Obesity due to prohormone convertase I deficiency

disorder

SNOMED 722053001CUI C4302878

Overview

Obesity due to prohormone convertase I deficiency 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.

Increased fat tissue

Always present (100%)HP:0009126

Obesity

Always present (100%)HP:0001513

Increased appetite

Very frequent (80-99%)HP:0002591

Central adrenal insufficiency

Frequent (30-79%)HP:0011734

Ginger hair colour

Frequent (30-79%)HP:0002297

Hypopigmentation of the skin

Frequent (30-79%)HP:0001010

Slowed or blocked flow of bile from liver

Frequent (30-79%)HP:0001396

Truncal obesity apparent in childhood

Frequent (30-79%)HP:0008915

Acanthosis nigricans

Occasional (5-29%)HP:0000956

Decreased response to growth hormone stimulation test

Occasional (5-29%)HP:0000824

Delayed puberty

Occasional (5-29%)HP:0000823

Growth failure

Occasional (5-29%)HP:0001510

Hyperinsulinemia

Occasional (5-29%)HP:0000842

Hypoglycemic seizures

Occasional (5-29%)HP:0002173

Pituitary gonadotropin deficiency

Occasional (5-29%)HP:0008213

Poor weight gain

Occasional (5-29%)HP:0001508

Retarded ossification

Occasional (5-29%)HP:0002750

TSH deficient hypothyroidism

Occasional (5-29%)HP:0008245

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Genetic obesity disorder(parent)

Quick Facts

SNOMED CT: 722053001
UMLS CUI: C4302878
Fully Specified Name: Obesity due to prohormone convertase I deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 18

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.