Hemihyperplasia-multiple lipomatosis syndrome
Synonyms: HHML
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Childhood
- Status
- active
Hemihyperplasia-multiple lipomatosis syndrome is a rare, genetic overgrowth syndrome characterized by non- progressive, asymmetrical, moderate hemihyperplasia (frequently affecting the limbs) associated with slow growing, painless, multiple, recurrent, subcutaneous lipomatous masses distributed throughout entire body (in particular back, torso, extremities, fingers, axillae). Superficial vascular malformations may also be associated. Increased risk of intra-abdominal embryonal malignancies may be associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hemihyperplasia-multiple lipomatosis syndrome | HHML |
| fr | Syndrome de la lipomatose multiple-hémihyperplasie | = en |
| de | Hemihyperplasie-multiples Lipomatosis-Syndrom | = en |
| es | Síndrome de hemihiperplasia-lipomatosis múltiple | = en |
| it | Sindrome da emi-iperplasia e lipomatosi multipla | = en |
| nl | Hemihyperplasie - multipele lipomatose-syndroom | = en |
| pt | Síndrome de lipomatose múltipla-hemihiperplasia | |
| pl | Zespół przerost połowiczy-mnoga tłuszczakowatość | = en |
| cs | Syndrom zahrnující hemihyperplázii a mnohočetnou lipomatózu | = en |
| uk | Синдром гемігіперплазії-множинного ліпоматозу | = en |
| zh | 偏侧增生-多发性脂肪过多症综合征 | = en |
| tr | Hemihiplazi-çoklu lipomatoz sendromu | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.3 | NTBT | attributed | validated |
| MONDO | 0017177 | E | validated | |
| UMLS | C4749904 | 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 (8):
- ORPHA:183487Genetic skin tumor or hamartoma
rare genetic diseases - ORPHA:728642Genetic syndrome or malformation associated with head and neck malformations
rare genetic diseases - ORPHA:98196Malformation syndrome with hamartosis
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:530313PIK3CA-related overgrowth spectrum disorder
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:728584PIK3CA-related overgrowth spectrum disorder with vascular malformation
rare developmental anomalies during embryogenesis; rare circulatory system diseases - ORPHA:458830Rare capillary malformation with associated anomalies
rare developmental anomalies during embryogenesis; rare genetic diseases; rare circulatory system diseases - ORPHA:79386Rare skin tumor or hamartoma
rare skin diseases; rare neoplastic diseases - ORPHA:156237Syndrome or malformation associated with head and neck malformations
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases; rare surgical maxillo-facial 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 | 24782230[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | 9781913[PMID]_20058713[PMID]_19438675[PMID]_20105568[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
19 annotations · validated 2017-05-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0001548 | Overgrowth | |
| Frequent (79-30%) | ||
| HP:0100659 | Abnormality of the cerebral vasculature | |
| HP:0004099 | Macrodactyly | |
| Occasional (29-5%) | ||
| HP:0010714 | 2-4 toe syndactyly | |
| HP:0002624 | Abnormal venous morphology | |
| HP:0100763 | Abnormality of the lymphatic system | |
| HP:0000105 | Enlarged kidney | |
| HP:0001829 | Foot polydactyly | |
| HP:0000034 | Hydrocele testis | |
| HP:0040009 | Hyperparakeratosis | |
| HP:0100578 | Lipoatrophy | |
| HP:0008551 | Microtia | |
| HP:0001012 | Multiple lipomas | |
| HP:0003764 | Nevus | |
| HP:0012887 | Ovarian serous cystadenoma | |
| HP:0002650 | Scoliosis | |
| HP:0001051 | Seborrheic dermatitis | |
| HP:0100585 | Telangiectasia of the skin | |
| Very rare (<4-1%) | ||
| HP:0002667 | Nephroblastoma | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 24782230[PMID]_25557259[PMID]_25915946[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/276280
- This record as JSON: /data/d/276280.json