MCID: MCL001
MIFTS: 52

Mucolipidosis malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Neuronal diseases, Eye diseases categories

Summaries for Mucolipidosis

About this section
Sources:
9Disease Ontology, 22Genetics Home Reference, 66Wikipedia, 48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
Genetics Home Reference:22 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 iv and mucolipidosis ii. 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 liver, and related mouse phenotypes are vision/eye and nervous system.

Disease Ontology:9 A lysosomal storage disease that is characterized by a deficiency of the enzyme alpha-n -acetyl neuraminidase (sialidase).

Wikipedia:66 Mucolipidosis (ML) is a group of inherited metabolic disorders that affect the body\'s ability to carry... more...

Description from OMIM:48 252650

Aliases & Classifications for Mucolipidosis

About this section
Sources:
9Disease Ontology, 11DISEASES, 46Novoseek, 22Genetics Home Reference, 63UMLS, 48OMIM, 36MeSH, 41NCIt, 59SNOMED-CT
See all sources

Classifications:



Aliases & Descriptions:

mucolipidosis 9 11 46
sialidosis 9 22 46
mucolipidosis type i 9 22
myoclonus cherry red spot syndrome 22
cherry red spot myoclonus syndrome 22
type i mucolipidosis 63
mucolipidosis i 22
mucolipidoses 63


External Ids:

Disease Ontology9 DOID:3343
OMIM48 252650
SNOMED-CT59 70528007
MeSH36 D009081
NCIt41 C61267

Related Diseases for Mucolipidosis

About this section
Sources:
18GeneCards, 19GeneDecks
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 all 49)
idRelated DiseaseScoreTop Affiliating Genes
1mucolipidosis iv31.4MCOLN1
2mucolipidosis ii31.4SMPD1, GNPTG, GNPTAB, ARSH
3mucolipidosis iii alpha/beta31.0GNPTAB, GNPTG
4mucopolysaccharidosis30.4ARSH, HEXA
5retinal degeneration29.9MCOLN1, ARSH
6lysosomal storage disease29.8SMPD1, MCOLN1, HEXA, ARSH
7mucolipidosis iii gamma10.6
8galactosialidosis10.5
9hyperparathyroidism10.3
10carpal tunnel syndrome10.2
11sialidosis, type ii10.2
12hydrops fetalis10.1
13juvenile sialidosis type 210.1
14congenital sialidosis type 210.1
15neuronitis10.1
16rickets10.1
17craniosynostosis10.1
18hepatitis10.1
19retinitis10.1
20pacman dysplasia10.1
21sialidosis type i10.1
22myoclonus10.1
23speech disorder10.0GNPTAB, GNPTG
24metachromatic leukodystrophy10.0HEXA, ARSH
25gangliosidosis10.0
26peripheral neuropathy10.0
27ataxia10.0
28mucopolysaccharidoses10.0
29epilepsy, progressive myoclonic 1a10.0
30niemann-pick disease10.0HEXA, SMPD1
31cystic fibrosis10.0HEXA, SMPD1
32bardet-biedl syndrome9.9
33cystinosis9.9
34mongolian spot9.9
35smith-lemli-opitz syndrome9.9
36cholestasis9.9
37color blindness9.9
38dilated cardiomyopathy9.9
39hydrocephalus9.9
40hypertension9.9
41neuropathy9.9
42progressive myoclonus epilepsy9.9
43thrombocytopenia9.9
44myoclonus epilepsy9.9
45skeletal dysplasias9.9
46mucolipidoses9.9
47blindness9.9
48metabolic syndrome x9.9HEXA, SMPD1
49gaucher's disease9.9ARSH, HEXA, SMPD1

Graphical network of the top 20 diseases related to Mucolipidosis:



Diseases related to mucolipidosis

Symptoms for Mucolipidosis

About this section
Sources:
48OMIM
See all sources


Clinical features from OMIM:

252650

Drugs & Therapeutics for Mucolipidosis

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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:
34MalaCards
See all sources

MalaCards organs/tissues related to Mucolipidosis:

34
Skin, Bone, Liver, Brain, Testes

Animal Models for Mucolipidosis or affiliated genes

About this section
Sources:
38MGI
See all sources

MGI Mouse Phenotypes related to Mucolipidosis:

38
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

About this section
Sources:
53PubMed
See all sources

Articles related to Mucolipidosis:

(show top 50)    (show all 374)
idTitleAuthorsYear
1
Ultrastructural analysis of neuronal and non-neuronal lysosomal storage in mucolipidosis type II knock-in mice. (24047352)
2013
2
An adult patient with mucolipidosis III alpha/beta presenting with parkinsonism. (22906612)
2013
3
Mucolipidosis in a Chinese family with compound heterozygous mutations at the GNPTAB gene. (21549105)
2011
4
Vacuolization of mucolipidosis type II mouse exocrine gland cells represents accumulation of autolysosomes. (21325625)
2011
5
Pathology of the first autopsy case diagnosed as mucolipidosis type III I+/I^ suggesting autophagic dysfunction. (21051253)
2011
6
Elevated Bone Turnover in an Infantile Patient with Mucolipidosis II; No Association with Hyperparathyroidism. (23926388)
2011
7
The natural history and osteodystrophy of mucolipidosis types II and III. (20367762)
2010
8
A novel single-chain antibody fragment for detection of mannose 6-phosphate-containing proteins: application in mucolipidosis type II patients and mice. (20472886)
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
Mucolipidosis IV: report of a case with ocular restricted phenotype caused by leaky splice mutation. (17239335)
2007
13
Basis of lethality in C. elegans lacking CUP-5, the Mucolipidosis Type IV orthologue. (16530747)
2006
14
Severe dilated cardiomyopathy as an unusual finding in a young infant with mucolipidosis type 2. (22368665)
2006
15
Mucolipidosis II presenting as severe neonatal hyperparathyroidism. (15580357)
2005
16
Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III. (15060128)
2004
17
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
18
Rapid detection of the two common mutations in Ashkenazi Jewish patients with mucolipidosis type IV. (11551108)
2001
19
Mucolipidosis type IV. (11461186)
2001
20
Identification of the gene causing mucolipidosis type IV. (10973263)
2000
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
Mucolipidosis type II with evidence of a novel storage site. (9870693)
1998
23
Mucolipidosis IV: morphology and histochemistry of an autopsy case. (7876885)
1995
24
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
25
Clinical spectrum of mucolipidosis type IV. (3353200)
1988
26
Phospholipids accumulation in mucolipidosis IV cultured fibroblasts. (3139925)
1988
27
Early prenatal diagnosis of mucolipidosis IV. (3425607)
1987
28
Effects of flavonoids on enzyme secretion and endocytosis in normal and mucolipidosis II fibroblasts. (3736343)
1986
29
Heterogeneity of N-acetylglucosamine 1-phosphotransferase within mucolipidosis III. (3001079)
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

About this section

Expression for genes affiliated with Mucolipidosis

About this section
Sources:
2BioGPS, 16Gene 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:
51PathCards, 56Reactome, 39NCBI BioSystems Database, 31KEGG
See all sources

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

About this section
Sources:
46Novoseek, 25HMDB
See all sources

Compounds related to Mucolipidosis according to GeneCards/GeneDecks:

(show all 28)
idCompoundScoreTop Affiliating Genes
1cerebroside469.7HEXA, ARSH
2glucuronic acid469.7ARSH, HEXA
3Tetrahexosylceramide (d18:1/12:0)259.5HEXA, SMPD1
4Trihexosylceramide (d18:1/24:0)259.5SMPD1, HEXA
5Trihexosylceramide (d18:1/24:1(15Z))259.5HEXA, SMPD1
6Trihexosylceramide (d18:1/25:0)259.5HEXA, SMPD1
7Trihexosylceramide (d18:1/26:1(17Z))259.5HEXA, SMPD1
8Trihexosylceramide (d18:1/9Z-18:1)259.4HEXA, SMPD1
9Trihexosylceramide (d18:1/22:0)259.4SMPD1, HEXA
10Trihexosylceramide (d18:1/12:0)259.4HEXA, SMPD1
11Trihexosylceramide (d18:1/16:0)259.4HEXA, SMPD1
12Trihexosylceramide (d18:1/18:0)259.4HEXA, SMPD1
13Trihexosylceramide (d18:1/20:0)259.4HEXA, SMPD1
14Lactosylceramide (d18:1/24:0)259.4SMPD1, HEXA
15n-acetylglucosamine469.4HEXA, GNPTAB, GNPTG
16Lactosylceramide (d18:1/22:0)259.4SMPD1, HEXA
17Lactosylceramide (d18:1/18:0)259.3SMPD1, HEXA
18heparan sulfate46 2510.3ARSH, HEXA
19Lactosylceramide (d18:1/26:1(17Z))259.3SMPD1, HEXA
20Lactosylceramide (d18:1/26:0)259.3SMPD1, HEXA
21Lactosylceramide (d18:1/25:0)259.2SMPD1, HEXA
22Lactosylceramide (d18:1/24:1(15Z))259.2SMPD1, HEXA
23Lactosylceramide (d18:1/12:0)259.1HEXA, SMPD1
24mannose469.0HEXA, GNPTAB, SMPD1
25Lactosylceramide (d18:1/16:0)259.0HEXA, SMPD1
26ganglioside468.8HEXA, SMPD1
27mannose 6-phosphate46 259.5HEXA, GNPTAB, GNPTG, SMPD1
28lipid468.5SMPD1, MCOLN1, HEXA, ARSH

GO Terms for genes affiliated with Mucolipidosis

About this section
Sources:
17Gene Ontology
See all sources

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:0468359.4GNPTG, GNPTAB
2lysosome organizationGO:0070409.2HEXA, GNPTAB
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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mucolipidosis

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet