ICD
MCID: MCL015
MIFTS: 62

Mucolipidosis Ii (ICD) malady

Bone diseases, Metabolic diseases, Fetal diseases categories

Summaries for Mucolipidosis Ii

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21Genetics Home Reference, 46OMIM, 19GeneReviews, 32MalaCards
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Genetics Home Reference:21 Mucolipidosis II alpha/beta (also known as I-cell disease) is a progressively debilitating disorder that affects many parts of the body. Most affected individuals do not survive past early childhood.

MalaCards: Mucolipidosis Ii, also known as i-cell disease, is related to mucolipidosis and mucolipidosis iii alpha/beta, and has symptoms including broad alveolar ridge, corneal dystrophy and tight skin/lack of elasticity. An important gene associated with Mucolipidosis Ii is GNPTAB (N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits), and among its related pathways are PTM: gamma carboxylation, hypusine formation and arylsulfatase activation and Sphingolipid metabolism. The compounds formylglycine and glucuronic acid have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and liver, and related mouse phenotypes are growth/size and cellular.

Description from OMIM:46 252500

GeneReviews summary for ml2

Aliases & Classifications for Mucolipidosis Ii

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19GeneReviews, 20GeneTests, 22GTR, 21Genetics Home Reference, 44Novoseek, 48Orphanet, 42NIH Rare Diseases, 46OMIM, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases, Fetal diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

48
i-cell disease:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Before age 5


Aliases & Descriptions:

mucolipidosis ii 19 20 22 21
i-cell disease 19 21 44 48
mucolipidosis ii alpha/beta 19 21 46
inclusion cell disease 19 42 21
i cell disease 42 22
n-acetyl-glucosamine 1-phosphotransferase deficiency 48
mucolipidosis type ii 21
type ii mucolipidosis 60
mucolipidosis type 2 48
ml ii alpha/beta 19
leroy disease 42
ml ii 19
gnpta 42
mlii 21
ml 2 42
icd 42


External Ids:

OMIM46 252500
MESH via Orphanet35 C538602
ICD10 via Orphanet26 E77.0
SNOMED-CT via Orphanet57 70199000
UMLS via Orphanet61 C0020725, C2931894

Related Diseases for Mucolipidosis Ii

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Sources:
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 Ii via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 92)
idRelated DiseaseScoreTop Affiliating Genes
1mucolipidosis31.6GNPTAB, GNPTG
2mucolipidosis iii alpha/beta30.4GNPTG, GNPTAB
3niemann-pick disease30.0NPC1, SMPD1
4lysosomal storage disease30.0NPC1, CTSB, ARSH, SUMF1, SMPD1, ADPRH
5hyperparathyroidism10.4
6brugada syndrome10.2
7craniosynostosis10.2
8skin disease10.2
9long qt syndrome10.2
10cystinosis10.1
11dilated cardiomyopathy10.1
12reactive arthritis10.1
13mongolian spot10.1
14rickets10.1
15autosomal recessive disease10.1
16brain disease10.1
17cholestasis10.1
18complement deficiency10.1
19hepatitis10.1
20hydrocephalus10.1
21hypertension10.1
22coronary artery disease10.0
23arrhythmogenic right ventricular dysplasia10.0
24melanoma10.0
25skin melanoma10.0
26mucolipidosis iii gamma10.0GNPTG
27mucosulfatidosis10.0ARSH
28leukodystrophy10.0ARSH
29acid sphingomyelinase deficiency10.0SMPD1
30x-linked ichthyosis10.0ARSH
31speech disorder10.0GNPTAB, GNPTG
32sphingolipidosis10.0NPC1, ADPRH
33gaucher's disease10.0ADPRH, SMPD1, ARSH
34metachromatic leukodystrophy10.0SUMF1, ARSH
35niemann–pick disease10.0SMPD1, NPC1
36mucopolysaccharidosis10.0ARSH, SUMF1
37atherosclerosis10.0CASR, SMPD1, ADPRH
38colon cancer10.0ADPRH, CTSB, CASR
39fucosidosis9.9
40hypophosphatemia9.9
41neuronitis9.9
42gingival disease9.9
43gingival overgrowth9.9
44gingivitis9.9
45intestinal disease9.9
46neuronal ceroid lipofuscinosis9.9
47thrombocytopenia9.9
48choroid plexus papilloma9.9
49myoma9.9
50xerophthalmia9.9

Graphical network of the top 20 diseases related to Mucolipidosis Ii:



Diseases related to mucolipidosis ii

Clinical Features for Mucolipidosis Ii

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

252500

Clinical synopsis from OMIM:

252500

Symptoms:

48 (show all 29)
  • broad alveolar ridge
  • corneal dystrophy
  • tight skin/lack of elasticity
  • thin skin
  • kyphosis
  • wrist/carpal anomalies
  • cavernous/tuberous hemangioma
  • repeat respiratory infections
  • cardiac valvulopathy
  • heart/cardiac failure
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • long philtrum
  • anteverted nares/nostrils
  • corneal ulceration/perforation
  • anomalies of chest/thorax/trunk
  • herniae
  • hirsutism/hypertrichosis/increased body hair
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • structural anomalies of the nervous system
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • anomalies of bones/skeletal anomalies
  • lipidosis/sulfatidosis
  • autosomal recessive inheritance
  • short stature/dwarfism/nanism
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • epicanthic folds
  • depressed nasal bridge
  • coarse face

Drugs & Therapeutics for Mucolipidosis Ii

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

Search CenterWatch for Mucolipidosis Ii

Drug clinical trials:

Search ClinicalTrials for Mucolipidosis Ii

Search NIH Clinical Center for Mucolipidosis Ii

Search CenterWatch for Mucolipidosis Ii

Genetic Tests for Mucolipidosis Ii

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20GeneTests, 22GTR
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Genetic tests related to Mucolipidosis Ii:

id Genetic test Affiliating Genes
1 Mucolipidosis Ii20 22 GNPTAB
2 I Cell Disease22

Anatomical Context for Mucolipidosis Ii

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32MalaCards
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MalaCards organs/tissues related to Mucolipidosis Ii:

32
Bone, Skin, Liver, Heart, Brain

Animal Models for Mucolipidosis Ii or affiliated genes

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Sources:
36MGI
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MGI Mouse Phenotypes related to Mucolipidosis Ii:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053787.3CASR, GNPTAB, NPC1, CTSB, SUMF1, SMPD1
2MP:00053846.9NPC1, GNPTAB, CASR, CTSB, SUMF1, SMPD1
3MP:00053876.8ADPRH, SMPD1, SUMF1, CTSB, NPC1, CASR

Publications for Mucolipidosis Ii

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Sources:
50PubMed
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Articles related to Mucolipidosis Ii:

(show top 50)    (show all 140)
idTitleAuthorsYear
1
Ultrastructural analysis of neuronal and non-neuronal lysosomal storage in mucolipidosis type II knock-in mice. (24047352)
2013
2
Should neonatal hyperparathyroidism associated with mucolipidosis II/III be treated pharmacologically?a. (23729602)
2013
3
Mucolipidosis II-Related Mutations Inhibit the Exit from the Endoplasmic Reticulum and Proteolytic Cleavage of GlcNAc-1-Phosphotransferase Precursor Protein (GNPTAB). (24375680)
2013
4
Diagnostic strategy for mucolipidosis II/III. (22728628)
2012
5
Vacuolization of mucolipidosis type II mouse exocrine gland cells represents accumulation of autolysosomes. (21325625)
2011
6
Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity. (20880125)
2011
7
Blueberry muffin rash and thrombocytopenia in a newborn with mucolipidosis type II (I-cell disease) masquerading as congenital infections. (21959079)
2011
8
Lysosomal storage causes cellular dysfunction in mucolipidosis II skin fibroblasts. (21846724)
2011
9
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
10
Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations. (19659762)
2009
11
Mucolipidosis II: a single causal mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTAB) in a French Canadian founder population. (18190596)
2008
12
Radiolucent lesions of the maxillofacial complex in a patient with mucolipidosis type II (MLSII): case report. (17656121)
2007
13
When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients. (16630736)
2006
14
Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-Hurler polydystrophy) are caused by mutations in the GlcNAc- phosphotransferase alpha/beta-subunits precursor gene. (16465621)
2006
15
Mucolipidosis II presenting as severe neonatal hyperparathyroidism. (15580357)
2005
16
Prenatal mucolipidosis type II (I-cell disease) can present as Pacman dysplasia. (15887289)
2005
17
Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase. (16200072)
2005
18
Surgical treatment of marked mitral valvar deformity combined with I-cell disease 'Mucolipidosis II'. (16164792)
2005
19
A case of I-cell disease (mucolipidosis II) presenting with craniosynostosis. (12483356)
2002
20
Mucolipidosis II (I-cell disease) presenting as neonatal cholestasis. (11757590)
2001
21
I-cell disease (Mucolipidosis II). (11028124)
2000
22
Prenatal diagnosis of mucolipidosis II--electron microscopy and biochemical evaluation. (10210124)
1999
23
Lysosomal phospholipase activity is decreased in mucolipidosis II and III fibroblasts. (9989267)
1999
24
Mucolipidosis type II with evidence of a novel storage site. (9870693)
1998
25
Inter- and intrafamilial variability in mucolipidosis II (I-cell disease). (7628121)
1995
26
Bone changes of mucolipidosis II at different ages. Postmortem study of three cases. (1537168)
1992
27
Study of the bone pathology in early mucolipidosis II (I-cell disease). (2744018)
1989
28
Mucolipidosis II: correlation between radiological features and histopathology of the bones. (2771479)
1989
29
A variant of mucolipidosis. II. Clinical, biochemical and pathological investigations. (2839346)
1988
30
Fetal mucolipidosis II (I-cell disease): radiologic and pathologic correlation. (3080723)
1986
31
I-cell disease (mucolipidosis II). Differential expression in satellite cells and mature muscle fibers. (6321669)
1984
32
Mucolipidosis II (I-cell disease): studies of muscle biopsy and muscle cultures. (6458012)
1981
33
Multiple molecular forms of lysosomal enzymes in mucolipidosis II. (7327554)
1981
34
Partial characterization and studies of fibroblast and leucocyte neuraminidase activities towards sialyloligosaccharides in adult sialidosis and mucolipidosis II and III. (7317438)
1981
35
Comparison of the alpha-mannosidases in fibroblast cultures from patients with mannosidosis and mucolipidosis II and from controls. (7396862)
1980
36
Affinity chromatography of lysosomal enzymes in plasma, urine and fibroblasts of patients with mucolipidosis (ML) II and III. (6245813)
1980
37
Endocytosis of beta-N-acetylglucosaminidase from sections of mucolipidosis-II and-III fibroblasts by non-parenchymal rat liver cells. (496912)
1979
38
Content of gangliosides and protein-bound sialic acid in post-mortem brain of patients with mucolipidosis I and II (ML I and II). (526982)
1979
39
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
40
Neuraminidase in cultured fibroblasts and leucocytes of homozygotes and heterozygotes for the mucolipidosis II gene (I-cell disease). (517575)
1979
41
Demonstration of altered acidic hydrolases in fibroblasts from patients with mucolipidosis II by lectin titration. (486128)
1979
42
Altered serum alpha-D-mannosidase activity in mucolipidosis II and mucolipidosis III. (27178)
1978
43
Three cases of mucolipidosis II in an Arab kindred. (723902)
1978
44
Multiple abnormalities of ectoglycosyltransferases in cultured fibroblasts from patients with mucolipidosis II: Possible indication for abnormal plasma membrane glycoproteins. (904973)
1977
45
Structure of nine sialyl-oligosaccharides accumulated in urine of eleven patients with three different types of sialidosis. Mucolipidosis II and two new types of mucolipidosis. (885137)
1977
46
I-cell disease (mucolipidosis II): resolution of N-acetyl-beta-D-glucosaminidase and alpha-L-fucosidase components by DEAE-cellulose chromatography. (1204284)
1975
47
Mucolipidosis II (I-cell disease): present status of knowledge. (1103995)
1975
48
Mucolipidosis II (I-cell disease). A clinical and biochemical study. (4275378)
1974
49
I-cell disease (mucolipidosis II): a lysosomopathy. (4372583)
1974
50
Brain sphingolipids in I cell disease (mucolipidosis II). (4208424)
1974

Genetic Variations for Mucolipidosis Ii

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Mucolipidosis Ii:

62
id Symbol AA change Variation ID SNP ID
1GNPTABp.Lys1236MetVAR_027511
2GNPTABp.Leu1001ProVAR_062814

Expression for genes affiliated with Mucolipidosis Ii

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Mucolipidosis Ii

Search GEO for disease gene expression data for Mucolipidosis Ii.

Pathways for genes affiliated with Mucolipidosis Ii

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53Reactome, 29KEGG
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Pathways related to Mucolipidosis Ii according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.6SUMF1, ARSH
2
Hide members
9.2SMPD1, SUMF1, ARSH
37.6SMPD1, GNPTG, GNPTAB, NPC1, CTSB, SUMF1

Compounds for genes affiliated with Mucolipidosis Ii

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44Novoseek, 11DrugBank, 24HMDB, 28IUPHAR
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Compounds related to Mucolipidosis Ii according to GeneCards/GeneDecks:

(show all 14)
idCompoundScoreTop Affiliating Genes
1formylglycine449.8SUMF1, ARSH
2glucuronic acid449.8ADPRH, ARSH
3glucosamine44 11 2411.6ADPRH, ARSH
4mannose449.4ADPRH, SMPD1, GNPTAB
5leupeptin449.3CTSB, SMPD1
6epoxide449.3ADPRH, ARSH
7imidazole449.0CTSB, ADPRH
8histidine448.9ADPRH, ARSH, CTSB
9cholesterol44 28 11 2411.6NPC1, CTSB, ARSH, SMPD1
10oxygen44 249.4SMPD1, SUMF1, ARSH, CTSB
11arginine448.0CASR, CTSB, ARSH, SMPD1, ADPRH
12mannose 6-phosphate44 248.9ADPRH, SMPD1, CTSB, NPC1, GNPTAB, GNPTG
13serine447.9CASR, CTSB, ARSH, SMPD1, ADPRH
14cysteine447.0CASR, NPC1, CTSB, ARSH, SUMF1, SMPD1

GO Terms for genes affiliated with Mucolipidosis Ii

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16Gene Ontology
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Biological processes related to Mucolipidosis Ii according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sphingolipid metabolic processGO:0066659.2SMPD1, SUMF1, ARSH
2glycosphingolipid metabolic processGO:0066878.9SMPD1, SUMF1, ARSH

Products for genes affiliated with Mucolipidosis Ii

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Sources for Mucolipidosis Ii

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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