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1 OMIM reference -
1 associated gene
14 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
1 OMIM reference -
1 associated gene
10 signs/symptoms
Growth delay due to insulin-like growth factor I resistance
Papilloma of choroid plexus

IGF1R TP53


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
IGF1R
(0.63)
TP53



Citations in the biomedical literature:


Growth delay due to insulin-like growth factor I resistance
IGF1R
Papilloma of choroid plexus
TP53



Growth delay due to insulin-like growth factor I resistance
Papilloma of choroid plexus

Synonym(s):
- Resistance to IGF-1

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: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

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


COMMON
SIGNS
- Autosomal recessive inheritance
- Intellectual deficit / mental / psychomotor retardation / learning disability


Growth delay due to insulin-like growth factor I resistance
Papilloma of choroid plexus

Very frequent
- Autosomal dominant inheritance
- Chromosomal or genetic anomaly
- Intrauterine growth retardation
- Short stature / dwarfism / nanism

Frequent
- Abnormally placed nipples
- Broad nasal root
- Everted lower lip
- Microcephaly
- Pectus excavatum
- Philtrum flat / large / featureless / absent cupidon bows
- Short hand / brachydactyly
- Thin / retracted lips



Very frequent
- 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
- Mild visual loss / impaired visual acuity
- Neoplasms / tumors
- Seizures / epilepsy / absences / spasms / status epilepticus