MCID: MCL062
MIFTS: 58

Mucolipidosis Ii Alpha/beta

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Eye diseases, Neuronal diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Mucolipidosis Ii Alpha/beta

MalaCards integrated aliases for Mucolipidosis Ii Alpha/beta:

Name: Mucolipidosis Ii Alpha/beta 53 23 24 13
I-Cell Disease 53 23 24 55 71 51
Inclusion Cell Disease 23 49 24 71
Mucolipidosis Ii 53 23 24 28
Mucolipidosis Type Ii 24 55 71
I Cell Disease 72 49 28
Icd 53 49 71
Ml Ii Alpha/beta 53 23
Mucolipidosis 2 49 69
Ml Ii 53 23
Mlii 24 71
Deficiency of N-Acetylglucosamine-1-Phosphotransferase 28
N-Acetylglucosamine 1-Phosphotransferase Deficiency 55
N-Acetylglucosamine 1phosphotransferase Deficiency 49
Mucolipidosis Type Ii Alpha/beta 55
Mucolipidosis Ii; Ml Ii 53
Type Ii Mucolipidosis 69
I-Cell Disease; Icd 53
Ml Disorder Type 2 49
Leroy Disease 49
Gnpta 49
Ml 2 49

Characteristics:

Orphanet epidemiological data:

55
mucolipidosis type ii
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe),<1/1000000 (Europe),1-9/1000000 (Portugal),1-9/1000000 (Netherlands),1-9/1000000 (Japan),1-9/100000 (Ireland),1-5/10000,<1/1000000 (Sweden); Age of onset: Neonatal; Age of death: infantile,stillbirth;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
death in childhood
death often secondary to pneumonia or congestive heart failure
carrier rate of 1 in 39 in the saguenay-lac-saint-jean region of quebec


HPO:

31
mucolipidosis ii alpha/beta:
Mortality/Aging death in childhood
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mucolipidosis Ii Alpha/beta

NIH Rare Diseases : 49 Mucolipidosis II (ML II), also known as I cell disease, is a rare and progressive metabolic disorder that involves our body’s ability to break down certain fats (mucolipids). Symptoms typically present in infancy or early childhood and include weak muscle tone (hypotonia), developmental delay, limited mobility, clubfeet, thickened skin, and short hands and fingers. ML II can also cause heart valve abnormalities and repeated respiratory infections. This reduces the individual’s ability to breathe effectively and typically results in death by early adolescence. ML II is caused by mutation in the GNPTAB gene, and is inherited in an autosomal recessive manner. ML II is diagnosed by testing the blood or urine for high levels of mucolipids, and the diagnosis can be confirmed by genetic testing. Treatment is based on relieving the signs and symptoms in each person, but early research into possible genetic therapies is promising. Last updated: 7/19/2016

MalaCards based summary : Mucolipidosis Ii Alpha/beta, also known as i-cell disease, is related to inclusion-cell disease and mucolipidosis iii alpha/beta, and has symptoms including failure to thrive, kyphosis and coarse facial features. An important gene associated with Mucolipidosis Ii Alpha/beta is GNPTAB (N-Acetylglucosamine-1-Phosphate Transferase Alpha And Beta Subunits), and among its related pathways/superpathways are Sphingolipid metabolism and Lysosome. The drugs Lamivudine and Lopinavir have been mentioned in the context of this disorder. Affiliated tissues include heart, skin and bone, and related phenotypes are behavior/neurological and cellular

OMIM : 53 Mucolipidosis type II alpha/beta is an autosomal recessive disorder characterized clinically by short stature, skeletal abnormalities, cardiomegaly, and developmental delay. The disorder is caused by a defect in proper lysosomal enzyme phosphorylation and localization, which results in accumulation of lysosomal substrates. It is phenotypically more severe than the allelic disorder mucolipidosis type III alpha/beta (summary by Paik et al., 2005). (252500)

UniProtKB/Swiss-Prot : 71 Mucolipidosis type II: Fatal, autosomal recessive, lysosomal storage disorder characterized by severe clinical and radiologic features, peculiar fibroblast inclusions, and no excessive mucopolysacchariduria. Congenital dislocation of the hip, thoracic deformities, hernia, and hyperplastic gums are evident soon after birth.

Genetics Home Reference : 24 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.

Wikipedia : 72 Inclusion-cell (I-cell) disease, also referred to as mucolipidosis II (ML II), is part of the lysosomal... more...

GeneReviews: NBK1828

Related Diseases for Mucolipidosis Ii Alpha/beta

Diseases in the Mucolipidosis Iv family:

Mucolipidosis Ii Alpha/beta Mucolipidosis Iii Alpha/beta
Mucolipidosis Iii Gamma

Diseases related to Mucolipidosis Ii Alpha/beta via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 102)
# Related Disease Score Top Affiliating Genes
1 inclusion-cell disease 31.9 GNPTAB GNPTG IGF2R PSAP
2 mucolipidosis iii alpha/beta 31.2 FUCA1 GNPTAB GNPTG GUSB
3 pacman dysplasia 11.4
4 brugada syndrome 11.2
5 catecholaminergic polymorphic ventricular tachycardia 11.2
6 hypertrophic cardiomyopathy 11.2
7 reactive arthritis 11.0
8 paraphilia disorder 10.8
9 cardiac arrest 10.8
10 impulse control disorder 10.8
11 hypertensive heart disease 10.8
12 personality disorder 10.8
13 allergic contact dermatitis 10.8
14 mood disorder 10.8
15 myofibrillar myopathy 10.8
16 carcinoid tumors, intestinal 10.8
17 papilloma of choroid plexus 10.8
18 meningioma, radiation-induced 10.8
19 meningioma, familial 10.8
20 spinal meningioma 10.8
21 sex cord-gonadal stromal tumor 10.8
22 adenofibroma 10.8
23 astrocytoma 10.8
24 cutaneous fibrous histiocytoma 10.8
25 leiomyomatosis 10.8
26 carcinoid syndrome 10.8
27 mucolipidosis iii gamma 10.4 GNPTAB GNPTG
28 articulation disorder 10.3 GNPTAB GNPTG
29 speech disorder 10.2 GNPTAB GNPTG
30 mucolipidosis iv 10.2 GM2A PSAP
31 mucopolysaccharidoses 10.1 ARSH GUSB
32 stuttering 10.1 GNPTAB GNPTG
33 blood group, i system 10.1
34 gangliosidosis gm1 10.0 NEU1 PSAP
35 glycoproteinosis 10.0 NEU1 PSAP
36 ventricular fibrillation, paroxysmal familial, 1 10.0
37 dilated cardiomyopathy 10.0
38 mucopolysaccharidosis iv 10.0 ARSH NEU1
39 mucopolysaccharidosis-plus syndrome 10.0 ARSH GUSB
40 long qt syndrome 9.9
41 sphingolipidosis 9.9 ADPRH PSAP SMPD1
42 tay-sachs disease 9.9 GM2A NEU1 PSAP
43 left ventricular noncompaction 9.9
44 metachromatic leukodystrophy 9.8 ARSH PSAP
45 arteries, anomalies of 9.8
46 tetralogy of fallot 9.8
47 coronary artery anomaly 9.8
48 arrhythmogenic right ventricular cardiomyopathy 9.8
49 short qt syndrome 9.8
50 heart disease 9.8

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



Diseases related to Mucolipidosis Ii Alpha/beta

Symptoms & Phenotypes for Mucolipidosis Ii Alpha/beta

Symptoms via clinical synopsis from OMIM:

53
Genitourinary External Genitalia Male:
inguinal hernia

Head And Neck Face:
coarse facial features
long philtrum
high, narrow forehead

Abdomen External Features:
umbilical hernia
diastasis recti
abdominal protuberance

Cardiovascular Heart:
cardiomegaly
hypertrophic cardiomyopathy
congestive heart failure
aortic insufficiency
cardiac murmur

Skin Nails Hair Skin:
cavernous hemangioma
thick, relatively tight skin

Skeletal Feet:
talipes equinovarus

Voice:
hoarse voice

Head And Neck Nose:
anteverted nostrils
low nasal bridge

Skeletal:
pathologic fractures
moderate joint limitation
osteopenia in early infancy

Skeletal Limbs:
widened metaphyses
cortical bone erosion (especially proximal femora)
long bone shortening
varus deformity of humeral neck
tilted distal ends of radius and ulna

Growth Height:
birth length less than normal
deceleration of linear growth during first year

Growth Other:
progressive failure to thrive
hurler-like body configuration
marked growth retardation

Abdomen Spleen:
minimal splenomegaly

Skeletal Hands:
broadening of wrist
brachyphalangia
hypoplasia of carpal bones
conical bullet-shaped distal ends of phalanges
claw-hand deformities

Head And Neck Mouth:
macroglossia
progressive alveolar ridge hypertrophy

Abdomen Liver:
hepatomegaly

Neurologic Central Nervous System:
neonatal hypotonia
myelopathy
developmental delay
severe psychomotor retardation

Skeletal Spine:
ovoid vertebral bodies
atlantoaxial dislocation
hypoplastic odontoid process
dorsolumbar kyphosis
narrowness of interpediculate distances in lower thoracic regions
more
Skeletal Pelvis:
hip dislocation
flared iliac wings
horizontal acetabular roofs
supra-acetabular constriction
irregular contours of pubis and ischium

Respiratory Lung:
recurrent pneumonia

Respiratory Airways:
recurrent bronchitis

Head And Neck Eyes:
epicanthal folds
puffy eyelids
increased corneal diameter
thin eyebrows
clear to faintly hazy corneas
more
Chest Breasts:
widely spaced nipples

Head And Neck Ears:
recurrent episodes of otitis media
thick, firm earlobes

Growth Weight:
birth weight less than normal

Chest RibsSternum Clavicles And Scapulae:
scapular hypoplasia
broad, spatulate-appearing ribs

Skeletal Skull:
thickened cranium
normal enlarged sella turcica

Laboratory Abnormalities:
normal to mildly increased mucopolysacchariduria
increased serum beta-hexosaminidase (10-20x)
increased serum iduronate sulfatase (10-20x)
increased serum arylsulfatase a (10-20x)
deficiency of n-acetylglucosamine-1-phosphotransferase
more

Clinical features from OMIM:

252500

Human phenotypes related to Mucolipidosis Ii Alpha/beta:

55 31 (show top 50) (show all 76)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 55 31 hallmark (90%) Very frequent (99-80%) HP:0001508
2 kyphosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002808
3 coarse facial features 55 31 hallmark (90%) Very frequent (99-80%) HP:0000280
4 splenomegaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001744
5 recurrent respiratory infections 55 31 occasional (7.5%) Occasional (29-5%) HP:0002205
6 hepatomegaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0002240
7 depressed nasal bridge 55 31 frequent (33%) Frequent (79-30%) HP:0005280
8 anteverted nares 55 31 frequent (33%) Frequent (79-30%) HP:0000463
9 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
10 mucopolysacchariduria 55 31 hallmark (90%) Very frequent (99-80%) HP:0008155
11 long philtrum 55 31 frequent (33%) Frequent (79-30%) HP:0000343
12 weight loss 55 31 occasional (7.5%) Occasional (29-5%) HP:0001824
13 opacification of the corneal stroma 55 31 occasional (7.5%) Occasional (29-5%) HP:0007759
14 hernia 55 31 hallmark (90%) Very frequent (99-80%) HP:0100790
15 broad alveolar ridges 55 31 occasional (7.5%) Occasional (29-5%) HP:0000187
16 epicanthus 55 31 frequent (33%) Frequent (79-30%) HP:0000286
17 megalocornea 55 31 occasional (7.5%) Occasional (29-5%) HP:0000485
18 abnormality of the thorax 55 31 hallmark (90%) Very frequent (99-80%) HP:0000765
19 thin skin 55 31 frequent (33%) Frequent (79-30%) HP:0000963
20 cavernous hemangioma 55 31 occasional (7.5%) Occasional (29-5%) HP:0001048
21 corneal dystrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0001131
22 carpal bone hypoplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001498
23 congestive heart failure 55 31 occasional (7.5%) Occasional (29-5%) HP:0001635
24 generalized hirsutism 55 31 hallmark (90%) Very frequent (99-80%) HP:0002230
25 short long bone 55 31 hallmark (90%) Very frequent (99-80%) HP:0003026
26 progressive alveolar ridge hypertropy 55 31 occasional (7.5%) Occasional (29-5%) HP:0009092
27 severe global developmental delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0011344
28 abnormality of nervous system morphology 55 31 hallmark (90%) Very frequent (99-80%) HP:0012639
29 lack of skin elasticity 55 31 frequent (33%) Frequent (79-30%) HP:0100679
30 corneal erosion 55 31 hallmark (90%) Very frequent (99-80%) HP:0200020
31 osteopenia 31 HP:0000938
32 inguinal hernia 31 HP:0000023
33 macroglossia 31 HP:0000158
34 umbilical hernia 31 HP:0001537
35 thickened calvaria 31 HP:0002684
36 neonatal hypotonia 31 HP:0001319
37 cardiomegaly 31 HP:0001640
38 hypertrophic cardiomyopathy 31 HP:0001639
39 abnormality of the heart valves 55 Occasional (29-5%)
40 ovoid vertebral bodies 31 HP:0003300
41 pathologic fracture 31 HP:0002756
42 wide intermamillary distance 31 HP:0006610
43 recurrent otitis media 31 HP:0000403
44 palpebral edema 31 HP:0100540
45 hip dislocation 31 HP:0002827
46 talipes equinovarus 31 HP:0001762
47 recurrent pneumonia 31 HP:0006532
48 split hand 31 HP:0001171
49 high forehead 31 HP:0000348
50 hoarse voice 31 HP:0001609

MGI Mouse Phenotypes related to Mucolipidosis Ii Alpha/beta:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.91 CTSB GM2A GNPTAB GUSB IGF2R M6PR
2 cellular MP:0005384 9.76 CTSB GNPTAB GUSB IGF2R M6PR NEU1
3 homeostasis/metabolism MP:0005376 9.61 IGF2R M6PR NEU1 PSAP SMPD1 CTSB
4 renal/urinary system MP:0005367 9.17 CTSB GNPTAB GUSB IGF2R M6PR NEU1

Drugs & Therapeutics for Mucolipidosis Ii Alpha/beta

Drugs for Mucolipidosis Ii Alpha/beta (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 43)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lamivudine Approved, Investigational Phase 3 134678-17-4 60825
2
Lopinavir Approved Phase 3 192725-17-0 92727
3 Anti-Infective Agents Phase 3,Phase 2,Not Applicable
4 Anti-HIV Agents Phase 3
5 Anti-Retroviral Agents Phase 3
6 Antiviral Agents Phase 3
7 Cytochrome P-450 CYP3A Inhibitors Phase 3
8 Cytochrome P-450 Enzyme Inhibitors Phase 3
9 HIV Protease Inhibitors Phase 3
10
protease inhibitors Phase 3
11
Busulfan Approved, Investigational Phase 2 55-98-1 2478
12
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
13
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
14
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
15
alemtuzumab Approved, Investigational Phase 2,Not Applicable 216503-57-0
16
Benzocaine Approved, Investigational Phase 2,Not Applicable 1994-09-7, 94-09-7 2337
17
Clofarabine Approved, Investigational Phase 2,Not Applicable 123318-82-1 119182
18
Hydroxyurea Approved Phase 2 127-07-1 3657
19
Melphalan Approved Phase 2,Not Applicable 148-82-3 460612 4053
20
Miconazole Approved, Investigational, Vet_approved Phase 2,Not Applicable 22916-47-8 4189
21 tannic acid Approved, Nutraceutical Phase 2,Not Applicable
22 Alkylating Agents Phase 2,Not Applicable
23 Antilymphocyte Serum Phase 2
24 Antirheumatic Agents Phase 2,Not Applicable
25 Immunosuppressive Agents Phase 2,Not Applicable
26 Methylprednisolone acetate Phase 2
27 Methylprednisolone Hemisuccinate Phase 2
28 Prednisolone acetate Phase 2
29 Prednisolone hemisuccinate Phase 2
30 Prednisolone phosphate Phase 2
31 Antifungal Agents Phase 2,Not Applicable
32 Antimetabolites Phase 2,Not Applicable
33 Antimetabolites, Antineoplastic Phase 2,Not Applicable
34 Calcineurin Inhibitors Phase 2,Not Applicable
35 Cyclosporins Phase 2,Not Applicable
36 Dermatologic Agents Phase 2,Not Applicable
37 Nucleic Acid Synthesis Inhibitors Phase 2
38
Mycophenolate mofetil Approved, Investigational Not Applicable 128794-94-5 5281078
39
Mycophenolic acid Approved Not Applicable 24280-93-1 446541
40 Anti-Bacterial Agents Not Applicable
41 Antibiotics, Antitubercular Not Applicable
42 Antitubercular Agents Not Applicable
43 Krestin

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Prospective Study of Lopinavir Based ART for HIV Infected childreN Globally (LIVING Study) Recruiting NCT02346487 Phase 3 LPV/RTV pellets and AZT/3TC or ABC/3TC
2 ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases Terminated NCT00654433 Phase 3
3 Stem Cell Transplantation for Hurler Completed NCT00176917 Phase 2 Busulfan, Cyclophosphamide, ATG
4 HSCT for High Risk Inherited Inborn Errors Completed NCT00383448 Phase 2 Clofarabine;Melphalan;Alemtuzumab;mycophenylate mofetil;Hydroxyurea
5 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900 Not Applicable
6 Reduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal Disorders Completed NCT01626092 Not Applicable Campath-1H;Clofarabine;Melphalan;Cyclosporine A;Mycophenolate mofetil
7 Longitudinal Studies of the Glycoproteinoses Recruiting NCT01891422
8 Biomarker for Mucolipidosis Disorder Type I, II, III or IV Recruiting NCT02298673

Search NIH Clinical Center for Mucolipidosis Ii Alpha/beta

Genetic Tests for Mucolipidosis Ii Alpha/beta

Genetic tests related to Mucolipidosis Ii Alpha/beta:

# Genetic test Affiliating Genes
1 I Cell Disease 28 GNPTAB
2 Mucolipidosis Ii 28
3 Deficiency of N-Acetylglucosamine-1-Phosphotransferase 28

Anatomical Context for Mucolipidosis Ii Alpha/beta

MalaCards organs/tissues related to Mucolipidosis Ii Alpha/beta:

38
Heart, Skin, Bone, Testes

Publications for Mucolipidosis Ii Alpha/beta

Articles related to Mucolipidosis Ii Alpha/beta:

(show top 50) (show all 85)
# Title Authors Year
1
I Cell Disease (Mucolipidosis II Alpha/Beta): From Screening to Molecular Diagnosis. ( 27785713 )
2017
2
Clinical and laboratory outcomes after umbilical cord blood transplantation in a patient with mucolipidosis II alpha/beta. ( 26789537 )
2016
3
Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report. ( 25606425 )
2014
4
Two homozygous nonsense mutations of GNPTAB gene in two Chinese families with mucolipidosis II alpha/beta using targeted next-generation sequencing. ( 23773965 )
2013
5
Mucolipidosis type II (I-cell disease) masquerading as rickets: two case reports and review of literature. ( 22570975 )
2012
6
Blueberry muffin rash and thrombocytopenia in a newborn with mucolipidosis type II (I-cell disease) masquerading as congenital infections. ( 21959079 )
2011
7
Prenatal transient alveolomaxillary defect in a case of mucolipidosis II (I-cell disease). ( 20205156 )
2010
8
Cytochemical analysis of storage materials in cultured skin fibroblasts from patients with I-cell disease. ( 17204262 )
2007
9
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
10
Surgical treatment of marked mitral valvar deformity combined with I-cell disease 'Mucolipidosis II'. ( 16164792 )
2005
11
Prenatal mucolipidosis type II (I-cell disease) can present as Pacman dysplasia. ( 15887289 )
2005
12
Mucolipidosis II (I - cell disease). ( 16333203 )
2005
13
Rickets-like radiological and biochemical features of neonatal mucolipidosis II (I-cell disease): report of two cases. ( 16363350 )
2005
14
Mannose 6-phosphorylated proteins are required for tumor necrosis factor-induced apoptosis: defective response in I-cell disease fibroblasts. ( 15452110 )
2004
15
Defective proximal tubular function in a patient with I-cell disease. ( 12811655 )
2003
16
Inheritance, biochemical abnormalities, and clinical features of feline mucolipidosis II: the first animal model of human I-cell disease. ( 14557388 )
2003
17
Cathepsin-L, a key molecule in the pathogenesis of drug-induced and I-cell disease-mediated gingival overgrowth: a study with cathepsin-L-deficient mice. ( 12466121 )
2002
18
A case of I-cell disease (mucolipidosis II) presenting with craniosynostosis. ( 12483356 )
2002
19
Mucolipidosis II (I-cell disease) presenting as neonatal cholestasis. ( 11757590 )
2001
20
I-cell disease (Mucolipidosis II). ( 11028124 )
2000
21
I-cell disease presenting with severe hypophosphatemia and cardiomyopathy. ( 10774999 )
2000
22
Glycosylasparaginase as a marker enzyme in the detection of I-cell disease. ( 9882166 )
1998
23
I-cell disease-like phenotype in mice deficient in mannose 6-phosphate receptors. ( 10341453 )
1998
24
Palmitoyl-protein thioesterase deficiency in fibroblasts of individuals with infantile neuronal ceroid lipofuscinosis and I-cell disease. ( 9247083 )
1997
25
Spontaneous mucolipidosis in a cat: an animal model of human I-cell disease. ( 8826001 )
1996
26
Neonatal mucolipidosis II (I-cell disease) with dysharmonic epiphyseal ossification and butterfly vertebral body. ( 8915942 )
1996
27
Inter- and intrafamilial variability in mucolipidosis II (I-cell disease). ( 7628121 )
1995
28
Phosphorylation and subcellular location of alpha-L-fucosidase in lymphoid cells from patients with I-cell disease and pseudo-Hurler polydystrophy. ( 8286862 )
1993
29
Mannose 6-phosphate-independent targeting of lysosomal enzymes in I-cell disease B lymphoblasts. ( 8408210 )
1993
30
Mannose 6-phosphate/insulin-like growth factor II receptor in I-cell disease fibroblasts: increased synthesis and defective regulation of cell surface expression. ( 1314098 )
1992
31
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
32
Biosynthesis, processing, and secretion of alpha-L-fucosidase in lymphoid cells from patients with I-cell disease and pseudo-Hurler polydystrophy. ( 1822239 )
1991
33
Cation-independent mannose 6-phosphate receptors are concentrated in trans Golgi elements in normal human and I-cell disease fibroblasts. ( 2161763 )
1990
34
Impaired cholesterol esterification in cultured skin fibroblasts from patients with I-cell disease and pseudo-Hurler polydystrophy. ( 2751679 )
1989
35
Study of the bone pathology in early mucolipidosis II (I-cell disease). ( 2744018 )
1989
36
Altered molecular size of N-acetylglucosamine 1-phosphotransferase in I-cell disease and pseudo-Hurler polydystrophy. ( 2829837 )
1987
37
Genetic mucopolysaccharidoses, mannosidosis, sialidosis, galactosialidosis, and I-cell disease. Ultrastructural analysis of cultured fibroblasts. ( 3113172 )
1987
38
Craniosynostosis and hydrocephalus in I-cell disease (mucolipidosis II). ( 3594472 )
1987
39
Fetal mucolipidosis II (I-cell disease): radiologic and pathologic correlation. ( 3080723 )
1986
40
Characterization of the mutant N-acetylglucosaminylphosphotransferase in I-cell disease and pseudo-Hurler polydystrophy: complementation analysis and kinetic studies. ( 3017692 )
1986
41
I-cell disease and pseudo-Hurler polydystrophy: heterozygote detection and characteristics of the altered N-acetyl-glucosamine-phosphotransferase in genetic variants. ( 2998644 )
1985
42
Radiological features of neonatal mucolipidosis II (I-cell disease): a case report. ( 4081110 )
1985
43
First-trimester prenatal diagnosis of mucolipidosis II (I-cell disease) by chorionic biopsy. ( 6440435 )
1984
44
I-cell disease (mucolipidosis II). Differential expression in satellite cells and mature muscle fibers. ( 6321669 )
1984
45
Increased serum hexosaminidase in a woman pregnant with fetus affected by mucolipidosis II (I-cell disease) ( 6472431 )
1984
46
Heterogeneity in mucolipidosis II (I-cell disease). ( 6839528 )
1983
47
Two clonal cell populations (mosaicism) in a 46,XY male with mucolipidosis II (I-cell disease)--an autosomal recessive disorder. ( 6125101 )
1982
48
Demonstration of the heterozygous state for I-cell disease and pseudo-Hurler polydystrophy by assay of N-acetylglucosaminylphosphotransferase in white blood cells and fibroblasts. ( 6289658 )
1982
49
Mucolipidosis II (I-cell disease): studies of muscle biopsy and muscle cultures. ( 6458012 )
1981
50
Successful cryopreservation of tissue and skin fibroblast cultures from patients with mucolipidosis II (I-cell disease). ( 7460631 )
1981

