PLIN1-related familial partial lipodystrophy

disorder

SNOMED 783616005CUI C5191005

Overview

PLIN1-related familial partial lipodystrophy 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.

Acanthosis nigricans

Always present (100%)HP:0000956

Atrophy of fat

Always present (100%)HP:0100578

Body fails to respond to insulin

Always present (100%)HP:0000855

Fatty liver

Always present (100%)HP:0001397

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

Increased triglycerides

Always present (100%)HP:0002155

Insulin-resistant diabetes mellitus at puberty

Always present (100%)HP:0000877

Increased size of calf muscles

Very frequent (80-99%)HP:0008981

Infertility

Very frequent (80-99%)HP:0000789

Loss of fat tissue below the skin in gluts

Very frequent (80-99%)HP:0009017

Loss of subcutaneous adipose tissue from extremities

Very frequent (80-99%)HP:0003635

Reduced subcutaneous adipose tissue

Very frequent (80-99%)HP:0003758

Abnormal circulating hormone concentration

Frequent (30-79%)HP:0003117

Cerebral vascular events

Frequent (30-79%)HP:0001297

Hypertrophic muscles

Frequent (30-79%)HP:0003712

Insulin-resistant diabetes

Frequent (30-79%)HP:0000831

Light or infrequent menstrual periods

Frequent (30-79%)HP:0000876

Liver fibrosis

Frequent (30-79%)HP:0001395

Polycystic ovary disease

Frequent (30-79%)HP:0000147

Related Conditions

Connective tissue hereditary disorder(parent)

Autosomal dominant hereditary disorder(parent)

Insulin resistance(parent)

Familial lipodystrophy of limbs AND/OR trunk(parent)

Hereditary disorder of the integument(parent)

Hereditary disorder of endocrine system(parent)

Quick Facts

SNOMED CT: 783616005
UMLS CUI: C5191005
Fully Specified Name: Perilipin 1 related familial partial lipodystrophy (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 21

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.