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5 OMIM references -
4 associated genes
11 signs/symptoms
PROTEIN INTERACTIONS: 2
1 OMIM reference -
1 associated gene
29 signs/symptoms
Nephroblastoma
Ankyloblepharon - ectodermal defects - cleft lip/palate

DIS3L2 TP63
H19
POU6F2
WT1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
H19
WT1
(0.63)
(0.55)
TP63
TP63



Citations in the biomedical literature:


Nephroblastoma
DIS3L2 H19 POU6F2 WT1
Ankyloblepharon - ectodermal defects - cleft lip/palate
TP63



Nephroblastoma
Ankyloblepharon - ectodermal defects - cleft lip/palate

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

Synonym(s):
- AEC syndrome
- Hay-Wells syndrome

Classification (Orphanet):
- Rare genetic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic disease
- Rare skin 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: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant

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

Nephroblastoma
Ankyloblepharon - ectodermal defects - cleft lip/palate

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 dominant inheritance
- Broad nose / nasal bridge
- Coarse / thick hair
- Cryptophthalmia / ankyloblepharon / synblepharon
- Dysplastic / thick / grooved fingernails
- Dysplastic / thick / grooved toenails
- Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Lateral cleft lip / gingival cleft / paramedian nasal cleft

Frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Absent / decreased lashes
- Absent / decreased / thin eyebrows
- Anodontia / oligodontia / hypodontia
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Diffuse / generalised skin hyperpigmentation / melanoderma
- Enamel anomaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Palmoplantar hyperkeratosis / keratoderma
- Tooth shape anomaly

Occasional
- Abnormal cry / voice / phonation disorder / nasal speech
- Autosomal recessive inheritance
- Clinodactyly of fifth finger
- Conductive deafness / hearing loss
- Defect / anomaly of lacrimal system
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Prominent / bat ears
- Supernumerary nipples / polythelia
- Syndactyly of fingers / interdigital palm
- Ventricular septal defect / interventricular communication