Variations for Mucolipidosis Ii Alpha/beta

UniProtKB/Swiss-Prot genetic disease variations for Mucolipidosis Ii Alpha/beta:

71
# Symbol AA change Variation ID SNP ID
1 GNPTAB p.Lys1236Met VAR_027511
2 GNPTAB p.Phe374Leu VAR_062807 rs137852900
3 GNPTAB p.Leu1001Pro VAR_062814 rs281865006
4 GNPTAB p.Trp81Leu VAR_070831 rs281864953
5 GNPTAB p.Lys732Asn VAR_070833 rs281864989
6 GNPTAB p.Arg986Cys VAR_070834 rs769587233
7 GNPTAB p.Arg334Leu VAR_073127 rs281864970
8 GNPTAB p.Asp76Gly VAR_079713
9 GNPTAB p.Ser385Leu VAR_079715

ClinVar genetic disease variations for Mucolipidosis Ii Alpha/beta:

6 (show top 50) (show all 116)
# Gene Variation Type Significance SNP ID Assembly Location
1 GNPTAB NM_024312.4(GNPTAB): c.118-2A> G single nucleotide variant Pathogenic rs281865023 GRCh37 Chromosome 12, 102190542: 102190542
2 GNPTAB NM_024312.4(GNPTAB): c.1580delC (p.Cys528Valfs) deletion Pathogenic rs36007394 GRCh37 Chromosome 12, 102159901: 102159901
3 GNPTAB NM_024312.4(GNPTAB): c.1738_1741[3] (p.Ser581Ilefs) short repeat Pathogenic rs397507443 GRCh37 Chromosome 12, 102158954: 102158957
4 GNPTAB NM_024312.4(GNPTAB): c.2188delTinsAAA (p.Leu730Lysfs) indel Pathogenic rs34161232 GRCh37 Chromosome 12, 102158507: 102158507
5 GNPTAB NM_024312.4(GNPTAB): c.2533C> T (p.Gln845Ter) single nucleotide variant Pathogenic rs281865028 GRCh37 Chromosome 12, 102158162: 102158162
6 GNPTAB NM_024312.4(GNPTAB): c.2659dupA (p.Ser887Lysfs) duplication Pathogenic rs281865030 GRCh37 Chromosome 12, 102158036: 102158036
7 GNPTAB NM_024312.4(GNPTAB): c.2916_2917insT (p.Glu975Terfs) insertion Pathogenic rs281865032 GRCh37 Chromosome 12, 102155123: 102155123
8 GNPTAB NM_024312.4(GNPTAB): c.3145_3146insC (p.Gly1049Alafs) insertion Pathogenic rs281865033 GRCh37 Chromosome 12, 102153911: 102153912
9 GNPTAB NM_024312.4(GNPTAB): c.3231_3234dupCTAC (p.Tyr1079Leufs) duplication Pathogenic rs34256381 GRCh37 Chromosome 12, 102153823: 102153826
10 GNPTAB NM_024312.4(GNPTAB): c.3249+1G> A single nucleotide variant Pathogenic rs281865012 GRCh37 Chromosome 12, 102153807: 102153807
11 GNPTAB NM_024312.4(GNPTAB): c.3252delA (p.Pro1085Argfs) deletion Pathogenic rs281865035 GRCh37 Chromosome 12, 102151433: 102151433
12 GNPTAB NM_024312.4(GNPTAB): c.3434+1G> A single nucleotide variant Pathogenic rs281865036 GRCh37 Chromosome 12, 102150989: 102150989
13 GNPTAB NM_024312.4(GNPTAB): c.3566_3567insA (p.Asn1190Lysfs) insertion Pathogenic rs281865039 GRCh37 Chromosome 12, 102147185: 102147185
14 GNPTAB NM_024312.4(GNPTAB): c.3613C> T (p.Arg1205Ter) single nucleotide variant Pathogenic rs35333334 GRCh37 Chromosome 12, 102142959: 102142959
15 GNPTAB NM_024312.4(GNPTAB): c.555_556ins296 (p.?) insertion Pathogenic GRCh37 Chromosome 12, 102179805: 102179806
16 GNPTAB NM_024312.4(GNPTAB): c.616_619delACAG (p.Thr206Tyrfs) deletion Pathogenic rs281865024 GRCh37 Chromosome 12, 102174352: 102174355
17 GNPTAB NM_024312.4(GNPTAB): c.848delA (p.Thr284Leufs) deletion Pathogenic rs34517004 GRCh37 Chromosome 12, 102164859: 102164859
18 GNPTAB NM_024312.4(GNPTAB): c.1000C> T (p.Arg334Ter) single nucleotide variant Pathogenic rs281864969 GRCh37 Chromosome 12, 102164297: 102164297
19 GNPTAB NM_024312.4(GNPTAB): c.1001G> T (p.Arg334Leu) single nucleotide variant Pathogenic rs281864970 GRCh37 Chromosome 12, 102164296: 102164296
20 GNPTAB NM_024312.4(GNPTAB): c.1090C> T (p.Arg364Ter) single nucleotide variant Pathogenic rs200646278 GRCh37 Chromosome 12, 102164207: 102164207
21 GNPTAB NM_024312.4(GNPTAB): c.1123C> T (p.Arg375Ter) single nucleotide variant Pathogenic rs397507447 GRCh37 Chromosome 12, 102163960: 102163960
22 GNPTAB NM_024312.4(GNPTAB): c.118-?_203+?dup86 duplication Pathogenic GRCh37 Chromosome 12, 102190455: 102190540
