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, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 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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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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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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36MGI
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MGI Mouse Phenotypes related to Mucolipidosis Ii:

36
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

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Sources:
50PubMed
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Articles related to Mucolipidosis Ii:

(show top 50)    (show all 140)
idTitleAuthorsYear
1
Two homozygous nonsense mutations of GNPTAB gene in two Chinese families with mucolipidosis II alpha/beta using targeted next-generation sequencing. (23773965)
2013
2
Decreased bone formation and increased osteoclastogenesis cause bone loss in mucolipidosis II. (24127423)
2013
3
Mucolipidosis II: first report from Saudi Arabia. (24060719)
2013
4
Excessive activity of cathepsin K is associated with cartilage defects in a zebrafish model of mucolipidosis II. (22046029)
2012
5
Lysosomal dysfunction causes neurodegeneration in mucolipidosis II 'knock-in' mice. (22961545)
2012
6
A case of mucolipidosis II presenting with prenatal skeletal dysplasia and severe secondary hyperparathyroidism at birth. (23227064)
2012
7
Elevated Bone Turnover in an Infantile Patient with Mucolipidosis II; No Association with Hyperparathyroidism. (23926388)
2011
8
A compound heterozygous GNPTAB mutation causes mucolipidosis II with marked hair color change in a Han Chinese baby. (21416587)
2011
9
A novel single-chain antibody fragment for detection of mannose 6-phosphate-containing proteins: application in mucolipidosis type II patients and mice. (20472886)
2010
10
Molecular analysis of cell lines from patients with mucolipidosis II and mucolipidosis III. (19938078)
2009
11
Inhibition of autophagosome formation restores mitochondrial function in mucolipidosis II and III skin fibroblasts. (19656701)
2009
12
Altered chondrocyte differentiation and extracellular matrix homeostasis in a zebrafish model for mucolipidosis II. (19834066)
2009
13
Molecular order in mucolipidosis II and III nomenclature. (18203164)
2008
14
An Alu insertion in compound heterozygosity with a microduplication in GNPTAB gene underlies Mucolipidosis II. (17964840)
2008
15
Mucolipidosis II (I - cell disease). (16333203)
2005
16
Distinguishing Pacman dysplasia from mucolipidosis II: comment on Saul et al. [2005]. (15887286)
2005
17
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
18
Inheritance, biochemical abnormalities, and clinical features of feline mucolipidosis II: the first animal model of human I-cell disease. (14557388)
2003
19
Mucolipidosis II (20301728)
1993
20
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
21
Prenatal diagnosis of mucolipidosis II by early amniocentesis. (1971899)
1990
22
Effects of flavonoids on enzyme secretion and endocytosis in normal and mucolipidosis II fibroblasts. (3736343)
1986
23
Preliminary evidence for a processing error in the biosynthesis of Gaucher activator in mucolipidosis disease types II and III. (3518703)
1986
24
Lysosomal cystine storage in cystinosis and mucolipidosis type II. (4069825)
1985
25
Radiological features of neonatal mucolipidosis II (I-cell disease): a case report. (4081110)
1985
26
Transport and processing of beta-hexosaminidase in normal and mucolipidosis-II cultured fibroblasts. Effect of monensin and nigericin. (6231921)
1984
27
Mucolipidosis II and III. The genetic relationships between two disorders of lysosomal enzyme biosynthesis. (6309902)
1983
28
Mucolipidosis II. The clinical, radiological and biochemical features in three cases. (6137302)
1983
29
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
30
Successful cryopreservation of tissue and skin fibroblast cultures from patients with mucolipidosis II (I-cell disease). (7460631)
1981
31
Intermediate golgi alpha-D-mannosidosis and mucolipidosis II and III. (7208171)
1981
32
Neonatal mucolipidosis II (I-cell disease): clinical, radiological and biochemical studies in a case. (7410106)
1980
33
Molecular forms of beta-hexosaminidase and alpha-mannosidase in cell cultures from patients with mucolipidosis types II and III. (7371194)
1980
34
Plasma alpha-D-mannosidase in mucolipidosis II and mucolipidosis III. (7357746)
1980
35
Oligosaccharide and ganglioside neuraminidase activities of mucolipidosis I (sialidosis) and mucolipidosis II (I-cell disease) fibroblasts. (477659)
1979
36
Urinary lysosomal hydrolases in mucolipidosis II and mucolipidosis III. (35150)
1979
37
360-MHz 1H nuclear-magnetic-resonance spectroscopy of sialyl-oligosaccharides from patients with sialidosis (mucolipidosis I and II). (668697)
1978
38
Radiological signs of mucolipidosis II or I-cell disease. A study of nine cases. (673536)
1978
39
Ocular findings in I-cell disease (mucolipidosis type II). (868962)
1977
40
Mucolipidosis II (Leroy-Opitz diseases, I cell disease) a case. (98417)
1977
41
Correction of human mucolipidosis II enzyme abnormalities in somatic cell hybrids. (562989)
1977
42
Ocular involvement in I-cell disease (mucolipidosis II). Light and electron microscopic findings. (1083152)
1976
43
Mucolipidosis II and III: different residual activity of beta-galactosidase in cultured fibroblasts. (1269176)
1976
44
Prenatal diagnosis and fetal pathology of I-cell disease (mucolipidosis type II). (168339)
1975
45
Mucolipidosis II (I-cell disease). (4218788)
1974
46
Analysis of N-acetyl- -D-glucosaminidase in mucolipidosis II (I-cell disease). (4708053)
1973
47
I-cell disease (mucolipidosis type II). Serum hydrolases in obligate heterozygotes. (4361810)
1973
48
I-cell disease--mucolipidosis II. (4216890)
1973
49
I-cell disease, mucolipidosis II. Pathological, histochemical, ultrastructural and biochemical observations in four cases. (4353613)
1973
50
Mucolipidosis II (I-cell disease): ultrastructural observations of conjunctiva and skin. (4255137)
1971

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