Overview
Insulin receptor defect is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Cardiomyopathy, hypertrophic
Always present (100%)HP:0001639
Coarse face
Always present (100%)HP:0000280
Conjugated hyperbilirubinemia
Always present (100%)HP:0002908
Cystic ovaries
Always present (100%)HP:0000138
Elevated gamma-glutamyltransferase level
Always present (100%)HP:0030948
Enlarged vaginal lips
Always present (100%)HP:0000065
Growth delay as children
Always present (100%)HP:0008897
Hirsutism
Always present (100%)HP:0001007
Hydramnios
Always present (100%)HP:0001561
Hyperinsulinemia
Always present (100%)HP:0000842
Hypertrichosis
Always present (100%)HP:0000998
Hypoglycemic episodes
Always present (100%)HP:0001988
Increased C-peptide level
Always present (100%)HP:0030796
Left ventricular wall hypertrophy
Always present (100%)HP:0001712
Medullary nephrocalcinosis
Always present (100%)HP:0012408
Prominent clitoris
Always present (100%)HP:0008665
Prominent eyes
Always present (100%)HP:0000520
Prominent lips
Always present (100%)HP:0012471
Prominent nipples
Always present (100%)HP:0004405
Small for gestational age infant
Always present (100%)HP:0001511
Undergrowth
Always present (100%)HP:0001508
Abdominal swelling
Frequent (30-79%)HP:0003270
Acanthosis nigricans
Frequent (30-79%)HP:0000956
Enlarged kidney
Frequent (30-79%)HP:0000105
Enlarged liver
Frequent (30-79%)HP:0002240
Large spleen
Frequent (30-79%)HP:0001744
Rectum protrudes through anus
Frequent (30-79%)HP:0002035
Recurrent middle ear infection
Frequent (30-79%)HP:0000403
Adipose tissue loss
HP:0008887
Disproportionately large hands
HP:0001176
Related Conditions
Hereditary benign acanthosis nigricans with insulin resistance(child)
Extreme insulin resistance with acanthosis nigricans, hirsutism AND abnormal insulin receptors(child)
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome(child)
Disorder of endocrine receptor(parent)
Quick Facts
- SNOMED CT
- 10680005
- UMLS CUI
- C0271689
- Fully Specified Name
- Insulin receptor defect (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.