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PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Hypothyroidism due to deficient transcription factors involved in pituitary development or function
Familial clubfoot due to PITX1 point mutation

HESX1 PITX1
LHX3
LHX4
POU1F1
PROP1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
POU1F1
(0.78)
PITX1



Citations in the biomedical literature:


Hypothyroidism due to deficient transcription factors involved in pituitary development or function
HESX1 LHX3 LHX4 POU1F1 PROP1
Familial clubfoot due to PITX1 point mutation
PITX1



Hypothyroidism due to deficient transcription factors involved in pituitary development or function
Familial clubfoot due to PITX1 point mutation

Synonym(s):
(no synonyms)

Synonym(s):
- Hereditary clubfoot due to PITX1 point mutation

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

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

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

Hypothyroidism due to deficient transcription factors involved in pituitary development or function

Very frequent
- Absent / hypotonic / flaccid abdominal wall muscles
- Asthenia / fatigue / weakness
- 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
- Sleep and vigilance disorders
- Umbilical hernia

Frequent
- Cleft lip and palate
- Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Septo-optic dysplasia
- Short stature / dwarfism / nanism



Familial clubfoot due to PITX1 point mutation

(no data available)