Autoinflammation, lipodystrophy and dermatosis syndrome

disorder

SNOMED 702449004CUI C1850568

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Arthralgias

Always present (100%)HP:0002829

Elevated C-reactive protein level

Always present (100%)HP:0011227

Erythema nodosum

Always present (100%)HP:0012219

Flexion contractures

Always present (100%)HP:0001371

Flexion deformity of finger

Always present (100%)HP:0012785

Inability to make and keep healthy fat tissue

Always present (100%)HP:0009125

Increased circulating interferon-gamma concentration

Always present (100%)HP:0030356

Increased circulating interleukin 6 concentration

Always present (100%)HP:0030783

Increased circulating interleukin 8 concentration

Always present (100%)HP:0033178

Increased serum IgA

Always present (100%)HP:0003261

Increased total IgG in blood

Always present (100%)HP:0003237

Intermittent fever

Always present (100%)HP:0001954

Skin plaque

Always present (100%)HP:0200035

Decreased body height

Very frequent (80-99%)HP:0004322

Increased liver function tests

Very frequent (80-99%)HP:0002910

Swollen fingers

Very frequent (80-99%)HP:0025131

Abdominal protuberance

Frequent (30-79%)HP:0001538

Basal ganglion calcification

Frequent (30-79%)HP:0002135

Cardiac arrhythmias

Frequent (30-79%)HP:0011675

Conjunctivitis

Frequent (30-79%)HP:0000509

Elevated sedimentation rate

Frequent (30-79%)HP:0003565

Enlarged liver

Frequent (30-79%)HP:0002240

Epididymitis

Frequent (30-79%)HP:0000031

Episcleritis

Frequent (30-79%)HP:0100534

Hypertrichosis

Frequent (30-79%)HP:0000998

Hypoalphalipoproteinemia

Frequent (30-79%)HP:0003233

Increased serum gamma globulin

Frequent (30-79%)HP:0010702

Large spleen

Frequent (30-79%)HP:0001744

Lingual hyperplasia

Frequent (30-79%)HP:0000158

Low intelligence

Frequent (30-79%)HP:0001249

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Hereditary disorder of immune system(parent)

Type I interferonopathy(parent)

Quick Facts

SNOMED CT: 702449004
UMLS CUI: C1850568
Fully Specified Name: Autoinflammation, lipodystrophy and dermatosis syndrome (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.