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

CTNNB1 HESX1
LHX3
LHX4
POU1F1
PROP1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CTNNB1
(0.75)
PROP1



Citations in the biomedical literature:


Pilomatrixoma
CTNNB1
Hypothyroidism due to deficient transcription factors involved in pituitary development or function
HESX1 LHX3 LHX4 POU1F1 PROP1



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

Synonym(s):
- Epithelioma calcificans of Malherbe
- Pilomatricoma

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare oncologic disease
- Rare skin 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: D018296
External references:
No OMIM references
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



Pilomatrixoma

(no data available)