AKT2-related familial partial lipodystrophy
Synonyms: AKT2-related FPLD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy and severe insulin resistance in the liver and peripheral tissues, hyperinsulinemia, and diabetes mellitus. Acanthosis nigricans and hypertension have been reported in association.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | AKT2-related familial partial lipodystrophy | AKT2-related FPLD |
| fr | Lipodystrophie partielle familiale associée à AKT2 | LDPF associée à AKT2 |
| de | Lipodystrophie, familiäre partielle, durch AKT2-Genmutation | AKT2-abhängige FPLD · FPLD1 |
| es | Lipodistrofia parcial familiar asociada a AKT2 | FPLD asociada a AKT2 |
| it | Lipodistrofia familiare parziale AKT2-correlata | FPLD AKT2-correlata |
| nl | AKT2-gerelateerde familiale partiële lipodystrofie | AKT2-gerelateerde FPLD |
| pt | Lipodistrofia parcial familiar AKT2-relacionada | |
| pl | Rodzinna lipodystrofia częściowa zależna od AKT2 | FplD zależna od AKT2 |
| cs | AKT2-vázaná familiární parciální lipodystrofie | AKT2-vázaná FPLD |
| uk | Сімейна часткова ліподистрофія, повязана з AKT2 | FPLD, повязана з AKT2 |
| zh | AKT2相关性家族性部分脂肪营养障碍 | AKT2相关性家族性FPLD |
| tr | AKT2-ilişkili ailesel kısmi lipodistrofi | AKT2-ilişkili FPLD |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E88.1 | NTBT | attributed | validated |
| ICD-11 | 5A44 | NTBT | index | validated |
| MONDO | 0019192 | E | validated | |
| UMLS | C5680134 | 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:98306Familial partial lipodystrophy
rare genetic diseases; rare skin diseases; rare endocrine diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| AKT2 | Disease-causing germline mutation(s) in | Assessed | HGNC:392 | ENSG00000105221 | 164731 | 19q13.2 | AKT serine/threonine kinase 2 | 16409151[PMID]_21865368[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 families | Worldwide | Family(ies) | 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 2017-01-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0000855 | Insulin resistance | |
| HP:0009125 | Lipodystrophy | |
| Very frequent (99-80%) | ||
| HP:0000956 | Acanthosis nigricans | |
| HP:0030685 | Decreased adiponectin level | |
| HP:0003292 | Decreased serum leptin | |
| HP:0001397 | Hepatic steatosis | |
| HP:0002240 | Hepatomegaly | |
| HP:0002155 | Hypertriglyceridemia | |
| HP:0008993 | Increased intraabdominal fat | |
| Frequent (79-30%) | ||
| HP:0000831 | Insulin-resistant diabetes mellitus | |
| HP:0000876 | Oligomenorrhea | |
| HP:0000147 | Polycystic ovaries | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 15166380[PMID]_17327441[PMID]_17554339[PMID]_21865368[PMID]_22748602[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79085
- This record as JSON: /data/d/79085.json