Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
disease diseaseOn this page
Summary
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia (MONDO:0017812) is a disease. A subtype of PIK3CA-related overgrowth spectrum — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
- Phenotypes (HPO): 14
Clinical features
Epidemiology
Prevalence records
2 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Cases/families | 10 | Worldwide | Validated | |
| Point prevalence | <1 / 1 000 000 | Worldwide | Validated |
Signs & symptoms
Clinical features (HPO)
14 HPO clinical features (Orphanet curated; top 14 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001548 | Overgrowth | Obligate (100%) |
| HP:0009126 | Increased adipose tissue | Frequent (30-79%) |
| HP:0011276 | Vascular skin abnormality | Frequent (30-79%) |
| HP:0012032 | Lipoma | Frequent (30-79%) |
| HP:0025104 | Capillary malformation | Frequent (30-79%) |
| HP:0100578 | Lipoatrophy | Frequent (30-79%) |
| HP:0100774 | Hyperostosis | Frequent (30-79%) |
| HP:0000034 | Hydrocele testis | Occasional (5-29%) |
| HP:0002019 | Constipation | Occasional (5-29%) |
| HP:0010442 | Polydactyly | Occasional (5-29%) |
| HP:0010816 | Epidermal nevus | Occasional (5-29%) |
| HP:0012725 | Cutaneous syndactyly | Occasional (5-29%) |
| HP:0030424 | Epididymal cyst | Occasional (5-29%) |
| HP:0100559 | Lower limb asymmetry | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | segmental progressive overgrowth syndrome with fibroadipose hyperplasia |
| Mondo ID | MONDO:0017812 |
| Orphanet | 314662 |
| UMLS | C5192432 |
| MedGen | 1673986 |
| GARD | 0021384 |
| Is cancer (heuristic) | no |
Disease family
This is a subtype of PIK3CA-related overgrowth spectrum. 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 › disorder of development or morphogenesis › overgrowth syndrome › PIK3CA-related overgrowth spectrum › segmental progressive overgrowth syndrome with fibroadipose hyperplasia
Related subtypes (4): megalencephaly-capillary malformation-polymicrogyria syndrome, CLOVES syndrome, Cowden syndrome 5, megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
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.