KWKS
MCID: KWR001
MIFTS: 26

Kowarski Syndrome (KWKS)

Categories: Endocrine diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Kowarski Syndrome

MalaCards integrated aliases for Kowarski Syndrome:

Name: Kowarski Syndrome 57 75 53 59 74 37 29 13 6 40 72
Pituitary Dwarfism with Normal Immunoreactive Growth Hormone and Low Somatomedin 57 53 74
Biodefective Growth Hormone 57 53 74
Short Stature Due to Growth Hormone Qualitative Anomaly 59
Kwks 74

Characteristics:

Orphanet epidemiological data:

59
short stature due to growth hormone qualitative anomaly
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
kowarski syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare endocrine diseases


External Ids:

OMIM 57 262650
KEGG 37 H02039
MeSH 44 D004393
ICD10 via Orphanet 34 E23.0
UMLS via Orphanet 73 C1849779
Orphanet 59 ORPHA629
MedGen 42 C1849779
UMLS 72 C1849779

Summaries for Kowarski Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 629DefinitionShort 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.Visit the Orphanet disease page for more resources.

MalaCards based summary : Kowarski Syndrome, is also known as pituitary dwarfism with normal immunoreactive growth hormone and low somatomedin. An important gene associated with Kowarski Syndrome is GH1 (Growth Hormone 1), and among its related pathways/superpathways are Cytokine-cytokine receptor interaction and PI3K-Akt signaling pathway. Affiliated tissues include pituitary and bone, and related phenotypes are delayed skeletal maturation and abnormality of metabolism/homeostasis

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)

KEGG : 37
Kowarski syndrome is short stature associated with bioinactive growth hormone (GH). It is clinically characterized by normal or slightly increased GH secretion, pathologically low IGF-I levels, and normal catch-up growth on GH-replacement therapy. Missense mutations in the GH1 gene leading to Kowarski syndrome has been reported.

UniProtKB/Swiss-Prot : 74 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.

Wikipedia : 75 Kowarski syndrome describes cases of growth failure (height and bone age two standard deviations below... more...

Related Diseases for Kowarski Syndrome

Symptoms & Phenotypes for Kowarski Syndrome

Human phenotypes related to Kowarski Syndrome:

32
# Description HPO Frequency HPO Source Accession
1 delayed skeletal maturation 32 HP:0002750
2 abnormality of metabolism/homeostasis 32 HP:0001939
3 pituitary dwarfism 32 HP:0000839

Symptoms via clinical synopsis from OMIM:

57
Endocrine:
pituitary dwarfism

Radiology:
delayed bone age

Growth:
growth retardation

Lab:
normal immunoreactive growth hormone after stimulation
low somatomedin
exogenous human growth hormone responsive
structural abnormality of growth hormone molecule

Clinical features from OMIM:

262650

Drugs & Therapeutics for Kowarski Syndrome

Search Clinical Trials , NIH Clinical Center for Kowarski Syndrome

Genetic Tests for Kowarski Syndrome

Genetic tests related to Kowarski Syndrome:

# Genetic test Affiliating Genes
1 Kowarski Syndrome 29 GH1

Anatomical Context for Kowarski Syndrome

MalaCards organs/tissues related to Kowarski Syndrome:

41
Pituitary, Bone

Publications for Kowarski Syndrome

Articles related to Kowarski Syndrome:

# Title Authors PMID Year
1
Short stature caused by a biologically inactive mutant growth hormone (GH-C53S). 8 71
15713716 2005
2
Biologically inactive growth hormone caused by an amino acid substitution. 8 71
9276733 1997
3
Brief report: short stature caused by a mutant growth hormone. 8 71
8552145 1996
4
Evaluation of the biological activity of a growth hormone (GH) mutant (R77C) and its impact on GH responsiveness and stature. 71
17519310 2007
5
Pituitary dwarfism in a patient with circulating abnormal growth hormone polymers. 8
3965948 1985
6
Short stature associated with normal growth hormone and decreased somatomedin-C concentrations: response to exogenous growth hormone. 8
6340044 1983
7
Growth failure with normal serum RIA-GH and low somatomedin activity: somatomedin restoration and growth acceleration after exogenous GH. 8
263308 1978
8
Clinical significance and molecular mechanisms of bioinactive growth hormone (review). 38
9855700 1998
9
Short stature caused by a natural growth hormone antagonist. 38
9554469 1998

Variations for Kowarski Syndrome

ClinVar genetic disease variations for Kowarski Syndrome:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GH1 NM_000515.5(GH1): c.307C> T (p.Arg103Cys) single nucleotide variant Pathogenic rs137853220 17:61995269-61995269 17:63917909-63917909
2 GH1 NM_000515.5(GH1): c.413A> G (p.Asp138Gly) single nucleotide variant Pathogenic rs137853221 17:61995163-61995163 17:63917803-63917803
3 GH1 NM_000515.5(GH1): c.236G> C (p.Cys79Ser) single nucleotide variant Pathogenic rs137853222 17:61995432-61995432 17:63918072-63918072
4 GH1 NM_000515.5(GH1): c.-4T> G single nucleotide variant Benign/Likely benign rs6173 17:61996140-61996140 17:63918780-63918780
5 GH1 NM_000515.5(GH1): c.7A> G (p.Thr3Ala) single nucleotide variant Benign rs2001345 17:61996130-61996130 17:63918770-63918770

UniProtKB/Swiss-Prot genetic disease variations for Kowarski Syndrome:

74
# Symbol AA change Variation ID SNP ID
1 GH1 p.Arg103Cys VAR_015809 rs137853220
2 GH1 p.Asp138Gly VAR_015813 rs137853221

Expression for Kowarski Syndrome

Search GEO for disease gene expression data for Kowarski Syndrome.

Pathways for Kowarski Syndrome

Pathways related to Kowarski Syndrome according to KEGG:

37
# Name Kegg Source Accession
1 Cytokine-cytokine receptor interaction hsa04060
2 PI3K-Akt signaling pathway hsa04151
3 Neuroactive ligand-receptor interaction hsa04080
4 JAK-STAT signaling pathway hsa04630

GO Terms for Kowarski Syndrome

Sources for Kowarski Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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