MCID: KWR001
MIFTS: 19

Kowarski Syndrome malady

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

Aliases & Classifications for Kowarski Syndrome

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 47Orphanet, 22GTR, 60UMLS, 26ICD10 via Orphanet
See all sources

Kowarski Syndrome, Aliases & Descriptions:

Name: Kowarski Syndrome 45 10 41 20 47 22 60
Short Stature Due to Growth Hormone Qualitative Anomaly 41 47
 
Pituitary Dwarfism with Normal Immunoreactive Growth Hormone and Low Somatomedin 41
Biodefective Growth Hormone 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Endocrine diseases, Immune diseases


Characteristics (Orphanet epidemiological data):

47
kowarski syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

OMIM45 262650
Orphanet47 629
ICD10 via Orphanet26 E23.0

Summaries for Kowarski Syndrome

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OMIM:45 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:63 Kowarski syndrome describes cases of growth failure (height and bone age two standard deviations below... more...

Related Diseases for Kowarski Syndrome

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Symptoms for Kowarski Syndrome

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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

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Drug clinical trials:

Search ClinicalTrials for Kowarski Syndrome

Search NIH Clinical Center for Kowarski Syndrome

Genetic Tests for Kowarski Syndrome

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Genetic tests related to Kowarski Syndrome:

id Genetic test Affiliating Genes
1 Kowarski Syndrome20 22 GH1

Anatomical Context for Kowarski Syndrome

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MalaCards organs/tissues related to Kowarski Syndrome:

31
Pituitary, Bone

Animal Models for Kowarski Syndrome or affiliated genes

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Publications for Kowarski Syndrome

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Variations for Kowarski Syndrome

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

62
id Symbol AA change Variation ID SNP ID
1GH1p.Arg103CysVAR_015809
2GH1p.Asp138GlyVAR_015813

Clinvar genetic disease variations for Kowarski Syndrome:

6
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

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Search GEO for disease gene expression data for Kowarski Syndrome.

Pathways for genes affiliated with Kowarski Syndrome

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Compounds for genes affiliated with Kowarski Syndrome

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GO Terms for genes affiliated with Kowarski Syndrome

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Products for genes affiliated with Kowarski Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Kowarski Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet