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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
COMMON SIGNS: 1
Deafness - lymphedema - leukemia
1 OMIM reference -
1 associated gene
29 signs/symptoms
Hypothyroidism due to deficient transcription factors involved in pituitary development or function
Deafness - lymphedema - leukemia

HESX1
(UniProt - OMIM)
 GATA2
(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)
POU1F1
(0.88)
GATA2


Citations in the biomedical literature:


Hypothyroidism due to deficient transcription factors involved in pituitary development or function
HESX1 LHX3 LHX4 POU1F1 PROP1
Deafness - lymphedema - leukemia
GATA2



Hypothyroidism due to deficient transcription factors involved in pituitary development or function
Deafness - lymphedema - leukemia

Synonym(s):
(no synonyms)

Synonym(s):
- Emberger syndrome
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare hematologic disease
- Rare oncologic disease
- Rare otorhinolaryngologic disease
- Rare skin disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: no data available
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Asthenia / fatigue / weakness

Hypothyroidism due to deficient transcription factors involved in pituitary development or function
Deafness - lymphedema - leukemia

Very frequent
- Absent / hypotonic / flaccid abdominal wall muscles
- 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



Very frequent
- Acute leukemia
- Autosomal dominant inheritance
- Bone marrow failure / pancytopenia
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Lymphedema
- Polynuclear cells / neutrophils anomalies / neutropenia
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Sensorineural deafness / hearing loss
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Thrombocytopenia / thrombopenia

Frequent
- Blood hyperviscosity / hypercoagulability
- Bruisability
- Chronic / relapsing otitis
- Dizziness
- Facial pain / cephalalgia / migraine
- Fever / chilling
- Hepatomegaly / liver enlargement (excluding storage disease)
- Intracranial / cerebral / meningeal hemorrhage
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Pallor
- Repeat respiratory infections
- Splenomegaly
- Visual loss / blindness / amblyopia
- Weight loss / loss of appetite / break in weight curve / general health alteration

Occasional
- Hyperleukocytosis / leukocytosis
- Lymphadenopathy / polyadenopathies
- Myeloproliferative syndrome / chronic leukemia