MCID: KWR001
MIFTS: 21

Kowarski Syndrome malady

Endocrine diseases, Immune diseases categories

Summaries for Kowarski Syndrome

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Sources:
63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 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 bone and pituitary.

Description from OMIM:46 262650

Aliases & Classifications for Kowarski Syndrome

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
kowarski syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

kowarski syndrome 42 20 22 46 48 60
pituitary dwarfism with normal immunoreactive growth hormone and low somatomedin 42
short stature due to growth hormone qualitative anomaly 48
biodefective growth hormone 42


External Ids:

OMIM46 262650
ICD10 via Orphanet26 E23.0

Related Diseases for Kowarski Syndrome

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Clinical Features for Kowarski Syndrome

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Sources:
46OMIM
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Clinical features from OMIM:

262650

Clinical synopsis from OMIM:

262650

Drugs & Therapeutics for Kowarski Syndrome

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Sources:
5CenterWatch, 41NIH 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

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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

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32MalaCards
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MalaCards organs/tissues related to Kowarski Syndrome:

32
Bone, Pituitary

Animal Models for Kowarski Syndrome or affiliated genes

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Publications for Kowarski Syndrome

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Genetic Variations for Kowarski Syndrome

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Kowarski Syndrome:

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

Expression for genes affiliated with Kowarski Syndrome

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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

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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

Sources for Kowarski Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet