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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: Congenital Hypothyroidism (D003409)
Parent Node: Craniofacial Abnormalities (D019465)
Parent Node: Hand Deformities, Congenital (D006228)
..Starting node ..Weaver syndrome (C536687)
Child Nodes:
Sister Nodes:
..Aarskog Syndrome (C535331) 1
..Acheiropodia (C536014)
..Acrofacial dysostosis Rodriguez type (C538183)
..Acrofacial dysostosis, Palagonia type (C538185)
..Acrootoocular Syndrome (C564866)
..Acrorenal Syndrome (C563159)
..Adactylia, Unilateral (C562417)
..Anonychia-Ectrodactyly (C566277)
..Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges (C537766)
..Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal IV (C563942)
..Aplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy (C565945)
..Banki Syndrome (C566228)
..BRACHYDACTYLY, TYPE E1 (OMIM:113300)
..BRACHYDACTYLY, TYPE E2 (OMIM:613382)
..Camptodactyly 1 (C567780)
..Camptodactyly joint contractures and facial skeletal dysplasia (C537969)
..Camptodactyly syndrome Guadalajara type 1 (C537970)
..Camptodactyly syndrome Guadalajara type 2 (C537971)
..Camptodactyly taurinuria (C537972)
..Camptodactyly vertebral fusion (C537973)
..Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia (C537974)
..Camptodactyly-ichthyosis syndrome (C537976)
..Camptosynpolydactyly, Complex (C564383)
..Carnevale Hernandez Castillo syndrome (C535585)
..Catel Manzke syndrome (C535347)
..CATSHL syndrome (C537975)
..Chitayat Meunier Hodgkinson syndrome (C535926)
..Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly (C563936)
..Coffin-Siris syndrome (C536436)
..Cranioacrofacial Syndrome (C565147)
..Craniosynostosis, Adelaide Type (C563471)
..Crisponi syndrome (C536214)
..Daneman Davy Mancer syndrome (C535986)
..Deafness, congenital onychodystrophy, recessive form (C538204)
..Digitorenocerebral Syndrome (C563052)
..Digitotalar Dysmorphism (C565097)
..Dwarfism stiff joint ocular abnormalities (C535724)
..Dystelephalangy (C538000)
..Ectodermal dysplasia, ectrodactyly, and macular dystrophy (C536190)
..Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate (C565065)
..Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 (C565062)
..Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3 (C565799)
..Ectrodactyly-Cleft Palate Syndrome (C565064)
..Eiken Skeletal Dysplasia (C564010)
..Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly (C566524)
..Fairbank disease (C536393)
..Femur bifid with monodactylous ectrodactyly (C537917)
..Fibromatosis, Gingival, with Hypertrichosis and Mental Retardation (C565331)
..Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome (C565436)
..Frints De Smet Fabry Fryns syndrome (C538062)
..Frontootopalatodigital Osteodysplasia (C567578)
..Fuhrmann syndrome (C538189)
..Goodman camptodactyly (C537287)
..Gordon syndrome (C537288)
..Growth mental deficiency syndrome of Myhre (C537620)
..Growth Retardation, Small and Puffy Hands and Feet, and Eczema (C565528)
..Hairy palms and soles (C535620)
..Hand foot uterus syndrome (C535627)
..Heart-hand syndrome, Slovenian type (C535852)
..Hecht Scott syndrome (C535856)
..Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate (C564484)
..Hydrolethalus syndrome (C536079)
