Autosomal semi-dominant severe lipodystrophic laminopathy

disorder

SNOMED 1197747005CUI C5680783

Overview

Autosomal semi-dominant severe lipodystrophic laminopathy 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.

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

Decreased projection of mandible

Very frequent (80-99%)HP:0000347

Decreased width of nasal dorsum

Very frequent (80-99%)HP:0000418

Diabetes mellitus

Very frequent (80-99%)HP:0000819

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

Increased triglycerides

Very frequent (80-99%)HP:0002155

Minimal subcutaneous fat

Very frequent (80-99%)HP:0003717

Premature graying of the hair

Very frequent (80-99%)HP:0002216

Progeroid facial appearance

Very frequent (80-99%)HP:0005328

Reduced subcutaneous adipose tissue

Very frequent (80-99%)HP:0003758

Xanthomatosis

Very frequent (80-99%)HP:0000991

Acanthosis nigricans

Frequent (30-79%)HP:0000956

Accelerated plaque build-up in arteries

Frequent (30-79%)HP:0004943

Acroosteolysis of distal phalanges (feet)

Frequent (30-79%)HP:0001870

Decreased adiponectin level

Frequent (30-79%)HP:0030685

Decreased HDL cholesterol concentration

Frequent (30-79%)HP:0003233

Decreased serum leptin

Frequent (30-79%)HP:0003292

Fatty liver

Frequent (30-79%)HP:0001397

Increased facial adipose tissue

Frequent (30-79%)HP:0000287

Increased fat around the neck

Frequent (30-79%)HP:0000468

Increased intraabdominal fat

Frequent (30-79%)HP:0008993

Loss of subcutaneous adipose tissue from extremities

Frequent (30-79%)HP:0003635

Muscle hypertrophy of the lower extremities

Frequent (30-79%)HP:0008968

Nail disease

Frequent (30-79%)HP:0001597

Osteolytic defects of the phalanges of the hand

Frequent (30-79%)HP:0009771

Plaque build-up in arteries

Frequent (30-79%)HP:0002621

Related Conditions

Autosomal hereditary disorder(parent)

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)

Insulin resistance(parent)

Quick Facts

SNOMED CT: 1197747005
UMLS CUI: C5680783
Fully Specified Name: Autosomal semi-dominant severe lipodystrophic laminopathy (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.