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1 OMIM reference -
1 associated gene
10 signs/symptoms
PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
13 signs/symptoms
Papilloma of choroid plexus
Peripheral resistance to thyroid hormones

TP53 THRA
THRB


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TP53
(0.83)
THRB



Citations in the biomedical literature:


Papilloma of choroid plexus
TP53
Peripheral resistance to thyroid hormones
THRA THRB



Papilloma of choroid plexus
Peripheral resistance to thyroid hormones

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

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

Epidemiological data:
(no data available)
Epidemiological data:
(no data available)

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

Papilloma of choroid plexus
Peripheral resistance to thyroid hormones

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


Very frequent
- Absent / hypotonic / flaccid abdominal wall muscles
- Autosomal dominant inheritance
- Coarse face
- Constipation
- Face / facial anomalies
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hepatitis / icterus / cholestasis
- Hypothyroidy
- Hypotonia
- Large fontanelle / delayed fontanelle closure
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Sleep and vigilance disorders
- Umbilical hernia