Idiopathic localized lipodystrophy
diseaseOn this page
Summary
Idiopathic localized lipodystrophy (MONDO:0019554) is a disease. A subtype of localized lipodystrophy — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: (Worldwide) [Orphanet-validated]
- Phenotypes (HPO): 11
Clinical features
Signs & symptoms
Clinical features (HPO)
11 HPO clinical features (Orphanet curated; top 11 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0100578 | Lipoatrophy | Obligate (100%) |
| HP:0003758 | Reduced subcutaneous adipose tissue | Very frequent (80-99%) |
| HP:0007485 | Absence of subcutaneous fat | Frequent (30-79%) |
| HP:0000953 | Hyperpigmentation of the skin | Occasional (5-29%) |
| HP:0000989 | Pruritus | Occasional (5-29%) |
| HP:0001010 | Hypopigmentation of the skin | Occasional (5-29%) |
| HP:0010783 | Erythema | Occasional (5-29%) |
| HP:0011123 | Inflammatory abnormality of the skin | Occasional (5-29%) |
| HP:0012344 | Morphea | Very rare (<1-4%) |
| HP:0040189 | Scaling skin | Very rare (<1-4%) |
| HP:0100324 | Scleroderma | Very rare (<1-4%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | idiopathic localized lipodystrophy |
| Mondo ID | MONDO:0019554 |
| Orphanet | 90158 |
| UMLS | C0473566 |
| MedGen | 633314 |
| GARD | 0019127 |
| Is cancer (heuristic) | no |
Disease family
This is a subtype of localized lipodystrophy. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by developmental or physiological process › metabolic disease › lipodystrophy › localized lipodystrophy › idiopathic localized lipodystrophy
Related subtypes (4): centrifugal lipodystrophy, drug-induced localized lipodystrophy, panniculitis and localized lipodystrophy, pressure-induced localized lipoatrophy
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.