Familial partial lipodystrophy, Köbberling type
Synonyms: FPLD1 · Familial partial lipodystrophy type 1
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
Familial partial lipodystrophy, Köbberling type, is a very rare form of familial partial lipodystrophy (FPLD) of unknown etiology characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be autosomal dominant.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial partial lipodystrophy, Köbberling type | FPLD1 · Familial partial lipodystrophy type 1 |
| fr | Lipodystrophie partielle familiale type Köbberling | LDPF1 · Lipodystrophie partielle familiale type 1 |
| de | Lipodystrophie, familiäre partielle, Typ Köbberling | |
| es | Lipodistrofia parcial familiar tipo Köbberling | FPLD1 · Lipodistrofia familiar parcial tipo 1 |
| it | Lipodistrofia parziale familiare, tipo Köbberling | FPLD1 · Lipodistrofia parziale familiare, tipo 1 |
| nl | Familiale partiële lipodystrofie, Köbberling-type | FPLD1 · Familiale partiële lipodystrofie type 1 |
| pt | Lipodistrofia parcial familiar, tipo Köbberling | FPLD1 · Lipodistrofia parcial familiar tipo 1 |
| pl | Rodzinna lipodystrofia częściowa, typ Köbberlinga | FplD1 · Rodzinna lipodystrofia częściowa typu 1 |
| cs | Familiární parciální lipodystrofie, Köbberlingův typ | FPLD1 · Familiární parciální lipodystrofie, typ 1 |
| uk | Сімейна часткова ліподистрофія, тип Кебберлінга | Сімейна часткова ліподистрофія типу 1 · FPLD1 |
| zh | 家族性部分脂肪营养障碍，K÷bberling 型 | 家族性部分性脂肪营养不良１型 |
| tr | Ailesel kısmi lipodistrofi, Köbberling tipi | FPLD1 · Ailesel kısmi lipodistrofi tip 1 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608600 | E | validated | |
| ICD-10 | E88.1 | NTBT | attributed | validated |
| ICD-11 | 5A44 | NTBT | index | validated |
| MONDO | 0012072 | E | validated | |
| UMLS | C1720859 | E | validated | |
| GARD | 12598 | 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 (2):
- ORPHA:98306Familial partial lipodystrophy
rare genetic diseases; rare skin diseases; rare endocrine diseases - ORPHA:300763Laminopathy with lipodystrophy
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LMNA | Candidate gene tested in | Not yet assessed | HGNC:6636 | ENSG00000160789 | 150330 | 1q22 | lamin A/C | 15298354[PMID]_18041775[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 cases | Worldwide | Case(s) | Validated | 16409151[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
12 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000819 | Diabetes mellitus | |
| HP:0000842 | Hyperinsulinemia | |
| HP:0000822 | Hypertension | |
| HP:0000855 | Insulin resistance | |
| HP:0100578 | Lipoatrophy | |
| Frequent (79-30%) | ||
| HP:0001397 | Hepatic steatosis | |
| HP:0002240 | Hepatomegaly | |
| HP:0000147 | Polycystic ovaries | |
| HP:0000991 | Xanthomatosis | |
| Occasional (29-5%) | ||
| HP:0000956 | Acanthosis nigricans | |
| HP:0001677 | Coronaryartery atherosclerosis | |
| HP:0001733 | Pancreatitis | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 12766116[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79084
- This record as JSON: /data/d/79084.json