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Hypothyroidism due to deficient transcription factors involved in pituitary development or function
5 associated genes
17 signs/symptoms
COMMON GENES: 1
COMMON SIGNS: 2
Non-acquired combined pituitary hormone deficiency with spine abnormalities
1 OMIM reference -
1 associated gene
5 signs/symptoms
Hypothyroidism due to deficient transcription factors involved in pituitary development or function
Non-acquired combined pituitary hormone deficiency with spine abnormalities

HESX1
(UniProt - OMIM)
 LHX3
(UniProt - OMIM)
LHX3
(UniProt - OMIM)
LHX4
(UniProt - OMIM)
POU1F1
(UniProt - OMIM)
PROP1
(UniProt - OMIM)

COMMON
GENES 		LHX3


Citations in the biomedical literature:


Hypothyroidism due to deficient transcription factors involved in pituitary development or function
HESX1 LHX3 LHX4 POU1F1 PROP1
Non-acquired combined pituitary hormone deficiency with spine abnormalities



Hypothyroidism due to deficient transcription factors involved in pituitary development or function
Non-acquired combined pituitary hormone deficiency with spine abnormalities

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
(no data available)
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism
- Short stature / dwarfism / nanism

Hypothyroidism due to deficient transcription factors involved in pituitary development or function
Non-acquired combined pituitary hormone deficiency with spine abnormalities

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
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Septo-optic dysplasia



Very frequent
- Autosomal recessive inheritance
- Late puberty / hypogonadism / hypogenitalism
- Sensorineural deafness / hearing loss