MCID: KWR001
MIFTS: 21

Kowarski Syndrome malady

Categories: Genetic diseases, Rare diseases, Endocrine diseases, Immune diseases

Aliases & Classifications for Kowarski Syndrome

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Aliases & Descriptions for Kowarski Syndrome:

Name: Kowarski Syndrome 50 46 23 52 68 25 12 66
Pituitary Dwarfism with Normal Immunoreactive Growth Hormone and Low Somatomedin 46 68
Biodefective Growth Hormone 46 68
 
Short Stature Due to Growth Hormone Qualitative Anomaly 52
Kwks 68

Characteristics:

Orphanet epidemiological data:

52
kowarski syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

62
kowarski syndrome:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 262650
Orphanet52 ORPHA629
ICD10 via Orphanet29 E23.0
MedGen35 C1849779
MeSH37 D004393

Summaries for Kowarski Syndrome

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UniProtKB/Swiss-Prot:68 Kowarski syndrome: A syndrome clinically characterized by short stature associated with bioinactive growth hormone, normal or slightly increased growth hormone secretion, pathologically low insulin-like growth factor 1 levels, and normal catch-up growth on growth hormone replacement therapy.

MalaCards based summary: Kowarski Syndrome, is also known as pituitary dwarfism with normal immunoreactive growth hormone and low somatomedin, and has symptoms including pituitary dwarfism, abnormality of metabolism/homeostasis and delayed skeletal maturation. An important gene associated with Kowarski Syndrome is GH1 (Growth Hormone 1). Affiliated tissues include pituitary and bone.

OMIM:50 Kowarski syndrome, or short stature associated with bioinactive growth hormone, is characterized clinically by normal... (262650) more...

Wikipedia:69 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 pituitary dwarfism HP:0000839
2 abnormality of metabolism/homeostasis HP:0001939
3 delayed skeletal maturation HP:0002750

Drugs & Therapeutics for Kowarski Syndrome

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Interventional clinical trials:

Search ClinicalTrials, 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 Syndrome25 23 GH1

Anatomical Context for Kowarski Syndrome

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MalaCards organs/tissues related to Kowarski Syndrome:

34
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:

68
id Symbol AA change Variation ID SNP ID
1GH1p.Arg103CysVAR_015809rs137853220
2GH1p.Asp138GlyVAR_015813rs137853221

Clinvar genetic disease variations for Kowarski Syndrome:

5
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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GO Terms for genes affiliated with Kowarski Syndrome

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Sources for Kowarski Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet