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Lysosomal lipid storage disorder

MedGen UID:: 9780
•Concept ID:: C0023794
•: Disease or Syndrome

Synonyms:	Lipidoses; Lipidosis; Lipoidosis
SNOMED CT:	Lipid storage disease (10741005); Lipidosis (10741005); Lipoidosis (11455007); Lipidoses (10741005)

Monarch Initiative:	MONDO:0019245
Orphanet:	ORPHA79204

Definition

An inherited metabolic disorder in which harmful amounts of lipids accumulate in cells and tissues. Because of a functionally impaired hydrolase or auxiliary protein, their lipid substrates cannot be degraded, accumulate in the lysosome, and slowly spread to other intracellular membranes. [from MONDO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVLysosomal lipid storage disorder

Congenital, Hereditary, and Neonatal Diseases and Abnormalities
- Inborn genetic diseases
  - Inborn errors of metabolism
    - Lipid Metabolism, Inborn Errors
      - Lysosomal lipid storage disorder
        Cholesteryl ester storage disease
        Wolman disease
        Lysosomal acid lipase deficiency
        Neuronal ceroid lipofuscinosis
        Adult neuronal ceroid lipofuscinosis
        Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
        Ceroid lipofuscinosis, neuronal, 6A
        Ceroid lipofuscinosis, neuronal, 6B (Kufs type)
        Neuronal ceroid lipofuscinosis 1
        Neuronal ceroid lipofuscinosis 10
        Neuronal ceroid lipofuscinosis 11
        Neuronal ceroid lipofuscinosis 13
        Congenital neuronal ceroid lipofuscinosis
        Infantile neuronal ceroid lipofuscinosis
        Progressive myoclonic epilepsy type 3
        Juvenile neuronal ceroid lipofuscinosis
        Neuronal ceroid lipofuscinosis 2
        Neuronal ceroid lipofuscinosis 3
        Neuronal ceroid lipofuscinosis 8
        Neuronal ceroid lipofuscinosis 9
        Late-infantile neuronal ceroid lipofuscinosis
        Neuronal ceroid lipofuscinosis 5
        Neuronal ceroid lipofuscinosis 7
        Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
        Neuronal Ceroid Lipofuscinosis Type 4B
        Parkinsonism due to ATP13A2 deficiency
        Niemann-Pick disease, type C
        Niemann-Pick disease type C, adult neurologic onset
        Niemann-Pick disease type C, juvenile neurologic onset
        Niemann-Pick disease type C, late infantile neurologic onset
        Niemann-Pick disease type C, severe early infantile neurologic onset
        Niemann-Pick disease type C, severe perinatal form
        Niemann-Pick disease, type C1
        Niemann-Pick disease, type C2
        Sjögren-Larsson syndrome
        Sphingolipidosis
        Autosomal recessive cerebellar ataxia with late-onset spasticity
        Combined PSAP deficiency
        Fabry disease
        Farber lipogranulomatosis
        Galactosylceramide beta-galactosidase deficiency
        Adult Krabbe disease
        Infantile Krabbe disease
        Late-infantile/juvenile Krabbe disease
        Gangliosidosis
        GM1 gangliosidosis
        GM2 gangliosidosis
        Gaucher disease
        Gaucher disease due to saposin C deficiency
        Gaucher disease perinatal lethal
        Gaucher disease type 3A
        Gaucher disease type 3B
        Gaucher disease type I
        Gaucher disease type II
        Gaucher disease type III
        Gaucher disease, Norrbottnian type
        Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
        Metachromatic leukodystrophy
        Metachromatic leukodystrophy, adult type
        Metachromatic leukodystrophy, juvenile type
        Metachromatic leukodystrophy, late infantile form
        Multiple sulfatase deficiency
        Sea-blue histiocyte syndrome
        Sphingomyelin/cholesterol lipidosis
        Acid sphingomyelinase deficiency
        Chronic neurovisceral acid sphingomyelinase deficiency
        Niemann-Pick disease type E
        Niemann-Pick disease, type A
        Niemann-Pick disease, type B
        Sulfatidoses
        Tay-Sachs disease
        Juvenile (Subacute) Hexosaminidase A Deficiency
        Tay-Sachs disease, B variant, adult form
        Tay-Sachs disease, b variant, infantile form
        Tay-Sachs disease, b variant, juvenile form
        Tay-Sachs disease, B1 variant

Professional guidelines

PubMed

Disease characteristics, prognosis and miglustat treatment effects on disease progression in patients with Niemann-Pick disease Type C: an international, multicenter, retrospective chart review.

Pineda M, Juríčková K, Karimzadeh P, Kolnikova M, Malinova V, Insua JL, Velten C, Kolb SA
Orphanet J Rare Dis 2019 Jan 8;14(1):32. doi: 10.1186/s13023-019-0996-6. PMID: 30732631 Free PMC Article

Genotype/phenotype of 6 Chinese cases with Niemann-Pick disease type C.

Xiong H, Higaki K, Wei CJ, Bao XH, Zhang YH, Fu N, Qin J, Adachi K, Kumura Y, Ninomiya H, Nanba E, Wu XR
Gene 2012 May 1;498(2):332-5. Epub 2012 Feb 4 doi: 10.1016/j.gene.2012.01.026. PMID: 22326530

See all (2)

Recent clinical studies

Therapy

Recent insights into lysosomal acid lipase deficiency.

Korbelius M, Kuentzel KB, Bradić I, Vujić N, Kratky D
Trends Mol Med 2023 Jun;29(6):425-438. Epub 2023 Apr 5 doi: 10.1016/j.molmed.2023.03.001. PMID: 37028992 Free PMC Article

Disease characteristics, prognosis and miglustat treatment effects on disease progression in patients with Niemann-Pick disease Type C: an international, multicenter, retrospective chart review.

Pineda M, Juríčková K, Karimzadeh P, Kolnikova M, Malinova V, Insua JL, Velten C, Kolb SA
Orphanet J Rare Dis 2019 Jan 8;14(1):32. doi: 10.1186/s13023-019-0996-6. PMID: 30732631 Free PMC Article

Role of STARD4 and NPC1 in intracellular sterol transport.

Maxfield FR, Iaea DB, Pipalia NH
Biochem Cell Biol 2016 Dec;94(6):499-506. Epub 2016 Jan 28 doi: 10.1139/bcb-2015-0154. PMID: 27421092

2-Hydroxypropyl-β-Cyclodextrin Acts as a Novel Anticancer Agent.

Yokoo M, Kubota Y, Motoyama K, Higashi T, Taniyoshi M, Tokumaru H, Nishiyama R, Tabe Y, Mochinaga S, Sato A, Sueoka-Aragane N, Sueoka E, Arima H, Irie T, Kimura S
PLoS One 2015;10(11):e0141946. Epub 2015 Nov 4 doi: 10.1371/journal.pone.0141946. PMID: 26535909 Free PMC Article

Niemann-Pick disease type C.

Vanier MT
Orphanet J Rare Dis 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. PMID: 20525256 Free PMC Article

See all (10)

Prognosis

Long-term normalization of cognitive and psychopathological alterations in a juvenile Niemann-Pick type C case.

la Concepción Fournier Del Castillo M, Barrio SC, Orduña BE, Jiménez IB, Marín LL, Extremera VC, Gutiérrez-Solana LG
Neurodegener Dis Manag 2020 Apr;10(2):73-80. Epub 2020 Apr 30 doi: 10.2217/nmt-2019-0022. PMID: 32351165

Disease characteristics, prognosis and miglustat treatment effects on disease progression in patients with Niemann-Pick disease Type C: an international, multicenter, retrospective chart review.

Pineda M, Juríčková K, Karimzadeh P, Kolnikova M, Malinova V, Insua JL, Velten C, Kolb SA
Orphanet J Rare Dis 2019 Jan 8;14(1):32. doi: 10.1186/s13023-019-0996-6. PMID: 30732631 Free PMC Article

Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C.

Wijburg FA, Sedel F, Pineda M, Hendriksz CJ, Fahey M, Walterfang M, Patterson MC, Wraith JE, Kolb SA
Neurology 2012 May 15;78(20):1560-7. Epub 2012 Apr 18 doi: 10.1212/WNL.0b013e3182563b82. PMID: 22517094

Niemann-Pick disease type C.

Vanier MT
Orphanet J Rare Dis 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. PMID: 20525256 Free PMC Article

Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease.

Anderson RA, Byrum RS, Coates PM, Sando GN
Proc Natl Acad Sci U S A 1994 Mar 29;91(7):2718-22. doi: 10.1073/pnas.91.7.2718. PMID: 8146180 Free PMC Article

See all (7)

Clinical prediction guides

HSP90 inhibitors reduce cholesterol storage in Niemann-Pick type C1 mutant fibroblasts.

Pipalia NH, Saad SZ, Subramanian K, Cross A, Al-Motawa A, Garg K, Blagg BSJ, Neckers L, Helquist P, Wiest O, Ory DS, Maxfield FR
J Lipid Res 2021;62:100114. Epub 2021 Sep 3 doi: 10.1016/j.jlr.2021.100114. PMID: 34481829 Free PMC Article

Disease characteristics, prognosis and miglustat treatment effects on disease progression in patients with Niemann-Pick disease Type C: an international, multicenter, retrospective chart review.

Pineda M, Juríčková K, Karimzadeh P, Kolnikova M, Malinova V, Insua JL, Velten C, Kolb SA
Orphanet J Rare Dis 2019 Jan 8;14(1):32. doi: 10.1186/s13023-019-0996-6. PMID: 30732631 Free PMC Article

Diagnostic Algorithm for Cholesteryl Ester Storage Disease: Clinical Presentation in 19 Polish Patients.

Lipiński P, Ługowska A, Zakharova EY, Socha P, Tylki-Szymańska A
J Pediatr Gastroenterol Nutr 2018 Oct;67(4):452-457. doi: 10.1097/MPG.0000000000002084. PMID: 29958253

Niemann-Pick disease type C.

Vanier MT
Orphanet J Rare Dis 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. PMID: 20525256 Free PMC Article

Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease.

Anderson RA, Byrum RS, Coates PM, Sando GN
Proc Natl Acad Sci U S A 1994 Mar 29;91(7):2718-22. doi: 10.1073/pnas.91.7.2718. PMID: 8146180 Free PMC Article

See all (11)

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Lysosomal lipid storage disorder

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Therapy

Prognosis

Clinical prediction guides

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