Neutral lipid storage disease
Synonyms: Lipidosis with triglyceride storage disease
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Neutral lipid storage disease (NLSD) refers to a group of diseases characterized by a deficit in the degradation of cytoplasmic triglycerides and their accumulation in cytoplasmic lipid vacuoles in most tissues of the body. The group is heterogeneous: currently cases of NLSD with icthyosis (NLSDI/Dorfman-Chanarin disease) and NLSD with myopathy (NLSDM/neutral lipid storage myopathy) can be distinguished.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Neutral lipid storage disease | Lipidosis with triglyceride storage disease |
| fr | Lipidose avec surcharge en triglycérides | |
| de | Neutralfett-Speicherkrankheit | Lipidose mit Triglyzerid-Speicherkrankheit |
| es | Enfermedad por depósito de lípidos neutros | |
| it | Lipidosi con sovraccarico di trigliceridi | |
| nl | Neutrale vetstapelingsziekte | Lipidose met triglyceridenstapelingsziekte |
| pt | Doença de armazenamento de lípidos neutros | Doença de Chanarin · Lipidose com doença de armazenamento de triglicerídeos · Miopatia por acumulação de lípidos neutros |
| pl | Choroba spichrzania lipidów neutralnych | Lipidoza z chorobą spichrzania triglicerydów |
| cs | Střádání neutrálních lipidů | Lipidóza se střádáním triglyceridů |
| uk | Хвороба накопичення нейтральних ліпідів | Ліпідоз з хворобою накопичення тригліцеридів |
| zh | 中性脂质贮积病 | 脂肪沉积伴甘油三酯贮积病 |
| tr | Nötr lipid depo hastalığı | Trigliserid depo hastalığı ile seyreden lipidoz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 5C52.2 | E | specific | validated |
| MONDO | 0015611 | E | validated | |
| MONDO | 15611 | E | validated | |
| UMLS | C5848057 | E | validated | |
| GARD | 3262 | 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 (2):
- ORPHA:352312Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement
rare inborn errors of metabolism; rare genetic diseases - ORPHA:206953Muscular lipidosis
rare genetic diseases; rare neurological diseases
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
| Cases/families | 50 cases | Worldwide | Case(s) | 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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/165
- This record as JSON: /data/d/165.json