Details of Disease

General Information of Disease (ID: DISJJ233)

Disease Name Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
Synonyms
growth hormone insensitivity with immunodeficiency; Laron syndrome with immunodeficiency; Laron-like syndrome; short stature due to STAT5b deficiency; Laron syndrome due to postreceptor defect; growth hormone insensitivity due to postreceptor defect
Disease Hierarchy
DISCPWH9: Autosomal recessive disease
DISUJY9X: Growth hormone insensitivity syndrome with immune dysregulation
DISAEGPH: Immune system disorder
DISJJ233: Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
Disease Identifiers
MONDO ID
MONDO_0100211
UMLS CUI
C5435698
OMIM ID
245590
MedGen ID
1734133
Orphanet ID
220465

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
STAT5B OTZVPEBT Strong Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 Severe growth hormone insensitivity resulting from total absence of signal transducer and activator of transcription 5b. J Clin Endocrinol Metab. 2005 Jul;90(7):4260-6. doi: 10.1210/jc.2005-0515. Epub 2005 Apr 12.