ICD
MCID: MCL015
MIFTS: 48

Mucolipidosis Ii (ICD) malady

Bone, Metabolic, Fetal categories

Summaries for Mucolipidosis Ii

Sources:
21Genetics Home Reference, 47OMIM, 19GeneReviews, 33MalaCards
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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 autosomal recessive inheritance, intellectual deficit/mental/psychomotor retardation/learning disability and failure to thrive/difficulties for feeding in infancy/growth delay. 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. Related mouse phenotypes are growth/size and cellular.

Description from OMIM:47 252500

GeneReviews summary for ml2

Aliases & Classifications for Mucolipidosis Ii

Sources:
19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 45 49
mucolipidosis ii alpha/beta 19 21 47
inclusion cell disease 19 43 21
i cell disease 43 22
n-acetyl-glucosamine 1-phosphotransferase deficiency 49
mucolipidosis type ii 21
type ii mucolipidosis 61
mucolipidosis type 2 49
ml ii alpha/beta 19
leroy disease 43
ml ii 19
gnpta 43
mlii 21
ml 2 43
icd 43


External Ids:

OMIM47 252500
MESH via Orphanet36 C538602
ICD10 via Orphanet26 E77.0
SNOMED-CT via Orphanet58 70199000
UMLS via Orphanet62 C0020725, C2931894

Related Diseases for Mucolipidosis Ii

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

(show top 50)    (show all 61)
idRelated DiseaseScoreTop Affiliating Genes
1mucolipidosis31.6GNPTAB, GNPTG
2mucolipidosis iii alpha/beta30.3GNPTG, GNPTAB
3niemann-pick disease30.1NPC1, SMPD1
4niemann–pick disease30.1SMPD1, NPC1
5brugada syndrome10.3
6alpha-mannosidosis10.2
7hyperparathyroidism, neonatal10.2
8left ventricular noncompaction10.2
9cystinosis10.2
10coronary artery disease,10.1
11t cell deficiency10.1
12reactive arthritis10.1
13mongolian spot10.1
14protein s deficiency10.1
15rickets10.1
16pick's disease10.1
17protein c deficiency10.1
18autosomal recessive disease10.1
19b cell deficiency10.1
20brain disease10.1
21pacman dysplasia10.1
22mucolipidosis iii gamma10.0GNPTG
23mucosulfatidosis10.0ARSH
24leukodystrophy10.0ARSH
25acid sphingomyelinase deficiency10.0SMPD1
26x-linked ichthyosis10.0ARSH
27speech disorder10.0GNPTAB, GNPTG
28sphingolipidosis10.0NPC1, ADPRH
29gaucher's disease10.0ADPRH, SMPD1, ARSH
30metachromatic leukodystrophy10.0SUMF1, ARSH
31mucopolysaccharidosis10.0ARSH, SUMF1
32atherosclerosis10.0CASR, SMPD1, ADPRH
33colon cancer10.0ADPRH, CTSB, CASR
34lysosomal storage disease10.0NPC1, CTSB, ARSH, SUMF1, SMPD1, ADPRH
35choroid plexus papilloma9.9
36myoma9.9
37xerophthalmia9.9
38cutaneous fibrous histiocytoma9.9
39danon disease9.9
40adjustment disorder9.9
41nocardiosis9.9
42ganglioglioma9.9
43dextrocardia9.9
44chronic myeloid leukemia9.9
45nicotine dependence9.9
46hypertensive heart disease9.9
47adenofibroma9.9
48allergic contact dermatitis9.9
49astrocytoma9.9
50substance dependence9.9

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



Diseases related to mucolipidosis ii

Clinical Features for Mucolipidosis Ii

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

252500

Clinical synopsis from OMIM:

252500

Symptoms:

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

Drugs & Therapeutics for Mucolipidosis Ii

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

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

Sources:
20GeneTests, 22GTR
See all sources

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

Animal Models for Mucolipidosis Ii or affiliated genes

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

MGI Mouse Phenotypes related to Mucolipidosis Ii:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053787.3SMPD1, SUMF1, CTSB, NPC1, GNPTAB, CASR
2MP:00053846.9SMPD1, CASR, GNPTG, GNPTAB, NPC1, CTSB
3MP:00053876.8CASR, NPC1, CTSB, SUMF1, SMPD1, ADPRH

Publications for Mucolipidosis Ii

Sources:
51PubMed
See all sources

Articles related to Mucolipidosis Ii:

idTitleAuthorsYear
1
A novel intermediate mucolipidosis II/IIII+I^ caused by GNPTAB mutation in the cytosolic N-terminal domain. (24045841)
2013
2
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
3
Comparative pathology of murine mucolipidosis types II and IIIC. (19261645)
2009
4
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
5
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
6
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
7
Molecular basis of variant pseudo-Hurler polydystrophy (mucolipidosis IIIC). (10712439)
2000

Genetic Variations for Mucolipidosis Ii

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Mucolipidosis Ii:

63
id Symbol AA change Variation SNP ID
1GNPTABp.Lys1236MetVAR_027511
2GNPTABp.Leu1001ProVAR_062814

Expression for genes affiliated with Mucolipidosis Ii

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

Sources:
54Reactome, 30KEGG
See all sources

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

Sources:
45Novoseek, 11DrugBank, 24HMDB, 29IUPHAR
See all sources

Compounds related to Mucolipidosis Ii according to GeneCards/GeneDecks:

(show all 14)
idCompoundScoreTop Affiliating Genes
1formylglycine459.8SUMF1, ARSH
2glucuronic acid459.8ADPRH, ARSH
3glucosamine45 11 2411.6ADPRH, ARSH
4mannose459.4ADPRH, SMPD1, GNPTAB
5leupeptin459.3CTSB, SMPD1
6epoxide459.3ADPRH, ARSH
7imidazole459.0CTSB, ADPRH
8histidine458.9ADPRH, ARSH, CTSB
9cholesterol45 29 11 2411.6NPC1, CTSB, ARSH, SMPD1
10oxygen45 249.4SMPD1, SUMF1, ARSH, CTSB
11arginine458.0CASR, CTSB, ARSH, SMPD1, ADPRH
12mannose 6-phosphate45 248.9ADPRH, SMPD1, CTSB, NPC1, GNPTAB, GNPTG
13serine457.9CASR, CTSB, ARSH, SMPD1, ADPRH
14cysteine457.0CASR, NPC1, CTSB, ARSH, SUMF1, SMPD1

GO Terms for genes affiliated with Mucolipidosis Ii

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mucolipidosis Ii

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