ODCs

Click node...

1 OMIM reference -
1 associated gene
10 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

2 OMIM references -
1 associated gene
8 signs/symptoms

Papilloma of choroid plexus

Generalized resistance to thyroid hormone


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

Citations in the biomedical literature:

Papilloma of choroid plexus		Generalized resistance to thyroid hormone
	Synonym(s): (no synonyms)		Synonym(s): - Deafness - thyroid hormone resistance - Refetoff syndrome

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


COMMON SIGNS	- Autosomal recessive inheritance

Papilloma of choroid plexus		Generalized resistance to thyroid hormone
	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 - Intellectual deficit / mental / psychomotor retardation / learning disability - Mild visual loss / impaired visual acuity - Neoplasms / tumors - Seizures / epilepsy / absences / spasms / status epilepticus		Very frequent - Beaked nose - Delayed bone age - Pectus carinatum - Punctate epiphyses / epiphysis - Scapula structural / position anomaly / congenital elevation / Sprengel anomaly - Sensorineural deafness / hearing loss - Thyroid anomalies