Overview
By MedlinePlus, National Library of Medicine
Courtesy of the National Library of Medicine. Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Adipose tissue loss
Very frequent (80-99%)HP:0008887
Body fails to respond to insulin
Very frequent (80-99%)HP:0000855
Enlarged liver
Very frequent (80-99%)HP:0002240
Hypertrophic muscles
Very frequent (80-99%)HP:0003712
Inability to make and keep healthy fat tissue
Very frequent (80-99%)HP:0009125
Diabetes mellitus
Frequent (30-79%)HP:0000819
Increased hair growth on body
Frequent (30-79%)HP:0000998
Increased triglycerides
Frequent (30-79%)HP:0002155
Poor school performance
Frequent (30-79%)HP:0001249
Acanthosis nigricans
Occasional (5-29%)HP:0000956
Bone cyst
Occasional (5-29%)HP:0012062
Cardiomyopathy, hypertrophic
Occasional (5-29%)HP:0001639
Chronic heart failure
Occasional (5-29%)HP:0001635
Cirrhosis
Occasional (5-29%)HP:0001394
Disproportionately large hands
Occasional (5-29%)HP:0001176
Early bone maturation
Occasional (5-29%)HP:0005616
Elevated total cholesterol
Occasional (5-29%)HP:0003124
Fatty liver
Occasional (5-29%)HP:0001397
Hyperinsulinemia
Occasional (5-29%)HP:0000842
Hyperplasia of supraorbital ridge
Occasional (5-29%)HP:0000336
Increased C-peptide level
Occasional (5-29%)HP:0030796
Increased size of mandible
Occasional (5-29%)HP:0000303
Lingual hyperplasia
Occasional (5-29%)HP:0000158
Long foot
Occasional (5-29%)HP:0001833
Low anterior hairline
Occasional (5-29%)HP:0000294
Low posterior hair line
Occasional (5-29%)HP:0002162
Malformation of face
Occasional (5-29%)HP:0001999
Mental and motor retardation
Occasional (5-29%)HP:0001263
Overgrowth of external genitalia
Occasional (5-29%)HP:0003247
Poor weight gain
Occasional (5-29%)HP:0001508
Quick Facts
- SNOMED CT
- 284449005
- UMLS CUI
- C0221032
- Fully Specified Name
- Congenital total lipodystrophy (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.