Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare <i>PIK3CA</i>-related overgrowth syndrome disease characterized by segmental and progressive overgrowth, predominantly involving the adipose tissue, or a mixture of adipose and fibrous tissue, with variable involvement of subcutaneous and muscular tissue, as well as skeletal overgrowth. Overgrowth severity and range is highly variable, although frequently it is asymmetric and disproportionate, it affects lower extremities more than the upper ones, and progresses in a distal to proximal pattern. Congenital overgrowth is typically associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | |
| fr | Syndrome de croissance segmentaire progressive avec hyperplasie fibroadipeuse | |
| de | Segmental-progressives Großwuchs-Syndrom mit fibroadipöser Hyperplasie | |
| es | Síndrome de sobrecrecimiento segmentario progresivo con hiperplasia fibroadiposa | |
| it | Sindrome da iperaccrescimento segmentale progressivo con iperplasia fibroadiposa | |
| nl | Segmentaal progressief overgroeisyndroom met fibroadipose hyperplasie | |
| pt | Síndrome de sobrecrescimento progressivo segmentar com hiperplasia fibroadiposa | |
| pl | Zespół odcinkowego przerostu postępującago z hiperplazją włóknisto-tłuszczową | |
| cs | Segmentální progresivní syndrom nadměrného vzrůstu s fibroadipózní hyperplázií | |
| uk | Синдром сегментарного прогресуючого розростання з фіброадипозною гіперплазією | |
| zh | 节段进行性过度生长综合征伴纤维脂肪增生 | |
| tr | Fibroadipoz hiperplazi ile seyreden segmental ilerleyici aşırı büyüme sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.3 | NTBT | attributed | validated |
| MONDO | 0017812 | E | validated | |
| UMLS | C5192432 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:530313PIK3CA-related overgrowth spectrum disorder
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PIK3CA | Disease-causing somatic mutation(s) in | Assessed | HGNC:8975 | ENSG00000121879 | 171834 | 3q26.32 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | 22729222[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | 22729222[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
14 annotations · validated 2024-02-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0001548 | Overgrowth | |
| Frequent (79-30%) | ||
| HP:0025104 | Capillary malformation | |
| HP:0100774 | Hyperostosis | |
| HP:0009126 | Increased adipose tissue | |
| HP:0100578 | Lipoatrophy | |
| HP:0012032 | Lipoma | |
| HP:0011276 | Vascular skin abnormality | |
| Occasional (29-5%) | ||
| HP:0002019 | Constipation | |
| HP:0012725 | Cutaneous syndactyly | |
| HP:0010816 | Epidermal nevus | |
| HP:0030424 | Epididymal cyst | |
| HP:0000034 | Hydrocele testis | |
| HP:0100559 | Lower limb asymmetry | |
| HP:0010442 | Polydactyly | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 22729222[PMID]_23946963[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/314662
- This record as JSON: /data/d/314662.json