Details of Disease

General Information of Disease (ID: DISOSN3Q)

Disease Name Short stature due to GHSR deficiency
Synonyms growth hormone deficiency, isolated partial; GHDP; short stature due to growth hormone secretagogue receptor deficiency; ghrelin receptor deficiency
Definition
Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature (less than -2 SD). The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported.
Disease Hierarchy
DISFF2OX: Non-acquired pituitary hormone deficiency
DISOSN3Q: Short stature due to GHSR deficiency
Disease Identifiers
MONDO ID
MONDO_0014403
UMLS CUI
C4707848
MedGen ID
1633096
Orphanet ID
314811
SNOMED CT ID
766817004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GHSR TTWDC17 Moderate Semidominant [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GHSR OT1Y8ARK Moderate Semidominant [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.