MCID: KWR001
MIFTS: 13

Kowarski Syndrome malady

Endocrine, Immune categories

Summaries for Kowarski Syndrome

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 Kowarski syndrome describes cases of growth failure (height and bone age two standard deviations below... more...

MalaCards: 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). Affiliated tissues include pituitary.

Description from OMIM:47 262650

Aliases & Classifications for Kowarski Syndrome

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Endocrine, Immune


Characteristics (Orphanet epidemiological data):

49
kowarski syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

kowarski syndrome 43 20 22 47 49 61
pituitary dwarfism with normal immunoreactive growth hormone and low somatomedin 43
short stature due to growth hormone qualitative anomaly 49
biodefective growth hormone 43


External Ids:

OMIM47 262650
ICD10 via Orphanet26 E23.0

Related Diseases for Kowarski Syndrome

Clinical Features for Kowarski Syndrome

Sources:
47OMIM
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Clinical features from OMIM:

262650

Clinical synopsis from OMIM:

262650

Drugs & Therapeutics for Kowarski Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Kowarski Syndrome

Drug clinical trials:

Search ClinicalTrials for Kowarski Syndrome

Search NIH Clinical Center for Kowarski Syndrome

Search CenterWatch for Kowarski Syndrome

Genetic Tests for Kowarski Syndrome

Sources:
20GeneTests, 22GTR
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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

Sources:
33MalaCards
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MalaCards organs/tissues related to Kowarski Syndrome:

33
Pituitary

Animal Models for Kowarski Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Kowarski Syndrome

Genetic Variations for Kowarski Syndrome

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Kowarski Syndrome:

63
id Symbol AA change Variation SNP ID
1GH1p.Arg103CysVAR_015809
2GH1p.Asp138GlyVAR_015813

Expression for genes affiliated with Kowarski Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Kowarski Syndrome

Search GEO for disease gene expression data for Kowarski Syndrome.

Pathways for genes affiliated with Kowarski Syndrome

Compounds for genes affiliated with Kowarski Syndrome

GO Terms for genes affiliated with Kowarski Syndrome

Products for genes affiliated with Kowarski Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Kowarski Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet