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STAT5B

signal transducer and activator of transcription 5B

HCNC Approved Symbol
STAT5B (HGNC:11367)
Genomic Coordinates
17:42,199,177 - 42,288,370 (17q21.2)
Synonyms
Disease Associations
This gene is associated with the following 3 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
245590AR
Growth hormone insensitivity with immune dysregulation 2, autosomal dominant
618985AD
Leukemia, acute promyelocytic, somatic
102578-

Diagnosed Cases

2Patients

In total, 2 patients were diagnosed with a variant in the STAT5B gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Severe short stature
 1 (50.0%)
Decreased serum insulin-like growth factor 1
 1 (50.0%)
Short stature
 1 (50.0%)