Kowarski Syndrome malady
Categories: Genetic diseases, Rare diseases, Endocrine diseases, Immune diseases
Aliases & Descriptions for Kowarski Syndrome:
Orphanet epidemiological data:53
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases
Anatomical: Endocrine diseases, Immune diseases
Rare endocrine diseases
UniProtKB/Swiss-Prot:69 Kowarski syndrome: A syndrome clinically characterized by short stature associated with bioinactive growth hormone, normal or slightly increased growth hormone secretion, pathologically low insulin-like growth factor 1 levels, and normal catch-up growth on growth hormone replacement therapy.
MalaCards based summary: Kowarski Syndrome, is also known as pituitary dwarfism with normal immunoreactive growth hormone and low somatomedin, and has symptoms including pituitary dwarfism, abnormality of metabolism/homeostasis and delayed skeletal maturation. An important gene associated with Kowarski Syndrome is GH1 (Growth Hormone 1). Affiliated tissues include pituitary and bone.
OMIM:51 Kowarski syndrome, or short stature associated with bioinactive growth hormone, is characterized clinically by normal... (262650) more...
Wikipedia:70 Kowarski syndrome describes cases of growth failure (height and bone age two standard deviations below... more...
MalaCards organs/tissues related to Kowarski Syndrome:35
UniProtKB/Swiss-Prot genetic disease variations for Kowarski Syndrome:69
Clinvar genetic disease variations for Kowarski Syndrome:5
Search GEO for disease gene expression data for Kowarski Syndrome.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet