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 52 48 24 54 70 27 12 68
Pituitary Dwarfism with Normal Immunoreactive Growth Hormone and Low Somatomedin 48 70
Biodefective Growth Hormone 48 70
 
Short Stature Due to Growth Hormone Qualitative Anomaly 54
Kwks 70

Characteristics:

Orphanet epidemiological data:

54
kowarski syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

64
kowarski syndrome:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 262650
Orphanet54 ORPHA629
ICD10 via Orphanet31 E23.0
MedGen37 C1849779
MeSH39 D004393

Summaries for Kowarski Syndrome

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UniProtKB/Swiss-Prot:70 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:52 Kowarski syndrome, or short stature associated with bioinactive growth hormone, is characterized clinically by normal... (262650) more...

Wikipedia:71 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 & Phenotypes 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:

 64
id Description HPO Frequency HPO Source Accession
1 pituitary dwarfism64 HP:0000839
2 abnormality of metabolism/homeostasis64 HP:0001939
3 delayed skeletal maturation64 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 Syndrome27 24 GH1

Anatomical Context for Kowarski Syndrome

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MalaCards organs/tissues related to Kowarski Syndrome:

36
Pituitary, Bone

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:

70
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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet