WAGR syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Wilms tumor - aniridia - genitourinary anomalies - intellectual deficit
Deletion 11p13
Monosomy 11p13
Number of Symptoms 31
OrphanetNr: 893
OMIM Id: 194072
612469
ICD-10: Q87.8
UMLs: C0206115
C2931803
MeSH: C538295
D017624
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Inherited renal cell cancer-predisposing syndrome
 -Rare genetic disease
 -Rare oncologic disease
 -Rare renal disease
Partial deletion of the short arm of chromosome 11
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Polymalformative genetic syndrome with increased risk of developing cancer
 -Rare genetic disease
 -Rare oncologic disease
Rare disease with glaucoma as a major feature
 -Rare eye disease
 -Rare genetic disease
Syndrome with 46,XY disorder of sex development
 -Rare developmental defect during embryogenesis
 -Rare endocrine disease
 -Rare genetic disease
 -Rare urogenital disease
Syndrome with disorder of sex development of gynecological interest
 -Rare genetic disease
 -Rare gynecologic or obstetric disease
Syndromic aniridia
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
Syndromic cataract
 -Rare eye disease
 -Rare genetic disease
Syndromic developmental defect of the eye
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
Syndromic obesity
 -Rare developmental defect during embryogenesis
 -Rare endocrine disease
 -Rare genetic disease
Syndromic renal or urinary tract malformation
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
 (HPO:0000130) Abnormality of the uterus occasional [HPO] 86 / 7739
2
 (HPO:0000028) Cryptorchidism typical [HPO] 347 / 7739
3
 (HPO:0000083) Renal insufficiency 10/46 [HPO] 232 / 7739
4
 (HPO:0000142) Abnormality of the vagina frequent [HPO] 24 / 7739
5
 (HPO:0000062) Ambiguous genitalia Occasional [Orphanet] 74 / 7739
6
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
7
 (HPO:0002667) Nephroblastoma typical [HPO] 30 / 7739
8
 (HPO:0000112) Nephropathy 40% [HPO] 92 / 7739
9
 (HPO:0010464) Streak ovary frequent [HPO] 8 / 7739
10
 (HPO:0000150) Gonadoblastoma occasional [HPO] 8 / 7739
11
 (HPO:0000047) Hypospadias Frequent [Orphanet] typical [HPO] 250 / 7739
12
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
13
 (HPO:0000159) Abnormality of the lip Frequent [Orphanet] 33 / 7739
14
 (HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
15
 (HPO:0000508) Ptosis Frequent [Orphanet] 459 / 7739
16
 (HPO:0000526) Aniridia hallmark [HPO] 12 / 7739
17
 (HPO:0000518) Cataract Frequent [Orphanet] 454 / 7739
18
 (HPO:0000572) Visual loss Frequent [Orphanet] 272 / 7739
19
 (HPO:0008053) Aplasia/Hypoplasia of the iris Very frequent [Orphanet] 38 / 7739
20
 (HPO:0000501) Glaucoma Occasional [Orphanet] 180 / 7739
21
 (HPO:0000639) Nystagmus Frequent [Orphanet] 555 / 7739
22
 (HPO:0000598) Abnormality of the ear Frequent [Orphanet] 98 / 7739
23
 (HPO:0001249) Intellectual disability typical [HPO] 1089 / 7739
24
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
25
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
26
 (HPO:0001513) Obesity Occasional [Orphanet] occasional [HPO] 172 / 7739
27
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
28
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
29
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
30
 (HPO:0001466) Contiguous gene syndrome 8 / 7739
31
 (HPO:0001428) Somatic mutation 100 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: