Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome
Synonyms: PLAAT3-related lipodystrophy syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Status
- active
A rare primary lipodystrophy characterized by partial to generalized loss of fat, associated with metabolic complications and variable neurological manifestations. Most patients present with lipoatrophy of the limbs and trunk, associated with muscular hypertrophy. Metabolic complications include insulin-resistant diabetes mellitus, hypertriglyceridemia, and hepatic steatosis. Major neurological involvement is characterized by demyelinating polyneuropathy. Intellectual disability has also been reported in some patients. Females may present with hirsutism, hyperandrogenism, and polycystic ovary syndrome, while males present with gynecomastia.
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome | PLAAT3-related lipodystrophy syndrome |
| fr | Syndrome de lipodystrophie-neuropathie périphérique sensitivo-motrice démyélinisante | Syndrome de lipodystrophie associé à PLAAT3 |
| de | Lipodystrophie-demyelinisierende periphere sensomotorische Neuropathie-Syndrom | Lipodystrophie, familiäre partielle, Typ 9 · Lipodystrophie-Syndrom, PLAAT3-assoziiertes |
| es | Síndrome de lipodistrofia-neuropatía periférica sensitivo-motora desmielinizante | Síndrome de lipodistrofia asociada a PLAAT3 |
| it | Sindrome lipodistrofia-neuropatia sensitivo-motoria periferica demielinizzante | Sindrome da lipodistrofia correlata a PLAAT3 |
| nl | Lipodystrofie - demyeliniserende perifere sensorimotorische neuropathie-syndroom | PLAAT3-gerelateerde lipodystrofie-syndroom |
| pt | Síndrome de lipodistrofia-neuropatia desmielinizante sensitivo-motora periférica | Síndrome de lipodistrofia PLAAT3-relacionada |
| pl | Zespół lipodystrofii i obwodowej demielinizacyjnej neuropatii czuciowo-ruchowej | = en |
| cs | Syndrom zahrnující lipodystrofii a demyelinizační periferní senzoricko-motorickou neuropatii | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relationE 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 (3):
- ORPHA:140459Autosomal recessive hereditary demyelinating motor and sensory neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:98305Genetic lipodystrophy
rare genetic diseases; rare skin diseases; rare endocrine diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PLAAT3 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:17825 | ENSG00000176485 | 613867 | 11q12.3-q13.1 | phospholipase A and acyltransferase 3 | 37919452[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 37919452[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 37919452[PMID]_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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/686999
- This record as JSON: /data/d/686999.json