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11 OMIM references -
12 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
10 signs/symptoms
MODY syndrome
Papilloma of choroid plexus

ABCC8 TP53
BLK
CEL
GCK
HNF1A
HNF4A
INS
KCNJ11
KLF11
NEUROD1
PAX4
PDX1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HNF4A
(0.85)
TP53



Citations in the biomedical literature:


MODY syndrome
ABCC8 BLK CEL GCK HNF1A HNF4A
INS KCNJ11 KLF11 NEUROD1 PAX4 PDX1

Papilloma of choroid plexus
TP53



MODY syndrome
Papilloma of choroid plexus

Synonym(s):
- Maturity-onset diabetes of the young

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Rare neurologic disease
- Rare oncologic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Neoplasms -

Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

External references:
11 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D020288

Papilloma of choroid plexus

Very frequent
- Autosomal recessive inheritance
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Hydrocephaly
- Structural anomalies of the nervous system

Occasional
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hypertonia / spasticity / rigidity / stiffness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Mild visual loss / impaired visual acuity
- Neoplasms / tumors
- Seizures / epilepsy / absences / spasms / status epilepticus


MODY syndrome

(no data available)