FPLD6 - familial partial lipodystrophy type 6

disorder

SNOMED 1197751007CUI C4014869

Overview

FPLD6 - familial partial lipodystrophy type 6 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.

Body fails to respond to insulin

Always present (100%)HP:0000855

Cavus foot

Always present (100%)HP:0001761

Inability to make and keep healthy fat tissue

Always present (100%)HP:0009125

Increased fat around the neck

Always present (100%)HP:0000468

Loss of subcutaneous adipose tissue from extremities

Always present (100%)HP:0003635

Muscle wasting

Always present (100%)HP:0003202

Abnormality of the labia majora

Very frequent (80-99%)HP:0012881

Acanthosis nigricans

Very frequent (80-99%)HP:0000956

Decreased adiponectin level

Very frequent (80-99%)HP:0030685

Decreased serum leptin

Very frequent (80-99%)HP:0003292

Elevated circulating creatine phosphokinase

Very frequent (80-99%)HP:0003236

Enlarged liver

Very frequent (80-99%)HP:0002240

Fatty liver

Very frequent (80-99%)HP:0001397

Hypertrophic muscles

Very frequent (80-99%)HP:0003712

Increased intraabdominal fat

Very frequent (80-99%)HP:0008993

Increased triglycerides

Very frequent (80-99%)HP:0002155

Insulin-resistant diabetes

Very frequent (80-99%)HP:0000831

Light or infrequent menstrual periods

Very frequent (80-99%)HP:0000876

Loss of fat tissue below the skin in gluts

Very frequent (80-99%)HP:0009017

Sclerocystic ovaries

Very frequent (80-99%)HP:0000147

Difficulty walking up stairs

Frequent (30-79%)HP:0003551

High blood pressure

Frequent (30-79%)HP:0000822

Hyperlipidemia

Frequent (30-79%)HP:0003077

Hypopigmentation of the skin

Frequent (30-79%)HP:0001010

Increased lumbar lordosis

Frequent (30-79%)HP:0002938

Lower limb muscle weakness

Frequent (30-79%)HP:0007340

Muscle weakness

Frequent (30-79%)HP:0001324

Myopathy

Frequent (30-79%)HP:0003198

Proximal muscle weakness in lower limbs

Frequent (30-79%)HP:0008994

Proximal muscle weakness in upper limbs

Frequent (30-79%)HP:0008997

Related Conditions

Connective tissue hereditary disorder(parent)

Hereditary disorder of endocrine system(parent)

Hereditary disorder of the integument(parent)

Familial lipodystrophy of limbs AND/OR trunk(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 1197751007
UMLS CUI: C4014869
Fully Specified Name: Lipase E, hormone sensitive type-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.