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Familial partial lipodystrophy type 2

disorder
SNOMED 715439000CUI C1720860

Overview

Familial partial lipodystrophy type 2 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.

Constrictive median neuropathy
Always present (100%)HP:0012185
Glucose intolerance
Always present (100%)HP:0001952
Hyperplasia of facial adipose tissue
Always present (100%)HP:0000287
Insulin-resistant diabetes
Always present (100%)HP:0000831
Muscle pain with exercise
Always present (100%)HP:0003738
Aplasia/Hypoplasia of the skin
Very frequent (80-99%)HP:0008065
Atrophy of fat
Very frequent (80-99%)HP:0100578
Body fails to respond to insulin
Very frequent (80-99%)HP:0000855
Diabetes mellitus
Very frequent (80-99%)HP:0000819
Enlarged liver
Very frequent (80-99%)HP:0002240
Hyperglycemia
Very frequent (80-99%)HP:0003074
Hypertrophic muscles
Very frequent (80-99%)HP:0003712
Inability to make and keep healthy fat tissue
Very frequent (80-99%)HP:0009125
Increased triglycerides
Very frequent (80-99%)HP:0002155
Loss of truncal subcutaneous adipose tissue
Very frequent (80-99%)HP:0009002
Prominent veins
Very frequent (80-99%)HP:0001015
Round facies
Very frequent (80-99%)HP:0000311
Xanthomatosis
Very frequent (80-99%)HP:0000991
Abnormal nail morphology
Frequent (30-79%)HP:0001597
Acute pancreatitis
Frequent (30-79%)HP:0001735
Alanine aminotransferase increased
Frequent (30-79%)HP:0031964
Albuminuria
Frequent (30-79%)HP:0012592
Atherosclerotic cardiovascular disease
Frequent (30-79%)HP:0002621
Cobb angle greater than ten degrees
Frequent (30-79%)HP:0002650
Decreased HDL cholesterol concentration
Frequent (30-79%)HP:0003233
Elevated CRP
Frequent (30-79%)HP:0011227
Elevated glycated haemoglobin
Frequent (30-79%)HP:0040217
Elevated serum aspartate aminotransferase
Frequent (30-79%)HP:0031956
Elevated serum cholesterol
Frequent (30-79%)HP:0003124
High blood pressure
Frequent (30-79%)HP:0000822

Related Conditions

Autosomal dominant hereditary disorder(parent)
Familial lipodystrophy of limbs AND/OR trunk(parent)
Connective tissue hereditary disorder(parent)
Hereditary disorder of the integument(parent)

Quick Facts

SNOMED CT
715439000
UMLS CUI
C1720860
Fully Specified Name
Familial partial lipodystrophy type 2 (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.