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KWKS
MCID: KWR001
MIFTS: 28
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Kowarski Syndrome (KWKS)
Categories:
Endocrine diseases, Genetic diseases, Immune diseases, Rare diseases
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MalaCards integrated aliases for Kowarski Syndrome:
Characteristics:Inheritance:
Kowarski Syndrome:
Autosomal recessive 57
Short Stature Due to Growth Hormone Qualitative Anomaly:
Autosomal recessive 58
Prevelance:
Short Stature Due to Growth Hormone Qualitative Anomaly:
<1/1000000 (Worldwide) 58
Age Of Onset:
Short Stature Due to Growth Hormone Qualitative Anomaly:
Infancy,Neonatal 58
Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Endocrine diseases Immune diseases
ICD10:
32
Orphanet: 58
Rare endocrine diseases |
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GARD: 19 Short stature due to growth hormone qualitative anomaly is characterised by growth retardation and short stature (despite the presence of normal or slightly elevated levels of immunoreactive growth hormone, GH), low concentrations of insulin-like growth factor-I (IGF-I) and a significant increase in growth rate following recombinant GH therapy. Prevalence is unknown but only a few cases have been reported in the literature. The syndrome is caused by various mutations in the GH1 gene (17q22-q24) that result in structural GH anomalies and a biologically inactive molecule. Transmission is autosomal recessive. MalaCards based summary: Kowarski Syndrome, also known as pituitary dwarfism with normal immunoreactive growth hormone and low somatomedin, is related to isolated growth hormone deficiency, type ii and isolated growth hormone deficiency. An important gene associated with Kowarski Syndrome is GH1 (Growth Hormone 1). Affiliated tissues include pituitary and bone, and related phenotypes are delayed skeletal maturation and abnormality of metabolism/homeostasis Orphanet: 58 Short stature due to growth hormone qualitative anomaly is characterised by growth retardation and short stature (despite the presence of normal or slightly elevated levels of immunoreactive growth hormone, GH), low concentrations of insulin-like growth factor-I (IGF-I) and a significant increase in growth rate following recombinant GH therapy. Prevalence is unknown but only a few cases have been reported in the literature. The syndrome is caused by various mutations in the GH1 gene (17q22-q24) that result in structural GH anomalies and a biologically inactive molecule. Transmission is autosomal recessive. UniProtKB/Swiss-Prot: 73 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. OMIM®: 57 Kowarski syndrome, or short stature associated with bioinactive growth hormone, is characterized clinically by normal or slightly increased GH secretion, pathologically low IGF1 (147440) levels, and normal catch-up growth on GH replacement therapy (Besson et al., 2005). (262650) (Updated 08-Dec-2022) Wikipedia: 75 Kowarski syndrome describes cases of growth failure (height and bone age two standard deviations below... more... |
Diseases related to Kowarski Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:(showing 4, show less)
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Human phenotypes related to Kowarski Syndrome:30 (showing 3, show less)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:262650 (Updated 08-Dec-2022) |
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Organs/tissues related to Kowarski Syndrome:
MalaCards :
Pituitary,
Bone
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Articles related to Kowarski Syndrome:(showing 11, show less)
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Genes related to Kowarski Syndrome (2 elite genes):(showing 2, show less) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Kowarski Syndrome:5 (showing 5, show less)
UniProtKB/Swiss-Prot genetic disease variations for Kowarski Syndrome:73 (showing 2, show less)
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Search
GEO
for disease gene expression data for Kowarski Syndrome.
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