FPLD3 - familial partial lipodystrophy type 3

disorder

SNOMED 1197745002CUI C1720861

Overview

FPLD3 - familial partial lipodystrophy type 3 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.

Atrophy of fat

Always present (100%)HP:0100578

Body fails to respond to insulin

Always present (100%)HP:0000855

High blood pressure

Always present (100%)HP:0000822

Hyperinsulinemia

Always present (100%)HP:0000842

Inability to make and keep healthy fat tissue

Always present (100%)HP:0009125

NIDDM

Always present (100%)HP:0005978

Aplasia/Hypoplasia of the skin

Very frequent (80-99%)HP:0008065

Diabetes mellitus

Very frequent (80-99%)HP:0000819

Enlarged liver

Very frequent (80-99%)HP:0002240

Increased triglycerides

Very frequent (80-99%)HP:0002155

Insulin-resistant diabetes

Very frequent (80-99%)HP:0000831

Loss of subcutaneous adipose tissue from extremities

Very frequent (80-99%)HP:0003635

Xanthomatosis

Very frequent (80-99%)HP:0000991

Decreased HDL cholesterol concentration

Frequent (30-79%)HP:0003233

Hyperglycemia

Frequent (30-79%)HP:0003074

Hypertrophic muscles

Frequent (30-79%)HP:0003712

Plaque build-up in arteries

Frequent (30-79%)HP:0002621

Previous menstrual periods stop

Frequent (30-79%)HP:0000869

Thin skin

Frequent (30-79%)HP:0000963

Abnormality of skeletal muscle fiber size

Occasional (5-29%)HP:0012084

Acanthosis nigricans

Occasional (5-29%)HP:0000956

Calf muscle pseudohypertrophy

Occasional (5-29%)HP:0003707

Cardiac insufficiency

Occasional (5-29%)HP:0001635

Cardiomyopathy, hypertrophic

Occasional (5-29%)HP:0001639

Decreased amount of facial adipose tissue

Occasional (5-29%)HP:0000292

Fatty liver

Occasional (5-29%)HP:0001397

Generalized hirsutism

Occasional (5-29%)HP:0002230

Hyperuricaemia

Occasional (5-29%)HP:0002149

Large spleen

Occasional (5-29%)HP:0001744

Light or infrequent menstrual periods

Occasional (5-29%)HP:0000876

Related Conditions

Autosomal dominant hereditary disorder(parent)

Connective tissue hereditary disorder(parent)

Hereditary disorder of the integument(parent)

Familial lipodystrophy of limbs AND/OR trunk(parent)

Hereditary disorder of endocrine system(parent)

Quick Facts

SNOMED CT: 1197745002
UMLS CUI: C1720861
Fully Specified Name: Peroxisome proliferator activated receptor gamma-related familial partial 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.