MCID: MCL001
MIFTS: 53

Mucolipidosis malady

Genetic diseases, Metabolic diseases, Rare diseases, Bone diseases, Fetal diseases, Neuronal diseases, Eye diseases categories
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Summaries for Mucolipidosis

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Genetics Home Reference:21 Sialidosis is a severe inherited disorder that affects many organs and tissues, including the nervous system. This disorder is divided into two types, which are distinguished by the age at which symptoms appear and the severity of features.

MalaCards based summary: Mucolipidosis, also known as sialidosis, is related to mucolipidosis iv and mucolipidosis iii alpha/beta. An important gene associated with Mucolipidosis is MCOLN1 (mucolipin 1), and among its related pathways are Sphingolipid metabolism and Lysosome. The compounds cerebroside and glucuronic acid have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and brain, and related mouse phenotypes are vision/eye and nervous system.

Disease Ontology:8 A lysosomal storage disease that is characterized by a deficiency of the enzyme alpha-n -acetyl neuraminidase (sialidase).

Wikipedia:65 Mucolipidosis (ML) is a group of inherited metabolic disorders that affect the body\'s ability to carry... more...

Description from OMIM:46 252650

Aliases & Classifications for Mucolipidosis

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Mucolipidosis, Aliases & Descriptions:

Name: Mucolipidosis 8 10 44
Sialidosis 8 21 44
Cherry Red Spot Myoclonus Syndrome 21 62
Myoclonus Cherry Red Spot Syndrome 21 62
 
Mucolipidosis Type I 8 21
Type I Mucolipidosis 62
Mucolipidosis I 21
Mucolipidoses 62


Classifications:



External Ids:

Disease Ontology8 DOID:3343
MeSH34 D009081
SNOMED-CT57 70528007
NCIt39 C61267
OMIM46 252650

Related Diseases for Mucolipidosis

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Diseases in the Mucolipidosis Ii family:

mucolipidosis Mucolipidosis Iii Alpha/beta
Mucolipidosis Iii Gamma Mucolipidosis Iv

Diseases related to Mucolipidosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 52)
idRelated DiseaseScoreTop Affiliating Genes
1mucolipidosis iv31.9MCOLN1
2mucolipidosis iii alpha/beta31.1GNPTG, GNPTAB
3mucolipidosis ii30.9ARSH, SMPD1, GNPTG, GNPTAB
4mucopolysaccharidosis30.4ARSH, HEXA
5retinal degeneration30.1MCOLN1, ARSH
6lysosomal storage disease29.2SMPD1, MCOLN1, HEXA, ARSH
7mucolipidosis iii gamma10.7
8galactosialidosis10.5
9hyperparathyroidism10.3
10mannosidosis10.2
11carpal tunnel syndrome10.2
12retinitis10.2
13sialidosis, type ii10.2
14hydrops fetalis10.1
15juvenile sialidosis type 210.1
16congenital sialidosis type 210.1
17craniosynostosis10.1
18hepatitis10.1
19neuronitis10.1
20rickets10.1
21pacman dysplasia10.1
22sialidosis type i10.1
23myoclonus10.1
24speech disorder10.1GNPTG, GNPTAB
25metachromatic leukodystrophy10.0HEXA, ARSH
26gangliosidosis10.0
27peripheral neuropathy10.0
28ataxia10.0
29mucopolysaccharidoses10.0
30epilepsy, progressive myoclonic 1a10.0
31dilated cardiomyopathy10.0
32hydrocephalus10.0
33hypertension10.0
34mucolipidoses10.0
35muscle disorders10.0
36pulmonary hypertension10.0
37thrombocytopenia10.0
38smith-lemli-opitz syndrome10.0
39bardet-biedl syndrome10.0
40cystinosis10.0
41mongolian spot10.0
42cholestasis10.0
43color blindness10.0
44neuropathy10.0
45progressive myoclonus epilepsy10.0
46myoclonus epilepsy10.0
47skeletal dysplasias10.0
48blindness10.0
49niemann-pick disease9.9SMPD1, HEXA
50cystic fibrosis9.9HEXA, SMPD1

Graphical network of the top 20 diseases related to Mucolipidosis:



Diseases related to mucolipidosis

Symptoms for Mucolipidosis

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Clinical features from OMIM:

252650

Drugs & Therapeutics for Mucolipidosis

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Drug clinical trials:

Search ClinicalTrials for Mucolipidosis

Search NIH Clinical Center for Mucolipidosis

Genetic Tests for Mucolipidosis

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Anatomical Context for Mucolipidosis

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MalaCards organs/tissues related to Mucolipidosis:

32
Skin, Bone, Brain, Liver, Testes, Neutrophil

Animal Models for Mucolipidosis or affiliated genes

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MGI Mouse Phenotypes related to Mucolipidosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053919.1HEXA, MCOLN1, GNPTAB
2MP:00036318.2HEXA, MCOLN1, GNPTAB, SMPD1
3MP:00053788.0SMPD1, GNPTAB, MCOLN1, HEXA

Publications for Mucolipidosis

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Articles related to Mucolipidosis:

(show top 50)    (show all 390)
idTitleAuthorsYear
1
Systemic accumulation of undigested lysosomal metabolites in an autopsy case of mucolipidosis type II; autophagic dysfunction in cardiomyocyte. (24857410)
2014
2
Mislocalization of phosphotransferase as a cause of mucolipidosis III I+I^. (24550498)
2014
3
A novel mouse model of a patient mucolipidosis II mutation recapitulates disease pathology. (25107912)
2014
4
Ultrastructural analysis of neuronal and non-neuronal lysosomal storage in mucolipidosis type II knock-in mice. (24047352)
2013
5
Mucolipidosis in a Chinese family with compound heterozygous mutations at the GNPTAB gene. (21549105)
2011
6
Vacuolization of mucolipidosis type II mouse exocrine gland cells represents accumulation of autolysosomes. (21325625)
2011
7
Pathology of the first autopsy case diagnosed as mucolipidosis type III I+/I^ suggesting autophagic dysfunction. (21051253)
2011
8
The natural history and osteodystrophy of mucolipidosis types II and III. (20367762)
2010
9
Molecular characterization of 22 novel UDP-N-acetylglucosamine-1- phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients. (19634183)
2009
10
Molecular order in mucolipidosis II and III nomenclature. (18203164)
2008
11
DNA-based diagnosis of mucolipidosis type IIIA and mucopolysacchariodisis type VI in a Chinese family: a chance of 1 in 7.6 trillion. (17034777)
2007
12
Basis of lethality in C. elegans lacking CUP-5, the Mucolipidosis Type IV orthologue. (16530747)
2006
13
Severe dilated cardiomyopathy as an unusual finding in a young infant with mucolipidosis type 2. (22368665)
2006
14
Mucolipidosis II presenting as severe neonatal hyperparathyroidism. (15580357)
2005
15
Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III. (15060128)
2004
16
Identification and characterization of the single channel function of human mucolipin-1 implicated in mucolipidosis type IV, a disorder affecting the lysosomal pathway. (12459486)
2002
17
Rapid detection of the two common mutations in Ashkenazi Jewish patients with mucolipidosis type IV. (11551108)
2001
18
Mucolipidosis type IV. (11461186)
2001
19
Identification of the gene causing mucolipidosis type IV. (10973263)
2000
20
Detection of subclinical central nervous system abnormalities in two patients with mucolipidosis III by the use of motor and somatosensory evoked potentials. (9553948)
1998
21
Mucolipidosis type II with evidence of a novel storage site. (9870693)
1998
22
Mucolipidosis IV: morphology and histochemistry of an autopsy case. (7876885)
1995
23
Mild I-cell disease, or severe pseudo-Hurler polydystrophy in three siblings: further evidence for intermediate forms of mucolipidosis II and III. Radiological features. (1788443)
1991
24
Clinical spectrum of mucolipidosis type IV. (3353200)
1988
25
Phospholipids accumulation in mucolipidosis IV cultured fibroblasts. (3139925)
1988
26
Early prenatal diagnosis of mucolipidosis IV. (3425607)
1987
27
Effects of flavonoids on enzyme secretion and endocytosis in normal and mucolipidosis II fibroblasts. (3736343)
1986
28
Heterogeneity of N-acetylglucosamine 1-phosphotransferase within mucolipidosis III. (3001079)
1986
29
Ophthalmologic findings in mucolipidosis III (pseudo-Hurler polydystrophy). (3777077)
1986
30
Retinal function in mucolipidosis IV. (4088609)
1985
31
Homozygosity for the variant alpha-L-fucosidase trait and mucolipidosis III. (3997153)
1985
32
Heterogeneity in mucolipidosis II (I-cell disease). (6839528)
1983
33
Phosphorylation of lysosomal enzymes in fibroblasts. Marked deficiency of N-acetylglucosamine-1-phosphotransferase in fibroblasts of patients with mucolipidosis III. (6460679)
1982
34
Isolation and characterisation of 4-O-beta-D-mannopyranosyl-2-acetamido- 2-deoxy-D-glucose from the urine of a patient with mucolipidosis II and its occurrence in normal and pathological urine. (7095153)
1982
35
Mucolipidosis I: studies of sialidase activity and a prenatal diagnosis. (7226521)
1981
36
Mucolipidosis I (acid neuraminidase deficiency). Three cases and delineation of the variability of the phenotype. (7270511)
1981
37
Mucolipidosis II (I-cell disease): studies of muscle biopsy and muscle cultures. (6458012)
1981
38
Metabolism of mannose and fucose in cultured fibroblasts from patients with mannosidosis and mucolipidosis. (478559)
1979
39
Mucolipidosis IV. Histopathology of conjunctiva, cornea, and skin. (220944)
1979
40
Ocular findings in I-cell disease (mucolipidosis type II). (868962)
1977
41
Prenatal diagnosis of mucolipidosis IV by electron microscopy. (830895)
1977
42
Deficit in neuraminidase associated with mucolipidosis II (I-cell disease). (990381)
1976
43
Accumulation of 32S-mucopolysaccharides in cultured mucolipidosis cells. (127632)
1975
44
Mucolipidosis III (pseudo-Hurler polydystrophy): Clinical and laboratory studies in a series of 12 patients. (810612)
1975
45
Abnormal lysosomal hydrolases excreted by cultured fibroblasts in I-cell disease (mucolipidosis II). (1201084)
1975
46
Mucolipidosis I. (811280)
1975
47
Mucolipidosis II (I-cell disease). A clinical and biochemical study. (4275378)
1974
48
Congenital corneal clouding with abnormal systemic storage bodies: a new variant of mucolipidosis. (4365943)
1974
49
Analysis of N-acetyl- -D-glucosaminidase in mucolipidosis II (I-cell disease). (4708053)
1973
50
Hepatic ultrastructure in mucolipidosis I (lipomucopolysaccharidosis). (4323680)
1971

