KWKS
MCID: KWR001
MIFTS: 28

Kowarski Syndrome (KWKS)

Categories: Endocrine diseases, Genetic diseases, Immune diseases, Rare diseases
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Aliases & Classifications for Kowarski Syndrome

MalaCards integrated aliases for Kowarski Syndrome:

Name: Kowarski Syndrome 57 19 58 75 73 12 38 71
Pituitary Dwarfism with Normal Immunoreactive Growth Hormone and Low Somatomedin 57 19 73
Short Stature Due to Growth Hormone Qualitative Anomaly 58 28 5
Biodefective Growth Hormone 57 19 73
Kwks 73

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:

Orphanet: 58  
Rare endocrine diseases


External Ids:

OMIM® 57 262650
MeSH 43 D004393
ICD10 via Orphanet 32 E23.0
UMLS via Orphanet 72 C1849779
Orphanet 58 ORPHA629
MedGen 40 C1849779
SNOMED-CT via HPO 69 123983008 367460001 7530009
UMLS 71 C1849779

Summaries for Kowarski Syndrome

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 24-Oct-2022)

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

Related Diseases for Kowarski Syndrome

Diseases related to Kowarski Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 isolated growth hormone deficiency, type ii 9.7 GH1 GH-LCR
2 isolated growth hormone deficiency 9.6 GH1 GH-LCR
3 isolated growth hormone deficiency, type ib 9.6 GH1 GH-LCR
4 isolated growth hormone deficiency, type ia 9.5 GH1 GH-LCR

Symptoms & Phenotypes for Kowarski Syndrome

Human phenotypes related to Kowarski Syndrome:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 30 HP:0002750
2 abnormality of metabolism/homeostasis 30 HP:0001939
3 pituitary dwarfism 30 HP:0000839

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
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 (Updated 24-Oct-2022)

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 Short Stature Due to Growth Hormone Qualitative Anomaly 28 GH1

Anatomical Context for Kowarski Syndrome

Organs/tissues related to Kowarski Syndrome:

MalaCards : Pituitary, Bone

Publications for Kowarski Syndrome

Articles related to Kowarski Syndrome:

(show all 11)
# Title Authors PMID Year
1
Short stature caused by a biologically inactive mutant growth hormone (GH-C53S). 57 5
15713716 2005
2
Biologically inactive growth hormone caused by an amino acid substitution. 57 5
9276733 1997
3
Brief report: short stature caused by a mutant growth hormone. 57 5
8552145 1996
4
Evaluation of the biological activity of a growth hormone (GH) mutant (R77C) and its impact on GH responsiveness and stature. 5
17519310 2007
5
Pituitary dwarfism in a patient with circulating abnormal growth hormone polymers. 57
3965948 1985
6
Short stature associated with normal growth hormone and decreased somatomedin-C concentrations: response to exogenous growth hormone. 57
6340044 1983
7
Growth failure with normal serum RIA-GH and low somatomedin activity: somatomedin restoration and growth acceleration after exogenous GH. 57
263308 1978
8
Differential Diagnosis of the Short IGF-I-Deficient Child with Apparently Normal Growth Hormone Secretion. 62
34091447 2021
9
A first description of the Colombian national registry for rare diseases. 62
29073918 2017
10
Clinical significance and molecular mechanisms of bioinactive growth hormone (review). 62
9855700 1998
11
Short stature caused by a natural growth hormone antagonist. 62
9554469 1998

Variations for Kowarski Syndrome

ClinVar genetic disease variations for Kowarski Syndrome:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GH1, GH-LCR NM_000515.5(GH1):c.307C>T (p.Arg103Cys) SNV Pathogenic
15969 rs137853220 GRCh37: 17:61995269-61995269
GRCh38: 17:63917909-63917909
2 GH1, GH-LCR NM_000515.5(GH1):c.413A>G (p.Asp138Gly) SNV Pathogenic
15974 rs137853221 GRCh37: 17:61995163-61995163
GRCh38: 17:63917803-63917803
3 GH1, GH-LCR NM_000515.5(GH1):c.236G>C (p.Cys79Ser) SNV Pathogenic
15981 rs137853222 GRCh37: 17:61995432-61995432
GRCh38: 17:63918072-63918072
4 GH1, GH-LCR NM_000515.5(GH1):c.-4T>G SNV Benign
324460 rs6173 GRCh37: 17:61996140-61996140
GRCh38: 17:63918780-63918780
5 GH1, GH-LCR NM_000515.5(GH1):c.7A>G (p.Thr3Ala) SNV Benign
289503 rs2001345 GRCh37: 17:61996130-61996130
GRCh38: 17:63918770-63918770

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

73
# 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

GO Terms for Kowarski Syndrome

Sources for Kowarski Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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