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Hypothyroidism due to deficient transcription factors involved in pituitary development or function
5 associated genes
17 signs/symptoms
PROTEIN INTERACTIONS: 1
Dentatorubral pallidoluysian atrophy
1 OMIM reference -
1 associated gene
No signs/symptoms info
Hypothyroidism due to deficient transcription factors involved in pituitary development or function
Dentatorubral pallidoluysian atrophy

HESX1
(UniProt - OMIM)
 ATN1
(UniProt - OMIM)
LHX3
(UniProt - OMIM)
LHX4
(UniProt - OMIM)
POU1F1
(UniProt - OMIM)
PROP1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
PROP1
(0.63)
ATN1


Citations in the biomedical literature:


Hypothyroidism due to deficient transcription factors involved in pituitary development or function
HESX1 LHX3 LHX4 POU1F1 PROP1
Dentatorubral pallidoluysian atrophy
ATN1



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

Synonym(s):
(no synonyms)

Synonym(s):
- DRPLA
- Dentatorubropallidoluysian atrophy
- Naito-Oyanagi disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant
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



Dentatorubral pallidoluysian atrophy

(no data available)