Short stature due to partial GHR deficiency

Synonyms: GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL; GROWTH HORMONE INSENSITIVITY, PARTIAL; Growth hormone, insensitivity to, partial; Short stature, idiopathic, autosomal

Summary

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. [from ORDO]

Available tests

36 tests are in the database for this condition.

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Clinical tests (36 available)

Biochemical Genetics Tests

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Molecular Genetics Tests

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Associated genes Help
Genes reported to contribute to the condition.

GHR
Also known as: GHBP, GHIP, GHR
Summary: growth hormone receptor

Imported from Human Phenotype Ontology (HPO)

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Abnormality of the endocrine system
- Decreased serum insulin-like growth factor 1
  Decreased serum insulin-like growth factor 1
  - MedGen UID: 892792
  - Concept ID: C4072897
  - Finding: Finding
  Abnormality of the endocrine system
  See: Feature record | Search on this feature
Growth abnormality
- Short stature
  Short stature
  - MedGen UID: 87607
  - Concept ID: C0349588
  - Finding: Finding
  Growth abnormality
  See: Feature record | Search on this feature

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