 sandal gap 32 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:

26
# 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 PNPLA8 SUZ12 CUL1 EED NSD1

MGI Mouse Phenotypes related to Weaver Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.26 SUZ12 CUL1 EZH2 NSD1
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 158)
# 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,Not Applicable 2216-51-5 16666
5
Chlorhexidine Approved, Vet_approved Phase 4 55-56-1 9552079 2713
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
Acamprosate Approved, Investigational Phase 4 77337-76-9 71158
10 Antimetabolites Phase 4,Phase 3,Phase 1
11 Neurotransmitter Agents Phase 4,Phase 1,Not Applicable
12 Anti-Anxiety Agents Phase 4
13 Anticonvulsants Phase 4
14 Antiemetics Phase 4
15 Anti-Infective Agents Phase 4,Phase 3
16 Anti-Infective Agents, Local Phase 4
17 Autonomic Agents Phase 4,Phase 1,Not Applicable
18 Central Nervous System Depressants Phase 4,Not Applicable
19 GABA Agents Phase 4
20 GABA Modulators Phase 4
21 Gastrointestinal Agents Phase 4,Not Applicable
22 Hypnotics and Sedatives Phase 4
23 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 1,Not Applicable
24 Psychotropic Drugs Phase 4
25 Tranquilizing Agents Phase 4
26 Antidepressive Agents Phase 4
27 Antidepressive Agents, Second-Generation Phase 4
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 Plasma Substitutes Phase 4
36 Tryptophan Nutraceutical Phase 4
37
Levodopa Approved Phase 3 59-92-7 6047
38
Thrombin Approved, Investigational Phase 3
39
Capecitabine Approved, Investigational Phase 3 154361-50-9 60953
40
Gemcitabine Approved Phase 3 95058-81-4 60750
41
Vinorelbine Approved, Investigational Phase 3 71486-22-1 60780 44424639
42
Treprostinil Approved, Investigational Phase 2, Phase 3 81846-19-7 54786 6918140
43
Dalteparin Approved Phase 3 9005-49-6
44
Heparin Approved, Investigational Phase 3 9005-49-6 772 46507594
45
Tinzaparin Approved Phase 3 9005-49-6, 9041-08-1 25244225
46
Cisplatin Approved Phase 3 15663-27-1 84093 441203 2767
47
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
48
Enoxaparin Approved Phase 3 9005-49-6 772
49
Camptothecin Experimental Phase 3,Phase 1 7689-03-4
50 Antineoplastic Agents, Phytogenic Phase 3,Phase 1

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 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 PREVENTion of Clot in Orthopaedic Trauma Recruiting NCT02984384 Phase 3 Acetylsalicylic acid;Low Molecular Weight Heparin (LMWH)
14 Rheos HOPE4HF (Health Outcomes Prospective Evaluation for Heart Failure With Ejection Fraction (EF) ≥ 40%) Trial Active, not recruiting NCT00957073 Phase 2, Phase 3
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 Fructooligosaccharide and Calcium Absorption in Adolescent Girls Completed NCT01005927 Phase 1, Phase 2
19 Hyperbaric Oxygen Therapy in Chronic Stable Brain Injury Completed NCT00830453 Phase 2
20 Girls In Recovery From Life Stress (GIRLS) Study Completed NCT00751946 Phase 2
21 A Pilot Study of GWP42003 in the Symptomatic Treatment of Ulcerative Colitis (GWID10160) Completed NCT01562314 Phase 2 GWP42003;Placebo
22 Hyperbaric Oxygen for Civilian Post-concussive Syndrome Recruiting NCT01986205 Phase 2
23 PROCLAIM-CX-2029: A Trial to Find Safe and Active Doses of an Investigational Drug CX-2029 for Patients With Solid Tumors or DLBCL Recruiting NCT03543813 Phase 1, Phase 2 CX-2029
24 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
25 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
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 Not yet recruiting NCT03394846 Phase 1
34 Radiostereometric Analysis of Fracture Healing in Distal Femur Fractures Unknown status NCT01593176
35 Training Executive Functions to Facilitate Recovery Following Traumatic Brain Injury Completed NCT01993407 Not Applicable
36 Integrated Infectious Disease Capacity-Building Evaluation Completed NCT01190540 Not Applicable
37 Calcium, Dairy, and Body Fat in Adolescents Completed NCT00592137 Not Applicable
38 Continuous Positive Airway Pressure to Improve Milder Obstructive Sleep Apnea Completed NCT00089752 Not Applicable
39 Preparatory Work to Assess Adherence to Oral Chemotherapy Completed NCT02895542
40 The Good Patient Study Completed NCT02199548
41 mTBI Mechanisms of Action of HBO2 for Persistent Post-Concussive Symptoms Completed NCT01611194 Not Applicable Hyperbaric oxygen (HBO2) at 1.5 atms;Sham control 1.2 atms
42 Galactooligosaccharide (GOS) Supplementation and Calcium Absorption in Girls Completed NCT01263847 Early Phase 1
43 Soluble Corn Fiber Effect on Bone Resorption in Post Menopausal Women Completed NCT02416947 Not Applicable
44 Feasibility of Delivering a Quitline Based Smoking Cessation Intervention in Cancer Patients Completed NCT01434342 Not Applicable Nicotine Replacement Patch
45 Effect of Calcium Supplement Particle Size and Vitamin D Supplement on Calcium Retention in Adolescent Girls Completed NCT01005381 Not Applicable
46 Prospective, Non-Randomized Evaluation of Carbon Dioxide Gas as a Contrast Agent in Comparison With Iodinated Contrast in Endovascular Aneurysm Repair Completed NCT00520416
47 The Effect of Dairy on Bone Mass and Body Composition in 4th-8th Grade Boys and Girls Completed NCT00635583 Not Applicable
48 Test of Chamber Pressure to Divers and Chamber Attendants Completed NCT01430325 Not Applicable Hyperbaric Oxygen (1.5 atm abs);Sham Chamber Session
49 Comprehensive Support for Alzheimer's Disease Caregivers Completed NCT00362284 Not Applicable
50 Calcium Metabolism in Mexican American Adolescents Completed NCT01277185 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 29 EZH2

Anatomical Context for Weaver Syndrome

MalaCards organs/tissues related to Weaver Syndrome:

41
Bone, Skin, Brain, Eye, Heart, Liver, Prostate

Publications for Weaver Syndrome

Articles related to Weaver Syndrome:

(show top 50) (show all 57)
# 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
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
3
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
4
Novel EED mutation in patient with Weaver syndrome. ( 27868325 )
2017
5
Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome. ( 28229514 )
2017
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
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
9
Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro. ( 26694085 )
2016
10
Oral, radiographical, and clinical findings in Weaver syndrome: a case report. ( 26084782 )
2015
11
Fine mapping for Weaver syndrome in Brown Swiss cattle and the identification of 41 concordant mutations across NRCAM, PNPLA8 and CTTNBP2. ( 23527149 )
2013
12
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype. ( 24214728 )
2013
13
Weaver syndrome and defective cortical development: a rare association. ( 23239504 )
2013
14
A patient with the Weaver syndrome in Puerto Rico: a case report. ( 22788078 )
2012
15
Mutations in EZH2 cause Weaver syndrome. ( 22177091 )
2012
16
Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height. ( 22190405 )
2011
17
Weaver syndrome associated with bilateral congenital hip and unilateral subtalar dislocation. ( 20981173 )
2010
18
Acute lymphoblastic leukemia in Weaver syndrome. ( 20101679 )
2010
19
Weaver syndrome: A report of a rare genetic syndrome. ( 20407649 )
2009
20
Weaver syndrome and neuroblastoma. ( 19011474 )
2008
21
Treatment of macroglossia in a child with Weaver syndrome. ( 18595662 )
2008
22
The upper airway in Weaver syndrome. ( 16176320 )
2005
23
Hormonal and genetical assessment of a Japanese girl with weaver syndrome. ( 24790293 )
2004
24
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
25
Spectrum of NSD1 mutations in Sotos and Weaver syndromes. ( 12807965 )
2003
26
The difficulty of height prediction in Weaver syndrome. ( 11826875 )
2002
27
Weaver syndrome with neuroblastoma and cardiovascular anomalies. ( 11241499 )
2001
28
Excessive growth in a girl with Weaver syndrome. ( 11085195 )
2000
29
Cervical spine anomalies and tumors in Weaver syndrome. ( 11146472 )
2000
30
A case with Weaver syndrome operated for congenital cardiac defect. ( 10441697 )
1999
31
A probable case of familial Weaver syndrome associated with neoplasia. ( 10507738 )
1999
32
Pachygyria in Weaver syndrome. ( 10494098 )
1999
33
Familial neurofibromatosis type 1 associated with an overgrowth syndrome resembling Weaver syndrome. ( 9598729 )
1998
34
Weaver syndrome: autosomal dominant inheritance of the disorder. ( 9781912 )
1998
35
Autosomal dominant inheritance of Weaver syndrome. ( 9152841 )
1997
36
Propositus with Weaver syndrome and his mildly-affected mother: implication of nontraditional inheritance? ( 9240753 )
1996
37
Twins and their mildly affected mother with Weaver syndrome. ( 8131308 )
1993
38
Weaver syndrome. ( 1583661 )
1992
39
Weaver syndrome in two Japanese children. ( 1785638 )
1991
40
Weaver syndrome: a case without early overgrowth and review of the literature. ( 1956726 )
1991
41
A Japanese male infant with the Weaver syndrome. ( 2266602 )
1990
42
Ultrastructural changes in Brown Swiss cattle affected with bovine progressive degenerative myeloencephalopathy (Weaver syndrome). ( 2127493 )
1990
43
Weaver syndrome and instability of the upper cervical spine. ( 2319408 )
1990
44
Weaver syndrome: the changing phenotype in an adult. ( 2750780 )
1989
45
A new autosomal recessive disorder resembling Weaver syndrome. ( 2596508 )
1989
46
A case of Marshall-Smith or Weaver syndrome. ( 2593121 )
1989
47
Retarded skeletal maturation in Weaver syndrome. ( 3207030 )
1988
48
Bovine progressive degenerative myeloencephalopathy (weaver syndrome) in brown swiss cattle in Canada: a literature review and case report. ( 17423028 )
1988
49
A girl with the Weaver syndrome. ( 3585940 )
1987
50
Further delineation of Weaver syndrome. ( 2418189 )
1986

Variations for Weaver Syndrome

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

75 (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 313)
# 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.339C> T (p.Cys113=) single nucleotide variant Benign/Likely benign rs77093936 GRCh37 Chromosome 5, 176562443: 176562443
11 NSD1 NM_022455.4(NSD1): c.339C> T (p.Cys113=) single nucleotide variant Benign/Likely benign rs77093936 GRCh38 Chromosome 5, 177135442: 177135442
12 NSD1 NM_022455.4(NSD1): c.1558G> A (p.Ala520Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs559617787 GRCh37 Chromosome 5, 176636958: 176636958
13 NSD1 NM_022455.4(NSD1): c.1558G> A (p.Ala520Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs559617787 GRCh38 Chromosome 5, 177209957: 177209957
14 NSD1 NM_022455.4(NSD1): c.2071G> A (p.Ala691Thr) single nucleotide variant Benign/Likely benign rs28932177 GRCh37 Chromosome 5, 176637471: 176637471
15 NSD1 NM_022455.4(NSD1): c.2071G> A (p.Ala691Thr) single nucleotide variant Benign/Likely benign rs28932177 GRCh38 Chromosome 5, 177210470: 177210470
16 NSD1 NM_022455.4(NSD1): c.2696T> C (p.Ile899Thr) single nucleotide variant Likely benign rs142703625 GRCh37 Chromosome 5, 176638096: 176638096
17 NSD1 NM_022455.4(NSD1): c.2696T> C (p.Ile899Thr) single nucleotide variant Likely benign rs142703625 GRCh38 Chromosome 5, 177211095: 177211095
18 NSD1 NM_022455.4(NSD1): c.3106G> C (p.Ala1036Pro) single nucleotide variant Benign/Likely benign rs28932179 GRCh37 Chromosome 5, 176638506: 176638506
19 NSD1 NM_022455.4(NSD1): c.3106G> C (p.Ala1036Pro) single nucleotide variant Benign/Likely benign rs28932179 GRCh38 Chromosome 5, 177211505: 177211505
20 NSD1 NM_022455.4(NSD1): c.3564G> C (p.Arg1188Ser) single nucleotide variant Benign/Likely benign rs199814669 GRCh37 Chromosome 5, 176638964: 176638964
21 NSD1 NM_022455.4(NSD1): c.3564G> C (p.Arg1188Ser) single nucleotide variant Benign/Likely benign rs199814669 GRCh38 Chromosome 5, 177211963: 177211963
22 NSD1 NM_022455.4(NSD1): c.3722G> C (p.Ser1241Thr) single nucleotide variant Likely benign rs138641637 GRCh37 Chromosome 5, 176639122: 176639122
23 NSD1 NM_022455.4(NSD1): c.3722G> C (p.Ser1241Thr) single nucleotide variant Likely benign rs138641637 GRCh38 Chromosome 5, 177212121: 177212121
24 NSD1 NM_022455.4(NSD1): c.3803G> A (p.Arg1268Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs368706736 GRCh37 Chromosome 5, 176662828: 176662828
25 NSD1 NM_022455.4(NSD1): c.3803G> A (p.Arg1268Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs368706736 GRCh38 Chromosome 5, 177235827: 177235827
26 NSD1 NM_022455.4(NSD1): c.4564G> A (p.Asp1522Asn) single nucleotide variant Benign/Likely benign rs201483724 GRCh37 Chromosome 5, 176675248: 176675248
27 NSD1 NM_022455.4(NSD1): c.4564G> A (p.Asp1522Asn) single nucleotide variant Benign/Likely benign rs201483724 GRCh38 Chromosome 5, 177248247: 177248247
28 NSD1 NM_022455.4(NSD1): c.4605C> T (p.Arg1535=) single nucleotide variant Conflicting interpretations of pathogenicity rs140229717 GRCh37 Chromosome 5, 176675289: 176675289
29 NSD1 NM_022455.4(NSD1): c.4605C> T (p.Arg1535=) single nucleotide variant Conflicting interpretations of pathogenicity rs140229717 GRCh38 Chromosome 5, 177248288: 177248288
30 NSD1 NM_022455.4(NSD1): c.7908C> T (p.Leu2636=) single nucleotide variant Benign/Likely benign rs143159630 GRCh37 Chromosome 5, 176722277: 176722277
31 NSD1 NM_022455.4(NSD1): c.7908C> T (p.Leu2636=) single nucleotide variant Benign/Likely benign rs143159630 GRCh38 Chromosome 5, 177295276: 177295276
32 EZH2 NM_004456.4(EZH2): c.2236A> G (p.Arg746Gly) single nucleotide variant Likely pathogenic rs587783627 GRCh37 Chromosome 7, 148504758: 148504758
33 EZH2 NM_004456.4(EZH2): c.2236A> G (p.Arg746Gly) single nucleotide variant Likely pathogenic rs587783627 GRCh38 Chromosome 7, 148807666: 148807666
34 EZH2 NM_004456.4(EZH2): c.2050C> T (p.Arg684Cys) single nucleotide variant Pathogenic rs587783626 GRCh37 Chromosome 7, 148506462: 148506462
35 EZH2 NM_004456.4(EZH2): c.2050C> T (p.Arg684Cys) single nucleotide variant Pathogenic rs587783626 GRCh38 Chromosome 7, 148809370: 148809370
36 EZH2 NM_004456.4(EZH2): c.2028T> C (p.Asn676=) single nucleotide variant Benign/Likely benign rs115842196 GRCh37 Chromosome 7, 148507426: 148507426
37 EZH2 NM_004456.4(EZH2): c.2028T> C (p.Asn676=) single nucleotide variant Benign/Likely benign rs115842196 GRCh38 Chromosome 7, 148810334: 148810334
38 EZH2 NM_004456.4(EZH2): c.1884C> G (p.Gly628=) single nucleotide variant Uncertain significance rs61732846 GRCh37 Chromosome 7, 148508780: 148508780
39 EZH2 NM_004456.4(EZH2): c.1884C> G (p.Gly628=) single nucleotide variant Uncertain significance rs61732846 GRCh38 Chromosome 7, 148811688: 148811688
40 EZH2 NM_004456.4(EZH2): c.1876G> A (p.Val626Met) single nucleotide variant Pathogenic rs587783625 GRCh37 Chromosome 7, 148508788: 148508788
41 EZH2 NM_004456.4(EZH2): c.1876G> A (p.Val626Met) single nucleotide variant Pathogenic rs587783625 GRCh38 Chromosome 7, 148811696: 148811696
42 EZH2 NM_004456.4(EZH2): c.1852-6C> T single nucleotide variant Benign/Likely benign rs78589034 GRCh37 Chromosome 7, 148508818: 148508818
43 EZH2 NM_004456.4(EZH2): c.1852-6C> T single nucleotide variant Benign/Likely benign rs78589034 GRCh38 Chromosome 7, 148811726: 148811726
44 EZH2 NM_004456.4(EZH2): c.1731G> A (p.Pro577=) single nucleotide variant Benign/Likely benign rs41277437 GRCh37 Chromosome 7, 148511171: 148511171
45 EZH2 NM_004456.4(EZH2): c.1731G> A (p.Pro577=) single nucleotide variant Benign/Likely benign rs41277437 GRCh38 Chromosome 7, 148814079: 148814079
46 EZH2 NM_004456.4(EZH2): c.1017T> C (p.Phe339=) single nucleotide variant Benign rs77051363 GRCh37 Chromosome 7, 148515192: 148515192
47 EZH2 NM_004456.4(EZH2): c.1017T> C (p.Phe339=) single nucleotide variant Benign rs77051363 GRCh38 Chromosome 7, 148818100: 148818100
48 NSD1 NM_022455.4(NSD1): c.4642-7T> C single nucleotide variant Likely benign rs183928380 GRCh37 Chromosome 5, 176678724: 176678724
49 NSD1 NM_022455.4(NSD1): c.4642-7T> C single nucleotide variant Likely benign rs183928380 GRCh38 Chromosome 5, 177251723: 177251723
50 NSD1 NM_022455.4(NSD1): c.3394G> A (p.Gly1132Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs570278983 GRCh37 Chromosome 5, 176638794: 176638794

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:

37
# 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 chromatin binding GO:0003682 9.56 EED EZH2 NSD1 SUZ12
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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