KWKS
MCID: KWR001
MIFTS: 21

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 58 77 54 60 76 38 30 13 6 41 74
Pituitary Dwarfism with Normal Immunoreactive Growth Hormone and Low Somatomedin 58 54 76
Biodefective Growth Hormone 58 54 76
Short Stature Due to Growth Hormone Qualitative Anomaly 60
Kwks 76

Characteristics:

Orphanet epidemiological data:

60
short stature due to growth hormone qualitative anomaly
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
kowarski syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare endocrine diseases


External Ids:

OMIM 58 262650
KEGG 38 H02039
MeSH 45 D004393
ICD10 via Orphanet 35 E23.0
UMLS via Orphanet 75 C1849779
Orphanet 60 ORPHA629
MedGen 43 C1849779
UMLS 74 C1849779

Summaries for Kowarski Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 629Disease definitionShort 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 bone and pituitary, and related phenotypes are delayed skeletal maturation and abnormality of metabolism/homeostasis

OMIM : 58 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)

UniProtKB/Swiss-Prot : 76 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 : 77 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:

33
# Description HPO Frequency HPO Source Accession
1 delayed skeletal maturation 33 HP:0002750
2 abnormality of metabolism/homeostasis 33 HP:0001939
3 pituitary dwarfism 33 HP:0000839

Symptoms via clinical synopsis from OMIM:

58
Endocrine:
pituitary dwarfism

Growth:
growth retardation

Radiology:
delayed bone age

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 30 GH1

Anatomical Context for Kowarski Syndrome

MalaCards organs/tissues related to Kowarski Syndrome:

42
Bone, Pituitary

Publications for Kowarski Syndrome

Variations for Kowarski Syndrome

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

76
# Symbol AA change Variation ID SNP ID
1 GH1 p.Arg103Cys VAR_015809 rs137853220
2 GH1 p.Asp138Gly VAR_015813 rs137853221

ClinVar genetic disease variations for Kowarski Syndrome:

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

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:

38
# 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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