Neutral lipid storage disease with myopathy

Preferred Label : Neutral lipid storage disease with myopathy;

Symbol : NLSDM;

CISMeF acronym : NLSDM;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Neutral lipid storage disease without ichthyosis;

Description : Neutral lipid storage disease with myopathy is an autosomal recessive muscle disorder characterized by adult onset of slowly progressive proximal muscle weakness affecting the upper and lower limbs and associated with increased serum creatine kinase; distal muscle weakness may also occur. About half of patients develop cardiomyopathy later in the disease course. Other variable features include diabetes mellitus, hepatic steatosis, hypertriglyceridemia, and possibly sensorineural hearing loss. Leukocytes and muscle cells show cytoplasmic accumulation of triglycerides (summary by Reilich et al., 2011). Neutral lipid storage disease with myopathy belongs to a group of disorders termed neutral lipid storage disorders (NLSDs). These disorders are characterized by the presence of triglyceride-containing cytoplasmic droplets in leukocytes and in other tissues, including bone marrow, skin, and muscle. Chanarin-Dorfman syndrome (CDS; 275630) is defined as NLSD with ichthyosis (NLSDI). Patients with NLSDM present with myopathy but without ichthyosis (summary by Fischer et al., 2007).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the patatin-like phospholipase domain-containing protein 2 gene (PNPLA2, 609059.0001);

Laboratory abnormalities : Increased serum creatine kinase; Abnormal liver enzymes; Increased serum triglycerides (in some patients); Accumulation of neutral lipids (triglycerides) in leukocytes, muscle cells, fibroblasts, and cardiomyocytes; Lipid vacuoles in leukocytes (Jordan bodies);

Prefixed ID : #610717;

Details

Origin ID

610717;

UMLS CUI

C1853136;

Automatic exact mappings (from CISMeF team)
- Chanarin-Dorfman Syndrome [MeSH Supplementary Concept]
- Neutral lipid storage myopathy [ICD-11 More detail]
Currated CISMeF NLP mapping
- Neutral lipid storage disease with myopathy (disorder) [SNOMED CT concept]
- Neutral lipid storage myopathy [ORDO Disease]
- neutral lipid storage disease with myopathy [MeSH concept]
- neutral lipid storage disease with myopathy [MeSH Supplementary Concept]
Genes related to phenotype
- Patatin-like phospholipase domain-containing protein 2 [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cardiomyopathy [HPO term]
- Delayed ability to walk [HPO term]
- Diabetes mellitus [HPO term]
- Difficulty running [HPO term]
- Difficulty walking [HPO term]
- Easy fatigability [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Elevated hepatic transaminase [HPO term]
- Exercise intolerance [HPO term]
- Fasciculations [HPO term]
- Generalized hypotonia [HPO term]
- Gowers sign [HPO term]
- Hepatic steatosis [HPO term]
- Hepatomegaly [HPO term]
- Hypertriglyceridemia [HPO term]
- Hypotonia [HPO term]
- Increased muscle lipid content [HPO term]
- Myalgia [HPO term]
- Myopathy [HPO term]
- Neck muscle weakness [HPO term]
- Proximal muscle weakness [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short stature [HPO term]
- Slowly progressive [HPO term]
- Variable expressivity [HPO term]
Not associated HPO term(s)
- Ichthyosis [HPO term]
ORDO concept(s)
- Neutral lipid storage myopathy [ORDO Disease]
Related ORDO disease(s)
- Neutral lipid storage disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Neutral lipid storage disease with myopathy (disorder) [SNOMED CT concept]
- Neutral lipid storage myopathy [ORDO Disease]
- neutral lipid storage disease with myopathy [MeSH Supplementary Concept]
- neutral lipid storage disease with myopathy [MeSH concept]

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