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Neutral lipid storage myopathy
1 OMIM reference -
1 associated gene
6 connected diseases
No signs/symptoms info
Disease Type of connection
Osteogenesis imperfecta type 3
Heritable pulmonary arterial hypertension
Dorfman-Chanarin disease
Periventricular nodular heterotopia
Giant cell glioblastoma
Gliosarcoma
Synonym(s):
- NLSDM
- Neutral lipid storage disease with myopathy without ichthyosis
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
PNPLA2 Q96AD5609059
No signs/symptoms info available.