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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
3 signs/symptoms
Laron syndrome with immunodeficiency
Mucocutaneous venous malformations

STAT5B TEK


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
STAT5B
(0.52)
TEK



Citations in the biomedical literature:


Laron syndrome with immunodeficiency
STAT5B
Mucocutaneous venous malformations
TEK



Laron syndrome with immunodeficiency
Mucocutaneous venous malformations

Synonym(s):
- Laron-like syndrome
- Short stature due to STAT5b deficiency

Synonym(s):
- Cutaneous and mucosal venous malformation
- VMCM

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare genetic disease

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

Mucocutaneous venous malformations

Very frequent
- Arteriovenous malformations / vascular malformations (excluding port-wine stains)
- Autosomal dominant inheritance
- Vascular anomalies of skin / mucosae



Laron syndrome with immunodeficiency

(no data available)