MCID: MCL001
MIFTS: 50

Mucolipidosis malady

Summaries for Mucolipidosis

About this section
Sources:
8Disease Ontology, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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

About this section
Sources:
8Disease Ontology, 10DISEASES, 44Novoseek, 21Genetics Home Reference, 60UMLS, 56SNOMED-CT, 34MeSH, 39NCIt, 46OMIM
See all sources

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

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

252650

Drugs & Therapeutics for Mucolipidosis

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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

About this section

Anatomical Context for Mucolipidosis

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Mucolipidosis:

32
Skin, Bone, Brain, Liver, Testes

Animal Models for Mucolipidosis or affiliated genes

About this section
Sources:
36MGI
See all sources

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

About this section
Sources:
50PubMed
See all sources

Articles related to Mucolipidosis:

(show top 50)    (show all 381)
idTitleAuthorsYear
1
Characterization and expression analysis of mcoln1.1 and mcoln1.2, the putative zebrafish co-orthologs of the gene responsible for human mucolipidosis type IV. (23585356)
2013
2
Skeletal deformities in mucolipidosis iii. (24286931)
2013
3
Systematic screens for proteins that interact with the mucolipidosis type IV protein TRPML1. (23418601)
2013
4
Mucolipidosis in a Chinese family with compound heterozygous mutations at the GNPTAB gene. (21549105)
2011
5
Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity. (20880125)
2011
6
The natural history and osteodystrophy of mucolipidosis types II and III. (20367762)
2010
7
Skeletal deformities in mucolipidosis III. (19670582)
2009
8
Neuropathology of the Mcoln1(-/-) knockout mouse model of mucolipidosis type IV. (19151629)
2009
9
Macular cherry-red spot and corneal haze in sialidosis (mucolipidosis type 1). (19064869)
2008
10
The type IV mucolipidosis-associated protein TRPML1 is an endolysosomal iron release channel. (18794901)
2008
11
Mucolipidosis II: a single causal mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTAB) in a French Canadian founder population. (18190596)
2008
12
Rapid one-step carrier detection assay of mucolipidosis IV mutations in the Ashkenazi Jewish population. (16645217)
2006
13
Transient neonatal hyperparathyroidism: a presenting feature of mucolipidosis type II. (16886594)
2006
14
Mucolipidosis II presenting as severe neonatal hyperparathyroidism. (15580357)
2005
15
The frequency of mucolipidosis type IV in the Ashkenazi Jewish population and the identification of 3 novel MCOLN1 mutations. (16287144)
2005
16
Prenatal mucolipidosis type II (I-cell disease) can present as Pacman dysplasia. (15887289)
2005
17
Mucolipidosis II (I - cell disease). (16333203)
2005
18
A mucolipidosis III patient presenting characteristic sonographic and magnetic resonance imaging findings of claw hand deformity. (15361946)
2004
19
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
20
Electronegative electroretinogram in mucolipidosis IV. (11786056)
2002
21
Cloning of the gene encoding a novel integral membrane protein, mucolipidin, and identification of the two major founder mutations causing mucolipidosis type IV. (11013137)
2000
22
G(M2)-ganglioside metabolism in situ in mucolipidosis IV fibroblasts. (10227679)
1999
23
Protein catabolism in fibroblasts cultured from patients with mucolipidosis II and other lysosomal disorders. (8240260)
1993
24
Atlantoaxial instability and myelopathy in mucolipidosis. (2011780)
1991
25
Stimulation of GM3 ganglioside sialidase activity by an activator protein in patients with mucolipidosis IV and controls. (1806363)
1991
26
Corneal surface irregularities and episodic pain in a patient with mucolipidosis IV. (2302112)
1990
27
Early prenatal diagnosis of mucolipidosis IV. (3425607)
1987
28
Retinal function in mucolipidosis IV. (4088609)
1985
29
Studies on natural, antibody-dependent, and interleukin-2-activated killer-cell activity of a patient with mucolipidosis III as a test of the mannose-6-phosphate lytic acceptor hypothesis. (2931446)
1985
30
Increased serum hexosaminidase in a woman pregnant with fetus affected by mucolipidosis II (I-cell disease) (6472431)
1984
31
Mucolipidosis II. The clinical, radiological and biochemical features in three cases. (6137302)
1983
32
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
33
Two brothers with presumed mucolipidosis IV. (7171766)
1982
34
Defective phosphorylation and processing of beta-hexosaminidase by intact cultured fibroblasts from patients with mucolipidosis III. (6460470)
1982
35
Affinity chromatography of lysosomal enzymes in plasma, urine and fibroblasts of patients with mucolipidosis (ML) II and III. (6245813)
1980
36
Abnormal urinary excretion of sialoglycoconjugates in patients with mucolipidosis. (494262)
1979
37
The complementation of beta-galactosidase in fused cells of mucolipidosis II with another variants of beta-galactosidase deficiency using new single cell enzyme assay. (111672)
1979
38
Neuraminidase in cultured fibroblasts and leucocytes of homozygotes and heterozygotes for the mucolipidosis II gene (I-cell disease). (517575)
1979
39
360-MHz 1H nuclear-magnetic-resonance spectroscopy of sialyl-oligosaccharides from patients with sialidosis (mucolipidosis I and II). (668697)
1978
40
Three cases of mucolipidosis II in an Arab kindred. (723902)
1978
41
Carbohydrate composition of purified serum glycoproteins in mucolipidosis II and mucolipidosis III. (215898)
1978
42
Prenatal diagnosis of mucolipidosis IV by electron microscopy. (830895)
1977
43
A new type of mucolipidosis associated with hereditary thrombocytopathy and color blindness. (200061)
1977
44
Mucolipidosis II (Leroy-Opitz diseases, I cell disease) a case. (98417)
1977
45
Ocular involvement in I-cell disease (mucolipidosis II). Light and electron microscopic findings. (1083152)
1976
46
Prenatal diagnosis of mucolipidosis II (I-cell disease). (819273)
1976
47
Acid hydrolase deficiencies and abnormal glycoproteins in mucolipidosis. 3 (pseudo-Hurler polydystrophy). (4208016)
1974
48
Dermatological aspects of pseudo-Hurler polydystrophy (mucolipidosis 3). (4202776)
1973
49
I-cell disease--mucolipidosis II. (4216890)
1973
50
Elevated activity of lysosomal enzymes in amniotic fluid of a fetus with mucolipidosis II (I-cell disease). (4694487)
1973

Genetic Variations for Mucolipidosis

About this section

Expression for genes affiliated with Mucolipidosis

About this section
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

About this section
Sources:
29KEGG, 53Reactome
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
310.0FUCA1, NEU3, HEXA
4
Hide members
9.7HEXA, ARSH, NEU3, SUMF1, SMPD1
58.8SMPD1, HEXA, GNPTG, GNPTAB, NPC1, CTSB

Compounds for genes affiliated with Mucolipidosis

About this section
Sources:
44Novoseek, 24HMDB, 2BitterDB, 49PharmGKB, 28IUPHAR, 11DrugBank
See all sources

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

About this section
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:00668910.2NEU3, 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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mucolipidosis

About this section
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