ORPHA:2348
Familial partial lipodystrophy, Dunnigan type
Synonyms: Dunnigan syndrome · FPLD2 · Familial partial lipodystrophy type 2
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood, Elderly
- Status
- active
A rare, genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial partial lipodystrophy, Dunnigan type | Dunnigan syndrome · FPLD2 · Familial partial lipodystrophy type 2 |
| fr | Lipodystrophie partielle familiale de Dunnigan | Syndrome de Dunnigan · FPLD2 · Lipodystrophie partielle familiale type 2 |
| de | Lipodystrophie, familiäre partielle, Typ Dunnigan | Dunnigan-Syndrom · FPLD2 · Lipodystrophie, familiäre partielle, Typ 2 |
| es | Lipodistrofia parcial familiar tipo Dunnigan | FPLD2 · Lipodistrofia parcial familiar tipo 2 · Síndrome de Dunnigan |
| it | Lipodistrofia parziale familiare, tipo Dunnigan | FPLD2 · Lipodistrofia parziale familiare, tipo 2 · Sindrome di Dunnigan |
| nl | Familiale partiële lipodystrofie, Dunnigan-type | FPLD2 · Familiale partiële lipodystrofie type 2 · Syndroom van Dunnigan |
| pt | Lipodistrofia parcial familiar, tipo Dunnigan | Lipodistrofia parcial familiar tipo 2 · Síndrome Dunnigan |
| pl | Rodzinna lipodystrofia częściowa typu Dunnigana | Rodzinna lipodystrofia częściowa typu 2 · Zespół Dunnigana |
| cs | Familiární parciální lipodystrofie, Dunniganův typ | Dunniganuv syndrom · FPLD2 · Familiární parciální lipodystrofie, typ 2 · Dunniganův syndrom |
| uk | Сімейна часткова ліподистрофія, тип Даннігана | Синдром Даннігана · Сімейна часткова ліподистрофія 2 типу · FPLD2 |
| zh | 家族性局部脂肪代谢障碍Dunnigan 型 | 家族性局部脂肪代谢障碍2型 |
| tr | ailesel kısmi lipodistrofi, Dunnigan tipi | FPLD2 · Dunnigan sendromu · Ailesel kısmi lipodistrofi tip 2 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 151660 | E | validated | |
| ICD-10 | E88.1 | NTBT | attributed | validated |
| ICD-11 | 5A44 | NTBT | index | validated |
| MONDO | 0007906 | E | validated | |
| UMLS | C1720860 | E | validated | |
| GARD | 3126 | 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 (4):
- ORPHA:98306Familial partial lipodystrophy
rare genetic diseases; rare skin diseases; rare endocrine diseases - ORPHA:363245Genetic progeroid syndrome
rare genetic diseases - ORPHA:300763Laminopathy with lipodystrophy
rare genetic diseases - ORPHA:139033Progeroid syndrome
rare developmental anomalies during embryogenesis
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:137871OBSOLETE: Laminopathy type Decaudain-Vigouroux referred to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LMNA | Disease-causing germline mutation(s) in | Assessed | HGNC:6636 | ENSG00000160789 | 150330 | 1q22 | lamin A/C | 10739751[PMID]_10587585[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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.
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HPO phenotypes
34 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008065 | Aplasia/Hypoplasia of the skin | |
| HP:0000819 | Diabetes mellitus | |
| HP:0002240 | Hepatomegaly | |
| HP:0002155 | Hypertriglyceridemia | |
| HP:0000855 | Insulin resistance | |
| HP:0100578 | Lipoatrophy | |
| HP:0009125 | Lipodystrophy | |
| HP:0000311 | Round face | |
| HP:0003712 | Skeletal muscle hypertrophy | |
| HP:0000991 | Xanthomatosis | |
| Frequent (79-30%) | ||
| HP:0001597 | Abnormal nail morphology | |
| HP:0006288 | Advanced eruption of teeth | |
| HP:0002621 | Atherosclerosis | |
| HP:0003635 | Loss of subcutaneous adipose tissue in limbs | |
| HP:0000869 | Secondary amenorrhea | |
| HP:0000963 | Thin skin | |
| Occasional (29-5%) | ||
| HP:0005339 | Abnormality of complement system | |
| HP:0012084 | Abnormality of skeletal muscle fiber size | |
| HP:0000956 | Acanthosis nigricans | |
| HP:0100658 | Cellulitis | |
| HP:0001635 | Congestive heart failure | |
| HP:0001677 | Coronaryartery atherosclerosis | |
| HP:0006824 | Cranial nerve paralysis | |
| HP:0100607 | Dysmenorrhea | |
| HP:0100601 | Eclampsia | |
| HP:0002230 | Generalized hirsutism | |
| HP:0100820 | Glomerulopathy | |
| HP:0001397 | Hepatic steatosis | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0003326 | Myalgia | |
| HP:0003198 | Myopathy | |
| HP:0001733 | Pancreatitis | |
| HP:0000147 | Polycystic ovaries | |
| HP:0001744 | Splenomegaly | |
Run the differential on the 10 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2348
- This record as JSON: /data/d/2348.json