MCID: KWR001
MIFTS: 22

Kowarski Syndrome malady

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

Summaries for Kowarski Syndrome

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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 biodefective growth hormone, 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 bone and pituitary.

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

Aliases & Classifications for Kowarski Syndrome

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Sources:
42NIH Rare Diseases, 21GeneTests, 23GTR, 46OMIM, 48Orphanet, 61UMLS, 27ICD10 via Orphanet
See all sources

Kowarski Syndrome, Aliases & Descriptions:

Name: Kowarski Syndrome 42 21 23 46 48 61
Biodefective Growth Hormone 42 61
 
Pituitary Dwarfism with Normal Immunoreactive Growth Hormone and Low Somatomedin 42
Short Stature Due to Growth Hormone Qualitative Anomaly 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM46 262650
ICD10 via Orphanet27 E23.0

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 Syndrome21 23 GH1

Anatomical Context for Kowarski Syndrome

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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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Variations for Kowarski Syndrome

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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:

7
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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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
  • Proteins
  • Kits and Assays

Sources for Kowarski Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet