MCID: KWR001
MIFTS: 27

Kowarski Syndrome malady

Genetic diseases, Rare diseases, Immune diseases, Endocrine diseases categories

Aliases & Classifications for Kowarski Syndrome

About this section

Aliases & Descriptions for Kowarski Syndrome:

Name: Kowarski Syndrome 49 11 45 22 24 65 67
Pituitary Dwarfism with Normal Immunoreactive Growth Hormone and Low Somatomedin 45 67
 
Biodefective Growth Hormone 45 67
Kwks 67


Classifications:



External Ids:

OMIM49 262650
MedGen34 C1849779
MeSH36 D004393

Summaries for Kowarski Syndrome

About this section
UniProtKB/Swiss-Prot:67 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.

MalaCards based summary: Kowarski Syndrome, also known as pituitary dwarfism with normal immunoreactive growth hormone and low somatomedin, is related to short stature due to growth hormone qualitative anomaly and spondyloepiphyseal dysplasia, cantu type, and has symptoms including autosomal recessive inheritance, pituitary dwarfism and abnormality of metabolism/homeostasis. An important gene associated with Kowarski Syndrome is GH1 (Growth Hormone 1), and among its related pathways is G-Beta Gamma Signaling. Affiliated tissues include pituitary, and related mouse phenotype adipose tissue.

OMIM:49 Kowarski syndrome, or short stature associated with bioinactive growth hormone, is characterized clinically by normal... (262650) more...

Related Diseases for Kowarski Syndrome

About this section

Graphical network of diseases related to Kowarski Syndrome:



Diseases related to kowarski syndrome

Symptoms for Kowarski Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

262650

Clinical features from OMIM:

262650

HPO human phenotypes related to Kowarski Syndrome:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 pituitary dwarfism HP:0000839
3 abnormality of metabolism/homeostasis HP:0001939
4 delayed skeletal maturation HP:0002750

Drugs & Therapeutics for Kowarski Syndrome

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Kowarski Syndrome

Genetic Tests for Kowarski Syndrome

About this section

Genetic tests related to Kowarski Syndrome:

id Genetic test Affiliating Genes
1 Kowarski Syndrome22 24 GH1

Anatomical Context for Kowarski Syndrome

About this section

MalaCards organs/tissues related to Kowarski Syndrome:

33
Pituitary

Animal Models for Kowarski Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Kowarski Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.1GH1, GHRHR

Publications for Kowarski Syndrome

About this section

Variations for Kowarski Syndrome

About this section

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

67
id Symbol AA change Variation ID SNP ID
1GH1p.Arg103CysVAR_015809
2GH1p.Asp138GlyVAR_015813

Clinvar genetic disease variations for Kowarski Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1GH1NM_000515.4(GH1): c.307C> T (p.Arg103Cys)single nucleotide variantPathogenicrs137853220GRCh37Chr 17, 61995269: 61995269
2GH1NM_000515.4(GH1): c.413A> G (p.Asp138Gly)single nucleotide variantPathogenicrs137853221GRCh37Chr 17, 61995163: 61995163
3GH1NM_000515.4(GH1): c.236G> C (p.Cys79Ser)single nucleotide variantPathogenicrs137853222GRCh37Chr 17, 61995432: 61995432

Expression for genes affiliated with Kowarski Syndrome

About this section
Search GEO for disease gene expression data for Kowarski Syndrome.

Pathways for genes affiliated with Kowarski Syndrome

About this section

Pathways related to Kowarski Syndrome according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1GH1, GHRHR

GO Terms for genes affiliated with Kowarski Syndrome

About this section

Biological processes related to Kowarski Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of insulin-like growth factor receptor signaling pathwayGO:00435689.3GH1, GHRHR
2positive regulation of multicellular organism growthGO:00400189.1GH1, GHRHR

Sources for Kowarski Syndrome

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet