AKT serine/threonine kinase 2-related familial partial lipodystrophy

disorder

SNOMED 1197746001CUI C5680134

Overview

AKT serine/threonine kinase 2-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.

Body fails to respond to insulin

Always present (100%)HP:0000855

Inability to make and keep healthy fat tissue

Always present (100%)HP:0009125

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

Enlarged liver

Very frequent (80-99%)HP:0002240

Fatty liver

Very frequent (80-99%)HP:0001397

Increased intraabdominal fat

Very frequent (80-99%)HP:0008993

Increased triglycerides

Very frequent (80-99%)HP:0002155

Insulin-resistant diabetes

Frequent (30-79%)HP:0000831

Light or infrequent menstrual periods

Frequent (30-79%)HP:0000876

Polycystic ovary disease

Frequent (30-79%)HP:0000147

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: 1197746001
UMLS CUI: C5680134
Fully Specified Name: AKT serine/threonine kinase 2-related familial partial lipodystrophy (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 12

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.