ORPHA:893
WAGR syndrome
Synonyms: Del(11)(p13) · Deletion 11p13 · Monosomy 11p13 · Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare genetic disorder characterized by the association of complete or partial congenital aniridia (and associated eyes abnormalities), genitourinary anomalies (ranging from sexual ambiguity to ectopic testis), variable degrees of intellectual disability and an increased risk of developing Wilms tumors. A minority of patients develop kidney failure. Other variable findings may include obesity and duplicated halluces.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | WAGR syndrome | Del(11)(p13) · Deletion 11p13 · Monosomy 11p13 · Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome |
| fr | Syndrome WAGR | Del(11)(p13) · Délétion 11p13 · Monosomie 11p13 · Syndrome de tumeur de Wilms-aniridie-anomalies génito-urinaires-déficience intellectuelle |
| de | WAGR-Syndrom | Del(11)(p13) · Deletion 11p13 · Monosomie 11p13 · Wilms-Tumor-Aniridie-urogenitale Anomalien-Intelligenzminderung-Syndrom |
| es | Síndrome WAGR | Del(11)(p13) · Deleción 11p13 · Monosomía 11p13 · Síndrome de tumor de Wilms-aniridia-anomalías genitourinarias-discapacidad intelectual |
| it | Sindrome WAGR | Delezione 11p13 · Monosomia 11p13 · Del(11)(p13) · Sindrome tumore di Wilms-aniridia-anomalie urogenitali-disabilità intellettiva |
| nl | WAGR-syndroom | Del(11)(p13) · Deletie 11p13 · Monosomie 11p13 · Wilmstumor - aniridie - genito-urinaire anomalieën - intellectuele achterstand-syndroom |
| pt | Síndrome WAGR | Del(11)(p13) · Deleção 11p13 · Monossomia 11p13 · Tumor de Wilms-aniridia-anomalias genitourinárias-perturbação do desenvolvimento intelectual |
| pl | Zespół WAGR | Del(11)(p13) · Delecja 11p13 · Monosomia 11p13 · Zespół guza Wilmsa, aniridii, wad moczowo-płciowych i niepełnosprawności intelektualnej |
| cs | WAGR syndrom | Delece 11p13 · Monozomie 11p13 · Syndrom zahrnující Wilmsův tumor, aniridii, anomálie močopohlavního systému a mentální retardaci |
| uk | Синдром WAGR | Del(11)(p13) · Делеція 11p13 · Моносомія 11p13 · Синдром пухлини Вільмса - аніридії - аномалій сечостатевої системи - інтелектуальної недостатності |
| zh | WAGR综合征 | Wilms瘤-无虹膜-泌尿生殖道畸形-智力障碍综合征 |
| tr | WAGR sendromu | Del (11) (p13) · Delesyon 11p13 · Monozomi 11p13 · Wilms tümörü-aniridi-genitoüriner anomaliler-zihinsel yetersizlik sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 194072 | E | validated | |
| OMIM | 612469 | BTNT | validated | |
| ICD-10 | C64 | NTBT | attributed | validated |
| ICD-11 | LD2A.Y | NTBT | index | validated |
| MONDO | 0008681 | E | validated | |
| MeSH | D017624 | E | validated | |
| UMLS | C0206115 | E | validated | |
| GARD | 5528 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (13):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:319328Inherited renal cancer-predisposing syndrome
rare genetic diseases; rare renal diseases; rare neoplastic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:261947Partial deletion of the short arm of chromosome 11 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:183422Polymalformative genetic syndrome with increased risk of developing cancer
rare genetic diseases; rare neoplastic diseases - ORPHA:98638Rare disease with glaucoma as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:98087Syndrome with 46,XY difference of sex development
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases; rare endocrine diseases - ORPHA:325638Syndrome with difference of sex development of gynecological interest
rare genetic diseases; rare gynecological and obstetric diseases - ORPHA:98557Syndromic aniridia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases - ORPHA:240371Syndromic obesity
rare developmental anomalies during embryogenesis; rare genetic diseases; rare endocrine diseases - ORPHA:93547Syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related disorders
No children.
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Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BDNF | Role in the phenotype of | Assessed | HGNC:1033 | ENSG00000176697 | 113505 | 11p14.1 | brain derived neurotrophic factor | 23266638[PMID]_18753648[PMID] |
| PAX6 | Role in the phenotype of | Assessed | HGNC:8620 | ENSG00000007372 | 607108 | 11p13 | paired box 6 | 20301534[PMID]_23266638[PMID] |
| WT1 | Role in the phenotype of | Assessed | HGNC:12796 | ENSG00000184937 | 607102 | 11p13 | WT1 transcription factor | 20301534[PMID]_23266638[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.2 / 100 000 | Worldwide | Value and class | Validated | 20301534[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
18 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008053 | Aplasia/Hypoplasia of the iris | |
| Frequent (79-30%) | ||
| HP:0000518 | Cataract | |
| HP:0000028 | Cryptorchidism | |
| HP:0100627 | Displacement of the urethral meatus | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0000364 | Hearing abnormality | |
| HP:0001249 | Intellectual disability | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0000639 | Nystagmus | |
| HP:0000508 | Ptosis | |
| HP:0004322 | Short stature | |
| HP:0000505 | Visual impairment | |
| Occasional (29-5%) | ||
| HP:0000062 | Ambiguous genitalia | |
| HP:0007299 | Dysfunction of lateral corticospinal tracts | |
| HP:0000501 | Glaucoma | |
| HP:0001513 | Obesity | |
| HP:0002650 | Scoliosis | |
Run the differential on the 1 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/893
- This record as JSON: /data/d/893.json