Variations for Mucolipidosis

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Expression for genes affiliated with Mucolipidosis

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Expression patterns in normal tissues for genes affiliated with Mucolipidosis

Search GEO for disease gene expression data for Mucolipidosis.

Pathways for genes affiliated with Mucolipidosis

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Pathways related to Mucolipidosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.5ARSH, HEXA, SMPD1
27.7HEXA, MCOLN1, GNPTAB, GNPTG, SMPD1

Compounds for genes affiliated with Mucolipidosis

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Sources:
44Novoseek, 24HMDB
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Compounds related to Mucolipidosis according to GeneCards/GeneDecks:

(show all 28)
idCompoundScoreTop Affiliating Genes
1cerebroside449.7HEXA, ARSH
2glucuronic acid449.7ARSH, HEXA
3Tetrahexosylceramide (d18:1/12:0)249.5HEXA, SMPD1
4Trihexosylceramide (d18:1/24:0)249.5SMPD1, HEXA
5Trihexosylceramide (d18:1/24:1(15Z))249.5HEXA, SMPD1
6Trihexosylceramide (d18:1/25:0)249.5HEXA, SMPD1
7Trihexosylceramide (d18:1/26:1(17Z))249.5HEXA, SMPD1
8Trihexosylceramide (d18:1/9Z-18:1)249.4HEXA, SMPD1
9Trihexosylceramide (d18:1/22:0)249.4SMPD1, HEXA
10Trihexosylceramide (d18:1/12:0)249.4HEXA, SMPD1
11Trihexosylceramide (d18:1/16:0)249.4HEXA, SMPD1
12Trihexosylceramide (d18:1/18:0)249.4HEXA, SMPD1
13Trihexosylceramide (d18:1/20:0)249.4HEXA, SMPD1
14Lactosylceramide (d18:1/24:0)249.4SMPD1, HEXA
15n-acetylglucosamine449.4HEXA, GNPTAB, GNPTG
16Lactosylceramide (d18:1/22:0)249.4SMPD1, HEXA
17Lactosylceramide (d18:1/18:0)249.3SMPD1, HEXA
18heparan sulfate44 2410.3ARSH, HEXA
19Lactosylceramide (d18:1/26:1(17Z))249.3SMPD1, HEXA
20Lactosylceramide (d18:1/26:0)249.3SMPD1, HEXA
21Lactosylceramide (d18:1/25:0)249.2SMPD1, HEXA
22Lactosylceramide (d18:1/24:1(15Z))249.2SMPD1, HEXA
23Lactosylceramide (d18:1/12:0)249.1HEXA, SMPD1
24mannose449.0HEXA, GNPTAB, SMPD1
25Lactosylceramide (d18:1/16:0)249.0HEXA, SMPD1
26ganglioside448.8HEXA, SMPD1
27mannose 6-phosphate44 249.5HEXA, GNPTAB, GNPTG, SMPD1
28lipid448.5SMPD1, MCOLN1, HEXA, ARSH

GO Terms for genes affiliated with Mucolipidosis

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Cellular components related to Mucolipidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lysosomal lumenGO:0432029.1HEXA, SMPD1

Biological processes related to Mucolipidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1carbohydrate phosphorylationGO:0468359.4GNPTAB, GNPTG
2lysosome organizationGO:0070409.2GNPTAB, HEXA
3cell deathGO:0082199.1HEXA, SMPD1
4glycosphingolipid metabolic processGO:0066878.6ARSH, HEXA, SMPD1
5sphingolipid metabolic processGO:0066658.5ARSH, HEXA, SMPD1

Products for genes affiliated with Mucolipidosis

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  • Antibodies
  • Proteins
  • Lysates

Sources for Mucolipidosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet