MCID: KWR001
MIFTS: 20

Kowarski Syndrome malady

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

Summaries for Kowarski Syndrome

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Sources:
66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 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:48 262650

Aliases & Classifications for Kowarski Syndrome

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Sources:
44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 50Orphanet, 63UMLS, 27ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
kowarski syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

kowarski syndrome 44 21 23 48 50 63
pituitary dwarfism with normal immunoreactive growth hormone and low somatomedin 44
short stature due to growth hormone qualitative anomaly 50
biodefective growth hormone 44


External Ids:

OMIM48 262650
ICD10 via Orphanet27 E23.0

Related Diseases for Kowarski Syndrome

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Symptoms for Kowarski Syndrome

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48OMIM
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Symptoms by clinical synopsis from OMIM:

262650

Clinical features from OMIM:

262650

Drugs & Therapeutics for Kowarski Syndrome

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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21GeneTests, 23GTR
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Genetic tests related to Kowarski Syndrome:

id Genetic test Affiliating Genes
1 Kowarski Syndrome21 23 GH1

Anatomical Context for Kowarski Syndrome

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34MalaCards
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MalaCards organs/tissues related to Kowarski Syndrome:

34
Bone, Pituitary

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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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Kowarski Syndrome:

65
id Symbol AA change Variation ID SNP ID
1GH1p.Arg103CysVAR_015809
2GH1p.Asp138GlyVAR_015813

Clinvar genetic disease variations for Kowarski Syndrome:

1
id Gene Name 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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Sources:
2BioGPS, 16Gene 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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet