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2 OMIM references -
6 associated genes
14 signs/symptoms
PROTEIN INTERACTIONS: 1
1 associated gene
No signs/symptoms info
Athyreosis
Unilateral retinoblastoma

FOXE1 RB1
NKX2-1
NKX2-5
PAX8
SLC26A4
TSHR


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PAX8
(0.63)
RB1



Citations in the biomedical literature:


Athyreosis
FOXE1 NKX2-1 NKX2-5 PAX8 SLC26A4 TSHR

Unilateral retinoblastoma
RB1



Athyreosis
Unilateral retinoblastoma

Synonym(s):
(no synonyms)

Synonym(s):
- Non-familial retinoblastoma
- Non-hereditary retinoblastoma

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

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

Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: sporadic

External references:
2 OMIM references -
No MeSH references
External references:
No OMIM references
No MeSH references

Athyreosis

Very frequent
- Absent / hypotonic / flaccid abdominal wall muscles
- Asthenia / fatigue / weakness
- Coarse face
- Constipation
- Ectopic / agenesis / dysgenesis / hypoplastic thyroid
- Face / facial anomalies
- Hypothyroidy
- Hypotonia
- Large fontanelle / delayed fontanelle closure
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Muscle weakness / flaccidity
- Sleep and vigilance disorders

Frequent
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Short stature / dwarfism / nanism



Unilateral retinoblastoma

(no data available)