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5 OMIM references -
8 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
6 associated genes
14 signs/symptoms
Primary biliary cirrhosis
Thyroid hypoplasia

IL12A FOXE1
IL12RB1 NKX2-1
IRF5 NKX2-5
MMEL1 PAX8
POU2AF1 SLC26A4
SPIB TSHR
TNFSF15
TNPO3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
POU2AF1
(0.63)
PAX8



Citations in the biomedical literature:


Primary biliary cirrhosis
IL12A IL12RB1 IRF5 MMEL1 POU2AF1 SPIB
TNFSF15 TNPO3
Thyroid hypoplasia
FOXE1 NKX2-1 NKX2-5 PAX8 SLC26A4 TSHR



Primary biliary cirrhosis
Thyroid hypoplasia

Synonym(s):
- Hanot syndrome

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare hepatic disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease

Classification (ICD10):
- Diseases of the digestive system -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: multigenic/multifactorial
Epidemiological data:
(no data available)

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

Thyroid hypoplasia

Very frequent
- Absent / hypotonic / flaccid abdominal wall muscles
- Asthenia / fatigue / weakness
- Coarse face
- Constipation
- Ectopic / agenesis / dysgenesis / hypoplastic thyroid
- 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

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



Primary biliary cirrhosis

(no data available)