ORPHA:280365
Autosomal semi-dominant severe lipodystrophic laminopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Semi-dominant
- Age of onset
- Adult
- Status
- active
A rare familial partial lipodystrophy characterized by severe partial lipoatrophy affecting the limbs, trunk, and abdomen, together with faciocervical fat accumulation. Additional manifestations include diabetes, acanthosis nigricans, liver steatosis, and hypertriglyceridemia, as well as low serum leptin and adiponectin levels. Severe cardiac rhythm and conduction disturbances have also been reported.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal semi-dominant severe lipodystrophic laminopathy | |
| fr | Laminopathie lipodystrophique sévère autosomique semi-dominante | |
| de | Laminopathie, lipodystrophe, schwere, autosomal-dominante | |
| es | Laminopatía lipodistrófica grave autosómica semidominante | |
| it | Laminopatia lipodistrofica grave autosomica semi-dominante | |
| nl | Autosomaal semidominante ernstige lipodystrofische laminopathie | |
| pt | Laminopatia lipodistrófica grave autossómica semi-dominante | |
| pl | Autosomalna semidominująca ciężka laminopatia lipodystroficzna | |
| cs | Autozomálně-semidominantní těžká lipodystrofická laminopatie | |
| uk | Аутосомна напівдомінантна важка ліподистрофічна ламінопатія | |
| zh | 常染色体半显性重度脂肪营养不良性椎板病 | |
| tr | Otozomal yarı-dominant ağır lipodistrofik laminopati |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E88.1 | NTBT | attributed | validated |
| ICD-11 | 5A44 | NTBT | attributed | validated |
| MONDO | 0017230 | E | validated | |
| UMLS | C5680783 | 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 (3):
- ORPHA:98306Familial partial lipodystrophy
rare genetic diseases; rare skin diseases; rare endocrine diseases - ORPHA:300763Laminopathy with lipodystrophy
rare genetic diseases - ORPHA:181368Rare insulin-resistance syndrome
rare genetic diseases; rare endocrine diseases
No children.
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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 | 21346069[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 21346069[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.
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HPO phenotypes
49 annotations · validated 2017-07-19| 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:0000347 | Micrognathia | |
| HP:0003717 | Minimal subcutaneous fat | |
| HP:0000418 | Narrow nasal ridge | |
| HP:0002216 | Premature graying of hair | |
| HP:0005328 | Progeroid facial appearance | |
| HP:0003758 | Reduced subcutaneous adipose tissue | |
| HP:0003712 | Skeletal muscle hypertrophy | |
| HP:0000991 | Xanthomatosis | |
| Frequent (79-30%) | ||
| HP:0001597 | Abnormal nail morphology | |
| HP:0000956 | Acanthosis nigricans | |
| HP:0004943 | Accelerated atherosclerosis | |
| HP:0001870 | Acroosteolysis of distal phalanges (feet) | |
| HP:0006288 | Advanced eruption of teeth | |
| HP:0002621 | Atherosclerosis | |
| HP:0003233 | Decreased HDL cholesterol concentration | |
| HP:0030685 | Decreased adiponectin level | |
| HP:0003292 | Decreased serum leptin | |
| HP:0001397 | Hepatic steatosis | |
| HP:0000468 | Increased adipose tissue around the neck | |
| HP:0000287 | Increased facial adipose tissue | |
| HP:0008993 | Increased intraabdominal fat | |
| HP:0003635 | Loss of subcutaneous adipose tissue in limbs | |
| HP:0008968 | Muscle hypertrophy of the lower extremities | |
| HP:0009771 | Osteolytic defects of the phalanges of the hand | |
| HP:0000147 | Polycystic ovaries | |
| HP:0004416 | Precocious atherosclerosis | |
| HP:0040266 | Proximal upper limb muscle hypertrophy | |
| HP:0000311 | Round face | |
| HP:0000869 | Secondary amenorrhea | |
| HP:0000963 | Thin skin | |
| Occasional (29-5%) | ||
| HP:0005150 | Abnormal atrioventricular conduction | |
| HP:0001635 | Congestive heart failure | |
| HP:0001677 | Coronaryartery atherosclerosis | |
| HP:0100607 | Dysmenorrhea | |
| HP:0002230 | Generalized hirsutism | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0003326 | Myalgia | |
| HP:0003198 | Myopathy | |
| HP:0001733 | Pancreatitis | |
| HP:0001744 | Splenomegaly | |
| HP:0005115 | Supraventricular arrhythmia | |
| Very rare (<4-1%) | ||
| HP:0004308 | Ventricular arrhythmia | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 21346069[PMID]_25819867[PMID]_20421363[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/280365
- This record as JSON: /data/d/280365.json