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2 OMIM references -
3 associated genes
18 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 6

1 OMIM reference -
1 associated gene
31 signs/symptoms

WAGR syndrome

Monosomy 13q14

BDNF	(UniProt - OMIM)		RB1	(UniProt - OMIM)
PAX6	(UniProt - OMIM)
WT1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PAX6	(0.75)	RB1

Citations in the biomedical literature:

WAGR syndrome		Monosomy 13q14
	Synonym(s): - Deletion 11p13 - Monosomy 11p13 - Wilms tumor - aniridia - genitourinary anomalies - intellectual deficit		Synonym(s): - Del(13)(q14) - Deletion 13q14 syndrome

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease - Rare gynecologic or obstetric disease - Rare oncologic disease - Rare renal disease - Rare urogenital disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: (no data available)

	External references: 2 OMIM references - 2 MeSH references: C538295 / D017624		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Cataract / lens opacification - Intellectual deficit / mental / psychomotor retardation / learning disability - Microcephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Ptosis - Short stature / dwarfism / nanism

WAGR syndrome		Monosomy 13q14
	Very frequent - Aniridia / iris hypoplasia Frequent - Anomalies of ear and hearing - Hypospadias / epispadias / bent penis - Nystagmus - Protruding lips - Undescended / ectopic testes / cryptorchidia / unfixed testes - Visual loss / blindness / amblyopia Occasional - Ambiguous genitalia - Generalized obesity - Glaucoma - Inguinal / inguinoscrotal / crural hernia - Scoliosis		Very frequent - Broad nose / nasal bridge - Helix thickened / sculpted - High nasal bridge - Hypertelorism - Intrauterine growth retardation - Total / partial trisomy / duplication Frequent - Abnormal dermatoglyphics - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Clinodactyly of fifth finger - Coloboma of iris - Congenital cardiac anomaly / malformation / cardiopathy - Epicanthic folds - Hypotonia - Low set ears / posteriorly rotated ears - Prominent / bat ears - Retinoblastoma - Short hand / brachydactyly - Short neck - Syndactyly of fingers / interdigital palm - Trigonocephaly Occasional - Anus / rectum anomalies - Corpus callosum / septum pellucidum total / partial agenesis - Holoprosencephaly / arhinencephaly / unique lateral ventricle - Thumb hypoplasia / aplasia / absence - Webbed neck / pterygium colli