Neutral lipid storage myopathy

General Information (adopted from Orphanet):

Synonyms, Signs: NEUTRAL LIPID STORAGE DISEASE WITHOUT ICHTHYOSIS
NLSDM
Neutral lipid storage disease with myopathy without ichthyosis
Number of Symptoms 43
OrphanetNr: 98908
OMIM Id: 610717
ICD-10: E75.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Adult onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: Neutral lipid storage disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000467) Neck muscle weakness rare [HPO:skoehler] 29 / 7739
2
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
3
 (HPO:0000407) Sensorineural hearing impairment rare [HPO:skoehler] 524 / 7739
4
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
5
 (HPO:0001284) Areflexia rare [HPO:skoehler] 198 / 7739
6
 (HPO:0002355) Difficulty walking 61 / 7739
7
 (HPO:0003388) Easy fatigability 34 / 7739
8
 (HPO:0001265) Hyporeflexia 208 / 7739
9
 (HPO:0002380) Fasciculations 42 / 7739
10
 (HPO:0001315) Reduced tendon reflexes 160 / 7739
11
 (HPO:0000819) Diabetes mellitus rare [HPO:skoehler] 131 / 7739
12
 (HPO:0001397) Hepatic steatosis 75 / 7739
13
 (HPO:0002910) Elevated hepatic transaminases 158 / 7739
14
 (HPO:0002240) Hepatomegaly 467 / 7739
15
 (HPO:0004322) Short stature rare [HPO:skoehler] 1232 / 7739
16
 (HPO:0001638) Cardiomyopathy rare [HPO:skoehler] 192 / 7739
17
 (HPO:0001637) Abnormality of the myocardium 76 / 7739
18
 (HPO:0002155) Hypertriglyceridemia rare [HPO:skoehler] 67 / 7739
19
 (HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
20
 (HPO:0003546) Exercise intolerance 18952067 IBIS 62 / 7739
21
 (HPO:0010547) Muscle flaccidity 466 / 7739
22
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
23
 (HPO:0003198) Myopathy 151 / 7739
24
 (HPO:0009058) Increased muscle lipid content 18952067 IBIS 6 / 7739
25
 (HPO:0001324) Muscle weakness 859 / 7739
26
 (HPO:0003701) Proximal muscle weakness 18952067 IBIS 105 / 7739
27
 (HPO:0003391) Gowers sign 37 / 7739
28
 (HPO:0009046) Difficulty running 17 / 7739
29
 (HPO:0001252) Muscular hypotonia 990 / 7739
30
 (HPO:0003326) Myalgia 143 / 7739
31
 (OMIM) Limb muscle atrophy 2 / 7739
32
 (OMIM) No ichthyosis 1 / 7739
33
 (OMIM) Difficulty raising arms 1 / 7739
34
 (OMIM) Limb weakness, proximal followed by distal 1 / 7739
35
 (HPO:0003677) Slow progression 134 / 7739
36
 (OMIM) Accumulation of neutral lipids (triglycerides) in leukocytes, muscle cells, fibroblasts, and cardiomyocytes 1 / 7739
37
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
38
 (OMIM) Vacuoles containing neutral lipids seen on muscle biopsy 1 / 7739
39
 (HPO:0003828) Variable expressivity 130 / 7739
40
 (OMIM) Fatty degeneration of muscle seen on MRI 1 / 7739
41
 (HPO:0003581) Adult onset 117 / 7739
42
 (OMIM) Lipid vacuoles in leukocytes (Jordan bodies) 1 / 7739
43
 (OMIM) Delayed walking 13 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Fischer et al. (2007) described 3 affected females from 3 families from the Netherlands, France, and Algeria who showed multisystem triglyceride storage and myopathy, inconstantly associated with delays in walking, variable cardiac abnormalities, and hepatomegaly. One suffered from ...
Molecular genetics OMIM In 3 females with NLSDM, Fischer et al. (2007) found compound heterozygous or homozygous mutations in the PNPLA2 gene (609059.0001-609059.0004), which encodes adipose triglyceride lipase, also known as ATGL. Fischer et al. (2007) investigated PNPLA2 as a candidate ...