Details of Disease

General Information of Disease (ID: DISU0GJP)

Disease Name Short stature due to partial GHR deficiency
Synonyms
Growth hormone, insensitivity to, partial; increased responsiveness to Growth hormone; growth hormone insensitivity, partial; Growth hormone deficiency, isolated, partial; GHIP; short stature due to partial growth hormone receptor deficiency
Definition
Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone.
Disease Hierarchy
DISI019B: Pituitary dwarfism
DISHEQ1Z: Growth hormone insensitivity syndrome
DISU0GJP: Short stature due to partial GHR deficiency
Disease Identifiers
MONDO ID
MONDO_0011420
MESH ID
C565805
UMLS CUI
C1858656
OMIM ID
604271
MedGen ID
346958
Orphanet ID
314802

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GHR TTKMAZ6 Strong Autosomal dominant [1]
GHSR TTWDC17 Strong Genetic Variation [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GHR OT8WUWMU Strong Autosomal dominant [1]
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References

1 Functional characterization of truncated growth hormone (GH) receptor-(1-277) causing partial GH insensitivity syndrome with high GH-binding protein. J Clin Endocrinol Metab. 1999 Mar;84(3):1011-6. doi: 10.1210/jcem.84.3.5566.
2 Recessive isolated growth hormone deficiency and mutations in the ghrelin receptor.J Clin Endocrinol Metab. 2009 Nov;94(11):4334-41. doi: 10.1210/jc.2009-1327. Epub 2009 Sep 29.