MCID: KWR001
MIFTS: 20

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 51 47 24 53 69 26 12 67
Pituitary Dwarfism with Normal Immunoreactive Growth Hormone and Low Somatomedin 47 69
Biodefective Growth Hormone 47 69
 
Short Stature Due to Growth Hormone Qualitative Anomaly 53
Kwks 69

Characteristics:

Orphanet epidemiological data:

53
kowarski syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

63
kowarski syndrome:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 262650
Orphanet53 ORPHA629
ICD10 via Orphanet30 E23.0
MedGen36 C1849779
MeSH38 D004393

Summaries for Kowarski Syndrome

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UniProtKB/Swiss-Prot:69 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:51 Kowarski syndrome, or short stature associated with bioinactive growth hormone, is characterized clinically by normal... (262650) more...

Wikipedia:70 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

Human phenotypes related to Kowarski Syndrome:

 63
id Description HPO Frequency HPO Source Accession
1 pituitary dwarfism63 HP:0000839
2 abnormality of metabolism/homeostasis63 HP:0001939
3 delayed skeletal maturation63 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 Syndrome26 24 GH1

Anatomical Context for Kowarski Syndrome

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MalaCards organs/tissues related to Kowarski Syndrome:

35
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:

69
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)SNVPathogenicrs137853220GRCh37Chr 17, 61995269: 61995269
2GH1NM_000515.4(GH1): c.413A> G (p.Asp138Gly)SNVPathogenicrs137853221GRCh37Chr 17, 61995163: 61995163
3GH1NM_000515.4(GH1): c.236G> C (p.Cys79Ser)SNVPathogenicrs137853222GRCh37Chr 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet