MCID: MCL001
MIFTS: 50

Mucolipidosis malady

Summaries for Mucolipidosis

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8Disease Ontology, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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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: Mucolipidosis, also known as sialidosis, is related to mucolipidosis ii and mucolipidosis iv. An important gene associated with Mucolipidosis is MCOLN1 (mucolipin 1), and among its related pathways are Glycosaminoglycan degradation and Hyaluronan uptake and degradation. The compounds formylglycine and p-cresol have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and brain, and related mouse phenotypes are renal/urinary system and growth/size.

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

Wikipedia:63 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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8Disease Ontology, 10DISEASES, 44Novoseek, 21Genetics Home Reference, 60UMLS, 56SNOMED-CT, 34MeSH, 39NCIt, 46OMIM
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Aliases & Descriptions:

mucolipidosis 8 10 44
sialidosis 8 21 44
mucolipidosis type i 8 21
myoclonus cherry red spot syndrome 21
cherry red spot myoclonus syndrome 21
type i mucolipidosis 60
mucolipidosis i 21
mucolipidoses 60


External Ids:

Disease Ontology8 DOID:3343
MeSH34 D009081
SNOMED-CT56 70528007
NCIt39 C61267
OMIM46 252650

Related Diseases for Mucolipidosis

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17GeneCards, 18GeneDecks
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Diseases in the Mucolipidosis Iii Alpha/beta family:

mucolipidosis Mucolipidosis Ii
Mucolipidosis Iii Gamma Mucolipidosis Iv

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

(show top 50)    (show all 76)
idRelated DiseaseScoreTop Affiliating Genes
1mucolipidosis ii31.5ADPRH, SMPD1, FUCA1, ARSH, GUSB, CTSB
2mucolipidosis iv31.4MCOLN1
3mucolipidosis iii gamma30.9GNPTG
4mucolipidosis iii alpha/beta30.9FUCA1, GUSB, GNPTAB, GNPTG
5mucopolysaccharidosis30.3LCAT, HEXA, GUSB, ARSH, SUMF1
6hepatitis30.0GUSB
7lysosomal storage disease30.0NPC1, HEXA, CTSB, GUSB, ADPRH, SMPD1
8mucopolysaccharidosis iv29.8ARSH, GUSB
9niemann-pick disease29.8NPC1, SMPD1
10hyperparathyroidism10.2
11gnptab-related mucolipidoses10.2
12carpal tunnel syndrome10.1
13complement deficiency10.1
14retinitis10.1
15sialidosis, type ii10.1
16juvenile sialidosis type 210.1
17congenital sialidosis type 210.1
18neuronitis10.0
19rickets10.0
20corneal degeneration10.0
21craniosynostosis10.0
22retinal degeneration10.0
23skin disease10.0
24sialidosis type i10.0
25leukodystrophy10.0ARSH
26mucosulfatidosis10.0ARSH
27gingivitis10.0GUSB
28acid sphingomyelinase deficiency10.0SMPD1
29metachromatic leukodystrophy10.0SUMF1, ARSH
30liver cirrhosis10.0LCAT, GUSB
31sphingolipidosis10.0ADPRH, NPC1
32schizophrenia10.0GUSB
33sandhoff disease10.0HEXA, NPC1
34x-linked ichthyosis10.0ARSH
35niemann–pick disease10.0LCAT, NPC1, SMPD1
36speech disorder10.0GNPTG, GNPTAB, NAGPA
37amyloidosis, secondary10.0LCAT, CTSB
38fucosidosis10.0HEXA, FUCA1
39dementia10.0NPC1, HEXA
40pituitary adenoma10.0CASR
41fabry disease10.0ADPRH, FUCA1, GUSB
42cystic fibrosis10.0SMPD1, GUSB, DYT10, HEXA
43metabolic syndrome x10.0LCAT, HEXA, NPC1, SMPD1
44gaucher's disease10.0HEXA, GUSB, ARSH, SMPD1, ADPRH
45galactosemia10.0LCAT, NPC1, GUSB, ARSH
46adenoma10.0CASR, CTSB, SMPD1
47oral cancer10.0CTSB, DYT10
48leukemia10.0DYT10, GUSB, FUCA1, SMPD1, ADPRH
49atherosclerosis10.0LCAT, CASR, DYT10, SMPD1, ADPRH
50schistosomiasis10.0GUSB, CTSB

Graphical network of the top 20 diseases related to Mucolipidosis:



Diseases related to mucolipidosis

Clinical Features for Mucolipidosis

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Sources:
46OMIM
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Clinical features from OMIM:

252650

Drugs & Therapeutics for Mucolipidosis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Mucolipidosis

Drug clinical trials:

Search ClinicalTrials for Mucolipidosis

Search NIH Clinical Center for Mucolipidosis

Search CenterWatch for Mucolipidosis

Genetic Tests for Mucolipidosis

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Anatomical Context for Mucolipidosis

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32MalaCards
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MalaCards organs/tissues related to Mucolipidosis:

32
Skin, Bone, Brain, Liver, Testes

Animal Models for Mucolipidosis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Mucolipidosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.4LCAT, CASR, HEXA, CTSB, GUSB, MCOLN1
2MP:00053789.1HEXA, GNPTAB, NPC1, CTSB, GUSB, MCOLN1
3MP:00053768.9SMPD1, LCAT, CASR, HEXA, GNPTAB, NPC1
4MP:00053848.8CASR, GNPTG, GNPTAB, NPC1, CTSB, GUSB

Publications for Mucolipidosis

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50PubMed
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Articles related to Mucolipidosis:

(show top 50)    (show all 381)
idTitleAuthorsYear
1
An adult patient with mucolipidosis III alpha/beta presenting with parkinsonism. (22906612)
2013
2
Mucolipidosis and progressive myoclonus epilepsy: a distinctive phenotype. (24262466)
2013
3
Mucolipidosis type III in an adolescent presenting with atypical facial features and skeletal deformities. (23610860)
2013
4
Quantitative neuroimaging in mucolipidosis type IV. (24332805)
2013
5
Mucolipidosis II and III alpha/beta in Brazil: analysis of the GNPTAB gene. (23566849)
2013
6
Enlarged follicles and temporomandibular joint abnormalities in mucolipidosis Type III. (22241869)
2013
7
Unusual pulmonary findings in mucolipidosis II. (22162509)
2012
8
Genistein reduces heparan sulfate accumulation in human mucolipidosis II skin fibroblasts. (22088809)
2012
9
Elevated Bone Turnover in an Infantile Patient with Mucolipidosis II; No Association with Hyperparathyroidism. (23926388)
2011
10
LAPTMs regulate lysosomal function and interact with mucolipin 1: new clues for understanding mucolipidosis type IV. (21224396)
2011
11
Loss of N-acetylglucosamine-1-phosphotransferase gamma subunit due to intronic mutation in GNPTG causes mucolipidosis type III gamma: Implications for molecular and cellular diagnostics. (20034096)
2010
12
Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteins. (19124046)
2009
13
Compensatory expression of human N-acetylglucosaminyl-1-phosphotransferase subunits in mucolipidosis type III gamma. (19708128)
2009
14
An Alu insertion in compound heterozygosity with a microduplication in GNPTAB gene underlies Mucolipidosis II. (17964840)
2008
15
Severe dilated cardiomyopathy as an unusual finding in a young infant with mucolipidosis type 2. (22368665)
2006
16
Inheritance, biochemical abnormalities, and clinical features of feline mucolipidosis II: the first animal model of human I-cell disease. (14557388)
2003
17
The molecular basis of mucolipidosis type IV. (12125810)
2002
18
MRI appearances of hip abnormalities in mucolipidosis, type III. (10789907)
2000
19
Spontaneous mucolipidosis in a cat: an animal model of human I-cell disease. (8826001)
1996
20
Mucolipidosis type IV. Presentation of a mild variant. (1488220)
1992
21
Mucolipidosis II: correlation between radiological features and histopathology of the bones. (2771479)
1989
22
Clinical spectrum of mucolipidosis type IV. (3353200)
1988
23
Lysosomal accumulation of phospholipids in mucolipidosis IV cultured fibroblasts. (3168971)
1988
24
Isolation and structural characterization of sialic acid-containing storage material from mucolipidosis I (sialidosis) fibroblasts. (3349104)
1988
25
Mucolipidosis type IV: clinical spectrum and natural history. (2438637)
1987
26
Effects of flavonoids on enzyme secretion and endocytosis in normal and mucolipidosis II fibroblasts. (3736343)
1986
27
Ophthalmologic findings in mucolipidosis III (pseudo-Hurler polydystrophy). (3777077)
1986
28
Ganglioside sialidase distribution in mucolipidosis type IV cultured fibroblasts. (4037805)
1985
29
The structure of sialyl-glycopeptides of the O-glycosidic type, isolated from sialidosis (mucolipidosis I) urine. (6714238)
1984
30
Mucolipidosis I. Roentgenographic follow-up. (6494932)
1984
31
Cardiac involvement in mucolipidosis. Importance of non-invasive studies for detection of cardiac abnormalities. (6854951)
1983
32
Urinary excretion patterns of sialoglycoconjugates in patients with mucolipidosis. (7082326)
1982
33
Mucolipidosis I: studies of sialidase activity and a prenatal diagnosis. (7226521)
1981
34
Mucolipidosis II (I-cell disease): studies of muscle biopsy and muscle cultures. (6458012)
1981
35
Successful cryopreservation of tissue and skin fibroblast cultures from patients with mucolipidosis II (I-cell disease). (7460631)
1981
36
Demonstration of altered acidic hydrolases in fibroblasts from patients with mucolipidosis II by lectin titration. (486128)
1979
37
Altered serum alpha-D-mannosidase activity in mucolipidosis II and mucolipidosis III. (27178)
1978
38
Mucolipidosis III (pseudo-Hurler polydystrophy): report of case. (701114)
1978
39
Ocular findings in I-cell disease (mucolipidosis type II). (868962)
1977
40
I-cell disease (mucolipidosis 11). Pathological and biochemical studies of an autopsy case. (193352)
1977
41
A new variant mucolipidosis: biochemical investigations on two siblings. (410566)
1977
42
Correction of human mucolipidosis II enzyme abnormalities in somatic cell hybrids. (562989)
1977
43
Mucolipidosis I--a sialidosis. (610423)
1977
44
Isolation of acidic glycopeptides from urine by means of anion-exchange resins. Application to some cases of glycosphingolipidosis or mucolipidosis. (822966)
1976
45
Abnormal lysosomal hydrolases excreted by cultured fibroblasts in I-cell disease (mucolipidosis II). (1201084)
1975
46
A new mucolipidosis with psychomotor retardation, corneal clouding, and retinal degeneration. (169696)
1975
47
Case report. Case 2 (mucolipidosis III). (4218496)
1974
48
Hepatic ultrastructure and histochemistry in mucolipidosis II (I-cell disease). (4122673)
1973
49
Roentgen findings in mucolipidosis III (Pseudo-Hurler polydystrophy). (4264747)
1973
50
Mucolipidosis 3 (Pseudo-Hurler polydystrophy): multiple lysosomal enzyme abnormalities in serum and cultured fibroblast cells. (4200718)
1973

Genetic Variations for Mucolipidosis

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Expression for genes affiliated with Mucolipidosis

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1BioGPS, 15Gene Expression Omnibus DataSets
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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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29KEGG, 53Reactome
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Pathways related to Mucolipidosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.2GUSB, HEXA
2
Hide members
10.2GUSB, HEXA
310.0FUCA1, NEU3, HEXA
4
Hide members
9.7HEXA, ARSH, NEU3, SUMF1, SMPD1
58.8SMPD1, HEXA, GNPTG, GNPTAB, NPC1, CTSB

Compounds for genes affiliated with Mucolipidosis

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44Novoseek, 24HMDB, 2BitterDB, 49PharmGKB, 28IUPHAR, 11DrugBank
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Compounds related to Mucolipidosis according to GeneCards/GeneDecks:

(show all 31)
idCompoundScoreTop Affiliating Genes
1formylglycine4410.6SUMF1, ARSH
2p-cresol4410.5GUSB, ARSH
3cerebroside4410.5ARSH, HEXA
4p-nitrophenyl butyrate4410.4LCAT, ADPRH
5ether4410.4LCAT, GUSB, ARSH
6methanol44 2411.3ISG15, GUSB, ARSH
7glycocholate4410.3ADPRH, GUSB
8glycolipid4410.3NEU3, NPC1, HEXA
9ulinastatin4410.3ADPRH, GUSB
10udp-n-acetylglucosamine4410.3NAGPA, GNPTAB
11glucuronic acid4410.2ADPRH, ARSH, GUSB, HEXA
12neomycin4410.2GUSB, DYT10, CASR
13chloroquine44 2 49 28 1114.2CTSB, MCOLN1, ADPRH
14bisphenol a4410.2ARSH, GUSB
15amide4410.2ISG15, CTSB, ADPRH
16N-Acetyl-D-glucosamine11 2411.2NAGPA, HEXA
17phosphatidylcholine4410.1SMPD1, NPC1, DYT10, LCAT
18n-acetylglucosamine4410.1HEXA, GNPTG, GNPTAB, NAGPA, FUCA1
19ganglioside4410.1HEXA, NPC1, NEU3, FUCA1, SMPD1
20butyrate4410.1ADPRH, ARSH, GUSB, LCAT
21heparin44 28 11 2413.0LCAT, HEXA, CTSB, GUSB, ARSH
22pge2449.9CASR, DYT10, CTSB, GUSB, SMPD1
23mannose449.9HEXA, GNPTAB, NAGPA, FUCA1, SMPD1, ADPRH
24cholesterol44 28 11 2412.9LCAT, NPC1, CTSB, ARSH, SMPD1
25phosphodiester449.9NAGPA, GNPTAB
26sphingosine44 11 2411.9DYT10, CTSB, SMPD1
27glutamate449.7LCAT, CASR, DYT10, CTSB, GUSB, ADPRH
28serine449.5LCAT, CASR, HEXA, DYT10, CTSB, ARSH
29cysteine449.4LCAT, CASR, ISG15, NPC1, CTSB, ARSH
30mannose 6-phosphate44 2410.3ADPRH, HEXA, GNPTG, GNPTAB, NPC1, CTSB
31calcium44 49 11 2412.3CASR, DYT10, CTSB, GUSB, ARSH, MCOLN1

GO Terms for genes affiliated with Mucolipidosis

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16Gene Ontology
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Cellular components related to Mucolipidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lysosomal lumenGO:04320210.0SMPD1, GUSB, HEXA

Biological processes related to Mucolipidosis according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1ganglioside catabolic processGO:00668910.2NEU3, HEXA
2hyaluronan catabolic processGO:03021410.2GUSB, HEXA
3hyaluronan metabolic processGO:03021210.2GUSB, HEXA
4cholesterol transportGO:03030110.1LCAT, NPC1
5glycosphingolipid metabolic processGO:0066879.9SMPD1, SUMF1, NEU3, ARSH, HEXA
6sphingolipid metabolic processGO:0066659.8HEXA, ARSH, NEU3, SUMF1, SMPD1
7carbohydrate metabolic processGO:0059759.5NAGPA, NEU3, GUSB, HEXA
8small molecule metabolic processGO:0442819.4LCAT, HEXA, GUSB, ARSH, NEU3, SUMF1

Products for genes affiliated with Mucolipidosis

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet