ORPHA:528
Congenital generalized lipodystrophy
Synonyms: BSCL · Berardinelli-Seip congenital lipodystrophy · Berardinelli-Seip syndrome · CGL
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A rare autosomal recessive form of lipodystrophy characterized by the association of generalized lipoatrophy with acromegaloid features, muscle hypertrophy, insulin resistance, hypertriglyceridemia, and liver steatosis.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital generalized lipodystrophy | BSCL · Berardinelli-Seip congenital lipodystrophy · Berardinelli-Seip syndrome · CGL |
| fr | Lipodystrophie généralisée congénitale | LGC · Lipodystrophie congénitale de Berardinelli-Seip · Syndrome de Berardinelli-Seip · LCBS |
| de | Lipodystrophie, generalisierte kongenitale | BSCL · Berardinelli-Seip-Syndrom · CGL · Lipodystrophie, kongenitale, Typ Berardinelli-Seip |
| es | Lipodistrofia congénita generalizada | BSCL · CGL · Lipodistrofia congénita de Beradinelli-Seip · Síndrome de Beradinelli-Seip |
| it | Lipodistrofia generalizzata congenita | BSCL · Diabete lipoatrofico · GCL · Lipodistrofia congenita di Berardinelli-Seip · Sindrome di Berardinelli-Seip |
| nl | Congenitale gegeneraliseerde lipodystrofie | BSCL · CGL · Congenitale lipodystrofie van Berardinelli-Seip · Syndroom van Beradinelli-Seip |
| pt | Lipodistrofia generalizada congénita | BSCL · CGL · Lipodistrofia congénita Berardinelli-Seip · Síndrome Berardinelli-Seip |
| pl | Wrodzona lipodystrofia Berardinelligo i Seipa | Cukrzyca lipoatroficzna · Uogólniona wrodzona lipodystrofia · Zespół Beradinelliego i Seipa · Zespół Brunzella |
| cs | Berardinelliova-Seipova vrozená lipodystrofie | BSCL · GCL · Vrozená generalizovaná lipodystrofie · Lipoatrofický diabetes · Berardinelliův-Seipův syndrom · Berardinelli-Seipova vrozená lipodystrofie · Berardinelli-Seipův syndrom |
| uk | Вроджена генералізована ліподистрофія | Вроджена ліподистрофія Берардінеллі-Сейпа · Синдром Берардінеллі-Сейпа · BSCL · CGL · Ліпоатрофічний діабет |
| zh | Berardinelli-Seip先天性脂肪营养不良 | 全身性先天性脂肪营养不良 |
| tr | Berardinelli-Seip doğumsal lipodistrofi | GCL · BSCL · Lipoatrofik diyabet · Berardinelli-Seip sendromu · Jeneralize doğumsal lipodistrofi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 269700 | BTNT | validated | |
| OMIM | 606721 | NTBT | validated | |
| OMIM | 608594 | BTNT | validated | |
| OMIM | 612526 | BTNT | validated | |
| OMIM | 613327 | BTNT | validated | |
| ICD-10 | E88.1 | NTBT | attributed | validated |
| ICD-11 | LD27.60 | E | specific | validated |
| MONDO | 0018883 | E | validated | |
| MeSH | D052497 | E | validated | |
| UMLS | C0221032 | E | validated | |
| GARD | 13388 | E | validated | |
| MedDRA | 10053547 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (6):
- ORPHA:98305Genetic lipodystrophy
rare genetic diseases; rare skin diseases; rare endocrine diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:363245Genetic progeroid syndrome
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:139033Progeroid syndrome
rare developmental anomalies during embryogenesis - ORPHA:181368Rare insulin-resistance syndrome
rare genetic diseases; rare endocrine diseases
Codes that Orphanet moved or referred to this one:
- ORPHA:1060Systemic cystic angiomatosis-Seip syndrome moved to · inactive
4
Genes
0 direct · 5 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| AGPAT2 | ORPHA:696189Congenital generalized lipodystrophy type 1 | Disease-causing germline mutation(s) in | Assessed | HGNC:325 | ENSG00000169692 | 603100 | 9q34.3 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | 20301391[PMID] |
| BSCL2 | ORPHA:696289Congenital generalized lipodystrophy type 2 | Disease-causing germline mutation(s) in | Assessed | HGNC:15832 | ENSG00000168000 | 606158 | 11q12.3 | BSCL2 lipid droplet biogenesis associated, seipin | 20301391[PMID] |
