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5 OMIM references -
4 associated genes
11 signs/symptoms
COMMON GENES: 1
1 OMIM reference -
1 associated gene
32 signs/symptoms
Nephroblastoma
Perlman syndrome

DIS3L2 DIS3L2
H19
POU6F2
WT1


COMMON
GENES
DIS3L2



Citations in the biomedical literature:


Nephroblastoma
DIS3L2 H19 POU6F2 WT1
Perlman syndrome



Nephroblastoma
Perlman syndrome

Synonym(s):
- Renal embryonic tumor
- Wilms tumor

Synonym(s):
- Nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor

Classification (Orphanet):
- Rare genetic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare oncologic disease

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

Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: childhood
Average age of death: any age
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

External references:
5 OMIM references -
1 MeSH reference: D009396
External references:
1 OMIM reference -
No MeSH references

Nephroblastoma
Perlman syndrome

Very frequent
- Acute abdominal pain / colic
- Kidney / renal neoplasm / tumor / carcinoma / cancer
- Neoplasms / tumors

Occasional
- Aniridia / iris hypoplasia
- Chronic arterial hypertension
- Fever / chilling
- Hematuria / microhematuria
- Hepatic / liver neoplasm / tumor / carcinoma / cancer
- Lung / bronchopulmonary neoplasm / tumor / carcinoma / cancer
- Lymphadenopathy / polyadenopathies
- Weight loss / loss of appetite / break in weight curve / general health alteration


Very frequent
- Autosomal recessive inheritance
- Broad nasal root
- Deepset eyes / enophthalmos
- Hepatomegaly / liver enlargement (excluding storage disease)
- High forehead
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Mouth held open
- Philtrum flat / large / featureless / absent cupidon bows
- Round face
- Short / small nose
- Tall stature / gigantism / growth acceleration

Frequent
- Anteverted nares / nostrils
- Broad alveolar ridge
- Epicanthic folds
- Helix thickened / sculpted
- High vaulted / narrow palate
- Hyperinsulinism / hyperinsulinemia
- Low set ears / posteriorly rotated ears
- Micropenis / small penis / agenesis
- Nephroblastoma / Wilms tumor
- Polyhydramnios
- Structural anomalies of the pancreas
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Dolichocephaly / scaphocephaly
- Inguinal / inguinoscrotal / crural hernia
- Ptosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Simian crease / transverse / unique palmar crease