..Jacobs syndrome (C537560)
..Johnson Munson syndrome (C535881)
..Keutel syndrome (C536167)
..Laurin-Sandrow syndrome (C535689)
..Leri pleonosteosis (C537118)
..Macrodactyly of the hand (C537720)
..MAMMARY-DIGITAL-NAIL SYNDROME (OMIM:613689)
..Metacarpal 4 5 Fusion (C564100)
..Metaphyseal acroscyphodysplasia (C537350)
..Michels Caskey syndrome (C537576)
..Microcephaly with Mental Retardation and Digital Anomalies (C567101)
..Mononen Karnes Senac syndrome (C535914)
..Morillo-Cucci Passarge syndrome (C536983)
..Muller Barth Menger syndrome (C537370)
..Neurofaciodigitorenal syndrome (C537388)
..NOG-Related-Symphalangism Spectrum Disorder (C536943)
..Oculootoradial syndrome (C535544)
..Odontotrichoungual-Digital-Palmar Syndrome (C566598)
..Oroacral Syndrome, Verloes-Koulischer Type (C566374)
..Oslam syndrome (C537138)
..Oto-Palato-digital syndrome type 1 (C536065)
..Oto-palato-digital syndrome, type 2 (C538089)
..Otopalatodigital Spectrum Disorder (C567577)
..Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies (C565782)
..Pfeiffer Tietze Welte syndrome (C537891)
..Polydactyly, Postaxial, with Dental and Vertebral Anomalies (C564880)
..Progeroid Facial Appearance with Hand Anomalies (C566563)
..Pseudotrisomy 13 syndrome (C535829)
..Pterygium colli mental retardation digital anomalies (C535831)
..Radio-ulnar synostosis type 1 (C536268)
..Radio-ulnar synostosis type 2 (C536269)
..Rhizomelic dysplasia Patterson Lowry type (C537609)
..Richieri Costa Guion-Almeida syndrome (C535676)
..Richieri Costa Pereira syndrome (C535677)
..Rozin Hertz Goodman syndrome (C535876)
..Saal Bulas syndrome (C537193)
..Sanderson Fraser syndrome (C537232)
..Say Field Coldwell syndrome (C536619)
..Schinzel-Giedion syndrome (C536632)
..Second Metatarsal-Metacarpal Syndrome (C564824)
..Split hand split foot nystagmus (C537319)
..Split-Hand/Foot Malformation With Sensorineural Hearing Loss (C565647)
..Spondylocamptodactyly (C535779)
..Stoll Alembik Dott syndrome (C537497)
..Symphalangism with Multiple Anomalies of Hands and Feet (C566098)
..Symphalangism, C. S. Lewis Type (C566100)
..Symphalangism, Distal (C566099) 1
..Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly (C566090)
..Synpolydactyly 2 (C564278)
..Tabatznik syndrome (C536784)
..Teebi Kaurah syndrome (C536948)
..Teebi syndrome (C536951)
..Tel Hashomer camptodactyly syndrome (C536953)
..Tendons, Extensor, of Fingers, Anomalous Insertion of (C566068)
..TERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
..Tollner Horst Manzke syndrome (C536964)
..Trichorhinophalangeal Syndrome, Type III (C566033)
..Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet (C564759)
..Triphalangeal Thumb (C573898)
..Triphalangeal thumb non opposable (C536562)
..Triphalangeal Thumb with Double Phalanges (C566028)
..Tukel syndrome (C536925)
..Van Maldergem Wetzburger Verloes syndrome (C536530)
..Ventricular extrasystoles perodactyly Robin sequence (C536537)
..Vohwinkel syndrome (C536457)
..Walbaum Titran Durieux Crepin syndrome (C536566)
..Weaver syndrome (C536687)
..Weaver-Like Syndrome (C562443)
..Weyers ulnar ray/oligodactyly syndrome (C536696)
..Zimmerman Laband syndrome (C536725)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11715

Name:

Weaver syndrome

Definition:

Alternative IDs:

OMIM:277590

ParentIDs:

MESH:D000015|MESH:D003409|MESH:D006228|MESH:D019465

TreeNumbers:

C05.116.099.343.347/C536687 |C05.116.132.256/C536687 |C05.390.408/C536687 |C05.660.207/C536687 |C05.660.585.988.425/C536687 |C16.131.077/C536687 |C16.131.621.207/C536687 |C16.131.621.585.425/C536687 |C16.320.240.625/C536687 |C19.297.155/C536687 |C19.874.482.281/C5

Synonyms:

Weaver Smith syndrome |Weaver-Smith Syndrome |WEAVER-SMITH SYNDROME;WSS WEAVER-LIKE SYNDROME, INCLUDED |WVS

Slim Mappings:

Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease

Reference:

MedGen: C536687
MeSH: C536687
OMIM: 277590;

Genes: EZH2;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0010300	Abnormally low-pitched voice
3	HP:0001331	Absent septum pellucidum
4	HP:0005616	Accelerated skeletal maturation
5	HP:0000708	Behavioral abnormality
6	HP:0011304	Broad thumb
7	HP:0001848	Calcaneovalgus deformity
8	HP:0012385	Camptodactyly
9	HP:0030084	Clinodactyly
10	HP:0002673	Coxa valga
11	HP:0000028	Cryptorchidism
12	HP:0000973	Cutis laxa
13	HP:0001814	Deep-set nails
14	HP:0000750	Delayed speech and language development
15	HP:0005280	Depressed nasal bridge
16	HP:0001540	Diastasis recti
17	HP:0006956	Dilation of lateral ventricles
18	HP:0010751	Dimple chin
19	HP:0000494	Downslanted palpebral fissures
20	HP:0001260	Dysarthria
21	HP:0200000	Dysharmonic bone age
22	HP:0000286	Epicanthus
23	HP:0002213	Fine hair
24	HP:0002834	Flared femoral metaphysis
25	HP:0003911	Flared humeral metaphysis
26	HP:0001290	Generalized hypotonia
27	HP:0001263	Global developmental delay
28	HP:0000034	Hydrocele testis
29	HP:0000316	Hypertelorism
30	HP:0001276	Hypertonia
31	HP:0002866	Hypoplastic iliac wing
32	HP:0001252	Hypotonia
33	HP:0000023	Inguinal hernia
34	HP:0001249	Intellectual disability
35	HP:0003186	Inverted nipples
36	HP:0009473	Joint contracture of the hand
37	HP:0002808	Kyphosis
38	HP:0001176	Large hands
39	HP:0001377	Limited elbow extension
40	HP:0003066	Limited knee extension
41	HP:0000343	Long philtrum
42	HP:0000256	Macrocephaly
43	HP:0000400	Macrotia
44	HP:0000303	Mandibular prognathia
45	HP:0001840	Metatarsus adductus
46	HP:0001845	Overlapping toe
47	HP:0001761	Pes cavus
48	HP:0001212	Prominent fingertip pads
49	HP:0009466	Radial deviation of finger
50	HP:0000278	Retrognathia
51	HP:0000311	Round face
52	HP:0002650	Scoliosis
53	HP:0001250	Seizure
54	HP:0004689	Short fourth metatarsal
55	HP:0000773	Short ribs
56	HP:0001350	Slurred speech
57	HP:0008070	Sparse hair
58	HP:0001257	Spasticity
59	HP:0000486	Strabismus
60	HP:0001762	Talipes equinovarus
61	HP:0001816	Thin nail
62	HP:0001537	Umbilical hernia

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_004456.4(EZH2):c.2236A>G (p.Arg746Gly)	2146	EZH2	Likely pathogenic	587783627	RCV000145978;	N	MedGen:C0265210,OMIM:277590,ORPHA:3447,SNOMED CT:63119004	7	148504758	148504758	NM_004456.4:c.2236A>G	NP_004447.2:p.Arg746Gly	NC_000007.13:g.148504758T>C	-	C0265210 277590 Weaver syndrome
NM_004456.4(EZH2):c.2233G>A (p.Glu745Lys)	2146	EZH2	Pathogenic	397515548	RCV000055901;	N	MedGen:C0265210,OMIM:277590,ORPHA:3447,SNOMED CT:63119004	7	148504761	148504761	NM_004456.4:c.2233G>A	NP_004447.2:p.Glu745Lys	NC_000007.13:g.148504761C>T	-	C0265210 277590 Weaver syndrome
NM_004456.4(EZH2):c.2187dupT (p.Asp730Terfs)	2146	EZH2	Pathogenic	797045568	RCV000192778;	N	MedGen:C0265210,OMIM:277590,ORPHA:3447,SNOMED CT:63119004	7	148506171	148506171	NM_004456.4:c.2187dupT	NP_004447.2:p.Asp730Terfs	NC_000007.13:g.148506171dupA	-	C0265210 277590 Weaver syndrome
NM_004456.4(EZH2):c.2080C>T (p.His694Tyr)	2146	EZH2	Pathogenic	193921147	RCV000023118;	N	MedGen:C0265210,OMIM:277590,ORPHA:3447,SNOMED CT:63119004	7	148506432	148506432	NM_004456.4:c.2080C>T	NP_004447.2:p.His694Tyr	NC_000007.13:g.148506432G>A	OMIM Allelic Variant:601573.0002	C0265210 277590 Weaver syndrome
NM_004456.4(EZH2):c.2050C>T (p.Arg684Cys)	2146	EZH2	Pathogenic	587783626	RCV000145975;	N	MedGen:C0265210,OMIM:277590,ORPHA:3447,SNOMED CT:63119004	7	148506462	148506462	NM_004456.4:c.2050C>T	NP_004447.2:p.Arg684Cys	NC_000007.13:g.148506462G>A	-	C0265210 277590 Weaver syndrome
NM_004456.4(EZH2):c.2044G>A (p.Ala682Thr)	2146	EZH2	Pathogenic	397515547	RCV000055900;	N	MedGen:C0265210,OMIM:277590,ORPHA:3447,SNOMED CT:63119004	7	148506468	148506468	NM_004456.4:c.2044G>A	NP_004447.2:p.Ala682Thr	NC_000007.13:g.148506468C>T	-	C0265210 277590 Weaver syndrome
NM_004456.4(EZH2):c.1884C>G (p.Gly628=)	2146	EZH2	Uncertain significance	61732846	RCV000145973;	N	MedGen:C0265210,OMIM:277590,ORPHA:3447,SNOMED CT:63119004	7	148508780	148508780	NM_004456.4:c.1884C>G	NP_004447.2:p.Gly628=	NC_000007.13:g.148508780G>C	-	C0265210 277590 Weaver syndrome
NM_004456.4(EZH2):c.1876G>A (p.Val626Met)	2146	EZH2	Pathogenic	587783625	RCV000145972;	N	MedGen:C0265210,OMIM:277590,ORPHA:3447,SNOMED CT:63119004	7	148508788	148508788	NM_004456.4:c.1876G>A	NP_004447.2:p.Val626Met	NC_000007.13:g.148508788C>T	-	C0265210 277590 Weaver syndrome
NM_004456.4(EZH2):c.458A>G (p.Tyr153Cys)	2146	EZH2	Pathogenic	797044844	RCV000193211;	N	MedGen:C0265210,OMIM:277590,ORPHA:3447,SNOMED CT:63119004	7	148526846	148526846	NM_004456.4:c.458A>G	NP_004447.2:p.Tyr153Cys	NC_000007.13:g.148526846T>C	-	C0265210 277590 Weaver syndrome
NM_004456.4(EZH2):c.394C>T (p.Pro132Ser)	2146	EZH2	Pathogenic	193921148	RCV000023119;	N	MedGen:C0265210,OMIM:277590,ORPHA:3447,SNOMED CT:63119004	7	148526910	148526910	NM_004456.4:c.394C>T	NP_004447.2:p.Pro132Ser	NC_000007.13:g.148526910G>A	OMIM Allelic Variant:601573.0003	C0265210 277590 Weaver syndrome
NM_152998.2(EZH2):c.149T>C (p.Leu50Ser)	2146	EZH2	Pathogenic	775407864	RCV000204286;	N	MedGen:C0265210,OMIM:277590,ORPHA:3447,SNOMED CT:63119004	7	148543659	148543659	NM_152998.2:c.149T>C	NP_694543.1:p.Leu50Ser	NC_000007.13:g.148543659A>G	-	C0265210 277590 Weaver syndrome