ORPHA:2398
Multiple symmetric lipomatosis
Synonyms: Cephalothoracic lipodystrophy · Familial benign cervical lipomatosis · Launois-Bensaude lipomatosis · Madelung disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, Not applicable
- Age of onset
- Adolescent, Adult, Childhood, Elderly
- Status
- active
A rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck, with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Multiple symmetric lipomatosis | Cephalothoracic lipodystrophy · Familial benign cervical lipomatosis · Launois-Bensaude lipomatosis · Madelung disease |
| fr | Adénolipomatose symétrique à prédominance cervicale | Lipomatose cervicale bénigne familiale · Lipomatose de Launois-Bensaude · Lipomatose symetrique familiale · Maladie de Madelung |
| de | Lipomatose, multiple symmetrische | Launois-Bensaude-Syndrom · Lipomatose Typ Launois-Bensaude · Lipomatose, benigne familiäre zervikale · Lipomatose, benigne symmetrische · Madelung-Krankheit |
| es | Lipomatosis simétrica múltiple | Enfermedad de Madelung · Lipodistrofia cefalotorácica · Lipomatosis cervical familiar benigna · Lipomatosis de Launois-Bensaude |
| it | Lipomatosi simmetrica multipla | Lipodistrofia cefalotoracica · Lipomatosi cervicale familiare benigna · Lipomatosi di Launois-Bensaude · Malattia di Madelung |
| nl | Multipele symmetrische lipomatose | Cefalothoracale lipodystrofie · Familiale goedaardige cervicale lipomatose · Lipomatose van Launois-Bensaude · Meervoudige symmetrische lipomatose · Ziekte van Madelung |
| pt | Lipomatose simétrica múltipla | Adenolipomatose de Launois-Bensaude · Doença de Madelung · Lipomatose central não-encapsulada · Lipomatose cervical benigna familiar · Lipomatose simétrica familiar |
| pl | Mnoga tłuszczakowatość symetryczna | Choroba Madelunga · Lipodystrofia głowowo-piersiowa · Lipomatoza Launoisa i Bensaude'a · Rodzinna łagodna lipomatoza szyjna |
| cs | Mnohočetná symetrická lipomatóza | Cefalotorakální lipodystrofie · Benigní symetrická lipomatóza · Madelungova choroba · Launoisův-Bensaudeův syndrom · Launois-Bensaudeův syndrom |
| uk | Множинний симетричний ліпоматоз | Цефалоторакальна ліподистрофія · Сімейний доброякісний ліпоматоз шийки матки · Ліпоматоз Лануа-Бенсо · Хвороба Маделунга |
| zh | 多发对称性脂肪瘤病 | 家族性良性颈部脂肪瘤病 |
| tr | Çoklu simetrik lipomatoz | Madelung hastalığı · Launois-Bensaude lipomatozu · Sefalotorasik lipodistrofi · Ailesel selim servikal lipomatoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 151800 | E | validated | |
| ICD-10 | E88.8 | NTBT | inclusion | validated |
| ICD-11 | EF02.1 | NTBT | index | validated |
| MONDO | 0007908 | E | validated | |
| MeSH | D008069 | E | validated | |
| UMLS | C0023804 | E | validated | |
| GARD | 6957 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:183484Genetic subcutaneous tissue disorder
rare genetic diseases - ORPHA:79382Subcutaneous tissue disease
rare skin diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MFN2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:16877 | ENSG00000116688 | 608507 | 1p36.22 | mitofusin 2 | 26085578[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
| Point prevalence | 1-9 / 100 000 | 2 / 100 000 | Italy | Value and class | Validated | [EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
10 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0009124 | Abnormal adipose tissue morphology | |
| HP:0002829 | Arthralgia | |
| HP:0001387 | Joint stiffness | |
| HP:0001012 | Multiple lipomas | |
| Frequent (79-30%) | ||
| HP:0001288 | Gait disturbance | |
| HP:0002240 | Hepatomegaly | |
| HP:0000855 | Insulin resistance | |
| HP:0003401 | Paresthesia | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0001315 | Reduced tendon reflexes | |
Run the differential on the 4 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2398
- This record as JSON: /data/d/2398.json