PedAM

Pediatric Disease Annotations & Medicines


	weaver syndrome

Disease ID	201
Disease	weaver syndrome
Definition	A rare syndrome caused by mutations in the EZH2 gene, and rarely mutations in the NSD1 gene. It is characterized by advanced bone age, foot deformities, permanently bent joints, macrocephaly, flattened back of the head, a broad forehead, hypertelorism, large, low-set ears, micrognathia, delayed development of motor skills, and mild intellectual disability.
Synonym	syndrome weaver syndrome weavers weaver smith syndrome weaver syndrome (disorder) weaver's syndrome weaver-smith syndrome wss wvs
Orphanet	ORPHANET:3447
OMIM	OMIM:277590 OMIM:278250
DOID	DOID:14731
UMLS	C0265210
SNOMED-CT	SNOMEDCT_US_2016_09_01:63119004
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:3) C0023448 \| lymphoblastic leukemia \| 1 C0023418 \| leukemia \| 1 C0023449 \| acute lymphoblastic leukemia \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) EZH2 \| 2146 \| CLINVAR;UNIPROT;ORPHANET;GHR NSD1 \| 64324 \| CTD_human;ORPHANET;GHR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:22) 83992 \| CTTNBP2 \| DISEASES 9927 \| MFN2 \| DISEASES 7389 \| UROD \| DISEASES 50640 \| PNPLA8 \| DISEASES 6496 \| SIX3 \| DISEASES 2033 \| EP300 \| DISEASES 8726 \| EED \| DISEASES 2588 \| GALNS \| DISEASES 152185 \| SPICE1 \| DISEASES 4928 \| NUP98 \| DISEASES 23512 \| SUZ12 \| DISEASES 2146 \| EZH2 \| DISEASES 8454 \| CUL1 \| DISEASES 617 \| BCS1L \| DISEASES 1301 \| COL11A1 \| DISEASES 171023 \| ASXL1 \| DISEASES 4897 \| NRCAM \| DISEASES 2719 \| GPC3 \| DISEASES 29072 \| SETD2 \| DISEASES 1029 \| CDKN2A \| DISEASES 64324 \| NSD1 \| DISEASES 2145 \| EZH1 \| DISEASES
Locus	Symbol \| Locus(Total Locus:2) NSD1 \| 5q35.3 EZH2 \| 7q36.1

Disease ID	201
Disease	weaver syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:91) HP:0000343 \| Long philtrum HP:0002808 \| Gibbus deformity HP:0001350 \| Slurred speech HP:0002834 \| Flared metaphysis of thigh bone HP:0000347 \| Micrognathia HP:0001249 \| Mental retardation HP:0011304 \| Broad thumb HP:0001762 \| Talipes equinovarus HP:0001761 \| Pes cavus HP:0001816 \| Thin nail HP:0000278 \| Retrognathia HP:0001257 \| Spasticity HP:0009473 \| Joint contracture of the hand HP:0030084 \| Clinodactyly HP:0002213 \| Fine hair HP:0000708 \| Behavioral problems HP:0010300 \| Abnormally low-pitched voice HP:0000400 \| Macrotia HP:0008736 \| Hypoplasia of penis HP:0200000 \| Dysharmonic skeletal maturation HP:0000400 \| Large ears HP:0002650 \| Scoliosis HP:0001540 \| Diastasis recti HP:0000303 \| Increased size of lower jaw HP:0001331 \| Agenesis of the septum pellucidum HP:0001249 \| Intellectual disability HP:0002866 \| Hypoplastic iliac alae HP:0001231 \| Abnormality of the fingernails HP:0000098 \| Tall stature HP:0001263 \| Global developmental delay HP:0001377 \| Restricted elbow extension HP:0100490 \| Camptodactyly of finger HP:0000316 \| Increased distance between eye sockets HP:0005616 \| Early bone maturation HP:0001252 \| Hypotonia HP:0002673 \| Coxa valga HP:0000343 \| Vertical hyperplasia of philtrum HP:0000773 \| Rib hypoplasia HP:0011304 \| Wide/broad thumb HP:0000256 \| Macrocephaly HP:0000028 \| Cryptorchidism HP:0001609 \| Hoarse voice HP:0001840 \| Forefoot varus HP:0000494 \| Downslanted palpebral fissures HP:0000337 \| Broad forehead HP:0008070 \| Thinned hair HP:0001260 \| Dysarthric speech HP:0002002 \| Deep philtrum HP:0001176 \| large hand HP:0000973 \| Dermatomegaly HP:0006101 \| Finger syndactyly HP:0005692 \| Joint hyperflexibility HP:0000034 \| Testicular hydrocele HP:0001276 \| Hypertonia HP:0000311 \| Round face HP:0012385 \| Camptodactyly HP:0001852 \| Sandal gap HP:0000750 \| Late-onset speech development HP:0001800 \| Hypoplastic toenails HP:0006956 \| Lateral ventricle dilatation HP:0001212 \| Prominent finger pads HP:0009466 \| Radially deviated phalanges HP:0003186 \| Invaginated nipples HP:0005616 \| Accelerated skeletal maturation HP:0000944 \| Abnormality of the metaphyses HP:0000486 \| Squint eyes HP:0001845 \| Overriding toes HP:0000256 \| Macrocrania HP:0000286 \| Palpebronasal fold HP:0005280 \| Flat, nasal bridge HP:0001263 \| Developmental retardation HP:0001176 \| Large hands HP:0001250 \| Seizures HP:0001814 \| Deep-set nails HP:0000278 \| Receding lower jaw HP:0000494 \| Downward slanting palpebral fissures HP:0000316 \| Hypertelorism HP:0001582 \| Redundant skin HP:0002564 \| Malformation of the heart and great vessels HP:0003911 \| Flared wide portion of long bone of upper arm HP:0000023 \| Inguinal hernia HP:0010751 \| Gelasin of chin HP:0003066 \| Limited knee extension HP:0000368 \| Low-set, posteriorly rotated ears HP:0004689 \| Short 4th long bone of foot HP:0001769 \| Broad foot HP:0000311 \| Round facial shape HP:0008872 \| Feeding difficulties in infancy HP:0001387 \| Joint stiffness HP:0001848 \| Calcaneovalgus Foot HP:0001537 \| Umbilical hernias
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:3) HP:0001374 \| Congenital hip dislocation \| 1 HP:0001909 \| Leukemia \| 1 HP:0006721 \| Acute lymphocytic leukemia \| 1

Disease ID	201
Disease	weaver syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:2) C1961102 \| acute lymphoblastic leukemia C0266483 \| pachygyria
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0023449 \| acute lymphoblastic leukemia \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:9)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs193921147	NA	2146	EZH2	umls:C0265210	CLINVAR	NA	0.361085767	NA	EZH2;LOC105375558	7	148809340	G	A
rs193921148	NA	2146	EZH2	umls:C0265210	CLINVAR	NA	0.361085767	NA	EZH2	7	148829818	G	A
rs397515547	NA	2146	EZH2	umls:C0265210	CLINVAR	NA	0.361085767	NA	EZH2;LOC105375558	7	148809376	C	T
rs397515548	NA	2146	EZH2	umls:C0265210	CLINVAR	NA	0.361085767	NA	EZH2;LOC105375558	7	148807669	C	T
rs587783625	NA	2146	EZH2	umls:C0265210	CLINVAR	NA	0.361085767	NA	EZH2;LOC105375558	7	148811696	C	T
rs587783626	NA	2146	EZH2	umls:C0265210	CLINVAR	NA	0.361085767	NA	EZH2;LOC105375558	7	148809370	G	A
rs587783627	NA	2146	EZH2	umls:C0265210	CLINVAR	NA	0.361085767	NA	EZH2;LOC105375558	7	148807666	T	C
rs797044844	NA	2146	EZH2	umls:C0265210	CLINVAR	NA	0.361085767	NA	EZH2	7	148829754	T	C
rs797045568	NA	2146	EZH2	umls:C0265210	CLINVAR	NA	0.361085767	NA	EZH2;LOC105375558	7	148809078	-	A

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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