ICD
MCID: MCL015
MIFTS: 66

Mucolipidosis Ii (ICD) malady

Genetic diseases, Rare diseases, Bone diseases, Metabolic diseases, Fetal diseases, Neuronal diseases, Eye diseases categories
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Summaries for Mucolipidosis Ii

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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 based summary: Mucolipidosis Ii, also known as inclusion cell disease, is related to mucolipidosis and mucolipidosis iii alpha/beta, and has symptoms including coarse face, corneal ulceration/perforation and anomalies of chest/thorax/trunk. 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:46 252500

GeneReviews summary for ml2

Aliases & Classifications for Mucolipidosis Ii

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Sources:
19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Mucolipidosis Ii, Aliases & Descriptions:

Name: Mucolipidosis Ii 19 21
Inclusion Cell Disease 19 42 21 62
Mucolipidosis 2 42 20 22 62
I-Cell Disease 19 21 44 48
Mucolipidosis Ii Alpha/beta 19 21 46
I Cell Disease 42 22
N-Acetylglucosamine-1-Phosphotransferase Deficiency 62
N-Acetylglucosamine 1-Phosphotransferase Deficiency 48
N-Acetylglucosamine 1phosphotransferase Deficiency 42
Type Ii Mucolipidosis 62
 
Mucolipidosis Type Ii 21
Mucolipidosis Type 2 48
Ml Disorder Type 2 42
Ml Ii Alpha/beta 19
Leroy Disease 42
Gnpta 42
Ml Ii 19
Mlii 21
Ml 2 42
Icd 42


Classifications:



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


External Ids:

OMIM46 252500
MESH via Orphanet35 C538602
ICD10 via Orphanet26 E77.0
UMLS via Orphanet63 C0020725, C2931894

Related Diseases for Mucolipidosis Ii

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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 89)
idRelated DiseaseScoreTop Affiliating Genes
1mucolipidosis32.2GNPTG, GNPTAB
2mucolipidosis iii alpha/beta30.6GNPTG, GNPTAB
3mucosulfatidosis10.4ARSH
4acid sphingomyelinase deficiency10.4SMPD1
5hyperparathyroidism10.4
6brugada syndrome10.3
7speech disorder10.3GNPTAB, GNPTG
8craniosynostosis10.3
9mannosidosis10.3
10long qt syndrome10.2
11cystinosis10.2
12dilated cardiomyopathy10.2
13left ventricular noncompaction10.2
14niemann-pick disease10.2NPC1, SMPD1
15sphingolipidosis10.2ADPRH, NPC1
16niemann-pick disease type c110.2NPC1, SMPD1
17hepatitis10.1
18hydrocephalus10.1
19hypertension10.1
20pulmonary hypertension10.1
21mongolian spot10.1
22rickets10.1
23cholestasis10.1
24pacman dysplasia10.1
25skeletal dysplasias10.1
26metachromatic leukodystrophy10.1SUMF1, ARSH
27artery disease10.1
28melanoma10.1
29muscular dystrophy10.1
30skin melanoma10.1
31reactive arthritis10.1
32gaucher's disease10.1SMPD1, ARSH, ADPRH
33mucopolysaccharidosis10.1SUMF1, ARSH
34chronic myocardial ischemia9.9
35hiv-19.9
36ischemic heart disease9.9
37malignant glioma9.9
38myocardial infarction9.9
39choroid plexus papilloma9.9
40nocardiosis9.9
41adjustment disorder9.9
42tetralogy of fallot9.9
43dextrocardia9.9
44myotonic dystrophy type 19.9
45emery-dreifuss muscular dystrophy9.9
46xerophthalmia9.9
47cutaneous fibrous histiocytoma9.9
48danon disease9.9
49trichotillomania9.9
50short qt syndrome9.9

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



Diseases related to mucolipidosis ii

Symptoms for Mucolipidosis Ii

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Symptoms by clinical synopsis from OMIM:

252500

Clinical features from OMIM:

252500

Symptoms:

48 (show all 29)
  • coarse face
  • 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
  • anteverted nares/nostrils
  • long philtrum
  • thin skin
  • tight skin/lack of elasticity
  • corneal dystrophy
  • broad alveolar ridge
  • 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

HPO human phenotypes related to Mucolipidosis Ii:

(show all 86)
id Description Frequency HPO Source Accession
1 coarse facial features hallmark (90%) HP:0000280
2 abnormality of the thorax hallmark (90%) HP:0000765
3 hypertrichosis hallmark (90%) HP:0000998
4 splenomegaly hallmark (90%) HP:0001744
5 morphological abnormality of the central nervous system hallmark (90%) HP:0002011
6 hepatomegaly hallmark (90%) HP:0002240
7 short stature hallmark (90%) HP:0004322
8 cognitive impairment hallmark (90%) HP:0100543
9 hernia hallmark (90%) HP:0100790
10 corneal erosion hallmark (90%) HP:0200020
11 epicanthus typical (50%) HP:0000286
12 long philtrum typical (50%) HP:0000343
13 anteverted nares typical (50%) HP:0000463
14 thin skin typical (50%) HP:0000963
15 depressed nasal bridge typical (50%) HP:0005280
16 lack of skin elasticity typical (50%) HP:0100679
17 broad alveolar ridges occasional (7.5%) HP:0000187
18 cavernous hemangioma occasional (7.5%) HP:0001048
19 corneal dystrophy occasional (7.5%) HP:0001131
20 congestive heart failure occasional (7.5%) HP:0001635
21 abnormality of the heart valves occasional (7.5%) HP:0001654
22 weight loss occasional (7.5%) HP:0001824
23 recurrent respiratory infections occasional (7.5%) HP:0002205
24 kyphosis occasional (7.5%) HP:0002808
25 abnormality of the wrist occasional (7.5%) HP:0003019
26 autosomal recessive inheritance HP:0000007
27 inguinal hernia HP:0000023
28 macroglossia HP:0000158
29 coarse facial features HP:0000280
30 epicanthus HP:0000286
31 narrow forehead HP:0000341
32 long philtrum HP:0000343
33 high forehead HP:0000348
34 recurrent otitis media HP:0000403
35 anteverted nares HP:0000463
36 megalocornea HP:0000485
37 sparse eyebrow HP:0000535
38 hypoplastic scapulae HP:0000882
39 osteopenia HP:0000938
40 cavernous hemangioma HP:0001048
41 split hand HP:0001171
42 neonatal hypotonia HP:0001319
43 carpal bone hypoplasia HP:0001498
44 failure to thrive HP:0001508
45 umbilical hernia HP:0001537
46 protuberant abdomen HP:0001538
47 diastasis recti HP:0001540
48 abnormality of the rib cage HP:0001547
49 hoarse voice HP:0001609
50 congestive heart failure HP:0001635
51 hypertrophic cardiomyopathy HP:0001639
52 cardiomegaly HP:0001640
53 aortic regurgitation HP:0001659
54 splenomegaly HP:0001744
55 talipes equinovarus HP:0001762
56 myelopathy HP:0002196
57 hepatomegaly HP:0002240
58 thickened calvaria HP:0002684
59 large sella turcica HP:0002690
60 pathologic fracture HP:0002756
61 hip dislocation HP:0002827
62 recurrent bronchitis HP:0002837
63 flared iliac wings HP:0002869
64 metaphyseal widening HP:0003016
65 short long bones HP:0003026
66 flat acetabular roof HP:0003180
67 deficiency of n-acetylglucosamine-1-phosphotransferase HP:0003264
68 ovoid vertebral bodies HP:0003300
69 hypoplasia of the odontoid process HP:0003311
70 increased serum beta-hexosaminidase HP:0003333
71 atlantoaxial dislocation HP:0003414
72 thoracolumbar kyphoscoliosis HP:0003423
73 increased serum iduronate sulfatase activity HP:0003538
74 beaking of vertebral bodies t12-l3 HP:0004562
75 depressed nasal bridge HP:0005280
76 varus deformity of humeral neck HP:0006362
77 recurrent pneumonia HP:0006532
78 wide intermamillary distance HP:0006610
79 opacification of the corneal stroma HP:0007759
80 mucopolysacchariduria HP:0008155
81 lower thoracic interpediculate narrowness HP:0008470
82 severe postnatal growth retardation HP:0008850
83 progressive alveolar ridge hypertropy HP:0009092
84 bullet-shaped phalanges of the hand HP:0009769
85 severe global developmental delay HP:0011344
86 palpebral edema HP:0100540

Drugs & Therapeutics for Mucolipidosis Ii

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Drug clinical trials:

Search ClinicalTrials for Mucolipidosis Ii

Search NIH Clinical Center for Mucolipidosis Ii

Genetic Tests for Mucolipidosis Ii

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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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MalaCards organs/tissues related to Mucolipidosis Ii:

32
Bone, Skin, Liver, Heart, Brain, Neutrophil

Animal Models for Mucolipidosis Ii or affiliated genes

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MGI Mouse Phenotypes related to Mucolipidosis Ii:

36
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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Articles related to Mucolipidosis Ii:

(show top 50)    (show all 118)
idTitleAuthorsYear
1
A novel mouse model of a patient mucolipidosis II mutation recapitulates disease pathology. (25107912)
2014
2
Two homozygous nonsense mutations of GNPTAB gene in two Chinese families with mucolipidosis II alpha/beta using targeted next-generation sequencing. (23773965)
2013
3
Should neonatal hyperparathyroidism associated with mucolipidosis II/III be treated pharmacologically?a. (23729602)
2013
4
A novel intermediate mucolipidosis II/IIII+I^ caused by GNPTAB mutation in the cytosolic N-terminal domain. (24045841)
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
Heterogeneity in mucolipidosis II (I-cell disease). (6839528)
1983
29
Mucolipidosis II and III. The genetic relationships between two disorders of lysosomal enzyme biosynthesis. (6309902)
1983
30
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
31
Mucolipidosis II (I-cell disease): studies of muscle biopsy and muscle cultures. (6458012)
1981
32
Multiple molecular forms of lysosomal enzymes in mucolipidosis II. (7327554)
1981
33
Comparison of the alpha-mannosidases in fibroblast cultures from patients with mannosidosis and mucolipidosis II and from controls. (7396862)
1980
34
Deficiency of methylumbelliferyl-alpha-Neuraminic acid neuraminidase in the sialidoses and mucolipidosis II and III. (7353573)
1980
35
Neonatal mucolipidosis II (I-cell disease): clinical, radiological and biochemical studies in a case. (7410106)
1980
36
Endocytosis of beta-N-acetylglucosaminidase from sections of mucolipidosis-II and-III fibroblasts by non-parenchymal rat liver cells. (496912)
1979
37
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
38
Glycosaminoglycans from urine and tissues in mucolipidosis II (I-cell disease). (509723)
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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UniProtKB/Swiss-Prot genetic disease variations for Mucolipidosis Ii:

64
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:

6 (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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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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Compounds for genes affiliated with Mucolipidosis Ii

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Sources:
44Novoseek, 24HMDB, 11DrugBank, 28IUPHAR, 2BitterDB, 50PharmGKB
See all sources

Compounds related to Mucolipidosis Ii according to GeneCards/GeneDecks:

(show all 26)
idCompoundScoreTop Affiliating Genes
1formylglycine449.9SUMF1, ARSH
2glucuronic acid449.9ARSH, ADPRH
3epoxide449.8ADPRH, ARSH
4glucosamine44 24 1111.8ARSH, ADPRH
5n-acetylglucosamine449.7GNPTAB, GNPTG
6ganglioside449.7SMPD1, NPC1
7mannose449.6ADPRH, GNPTAB, SMPD1
8leupeptin449.5CTSB, SMPD1
9imidazole449.4CTSB, ADPRH
10atropine44 28 1111.3ADPRH, CTSB
11guanidine hydrochloride449.3CTSB, ADPRH
12amide449.1CTSB, ADPRH
13histidine449.1ARSH, CTSB, ADPRH
14hydrogen44 249.9CASR, CTSB, ARSH
15aspartate448.9SMPD1, ADPRH, CTSB
16pge2448.8CTSB, CASR, SMPD1
17chloroquine44 2 50 28 1112.8ADPRH, CTSB
18cholesterol44 28 24 1111.8SMPD1, NPC1, CTSB, ARSH
19leucine448.7SMPD1, CASR, CTSB
20h2o2448.7CTSB, ADPRH, SMPD1
21oxygen44 249.7SMPD1, SUMF1, CTSB, ARSH
22arginine448.1ARSH, CTSB, CASR, ADPRH, SMPD1
23serine448.1SMPD1, ADPRH, CASR, CTSB, ARSH
24calcium44 50 24 1111.0SMPD1, SUMF1, CASR, CTSB, ARSH
25mannose 6-phosphate44 249.0CTSB, NPC1, ADPRH, GNPTAB, GNPTG, SMPD1
26cysteine447.1SMPD1, SUMF1, ADPRH, CASR, NPC1, CTSB

GO Terms for genes affiliated with Mucolipidosis Ii

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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet