MCID: MCL001
MIFTS: 50

Mucolipidosis malady

Summaries for Mucolipidosis

Sources:
8Disease Ontology, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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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 iii alpha/beta. 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 brain, skeletal muscle and liver, 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:64 Mucolipidosis (ML) is a group of inherited metabolic disorders that affect the body\'s ability to carry... more...

Description from OMIM:47 252650

Aliases & Classifications for Mucolipidosis

Sources:
8Disease Ontology, 10DISEASES, 45Novoseek, 21Genetics Home Reference, 61UMLS, 57SNOMED-CT, 35MeSH, 40NCIt, 47OMIM
See all sources

Aliases & Descriptions:

mucolipidosis 8 10 45
sialidosis 8 21 45
mucolipidosis type i 8 21
myoclonus cherry red spot syndrome 21
cherry red spot myoclonus syndrome 21
type i mucolipidosis 61
mucolipidosis i 21
mucolipidoses 61


External Ids:

Disease Ontology8 DOID:3343
MeSH35 D009081
SNOMED-CT57 70528007
NCIt40 C61267
OMIM47 252650

Related Diseases for Mucolipidosis

Sources:
17GeneCards, 18GeneDecks
See all sources

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 73)
idRelated DiseaseScoreTop Affiliating Genes
1mucolipidosis ii30.9ADPRH, SMPD1, FUCA1, ARSH, GUSB, CTSB
2mucolipidosis iii alpha/beta30.9FUCA1, GUSB, GNPTAB, GNPTG
3mucolipidosis iii gamma30.9GNPTG
4mucolipidosis iv30.8MCOLN1
5niemann-pick disease29.9NPC1, SMPD1
6niemann–pick disease29.9LCAT, NPC1, SMPD1
7galactosialidosis10.5
8carpal tunnel syndrome10.2
9sialidosis type i10.2
10sialidosis, type ii10.2
11hyperparathyroidism, neonatal10.2
12gnptab-related mucolipidoses10.1
13hydrops fetalis10.1
14juvenile sialidosis type 210.1
15congenital sialidosis type 210.1
16alpha-mannosidosis10.1
17rickets10.1
18n syndrome10.1
19pacman dysplasia10.1
20myoclonus10.1
21t cell deficiency10.0
22leukodystrophy10.0ARSH
23hepatitis10.0GUSB
24mucosulfatidosis10.0ARSH
25gingivitis10.0GUSB
26acid sphingomyelinase deficiency10.0SMPD1
27metachromatic leukodystrophy10.0SUMF1, ARSH
28liver cirrhosis10.0LCAT, GUSB
29sphingolipidosis10.0ADPRH, NPC1
30mucopolysaccharidosis iv10.0ARSH, GUSB
31schizophrenia10.0GUSB
32sandhoff disease10.0HEXA, NPC1
33x-linked ichthyosis10.0ARSH
34speech disorder10.0GNPTG, GNPTAB, NAGPA
35amyloidosis, secondary10.0LCAT, CTSB
36fucosidosis10.0HEXA, FUCA1
37dementia10.0NPC1, HEXA
38pituitary adenoma10.0CASR
39fabry disease10.0ADPRH, FUCA1, GUSB
40cystic fibrosis10.0SMPD1, GUSB, DYT10, HEXA
41metabolic syndrome x10.0LCAT, HEXA, NPC1, SMPD1
42gaucher's disease10.0HEXA, GUSB, ARSH, SMPD1, ADPRH
43galactosemia10.0LCAT, NPC1, GUSB, ARSH
44mucopolysaccharidosis10.0LCAT, HEXA, GUSB, ARSH, SUMF1
45adenoma10.0CASR, CTSB, SMPD1
46oral cancer10.0CTSB, DYT10
47leukemia10.0DYT10, GUSB, FUCA1, SMPD1, ADPRH
48atherosclerosis10.0LCAT, CASR, DYT10, SMPD1, ADPRH
49schistosomiasis10.0GUSB, CTSB
50type 2 diabetes mellitus10.0LCAT, DYT10, CTSB, GUSB, FUCA1

Graphical network of the top 20 diseases related to Mucolipidosis:



Diseases related to mucolipidosis

Clinical Features for Mucolipidosis

Sources:
47OMIM
See all sources

Clinical features from OMIM:

252650

Drugs & Therapeutics for Mucolipidosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Anatomical Context for Mucolipidosis

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Mucolipidosis:

33
Brain, Skeletal muscle, Liver, Skin, B cells, Fetal brain, Fetal liver

Animal Models for Mucolipidosis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Mucolipidosis

Sources:
51PubMed
See all sources

Articles related to Mucolipidosis:

(show top 50)    (show all 381)
idTitleAuthorsYear
1
Mucolipidosis type II I+/I^ with a homozygous missense mutation in the GNPTAB gene. (22495880)
2012
2
A compound heterozygous GNPTAB mutation causes mucolipidosis II with marked hair color change in a Han Chinese baby. (21416587)
2011
3
Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma. (19370764)
2009
4
Combined tarsal and carpal tunnel syndrome in mucolipidosis type III. A case study and review. (19154518)
2009
5
Comparative pathology of murine mucolipidosis types II and IIIC. (19261645)
2009
6
Membrane traffic and turnover in TRP-ML1-deficient cells: a revised model for mucolipidosis type IV pathogenesis. (18504305)
2008
7
Mucolipidosis IV: report of a case with ocular restricted phenotype caused by leaky splice mutation. (17239335)
2007
8
Missense mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTA) in a patient with mucolipidosis II induces changes in the size and cellular distribution of GNPTG. (16835905)
2006
9
A splicing mutation in the alpha/beta GlcNAc-1-phosphotransferase gene results in an adult onset form of mucolipidosis III associated with sensory neuropathy and cardiomyopathy. (15633164)
2005
10
Distinguishing Pacman dysplasia from mucolipidosis II: comment on Saul et al. [2005]. (15887286)
2005
11
Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase alpha/beta subunits in Korean patients with mucolipidosis type II or type IIIA. (16116615)
2005
12
Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III. (15060128)
2004
13
Mucolipidosis type IV a rare genetic disorder: new addition to the Ashkenazi Jewish panel. (15236718)
2004
14
Biochemical characteristics of a Korean patient with mucolipidosis III (pseudo-Hurler polydystrophy). (14555827)
2003
15
The osteodystrophy of mucolipidosis type III and the effects of intravenous pamidronate treatment. (12705498)
2002
16
A case of I-cell disease (mucolipidosis II) presenting with craniosynostosis. (12483356)
2002
17
Rapid detection of the two common mutations in Ashkenazi Jewish patients with mucolipidosis type IV. (11551108)
2001
18
Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non- Jewish patients and the frequency of the disease in the Ashkenazi Jewish population. (11317355)
2001
19
Delayed lysosomal metabolism of lipids in mucolipidosis type IV fibroblasts after LDL-receptor-mediated endocytosis. (11757585)
2001
20
Elevated lysosomal pH in Mucolipidosis type IV cells. (10090534)
1999
21
Detection of subclinical central nervous system abnormalities in two patients with mucolipidosis III by the use of motor and somatosensory evoked potentials. (9553948)
1998
22
Constitutive achlorhydria in mucolipidosis type IV. (9448310)
1998
23
Mucolipidosis type IV: abnormal transport of lipids to lysosomes. (9323557)
1997
24
Mucolipidosis III (pseudo-Hurler polydystrophy); clinical studies in aged patients in one family. (9077513)
1997
25
Inter- and intrafamilial variability in mucolipidosis II (I-cell disease). (7628121)
1995
26
Mucolipidosis II (20301728)
1993
27
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
28
Study of the bone pathology in early mucolipidosis II (I-cell disease). (2744018)
1989
29
Heterogeneity of N-acetylglucosamine 1-phosphotransferase within mucolipidosis III. (3001079)
1986
30
Mucolipidosis type III (pseudo-Hurler polydystrophy): conservative treatment of myofascial pain dysfunction syndrome with the sterling silver splint. (3459118)
1986
31
Treatment of corneal opacification in mucolipidosis IV with conjunctival transplantation. (3970116)
1985
32
I-cell disease (mucolipidosis II). Differential expression in satellite cells and mature muscle fibers. (6321669)
1984
33
Mucolipidosis I. (6860209)
1983
34
Mucolipidosis III is genetically heterogeneous. (6961420)
1982
35
Mucolipidosis III beta-N-acetyl-D-hexosaminidase A. Purification and properties. (6219664)
1982
36
Mucolipidosis IV: prenatal diagnosis by electron microscopy. (7156027)
1982
37
Intermediate golgi alpha-D-mannosidosis and mucolipidosis II and III. (7208171)
1981
38
Mucolipidosis type IV: ganglioside sialidase deficiency. (518603)
1979
39
Radiological signs of mucolipidosis II or I-cell disease. A study of nine cases. (673536)
1978
40
Electrophoretic abnormalities of lysosomal enzymes in mucolipidosis fibroblast lines. (848490)
1977
41
Mucopolysaccharide accumulation in cultured skin fibroblasts derived from patients with mucolipidosis IV. (145180)
1977
42
Mucolipidosis IV. Clinical, ultrastructural, histochemical, and chemical studies of a case, including a brain biopsy. (187156)
1976
43
Mucolipidosis III (pseudo-Hurler polydystrophy): Clinical and laboratory studies in a series of 12 patients. (810612)
1975
44
Mucolipidosis I. (811280)
1975
45
Mucolipidosis IV: ocular, systemic, and ultrastructural findings. (166049)
1975
46
Congenital corneal clouding with abnormal systemic storage bodies: a new variant of mucolipidosis. (4365943)
1974
47
Mucolipidosis III. (4282261)
1974
48
Pseudo-Hurler polydystrophy (mucolipidosis 3). A clinical, biochemical and ultrastructural study. (4213328)
1974
49
Mucolipidosis, probably a new variant with joint deformity and peripheral nerve dysfunction. (4218789)
1974
50
Mucolipidosis 3 (pseudo-Hurler polydystrophy): cytological and ultrastructural observations of cultured fibroblast cells. (4201594)
1973

Genetic Variations for Mucolipidosis

Expression for genes affiliated with Mucolipidosis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
30KEGG, 54Reactome
See all sources

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
310.0HEXA, NEU3, FUCA1
4
Hide members
9.7HEXA, ARSH, NEU3, SUMF1, SMPD1
58.8GNPTG, HEXA, GNPTAB, NPC1, CTSB, GUSB

Compounds for genes affiliated with Mucolipidosis

Sources:
45Novoseek, 24HMDB, 2BitterDB, 50PharmGKB, 29IUPHAR, 11DrugBank
See all sources

Compounds related to Mucolipidosis according to GeneCards/GeneDecks:

(show all 31)
idCompoundScoreTop Affiliating Genes
1formylglycine4510.6SUMF1, ARSH
2p-cresol4510.5GUSB, ARSH
3cerebroside4510.5ARSH, HEXA
4p-nitrophenyl butyrate4510.4LCAT, ADPRH
5ether4510.4LCAT, GUSB, ARSH
6methanol45 2411.3ISG15, GUSB, ARSH
7glycocholate4510.3ADPRH, GUSB
8glycolipid4510.3NEU3, NPC1, HEXA
9ulinastatin4510.3ADPRH, GUSB
10udp-n-acetylglucosamine4510.3NAGPA, GNPTAB
11glucuronic acid4510.2ADPRH, ARSH, GUSB, HEXA
12neomycin4510.2GUSB, DYT10, CASR
13chloroquine45 2 50 29 1114.2CTSB, MCOLN1, ADPRH
14bisphenol a4510.2ARSH, GUSB
15amide4510.2ISG15, CTSB, ADPRH
16N-Acetyl-D-glucosamine11 2411.2NAGPA, HEXA
17phosphatidylcholine4510.1SMPD1, NPC1, DYT10, LCAT
18n-acetylglucosamine4510.1HEXA, GNPTG, GNPTAB, NAGPA, FUCA1
19ganglioside4510.1HEXA, NPC1, NEU3, FUCA1, SMPD1
20butyrate4510.1ADPRH, ARSH, GUSB, LCAT
21heparin45 29 11 2413.0LCAT, HEXA, CTSB, GUSB, ARSH
22pge2459.9CASR, DYT10, CTSB, GUSB, SMPD1
23mannose459.9HEXA, GNPTAB, NAGPA, FUCA1, SMPD1, ADPRH
24cholesterol45 29 11 2412.9LCAT, NPC1, CTSB, ARSH, SMPD1
25phosphodiester459.9NAGPA, GNPTAB
26sphingosine45 11 2411.9DYT10, CTSB, SMPD1
27glutamate459.7LCAT, CASR, DYT10, CTSB, GUSB, ADPRH
28serine459.5LCAT, CASR, HEXA, DYT10, CTSB, ARSH
29cysteine459.4LCAT, CASR, ISG15, NPC1, CTSB, ARSH
30mannose 6-phosphate45 2410.3ADPRH, HEXA, GNPTG, GNPTAB, NPC1, CTSB
31calcium45 50 11 2412.3CASR, DYT10, CTSB, GUSB, ARSH, MCOLN1

GO Terms for genes affiliated with Mucolipidosis

Sources:
16Gene Ontology
See all sources

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:00668910.2HEXA, NEU3
2hyaluronan catabolic processGO:03021410.2GUSB, HEXA
3hyaluronan metabolic processGO:03021210.2HEXA, GUSB
4cholesterol transportGO:03030110.1NPC1, LCAT
5glycosphingolipid metabolic processGO:0066879.9SMPD1, NEU3, SUMF1, ARSH, HEXA
6sphingolipid metabolic processGO:0066659.8SMPD1, NEU3, ARSH, HEXA, SUMF1
7carbohydrate metabolic processGO:0059759.5NEU3, GUSB, HEXA, NAGPA
8small molecule metabolic processGO:0442819.4ARSH, GUSB, NEU3, HEXA, SUMF1, SMPD1

Products for genes affiliated with Mucolipidosis

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mucolipidosis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet