ICD
MCID: MCL015
MIFTS: 64

Mucolipidosis Ii (ICD) malady

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

Summaries for Mucolipidosis Ii

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22Genetics Home Reference, 48OMIM, 20GeneReviews, 34MalaCards
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Genetics Home Reference:22 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 epicanthic folds, lipidosis/sulfatidosis and structural anomalies of the nervous system. 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 endocrine/exocrine gland and hematopoietic system.

Description from OMIM:48 252500

GeneReviews summary for ml2

Aliases & Classifications for Mucolipidosis Ii

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20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 46Novoseek, 50Orphanet, 63UMLS, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
i-cell disease:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Before age 5


Aliases & Descriptions:

mucolipidosis ii 20 22
i-cell disease 20 22 46 50
mucolipidosis ii alpha/beta 20 22 48
inclusion cell disease 20 44 22
mucolipidosis 2 44 21 23
i cell disease 44 23
n-acetylglucosamine 1-phosphotransferase deficiency 50
n-acetylglucosamine 1phosphotransferase deficiency 44
mucolipidosis type ii 22
type ii mucolipidosis 63
mucolipidosis type 2 50
ml disorder type 2 44
ml ii alpha/beta 20
leroy disease 44
gnpta 44
ml ii 20
mlii 22
ml 2 44
icd 44


External Ids:

OMIM48 252500
MESH via Orphanet37 C538602
ICD10 via Orphanet27 E77.0
SNOMED-CT via Orphanet60 70199000
UMLS via Orphanet64 C0020725, C2931894

Related Diseases for Mucolipidosis Ii

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18GeneCards, 19GeneDecks
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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 92)
idRelated DiseaseScoreTop Affiliating Genes
1mucolipidosis31.8GNPTG, GNPTAB
2mucolipidosis iii alpha/beta30.3GNPTG, GNPTAB
3hyperparathyroidism10.4
4brugada syndrome10.3
5craniosynostosis10.2
6long qt syndrome10.2
7cystinosis10.2
8dilated cardiomyopathy10.2
9left ventricular noncompaction10.2
10mucosulfatidosis10.1ARSH
11acid sphingomyelinase deficiency10.1SMPD1
12rickets10.1
13mongolian spot10.1
14cholestasis10.1
15hepatitis10.1
16hydrocephalus10.1
17hypertension10.1
18pacman dysplasia10.1
19skeletal dysplasias10.1
20coronary artery disease10.1
21arrhythmogenic right ventricular dysplasia10.1
22artery disease10.1
23melanoma10.1
24skin melanoma10.1
25speech disorder10.1GNPTAB, GNPTG
26reactive arthritis10.1
27infantile recurrent chronic multifocal osteomyolitis10.0
28sphingolipidosis10.0ADPRH, NPC1
29niemann-pick disease10.0SMPD1, NPC1
30metachromatic leukodystrophy10.0ARSH, SUMF1
31gaucher's disease10.0SMPD1, ADPRH, ARSH
32mucopolysaccharidosis10.0ARSH, SUMF1
33pancreatitis10.0CTSB, CASR
34alzheimer's disease9.9SMPD1, ADPRH, NPC1, CTSB
35colon cancer9.9CTSB, CASR, ADPRH
36myoma9.9
37choroid plexus papilloma9.9
38ganglioglioma9.9
39dextrocardia9.9
40nocardiosis9.9
41adjustment disorder9.9
42tetralogy of fallot9.9
43chronic myeloid leukemia9.9
44hypertensive heart disease9.9
45xerophthalmia9.9
46cutaneous fibrous histiocytoma9.9
47danon disease9.9
48trichotillomania9.9
49short qt syndrome9.9
50nicotine dependence9.9

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



Diseases related to mucolipidosis ii

Symptoms for Mucolipidosis Ii

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

252500

Clinical features from OMIM:

252500

Symptoms:

50 (show all 29)
  • epicanthic folds
  • lipidosis/sulfatidosis
  • structural anomalies of the nervous system
  • hirsutism/hypertrichosis/increased body hair
  • thin skin
  • tight skin/lack of elasticity
  • corneal dystrophy
  • broad alveolar ridge
  • wrist/carpal anomalies
  • cavernous/tuberous hemangioma
  • heart/cardiac failure
  • anomalies of chest/thorax/trunk
  • corneal ulceration/perforation
  • 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
  • autosomal recessive inheritance

Drugs & Therapeutics for Mucolipidosis Ii

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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21GeneTests, 23GTR
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Genetic tests related to Mucolipidosis Ii:

id Genetic test Affiliating Genes
1 Mucolipidosis Ii21 23 GNPTAB
2 I Cell Disease23

Anatomical Context for Mucolipidosis Ii

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34MalaCards
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MalaCards organs/tissues related to Mucolipidosis Ii:

34
Bone, Skin, Liver, Heart, Brain

Animal Models for Mucolipidosis Ii or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Mucolipidosis Ii:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.3CTSB, NPC1, CASR, GNPTAB
2MP:00053978.1SMPD1, GNPTAB, SUMF1, CASR, NPC1
3MP:00036317.6SMPD1, GNPTAB, SUMF1, NPC1, CTSB
4MP:00053867.5SMPD1, SUMF1, CASR, NPC1, CTSB
5MP:00053787.4SMPD1, GNPTAB, SUMF1, CASR, NPC1, CTSB
6MP:00053847.1SMPD1, GNPTG, GNPTAB, SUMF1, CASR, NPC1
7MP:00053876.9CTSB, SMPD1, GNPTAB, SUMF1, ADPRH, CASR

Publications for Mucolipidosis Ii

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53PubMed
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Articles related to Mucolipidosis Ii:

(show top 50)    (show all 113)
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
Should neonatal hyperparathyroidism associated with mucolipidosis II/III be treated pharmacologically?a. (23729602)
2013
3
A novel intermediate mucolipidosis II/IIII+I^ caused by GNPTAB mutation in the cytosolic N-terminal domain. (24045841)
2013
4
Decreased bone formation and increased osteoclastogenesis cause bone loss in mucolipidosis II. (24127423)
2013
5
Excessive activity of cathepsin K is associated with cartilage defects in a zebrafish model of mucolipidosis II. (22046029)
2012
6
Unusual pulmonary findings in mucolipidosis II. (22162509)
2012
7
Diagnostic strategy for mucolipidosis II/III. (22728628)
2012
8
Elevated Bone Turnover in an Infantile Patient with Mucolipidosis II; No Association with Hyperparathyroidism. (23926388)
2011
9
Mucolipidosis II complicated by severe pulmonary hypertension. (21802970)
2011
10
A compound heterozygous GNPTAB mutation causes mucolipidosis II with marked hair color change in a Han Chinese baby. (21416587)
2011
11
Prenatal transient alveolomaxillary defect in a case of mucolipidosis II (I-cell disease). (20205156)
2010
12
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
13
Molecular analysis of cell lines from patients with mucolipidosis II and mucolipidosis III. (19938078)
2009
14
Inhibition of autophagosome formation restores mitochondrial function in mucolipidosis II and III skin fibroblasts. (19656701)
2009
15
Molecular order in mucolipidosis II and III nomenclature. (18203164)
2008
16
An Alu insertion in compound heterozygosity with a microduplication in GNPTAB gene underlies Mucolipidosis II. (17964840)
2008
17
Mucolipidosis II presenting as severe neonatal hyperparathyroidism. (15580357)
2005
18
Mucolipidosis II (I - cell disease). (16333203)
2005
19
Inheritance, biochemical abnormalities, and clinical features of feline mucolipidosis II: the first animal model of human I-cell disease. (14557388)
2003
20
Mucolipidosis II (20301728)
1993
21
Bone changes of mucolipidosis II at different ages. Postmortem study of three cases. (1537168)
1992
22
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
23
A variant of mucolipidosis. II. Clinical, biochemical and pathological investigations. (2839346)
1988
24
Impaired neutrophil chemotaxis in two patients with mucolipidosis II. (3394518)
1988
25
Effects of flavonoids on enzyme secretion and endocytosis in normal and mucolipidosis II fibroblasts. (3736343)
1986
26
Fetal mucolipidosis II (I-cell disease): radiologic and pathologic correlation. (3080723)
1986
27
Increased serum hexosaminidase in a woman pregnant with fetus affected by mucolipidosis II (I-cell disease) (6472431)
1984
28
Transport and processing of beta-hexosaminidase in normal and mucolipidosis-II cultured fibroblasts. Effect of monensin and nigericin. (6231921)
1984
29
Heterogeneity in mucolipidosis II (I-cell disease). (6839528)
1983
30
Mucolipidosis II and III. The genetic relationships between two disorders of lysosomal enzyme biosynthesis. (6309902)
1983
31
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
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
Comparison of the alpha-mannosidases in fibroblast cultures from patients with mannosidosis and mucolipidosis II and from controls. (7396862)
1980
35
Deficiency of methylumbelliferyl-alpha-Neuraminic acid neuraminidase in the sialidoses and mucolipidosis II and III. (7353573)
1980
36
Neonatal mucolipidosis II (I-cell disease): clinical, radiological and biochemical studies in a case. (7410106)
1980
37
Endocytosis of beta-N-acetylglucosaminidase from sections of mucolipidosis-II and-III fibroblasts by non-parenchymal rat liver cells. (496912)
1979
38
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
39
Altered serum alpha-D-mannosidase activity in mucolipidosis II and mucolipidosis III. (27178)
1978
40
Radiological signs of mucolipidosis II or I-cell disease. A study of nine cases. (673536)
1978
41
Picture of the month: I-cell disease (mucolipidosis II). (910768)
1977
42
Mucolipidosis II (Leroy-Opitz diseases, I cell disease) a case. (98417)
1977
43
Deficit in neuraminidase associated with mucolipidosis II (I-cell disease). (990381)
1976
44
Ocular involvement in I-cell disease (mucolipidosis II). Light and electron microscopic findings. (1083152)
1976
45
Abnormal lysosomal hydrolases excreted by cultured fibroblasts in I-cell disease (mucolipidosis II). (1201084)
1975
46
I-cell disease (mucolipidosis II):a report on its pathology. (3084)
1975
47
Mucolipidosis II (I-cell disease). A clinical and biochemical study. (4275378)
1974
48
I-cell disease (mucolipidosis II): a lysosomopathy. (4372583)
1974
49
Analysis of N-acetyl- -D-glucosaminidase in mucolipidosis II (I-cell disease). (4708053)
1973
50
Hepatic ultrastructure and histochemistry in mucolipidosis II (I-cell disease). (4122673)
1973

Variations for Mucolipidosis Ii

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Mucolipidosis Ii:

65
id Symbol AA change Variation ID SNP ID
1GNPTABp.Lys1236MetVAR_027511
2GNPTABp.Leu1001ProVAR_062814
3GNPTABp.Trp81LeuVAR_070831
4GNPTABp.Lys732AsnVAR_070833
5GNPTABp.Arg986CysVAR_070834

Clinvar genetic disease variations for Mucolipidosis Ii:

1 (show all 93)
id Gene Name Type Significance SNP ID Assembly Location
1GNPTABNM_024312.4(GNPTAB): c.310C> T (p.Gln104Ter)single nucleotide variantPathogenicrs137852896GRCh37Chr 12, 102183729: 102183729
2GNPTABNM_024312.4(GNPTAB): c.3565C> T (p.Arg1189Ter)single nucleotide variantPathogenicrs137852897GRCh37Chr 12, 102147187: 102147187
3GNPTABNM_024312.4(GNPTAB): c.3173C> G (p.Ser1058Ter)single nucleotide variantPathogenicrs137852898GRCh37Chr 12, 102153884: 102153884
4GNPTABNM_024312.4(GNPTAB): c.3474_3475delTA (p.His1158Glnfs)deletionPathogenicrs281865038GRCh37Chr 12, 102147277: 102147278
5GNPTABNM_024312.4(GNPTAB): c.2681G> A (p.Trp894Ter)single nucleotide variantPathogenicrs137852899GRCh37Chr 12, 102158014: 102158014
6GNPTABNM_024312.4(GNPTAB): c.2715+1G> Asingle nucleotide variantPathogenicrs281865031GRCh37Chr 12, 102157979: 102157979
7GNPTABNM_024312.4(GNPTAB): c.2574_2575delGA (p.Asn859Glnfs)deletionPathogenicrs281865029GRCh37Chr 12, 102158120: 102158121
8GNPTABNM_024312.4(GNPTAB): c.1625_1626insC (p.Glu542Aspfs)insertionPathogenicrs281865027GRCh37Chr 12, 102159069: 102159070
9GNPTABNM_024312.4(GNPTAB): c.3503_3504delTC (p.Leu1168Glnfs)deletionPathogenicrs34002892GRCh37Chr 12, 102147248: 102147249
10GNPTABNM_024312.4(GNPTAB): c.3335+1G> Asingle nucleotide variantPathogenicrs34940801GRCh37Chr 12, 102151349: 102151349
11GNPTABNM_024312.4(GNPTAB): c.3335+6T> Gsingle nucleotide variantPathogenicrs34788341GRCh37Chr 12, 102151344: 102151344
12GNPTABNM_024312.4(GNPTAB): c.1120T> C (p.Phe374Leu)single nucleotide variantPathogenicrs137852900GRCh37Chr 12, 102163963: 102163963
13GNPTABNM_024312.4(GNPTAB): c.118-2A> Gsingle nucleotide variantPathogenicrs281865023GRCh37Chr 12, 102190542: 102190542
14GNPTABNM_024312.4(GNPTAB): c.1580delC (p.Cys528Valfs)deletionPathogenicrs36007394GRCh37Chr 12, 102159901: 102159901
15GNPTABNM_024312.4(GNPTAB): c.1738_1741[3] (p.Ser581Ilefs)undetermined variantPathogenicrs397507443GRCh37Chr 12, 102158954: 102158957
16GNPTABNM_024312.4(GNPTAB): c.2188delTinsAAA (p.Leu730Lysfs)indelPathogenicrs34161232GRCh37Chr 12, 102158507: 102158507
17GNPTABNM_024312.4(GNPTAB): c.2533C> T (p.Gln845Ter)single nucleotide variantPathogenicrs281865028GRCh37Chr 12, 102158162: 102158162
18GNPTABNM_024312.4(GNPTAB): c.2659dupA (p.Ser887Lysfs)duplicationPathogenicrs281865030GRCh37Chr 12, 102158035: 102158036
19GNPTABNM_024312.4(GNPTAB): c.2917dupT (p.Glu975Terfs)duplicationPathogenicrs281865032GRCh37Chr 12, 102155123: 102155124
20GNPTABNM_024312.4(GNPTAB): c.3145_3146insC (p.Gly1049Alafs)insertionPathogenicrs281865033GRCh37Chr 12, 102153911: 102153912
21GNPTABNM_024312.4(GNPTAB): c.3231_3234dupCTAC (p.Tyr1079Leufs)duplicationPathogenicrs34256381GRCh37Chr 12, 102153823: 102153826
22GNPTABNM_024312.4(GNPTAB): c.3249+1G> Asingle nucleotide variantPathogenicrs281865012GRCh37Chr 12, 102153807: 102153807
23GNPTABNM_024312.4(GNPTAB): c.3252delA (p.Pro1085Argfs)deletionPathogenicrs281865035GRCh37Chr 12, 102151433: 102151433
24GNPTABNM_024312.4(GNPTAB): c.3434+1G> Asingle nucleotide variantPathogenicrs281865036GRCh37Chr 12, 102150989: 102150989
25GNPTABNM_024312.4(GNPTAB): c.3567dupA (p.Asn1190Lysfs)duplicationPathogenicrs281865039GRCh37Chr 12, 102147185: 102147186
26GNPTABNM_024312.4(GNPTAB): c.3613C> T (p.Arg1205Ter)single nucleotide variantPathogenicrs35333334GRCh37Chr 12, 102142959: 102142959
27GNPTABNM_024312.4(GNPTAB): c.555_556ins296insertionPathogenicGRCh37Chr 12, 102179805: 102179806
28GNPTABNM_024312.4(GNPTAB): c.616_619delACAG (p.Thr206Tyrfs)deletionPathogenicrs281865024GRCh37Chr 12, 102174352: 102174355
29GNPTABNM_024312.4(GNPTAB): c.848delA (p.Thr284Leufs)deletionPathogenicrs34517004GRCh37Chr 12, 102164859: 102164859
30GNPTABNM_024312.4(GNPTAB): c.1001G> T (p.Arg334Leu)single nucleotide variantPathogenicrs281864970GRCh37Chr 12, 102164296: 102164296
31GNPTABNM_024312.4(GNPTAB): c.1042A> C (p.Ile348Leu)single nucleotide variantPathogenicrs7958709GRCh37Chr 12, 102164255: 102164255
32GNPTABNM_024312.4(GNPTAB): c.1090C> T (p.Arg364Ter)single nucleotide variantPathogenicrs200646278GRCh37Chr 12, 102164207: 102164207
33GNPTABNM_024312.4(GNPTAB): c.1123C> T (p.Arg375Ter)single nucleotide variantPathogenicrs397507447GRCh37Chr 12, 102163960: 102163960
34GNPTABNM_024312.4(GNPTAB): c.(?_118)_(203_?)dup (p.Leu(?_69)_Leu(69_?)Trpfs)duplicationPathogenicGRCh37Chr 12, 102190455: 102190540
35GNPTABNM_024312.4(GNPTAB): c.1191_1194dupGCTG (p.Ser399Alafs)duplicationPathogenicrs281864971GRCh37Chr 12, 102163889: 102163892
36GNPTABNM_024312.4(GNPTAB): c.1206dupT (p.Ile403Tyrfs)duplicationPathogenicrs281864972GRCh37Chr 12, 102163876: 102163877
37GNPTABNM_024312.4(GNPTAB): c.121delG (p.Val41Phefs)deletionPathogenicrs281864948GRCh37Chr 12, 102190537: 102190537
38GNPTABNM_024312.4(GNPTAB): c.1331dupG (p.Ser445Phefs)duplicationPathogenicrs281864976GRCh37Chr 12, 102161891: 102161892
39GNPTABNM_024312.4(GNPTAB): c.136C> T (p.Arg46Ter)single nucleotide variantPathogenicrs78347057GRCh37Chr 12, 102190522: 102190522
40GNPTABNM_024312.4(GNPTAB): c.1381T> G (p.Cys461Gly)single nucleotide variantPathogenicrs281864977GRCh37Chr 12, 102161842: 102161842
41GNPTABNM_024312.4(GNPTAB): c.1399delG (p.Asp467Ilefs)deletionPathogenicrs397507448GRCh37Chr 12, 102161824: 102161824
42GNPTABNM_024312.4(GNPTAB): c.1519C> T (p.Gln507Ter)single nucleotide variantPathogenicrs281864981GRCh37Chr 12, 102159962: 102159962
43GNPTABNM_024312.4(GNPTAB): c.163dupT (p.Ser55Phefs)duplicationPathogenicrs281864949GRCh37Chr 12, 102190494: 102190495
44GNPTABNM_024312.4(GNPTAB): c.171delA (p.Asp58Thrfs)deletionPathogenicrs281864951GRCh37Chr 12, 102190487: 102190487
45GNPTABNM_024312.4(GNPTAB): c.1759C> T (p.Arg587Ter)single nucleotide variantPathogenicrs281864982GRCh37Chr 12, 102158936: 102158936
46GNPTABNM_024312.4(GNPTAB): c.1959_1962delTAGT (p.Ser654Profs)deletionPathogenicrs281864983GRCh37Chr 12, 102158733: 102158736
47GNPTABNM_024312.4(GNPTAB): c.1965delC (p.Ile656Terfs)deletionPathogenicrs281864984GRCh37Chr 12, 102158730: 102158730
48GNPTABNM_024312.4(GNPTAB): c.1999G> T (p.Glu667Ter)single nucleotide variantPathogenicrs281864985GRCh37Chr 12, 102158696: 102158696
49GNPTABNM_024312.4(GNPTAB): c.1999_2000insT (p.Glu667Valfs)insertionPathogenicrs281864986GRCh37Chr 12, 102158695: 102158696
50GNPTABNM_024312.4(GNPTAB): c.2089dupC (p.Leu697Profs)duplicationPathogenicrs281864987GRCh37Chr 12, 102158605: 102158606
51GNPTABNM_024312.4(GNPTAB): c.2196G> T (p.Lys732Asn)single nucleotide variantPathogenicrs281864989GRCh37Chr 12, 102158499: 102158499
52GNPTABNM_024312.4(GNPTAB): c.2220_2221dupGA (p.Met741Argfs)duplicationPathogenicrs281864990GRCh37Chr 12, 102158473: 102158474
53GNPTABNM_024312.4(GNPTAB): c.2249dupA (p.Asn750Lysfs)duplicationPathogenicrs281864991GRCh37Chr 12, 102158445: 102158446
54GNPTABNM_024312.4(GNPTAB): c.2275_2276delAA (p.Asn759Terfs)deletionPathogenicrs281864992GRCh37Chr 12, 102158419: 102158420
55GNPTABNM_024312.4(GNPTAB): c.2422delC (p.Leu808Trpfs)deletionPathogenicrs281864993GRCh37Chr 12, 102158273: 102158273
56GNPTABNM_024312.4(GNPTAB): c.2427delC (p.Leu810Trpfs)deletionPathogenicrs281864994GRCh37Chr 12, 102158268: 102158268
57GNPTABNM_024312.4(GNPTAB): c.2544delA (p.Glu849Lysfs)deletionPathogenicrs281864995GRCh37Chr 12, 102158151: 102158151
58GNPTABNM_024312.4(GNPTAB): c.2550_2554delGAAAA (p.Lys850Asnfs)deletionPathogenicrs281864996GRCh37Chr 12, 102158141: 102158145
59GNPTABNM_024312.4(GNPTAB): c.2664C> G (p.Tyr888Ter)single nucleotide variantPathogenicrs281864998GRCh37Chr 12, 102158031: 102158031
60GNPTABNM_024312.4(GNPTAB): c.2693dupA (p.Tyr899Valfs)duplicationPathogenicrs281864999GRCh37Chr 12, 102158001: 102158002
61GNPTABNM_024312.4(GNPTAB): c.3002T> C (p.Leu1001Pro)single nucleotide variantPathogenicrs281865006GRCh37Chr 12, 102155038: 102155038
62GNPTABNM_024312.4(GNPTAB): c.3061C> T (p.Gln1021Ter)single nucleotide variantPathogenicrs281865008GRCh37Chr 12, 102154979: 102154979
63GNPTABNM_024312.4(GNPTAB): c.3091C> T (p.Arg1031Ter)single nucleotide variantPathogenicrs281865009GRCh37Chr 12, 102154949: 102154949
64GNPTABNM_024312.4(GNPTAB): c.3160C> G (p.Leu1054Val)single nucleotide variantPathogenicrs281865010GRCh37Chr 12, 102153897: 102153897
65GNPTABNM_024312.4(GNPTAB): c.3232delT (p.Tyr1078Thrfs)deletionPathogenicrs281865011GRCh37Chr 12, 102153825: 102153825
66GNPTABNM_024312.4(GNPTAB): c.3249+1G> Csingle nucleotide variantPathogenicrs281865012GRCh37Chr 12, 102153807: 102153807
67GNPTABNM_024312.4(GNPTAB): c.3310delG (p.Ala1104Hisfs)deletionPathogenicrs281865013GRCh37Chr 12, 102151375: 102151375
68GNPTABNM_024312.4(GNPTAB): c.3328dupA (p.Tyr1111Ilefs)duplicationPathogenicrs281865014GRCh37Chr 12, 102151357: 102151358
69GNPTABNM_024312.4(GNPTAB): c.3410T> A (p.Leu1137Ter)single nucleotide variantPathogenicrs142065232GRCh37Chr 12, 102151014: 102151014
70GNPTABNM_024312.4(GNPTAB): c.3428dupA (p.Asn1143Lysfs)duplicationPathogenicrs281865017GRCh37Chr 12, 102150995: 102150996
71GNPTABNM_024312.4(GNPTAB): c.342_343delCA (p.Thr115Asnfs)deletionPathogenicrs281864954GRCh37Chr 12, 102182348: 102182349
72GNPTABNM_024312.4(GNPTAB): c.3487_3490delACAG (p.Thr1163Terfs)deletionPathogenicrs281865020GRCh37Chr 12, 102147262: 102147265
73GNPTABNM_024312.4(GNPTAB): c.3523_3529delATGTTCC (p.Met1175Profs)deletionPathogenicrs281865021GRCh37Chr 12, 102147223: 102147229
74GNPTABNM_024312.4(GNPTAB): c.3741_3744delAGAA (p.Glu1248Leufs)deletionPathogenicrs281865022GRCh37Chr 12, 102140969: 102140972
75GNPTABNM_024312.4(GNPTAB): c.440delC (p.Asn148Thrfs)deletionPathogenicrs281864955GRCh37Chr 12, 102179921: 102179921
76GNPTABNM_024312.4(GNPTAB): c.625_629delAGGGG (p.Arg209Leufs)deletionPathogenicrs281864961GRCh37Chr 12, 102174342: 102174346
77GNPTABNM_024312.4(GNPTAB): c.637-1G> Asingle nucleotide variantPathogenicrs281864962GRCh37Chr 12, 102174065: 102174065
78GNPTABNM_024312.4(GNPTAB): c.648_651delAGAA (p.Glu217Serfs)deletionPathogenicrs281864963GRCh37Chr 12, 102174050: 102174053
79GNPTABNM_024312.4(GNPTAB): c.749dupA (p.Asn250Lysfs)duplicationPathogenicrs281864964GRCh37Chr 12, 102173951: 102173952
80GNPTABNM_024312.4: c.750+3A> Csingle nucleotide variantPathogenic
81GNPTABNM_024312.4(GNPTAB): c.755_759delCCTCT (p.Ser252Terfs)deletionPathogenicrs281864965GRCh37Chr 12, 102173942: 102173946
82GNPTABNM_024312.4(GNPTAB): c.857dupA (p.Asn287Glufs)duplicationPathogenicrs281864966GRCh37Chr 12, 102164849: 102164850
83GNPTABNM_024312.4(GNPTAB): c.914dupA (p.Asp305Glufs)duplicationPathogenicrs281864967GRCh37Chr 12, 102164792: 102164793
84GNPTABNM_024312.4(GNPTAB): c.940C> T (p.Gln314Ter)single nucleotide variantPathogenicrs281864968GRCh37Chr 12, 102164357: 102164357
85GNPTABNM_024312.4(GNPTAB): c.2864C> T (p.Ala955Val)single nucleotide variantPathogenicrs138390866GRCh37Chr 12, 102155393: 102155393
86GNPTABNM_024312.4(GNPTAB): c.3392C> T (p.Ser1131Phe)single nucleotide variantPathogenicrs281865016GRCh37Chr 12, 102151032: 102151032
87GNPTABNM_024312.4(GNPTAB): c.614A> C (p.Gln205Pro)single nucleotide variantPathogenicrs281864959GRCh37Chr 12, 102174357: 102174357
88GNPTABNM_024312.4(GNPTAB): c.1402T> A (p.Cys468Ser)single nucleotide variantPathogenicrs281864979GRCh37Chr 12, 102161821: 102161821
89GNPTABNM_024312.4(GNPTAB): c.2189delT (p.Leu730Cysfs)deletionPathogenicrs281864988GRCh37Chr 12, 102158506: 102158506
90GNPTABNM_024312.4(GNPTAB): c.2591_2592insG (p.Asn865Lysfs)insertionPathogenicrs281864997GRCh37Chr 12, 102158103: 102158104
91GNPTABNM_024312.4(GNPTAB): c.3053A> G (p.Asp1018Gly)single nucleotide variantPathogenicrs281865007GRCh37Chr 12, 102154987: 102154987
92GNPTABNM_024312.4(GNPTAB): c.3336-1G> Csingle nucleotide variantPathogenicrs397507562GRCh37Chr 12, 102151089: 102151089
93GNPTABGNPTAB: c.1895C> Gsingle nucleotide variantPathogenic

Expression for genes affiliated with Mucolipidosis Ii

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Sources:
2BioGPS, 16Gene 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

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Sources:
51PathCards, 56Reactome, 52PharmGKB, 39NCBI BioSystems Database, 31KEGG
See all sources

Compounds for genes affiliated with Mucolipidosis Ii

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Sources:
46Novoseek, 25HMDB, 12DrugBank, 30IUPHAR, 3BitterDB, 52PharmGKB
See all sources

Compounds related to Mucolipidosis Ii according to GeneCards/GeneDecks:

(show all 26)
idCompoundScoreTop Affiliating Genes
1formylglycine469.9SUMF1, ARSH
2glucuronic acid469.9ARSH, ADPRH
3epoxide469.8ADPRH, ARSH
4glucosamine46 25 1211.8ARSH, ADPRH
5n-acetylglucosamine469.7GNPTAB, GNPTG
6ganglioside469.7SMPD1, NPC1
7mannose469.6ADPRH, GNPTAB, SMPD1
8leupeptin469.5CTSB, SMPD1
9imidazole469.4CTSB, ADPRH
10atropine46 30 1211.3ADPRH, CTSB
11guanidine hydrochloride469.3CTSB, ADPRH
12amide469.1CTSB, ADPRH
13histidine469.1ARSH, CTSB, ADPRH
14hydrogen46 259.9CASR, CTSB, ARSH
15aspartate468.9SMPD1, ADPRH, CTSB
16pge2468.8CTSB, CASR, SMPD1
17chloroquine46 3 52 30 1212.8ADPRH, CTSB
18cholesterol46 30 25 1211.8SMPD1, NPC1, CTSB, ARSH
19leucine468.7SMPD1, CASR, CTSB
20h2o2468.7CTSB, ADPRH, SMPD1
21oxygen46 259.7SMPD1, SUMF1, CTSB, ARSH
22arginine468.1ARSH, CTSB, CASR, ADPRH, SMPD1
23serine468.1SMPD1, ADPRH, CASR, CTSB, ARSH
24calcium46 52 25 1211.0SMPD1, SUMF1, CASR, CTSB, ARSH
25mannose 6-phosphate46 259.0CTSB, NPC1, ADPRH, GNPTAB, GNPTG, SMPD1
26cysteine467.1SMPD1, SUMF1, ADPRH, CASR, NPC1, CTSB

GO Terms for genes affiliated with Mucolipidosis Ii

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Sources:
17Gene Ontology
See all sources

Biological processes related to Mucolipidosis Ii according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1carbohydrate phosphorylationGO:0468359.8GNPTAB, GNPTG
2glycosphingolipid metabolic processGO:0066879.1ARSH, SUMF1, SMPD1
3sphingolipid metabolic processGO:0066658.9ARSH, SUMF1, SMPD1

Products for genes affiliated with Mucolipidosis Ii

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mucolipidosis Ii

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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