Cytoscape Web
Click node...


Short stature - pituitary and cerebellar defects - small sella turcica
Hypothyroidism due to deficient transcription factors involved in pituitary development or function

LHX4 HESX1
LHX3
LHX4
POU1F1
PROP1


COMMON
GENES
LHX4



Citations in the biomedical literature:


Short stature - pituitary and cerebellar defects - small sella turcica
LHX4
Hypothyroidism due to deficient transcription factors involved in pituitary development or function
HESX1 LHX3 POU1F1 PROP1



Short stature - pituitary and cerebellar defects - small sella turcica
Hypothyroidism due to deficient transcription factors involved in pituitary development or function

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

Classification (ICD10):
(no data available)
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

External references:
1 OMIM reference -
No MeSH references
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



Short stature - pituitary and cerebellar defects - small sella turcica

(no data available)