CIDEC-related familial partial lipodystrophy
Synonyms: CIDEC-related FPLD · FPLD5
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent
- Status
- active
A rare, genetic lipodystrophy characterized by abnormal subcutaneous fat distribution, resulting in preservation of visceral, neck and axilliary fat and absence of lower limb and femorogluteal subcutaneous fat. Additional clinical features are acanthosis nigricans, insulin-resistant type II diabetes mellitus, dyslipidemia, and hypertension, leading to pancreatitis, hepatomegaly and hepatic steatosis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | CIDEC-related familial partial lipodystrophy | CIDEC-related FPLD · FPLD5 |
| fr | Lipodystrophie partielle familiale associée à CIDEC | FPLD5 · LDPF associée à CIDEC · LDPF5 |
| de | Lipodystrophie, familiäre partielle, CIDEC-assoziierte | CIDEC-abhängige FPLD · FPLD5 |
| es | Lipodistrofia parcial familiar asociada a CIDEC | FPLD5 |
| it | Lipodistrofia parziale familiare correlata a CIDEC | FPLD CIDEC-correlata |
| nl | CIDEC-gerelateerde familiale partiële lipodystrofie | CIDEC-gerelateerde FPLD · FPLD5 |
| pt | Lipodistrofia parcial familiar CIDEC-relacionada | Lipodistrofia parcial familiar associada a mutações no gene CIDEC |
| pl | Rodzinna lipodystrofia częściowa zależna od CIDEC | FplD5 · FplD zależna od CIDEC |
| cs | CIDEC-vázaná familiární parciální lipodystrofie | CIDEC-vázaná FPLD |
| uk | Сімейна часткова ліподистрофія, повязана з CIDEC | FPLD, повязані з CIDEC · FPLD5 |
| zh | CIDEC相关性家族性部分脂肪代谢障碍 | CIDEC相关的FPLD |
| tr | CIDEC-ilişkili ailesel kısmi lipodistrofi | FPLD5 · CIDEC-ilişkili FPLD |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615238 | E | validated | |
| ICD-10 | E88.1 | NTBT | attributed | validated |
| ICD-11 | 5A44 | NTBT | attributed | validated |
| MONDO | 0014098 | E | validated | |
| UMLS | C3808940 | 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 |
|---|---|---|---|---|---|---|---|---|
| CIDEC | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:24229 | ENSG00000187288 | 612120 | 3p25.3 | cell death inducing DFFA like effector c | 20049731[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20049731[PMID] |
| Cases/families | 1 cases | Worldwide | Case(s) | Validated | 20049731[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.
HPO phenotypes
16 annotations · validated 2016-12-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0009125 | Lipodystrophy | |
| HP:0003635 | Loss of subcutaneous adipose tissue in limbs | |
| Very frequent (99-80%) | ||
| HP:0000956 | Acanthosis nigricans | |
| HP:0008981 | Calf muscle hypertrophy | |
| HP:0030685 | Decreased adiponectin level | |
| HP:0003292 | Decreased serum leptin | |
| HP:0001397 | Hepatic steatosis | |
| HP:0002240 | Hepatomegaly | |
| HP:0002155 | Hypertriglyceridemia | |
| HP:0000831 | Insulin-resistant diabetes mellitus | |
| HP:0009017 | Loss of gluteal subcutaneous adipose tissue | |
| HP:0000876 | Oligomenorrhea | |
| HP:0001733 | Pancreatitis | |
| HP:0000147 | Polycystic ovaries | |
| HP:0003712 | Skeletal muscle hypertrophy | |
| Excluded (0%) | ||
| HP:0000292 | Loss of facial adipose tissue | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 20049731[PMID]_18654663[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/435651
- This record as JSON: /data/d/435651.json