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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
Monocytopenia with susceptibility to infections
1 OMIM reference -
1 associated gene
No signs/symptoms info
Hypothyroidism due to deficient transcription factors involved in pituitary development or function
Monocytopenia with susceptibility to infections

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
Monocytopenia with susceptibility to infections
GATA2



Hypothyroidism due to deficient transcription factors involved in pituitary development or function
Monocytopenia with susceptibility to infections

Synonym(s):
(no synonyms)

Synonym(s):
- Combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections
- Dentritic cell, monocyte, B and NK lymphoid deficiency
- MonoMAC
- Monocyte - B - natural killer - dendritic cell deficiency
- Monocytopenia and mycobacterial infection syndrome
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune 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: adulthood
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



Monocytopenia with susceptibility to infections

(no data available)