Neutral lipid storage disease
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Lipidosis with triglyceride storage disease |
| Number of Symptoms | 28 |
| OrphanetNr: | 165 |
| OMIM Id: |
|
| ICD-10: |
E75.5 |
| UMLs: |
C0268238 |
| MeSH: |
C536560 |
| MedDRA: |
|
| Snomed: |
19604005 |
Prevalence, inheritance and age of onset:
| Prevalence: | 50 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement
-Rare genetic disease Muscular lipidosis -Rare genetic disease -Rare neurologic disease |
Symptom Information:
|
|
(HPO:0000481) | Abnormality of the cornea | Occasional [Orphanet] | 124 / 7739 | |||
|
|
(HPO:0000488) | Retinopathy | Frequent [Orphanet] | 75 / 7739 | |||
|
|
(HPO:0000639) | Nystagmus | Occasional [Orphanet] | 555 / 7739 | |||
|
|
(HPO:0000518) | Cataract | Occasional [Orphanet] | 454 / 7739 | |||
|
|
(HPO:0000508) | Ptosis | Frequent [Orphanet] | 459 / 7739 | |||
|
|
(HPO:0000510) | Rod-cone dystrophy | Frequent [Orphanet] | 266 / 7739 | |||
|
|
(HPO:0000407) | Sensorineural hearing impairment | Very frequent [Orphanet] | 524 / 7739 | |||
|
|
(HPO:0000365) | Hearing impairment | Frequent [Orphanet] | 539 / 7739 | |||
|
|
(HPO:0006824) | Cranial nerve paralysis | Occasional [Orphanet] | 81 / 7739 | |||
|
|
(HPO:0001315) | Reduced tendon reflexes | Occasional [Orphanet] | 160 / 7739 | |||
|
|
(HPO:0002066) | Gait ataxia | Occasional [Orphanet] | 327 / 7739 | |||
|
|
(HPO:0001291) | Abnormality of the cranial nerves | Occasional [Orphanet] | 27 / 7739 | |||
|
|
(HPO:0000819) | Diabetes mellitus | Occasional [Orphanet] | 131 / 7739 | |||
|
|
(HPO:0001080) | Biliary tract abnormality | Very frequent [Orphanet] | 26 / 7739 | |||
|
|
(HPO:0006568) | Increased hepatic glycogen content | Frequent [Orphanet] | 34 / 7739 | |||
|
|
(HPO:0002240) | Hepatomegaly | Frequent [Orphanet] | 467 / 7739 | |||
|
|
(HPO:0004322) | Short stature | Frequent [Orphanet] | 1232 / 7739 | |||
|
|
(HPO:0000958) | Dry skin | Very frequent [Orphanet] | 152 / 7739 | |||
|
|
(HPO:0010783) | Erythema | Frequent [Orphanet] | 138 / 7739 | |||
|
|
(HPO:0008064) | Ichthyosis | Very frequent [Orphanet] | 108 / 7739 | |||
|
|
(HPO:0001646) | Abnormality of the aortic valve | Occasional [Orphanet] | 55 / 7739 | |||
|
|
(HPO:0003119) | Abnormality of lipid metabolism | Very frequent [Orphanet] | 60 / 7739 | |||
|
|
(HPO:0001324) | Muscle weakness | Frequent [Orphanet] | 859 / 7739 | |||
|
|
(HPO:0003202) | Skeletal muscle atrophy | Frequent [Orphanet] | 281 / 7739 | |||
|
|
(HPO:0003198) | Myopathy | Frequent [Orphanet] | 151 / 7739 | |||
|
|
(HPO:0003457) | EMG abnormality | Frequent [Orphanet] | 78 / 7739 | |||
|
|
(HPO:0030089) | Abnormal muscle fiber protein expression | Frequent [Orphanet] | 64 / 7739 | |||
|
|
(HPO:0012758) | Neurodevelopmental delay | Frequent [Orphanet] | 949 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|