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WAGR syndrome
2 OMIM references -
3 associated genes
100 connected diseases
18 signs/symptoms
Disease Type of connection
46,XY partial gonadal dysgenesis
Aniridia - cerebellar ataxia - intellectual deficit
Autosomal dominant keratitis
Denys-Drash syndrome
Desmoplastic small round cell tumor
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Foveal hypoplasia - presenile cataract
Frasier syndrome
Isolated aniridia
Isolated optic nerve hypoplasia
Meacham syndrome
Morning glory syndrome
Ondine syndrome
Peters anomaly
Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Isolated anophthalmia - microphthalmia
Waardenburg syndrome type 2
Colobomatous microphthalmia
Familial pancreatic carcinoma
Precursor B-cell acute lymphoblastic leukemia
Septo-optic dysplasia
Clear cell renal carcinoma
MITF-related melanoma and renal cell carcinoma predisposition syndrome
Ocular albinism with congenital sensorineural deafness
Papillary renal cell carcinoma
Tietz syndrome
Pilocytic astrocytoma
Spinocerebellar ataxia type 17
Complete androgen insensitivity syndrome
Familial hypospadias
Kennedy disease
Partial androgen insensitivity syndrome
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Giant cell glioblastoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Microphthalmia - cataract
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Alobar holoprosencephaly
Congenital hereditary facial paralysis with variable hearing loss
Familial retinoblastoma
Lobar holoprosencephaly
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Monosomy 13q14
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
Unilateral retinoblastoma
Anophthalmia / microphthalmia - esophageal atresia
Coffin-Siris syndrome
Familial rhabdoid tumor
X-linked dystonia-parkinsonism
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
17q11 microdeletion syndrome
Aneurysm - osteoarthritis syndrome
Cerebellar ataxia-deafness-narcolepsy syndrome
Dedifferentiated liposarcoma
Familial isolated hyperparathyroidism
Familial parathyroid adenoma
Familial thoracic aortic aneurysm and aortic dissection
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary hemorrhagic telangiectasia
Kallmann syndrome
Multiple endocrine neoplasia type 1
Myhre syndrome
Neurologic Waardenburg-Shah syndrome
Waardenburg-Shah syndrome
Weaver syndrome
Well-differentiated liposarcoma
Zollinger-Ellison syndrome
Familial isolated dilated cardiomyopathy
Renal coloboma syndrome
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
ADULT syndrome
Ankyloblepharon - ectodermal defects - cleft lip / palate
Bladder exstrophy
EEC syndrome
Limb-mammary syndrome
Split hand-split foot malformation
46,XX testicular disorder of sex development
Estrogen resistance syndrome
Monosomy 22q13
X-linked congenital generalized hypertrichosis
X-linked intellectual deficit with isolated growth hormone deficiency
- Deletion 11p13
- Monosomy 11p13
- Wilms tumor - aniridia - genitourinary anomalies - intellectual deficit

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 (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
External references:
2 OMIM references -
2 MeSH references: C538295 / D017624

Gene symbol UniProt reference OMIM reference
BDNF P23560113505
PAX6 P26367607108
WT1 P19544607102
Very frequent
- Aniridia / iris hypoplasia
- Intellectual deficit / mental / psychomotor retardation / learning disability

- Anomalies of ear and hearing
- Cataract / lens opacification
- Hypospadias / epispadias / bent penis
- Microcephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Nystagmus
- Protruding lips
- Ptosis
- Short stature / dwarfism / nanism
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Visual loss / blindness / amblyopia

- Ambiguous genitalia
- Generalized obesity
- Glaucoma
- Inguinal / inguinoscrotal / crural hernia
- Scoliosis