Growth Hormone Insensitivity with Immunodeficiency malady
Categories: Genetic diseases, Rare diseases, Endocrine diseases, Blood diseases, Immune diseases
Aliases & Descriptions for Growth Hormone Insensitivity with Immunodeficiency:
Orphanet epidemiological data:52
short stature due to stat5b deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide)
Global: Genetic diseases, Rare diseases
Anatomical: Endocrine diseases, Blood diseases, Immune diseases
UniProtKB/Swiss-Prot:68 Growth hormone insensitivity with immunodeficiency: A disease characterized by short stature, growth hormone deficiency in the presence of normal to elevated circulating concentrations of growth hormone, resistance to hexogeneous growth hormone therapy, and recurrent infections.
MalaCards based summary: Growth Hormone Insensitivity with Immunodeficiency, is also known as growth hormone insensitivity due to postreceptor defect, and has symptoms including growth hormone deficiency, respiratory difficulties and severe short stature. An important gene associated with Growth Hormone Insensitivity with Immunodeficiency is STAT5B (Signal Transducer And Activator Of Transcription 5B).
Description from OMIM:50 245590
UniProtKB/Swiss-Prot genetic disease variations for Growth Hormone Insensitivity with Immunodeficiency:68
Clinvar genetic disease variations for Growth Hormone Insensitivity with Immunodeficiency:5
Search GEO for disease gene expression data for Growth Hormone Insensitivity with Immunodeficiency.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet