MCID: KWR001
MIFTS: 20

Kowarski Syndrome

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

Aliases & Classifications for Kowarski Syndrome

MalaCards integrated aliases for Kowarski Syndrome:

Name: Kowarski Syndrome 57 76 53 59 75 37 29 13 6 40 73
Pituitary Dwarfism with Normal Immunoreactive Growth Hormone and Low Somatomedin 57 53 75
Biodefective Growth Hormone 57 53 75
Short Stature Due to Growth Hormone Qualitative Anomaly 59
Kwks 75

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
Orphanet 59 ORPHA629
ICD10 via Orphanet 34 E23.0
UMLS via Orphanet 74 C1849779
MedGen 42 C1849779
MeSH 44 D004393
KEGG 37 H02039
UMLS 73 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: 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 : 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)

UniProtKB/Swiss-Prot : 75 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 : 76 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

Symptoms via clinical synopsis from OMIM:

57
Growth:
growth retardation

Radiology:
delayed bone age

Endocrine:
pituitary dwarfism

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

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

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
Bone, Pituitary

Publications for Kowarski Syndrome

Variations for Kowarski Syndrome

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

75
# 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:

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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