MCID: KWR001
MIFTS: 19

Kowarski Syndrome malady

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

Aliases & Classifications for Kowarski Syndrome

About this section
Sources:
46OMIM, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 48Orphanet, 22GTR, 61UMLS, 26ICD10 via Orphanet
See all sources

Aliases & Descriptions for Kowarski Syndrome:

Name: Kowarski Syndrome 46 9 42 20 48 22 61
Short Stature Due to Growth Hormone Qualitative Anomaly 42 48
 
Pituitary Dwarfism with Normal Immunoreactive Growth Hormone and Low Somatomedin 42
Biodefective Growth Hormone 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
kowarski syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

OMIM46 262650
Orphanet48 629
ICD10 via Orphanet26 E23.0

Summaries for Kowarski Syndrome

About this section
OMIM:46 Kowarski syndrome, or short stature associated with bioinactive growth hormone, is characterized clinically by normal... (262650) more...

MalaCards based summary: Kowarski Syndrome, is also known as short stature due to growth hormone qualitative anomaly, and has symptoms including autosomal recessive inheritance, pituitary dwarfism and growth delay. An important gene associated with Kowarski Syndrome is GH1 (growth hormone 1). Affiliated tissues include pituitary and bone.

Wikipedia:64 Kowarski syndrome describes cases of growth failure (height and bone age two standard deviations below... more...

Related Diseases for Kowarski Syndrome

About this section

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 growth delay HP:0001510
4 abnormality of metabolism/homeostasis HP:0001939
5 delayed skeletal maturation HP:0002750

Drugs & Therapeutics for Kowarski Syndrome

About this section

Drug clinical trials:

Search ClinicalTrials for Kowarski Syndrome

Search 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 Syndrome20 22 GH1

Anatomical Context for Kowarski Syndrome

About this section

MalaCards organs/tissues related to Kowarski Syndrome:

31
Pituitary, Bone

Animal Models for Kowarski Syndrome or affiliated genes

About this section

Publications for Kowarski Syndrome

About this section

Variations for Kowarski Syndrome

About this section

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

63
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

Compounds for genes affiliated with Kowarski Syndrome

About this section

GO Terms for genes affiliated with Kowarski Syndrome

About this section

Sources for Kowarski Syndrome

About this section
2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet