ORPHA:98908
Neutral lipid storage disease with myopathy
Synonyms: Adipose triglyceride lipase deficiency · NLSDM · Neutral lipid storage disease type M · Neutral lipid storage disease with myopathy without ichthyosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult
- Status
- active
A form of neutral lipid storage disease characterized by adult onset of slowly progressive muscular weakness of the limbs and axial muscles, and accumulation of lipid droplets in the muscles and leukocytes.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Neutral lipid storage disease with myopathy | Adipose triglyceride lipase deficiency · NLSDM · Neutral lipid storage disease type M · Neutral lipid storage disease with myopathy without ichthyosis |
| fr | Myopathie à surcharge lipidique multisystémique | Maladie à surcharge lipidique avec myopathie sans ichtyose · NLSDM |
| de | Neutralfett-Speicherkrankheit mit Myopathie | Adipose Triglycerid-Lipase-Defizienz · NLSDM · Neutralfett-Speicherkrankheit Typ M · Neutralfett-Speicherkrankheit mit Myopathie ohne Ichthyose |
| es | Enfermedad por depósito de lípidos neutros con miopatía | NLSDM · Deficiencia de lipasa adipocítica de triglicéridos · Deficiencia de lipasa de triglicéridos adiposos · Enfermedad de depósito de lípidos neutros con miopatía sin ictiosis · Enfermedad de depósito de lípidos neutros tipo M |
| it | Malattia da deposito di lipidi neutri con miopatia | Deficit della lipasi adipocitaria dei trigliceridi · Malattia da deposito di lipidi neutri con miopatia senza ittiosi · Malattia da deposito di lipidi neutri tipo M · NLSDM |
| nl | Neutrale vetstapelingsziekte met myopathie | Deficiëntie van adipose triglyceride lipase · NLSDM · Neutrale vetstapelingsziekte met myopathie zonder ichthyosis · Neutrale vetstapelingsziekte type M |
| pt | Doença de armazenamento de lípidos neutros com miopatia | Deficiência adiposa da lipase de triglicerídeos · Doença de armazenamento de lipidos neutros com miopatia sem ictiose · Doença de armazenamento de lipidos neutros tipo M · NLSDM |
| pl | Miopatia spichrzania neutralnych tłuszczy | Choroba spichrzania neutralnych tłuszczy z miopatią bez rybiej łuski · Kardiomiowaskulopatia z odkładaniem się trójglicerydów · NLSDM · Choroba spichrzania neutralnych lipidów z miopatią |
| cs | Myopatie s ukládáním neutrálních lipidů | NLSDM · Střádavé onemocnění neutrálních lipidů s myopatií bez ichtyózy · Kardiomyovaskulopatie s depozity triglyceridů |
| uk | Хвороба накопичення нейтральних ліпідів з міопатією | Дефіцит жирової тригліцеридної ліпази · Хвороба накопичення нейтральних ліпідів, тип М · Хвороба накопичення нейтральних ліпідів з міопатією без іхтіозу · NLSDM |
| zh | 中性脂质贮积性肌病 | 中性脂质贮积病伴肌病不伴鱼鳞病 |
| tr | Nötr lipid depo miyopatisi | NLSDM · İktiyozsuz miyopatili nötr lipid depo hastalığı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610717 | E | validated | |
| ICD-10 | E75.5 | NTBT | attributed | validated |
| ICD-11 | 5C52.2 | NTBT | index | validated |
| MONDO | 0012545 | E | validated | |
| MeSH | C565192 | E | validated | |
| UMLS | C1853136 | E | validated | |
| GARD | 10288 | 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 (1):
- ORPHA:165Neutral lipid storage disease
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PNPLA2 | Disease-causing germline mutation(s) in | Assessed | HGNC:30802 | ENSG00000177666 | 609059 | 11p15.5 | patatin like domain 2, triacylglycerol lipase | 17187067[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 36 cases | Worldwide | Case(s) | Validated | 26600210[PMID]_28499397[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26600210[PMID]_28499397[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
39 annotations · validated 2019-01-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012548 | Fatty replacement of skeletal muscle | |
| HP:0012240 | Increased intramyocellular lipid droplets | |
| HP:0009073 | Progressive proximal muscle weakness | Diagnostic criterion |
| HP:0003547 | Shoulder girdle muscle weakness | |
| Frequent (79-30%) | ||
| HP:0040081 | Abnormal circulating creatine kinase concentration | |
| HP:0001638 | Cardiomyopathy | |
| HP:0009046 | Difficulty running | |
| HP:0003388 | Easy fatigability | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0002380 | Fasciculations | |
| HP:0001288 | Gait disturbance | |
| HP:0001290 | Generalized hypotonia | |
| HP:0003391 | Gowers sign | |
| HP:0001397 | Hepatic steatosis | |
| HP:0002155 | Hypertriglyceridemia | |
| HP:0025435 | Increased circulating lactate dehydrogenase concentration | |
| HP:0001270 | Motor delay | |
| HP:0003326 | Myalgia | |
| HP:0003198 | Myopathy | Diagnostic criterion |
| HP:0003749 | Pelvic girdle muscle weakness | |
| HP:0008167 | Very long chain fatty acid accumulation | |
| Occasional (29-5%) | ||
| HP:0001284 | Areflexia | |
| HP:0006280 | Chronic pancreatitis | |
| HP:0001635 | Congestive heart failure | |
| HP:0000819 | Diabetes mellitus | |
| HP:0009027 | Foot dorsiflexor weakness | |
| HP:0009055 | Generalized limb muscle atrophy | |
| HP:0030237 | Hand muscle weakness | |
| HP:0002240 | Hepatomegaly | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0000467 | Neck muscle weakness | |
| HP:0009063 | Progressive distal muscle weakness | |
| HP:0003805 | Rimmed vacuoles | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0004322 | Short stature | |
| Very rare (<4-1%) | ||
| HP:0001082 | Cholecystitis | |
| HP:0012683 | Pineal cyst | |
| Excluded (0%) | ||
| HP:0008064 | Ichthyosis | |
| HP:0001513 | Obesity | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 17187067[PMID]_21544567[PMID]_24836204[PMID]_19038890[PMID]_19729869[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98908
- This record as JSON: /data/d/98908.json