MCID: LPD013
MIFTS: 4

Lipidosis with Triglycerid Storage Disease

Categories: Liver diseases, Rare diseases

Aliases & Classifications for Lipidosis with Triglycerid Storage Disease

MalaCards integrated aliases for Lipidosis with Triglycerid Storage Disease:

Name: Lipidosis with Triglycerid Storage Disease 52

Classifications:



Summaries for Lipidosis with Triglycerid Storage Disease

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 165 Definition Neutral lipid storage disease (NLSD) refers to a group of diseases characterized by a deficit in the degradation of cytoplasmic triglycerides and their accumulation in cytoplasmic lipid vacuoles in most tissues of the body. The group is heterogeneous: currently cases of NLSD with icthyosis (NLSDI/Dorfman-Chanarin disease; see this term) and NLSD with myopathy (NLSDM/neutral lipid storage myopathy; see this term) can be distinguished. Epidemiology The group of diseases is very rare and the prevalence is unknown (around 50 cases have been reported in medical literature, of which 3 had NLSDM) because of the vagueness of the descriptions. Clinical description In NLSDI, generalized ichthyosis occurs in 95% of cases, moderate myopathic syndrome (or abnormal serum muscle enzyme levels), intellectual deficit and moderate hepatomegaly (or functional impairment of the liver) occur in 60% of cases, ocular (cataract , retinopathy) and hearing abnormalities (deafness) occur in 40% of cases, and neuropathy and short stature occur in 20% of cases. Etiology NLSDI/Dorfman-Chanarin disease is caused by mutations in the ABHD5 gene (3p21), NLSDM by mutations in the PNPLA2/ATGL gene (localized to 11p15.5). Diagnostic methods Biological diagnosis is based on evidence of leukocytes in the vacuoles of neutral lipids and a deficiency in the degradation of cytoplasmic triglycerides in cultured cells (lymphoblasts or fibroblasts ), while mitochondrial function (in particular the transport and b-oxidation of fatty acids) is normal. Genetic diagnosis is also possible. Differential diagnosis Differential diagnoses include mitochondrial diseases with accumulation of cytoplasmic triglycerides (deficiencies in carnitine, cartinine palmitoly transferase or fatty acid oxidation enzymes; see these terms). Antenatal diagnosis Prenatal diagnosis is possible by genetic testing (for mutations in chorionic or amniotic cells) when parental mutations have been identified. Genetic counseling Transmission of the disorder is autosomal recessive . Management and treatment There is no treatment to correct the metabolic deficiency. Prognosis For NLSDI/Dorfman-Chanarin disease, the severity of the disease is linked to the myopathy and any associated disorders (which may include ocular and cerebral involvement). The evolution of the disease varies between patients, but is relatively slow because some patients reach late adulthood. Visit the Orphanet disease page for more resources.

MalaCards based summary : Lipidosis with Triglycerid Storage Disease is related to chanarin-dorfman syndrome. Affiliated tissues include liver and testes.

Related Diseases for Lipidosis with Triglycerid Storage Disease

Diseases related to Lipidosis with Triglycerid Storage Disease via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 chanarin-dorfman syndrome 11.6

Symptoms & Phenotypes for Lipidosis with Triglycerid Storage Disease

Drugs & Therapeutics for Lipidosis with Triglycerid Storage Disease

Search Clinical Trials , NIH Clinical Center for Lipidosis with Triglycerid Storage Disease

Genetic Tests for Lipidosis with Triglycerid Storage Disease

Anatomical Context for Lipidosis with Triglycerid Storage Disease

MalaCards organs/tissues related to Lipidosis with Triglycerid Storage Disease:

40
Liver, Testes

Publications for Lipidosis with Triglycerid Storage Disease

Variations for Lipidosis with Triglycerid Storage Disease

Expression for Lipidosis with Triglycerid Storage Disease

Search GEO for disease gene expression data for Lipidosis with Triglycerid Storage Disease.

Pathways for Lipidosis with Triglycerid Storage Disease

GO Terms for Lipidosis with Triglycerid Storage Disease

Sources for Lipidosis with Triglycerid Storage Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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