| CAV1 | ORPHA:696206Congenital generalized lipodystrophy type 3 | Disease-causing germline mutation(s) in | Assessed | HGNC:1527 | ENSG00000105974 | 601047 | 7q31.2 | caveolin 1 | 18211975[PMID] |
| CAVIN1 | ORPHA:228429Congenital generalized lipodystrophy type 4 | Disease-causing germline mutation(s) in | Assessed | HGNC:9688 | ENSG00000177469 | 603198 | 17q21.2 | caveolae associated protein 1 | 20684003[PMID]_27894728[PMID] |
| PPARG | ORPHA:696242PPARG-associated congenital generalized lipodystrophy | Disease-causing germline mutation(s) in | Assessed | HGNC:9236 | ENSG00000132170 | 601487 | 3p25.2 | peroxisome proliferator activated receptor gamma | 24980513[PMID]_36806620[PMID] |
5
Prevalence and incidence
10 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.5 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2012[OTHER] |
| Point prevalence | <1 / 1 000 000 | 0.01 / 100 000 | United States | Value and class | Validated | 16722806[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.86 / 100 000 | Peru | Value and class | Validated | 32201678[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.1 / 100 000 | Norway | Value and class | Validated | https://www.ncbi.nlm.nih.gov/books/NBK1212/ |
| Point prevalence | 1-9 / 1 000 000 | 0.5 / 100 000 | Lebanon | Value and class | Validated | https://www.ncbi.nlm.nih.gov/books/NBK1212/ |
| Point prevalence | 1-9 / 1 000 000 | 0.2 / 100 000 | Portugal | Value and class | Validated | https://www.ncbi.nlm.nih.gov/books/NBK1212/ |
| Prevalence at birth | 1-9 / 100 000 | 4 / 100 000 | Oman | Value and class | Validated | 15767751[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.6812 / 100 000 | Worldwide | Value and class | Validated | ORPHANET |
| Point prevalence | <1 / 1 000 000 | 0.05 / 100 000 | Turkey | Value and class | Validated | 27144933[PMID] |
| Point prevalence | 1-9 / 100 000 | 3.23 / 100 000 | Brazil | Value and class | Validated | 35209917[PMID] |
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
37 annotations · validated 2020-03-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008887 | Adipose tissue loss | |
| HP:0002240 | Hepatomegaly | |
| HP:0000855 | Insulin resistance | |
| HP:0009125 | Lipodystrophy | |
| HP:0003712 | Skeletal muscle hypertrophy | |
| Frequent (79-30%) | ||
| HP:0000819 | Diabetes mellitus | |
| HP:0000998 | Hypertrichosis | |
| HP:0002155 | Hypertriglyceridemia | |
| HP:0001249 | Intellectual disability | |
| Occasional (29-5%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0000956 | Acanthosis nigricans | |
| HP:0005616 | Accelerated skeletal maturation | |
| HP:0012062 | Bone cyst | |
| HP:0001394 | Cirrhosis | |
| HP:0008665 | Clitoral hypertrophy | |
| HP:0001635 | Congestive heart failure | |
| HP:0001508 | Failure to thrive | |
| HP:0001263 | Global developmental delay | |
| HP:0001397 | Hepatic steatosis | |
| HP:0003124 | Hypercholesterolemia | |
| HP:0000842 | Hyperinsulinemia | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0030796 | Increased C-peptide level | |
| HP:0001176 | Large hands | |
| HP:0001833 | Long foot | |
| HP:0000294 | Low anterior hairline | |
| HP:0002162 | Low posterior hairline | |
| HP:0000158 | Macroglossia | |
| HP:0000303 | Mandibular prognathia | |
| HP:0003247 | Overgrowth of external genitalia | |
| HP:0001015 | Prominent superficial veins | |
| HP:0000336 | Prominent supraorbital ridges | |
| HP:0011407 | Proportionate tall stature | |
| Very rare (<4-1%) | ||
| HP:0000141 | Amenorrhea | |
| HP:0000876 | Oligomenorrhea | |
| HP:0000147 | Polycystic ovaries | |
| HP:0010465 | Precocious puberty in females | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 20301391[PMID]_31724546[PMID]_29690976[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/528
- This record as JSON: /data/d/528.json