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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
5 OMIM references -
4 associated genes
11 signs/symptoms
Cerebellar ataxia-deafness-narcolepsy syndrome
Nephroblastoma

DNMT1 DIS3L2
H19
POU6F2
WT1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
DNMT1
(0.63)
WT1



Citations in the biomedical literature:


Cerebellar ataxia-deafness-narcolepsy syndrome
DNMT1
Nephroblastoma
DIS3L2 H19 POU6F2 WT1



Cerebellar ataxia-deafness-narcolepsy syndrome
Nephroblastoma

Synonym(s):
- ADCA-DN
- Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome

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

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

Classification (ICD10):
(no data available)
Classification (ICD10):
- Neoplasms -

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

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

Nephroblastoma

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


Cerebellar ataxia-deafness-narcolepsy syndrome

(no data available)