23 GNPTAB NM_024312.4(GNPTAB): c.1191_1194dupGCTG (p.Ser399Alafs) duplication Pathogenic rs281864971 GRCh37 Chromosome 12, 102163889: 102163892
24 GNPTAB NM_024312.4(GNPTAB): c.1206dupT (p.Ile403Tyrfs) duplication Pathogenic rs281864972 GRCh37 Chromosome 12, 102163877: 102163877
25 GNPTAB NM_024312.4(GNPTAB): c.121delG (p.Val41Phefs) deletion Pathogenic rs281864948 GRCh37 Chromosome 12, 102190537: 102190537
26 GNPTAB NM_024312.4(GNPTAB): c.1331dupG (p.Ser445Phefs) duplication Pathogenic rs281864976 GRCh37 Chromosome 12, 102161892: 102161892
27 GNPTAB NM_024312.4(GNPTAB): c.136C> T (p.Arg46Ter) single nucleotide variant Pathogenic rs78347057 GRCh37 Chromosome 12, 102190522: 102190522
28 GNPTAB NM_024312.4(GNPTAB): c.1381T> G (p.Cys461Gly) single nucleotide variant Pathogenic rs281864977 GRCh37 Chromosome 12, 102161842: 102161842
29 GNPTAB NM_024312.4(GNPTAB): c.1399delG (p.Asp467Ilefs) deletion Pathogenic rs397507448 GRCh37 Chromosome 12, 102161824: 102161824
30 GNPTAB NM_024312.4(GNPTAB): c.1519C> T (p.Gln507Ter) single nucleotide variant Pathogenic rs281864981 GRCh37 Chromosome 12, 102159962: 102159962
31 GNPTAB NM_024312.4(GNPTAB): c.163_164insT (p.Ser55Phefs) insertion Pathogenic rs281864949 GRCh37 Chromosome 12, 102190495: 102190495
32 GNPTAB NM_024312.4(GNPTAB): c.171delA (p.Asp58Thrfs) deletion Pathogenic rs281864951 GRCh37 Chromosome 12, 102190487: 102190487
33 GNPTAB NM_024312.4(GNPTAB): c.1759C> T (p.Arg587Ter) single nucleotide variant Pathogenic rs281864982 GRCh37 Chromosome 12, 102158936: 102158936
34 GNPTAB NM_024312.4(GNPTAB): c.1959_1962delTAGT (p.Ser654Profs) deletion Pathogenic rs281864983 GRCh37 Chromosome 12, 102158733: 102158736
35 GNPTAB NM_024312.4(GNPTAB): c.1965delC (p.Ile656Terfs) deletion Pathogenic rs281864984 GRCh37 Chromosome 12, 102158730: 102158730
36 GNPTAB NM_024312.4(GNPTAB): c.1999G> T (p.Glu667Ter) single nucleotide variant Pathogenic rs281864985 GRCh37 Chromosome 12, 102158696: 102158696
37 GNPTAB NM_024312.4(GNPTAB): c.1999_2000insT (p.Glu667Valfs) insertion Pathogenic rs281864986 GRCh37 Chromosome 12, 102158695: 102158696
38 GNPTAB NM_024312.4(GNPTAB): c.2089_2090insC (p.Leu697Profs) insertion Pathogenic rs281864987 GRCh37 Chromosome 12, 102158606: 102158606
39 GNPTAB NM_024312.4(GNPTAB): c.2196G> T (p.Lys732Asn) single nucleotide variant Pathogenic rs281864989 GRCh37 Chromosome 12, 102158499: 102158499
40 GNPTAB NM_024312.4(GNPTAB): c.2220_2221dupGA (p.Met741Argfs) duplication Pathogenic rs281864990 GRCh37 Chromosome 12, 102158474: 102158475
41 GNPTAB NM_024312.4(GNPTAB): c.2249_2250insA (p.Asn750Lysfs) insertion Pathogenic rs281864991 GRCh37 Chromosome 12, 102158446: 102158446
42 GNPTAB NM_024312.4(GNPTAB): c.2275_2276delAA (p.Asn759Terfs) deletion Pathogenic rs281864992 GRCh37 Chromosome 12, 102158419: 102158420
43 GNPTAB NM_024312.4(GNPTAB): c.2422delC (p.Leu808Trpfs) deletion Pathogenic rs281864993 GRCh37 Chromosome 12, 102158273: 102158273
44 GNPTAB NM_024312.4(GNPTAB): c.2427delC (p.Leu810Trpfs) deletion Pathogenic rs281864994 GRCh37 Chromosome 12, 102158268: 102158268
45 GNPTAB NM_024312.4(GNPTAB): c.2544delA (p.Glu849Lysfs) deletion Pathogenic rs281864995 GRCh37 Chromosome 12, 102158151: 102158151
46 GNPTAB NM_024312.4(GNPTAB): c.2550_2554delGAAAA (p.Lys850Asnfs) deletion Pathogenic/Likely pathogenic rs281864996 GRCh37 Chromosome 12, 102158141: 102158145
47 GNPTAB NM_024312.4(GNPTAB): c.2664C> G (p.Tyr888Ter) single nucleotide variant Pathogenic rs281864998 GRCh37 Chromosome 12, 102158031: 102158031
48 GNPTAB NM_024312.4(GNPTAB): c.2693_2694insA (p.Tyr899Valfs) insertion Pathogenic rs281864999 GRCh37 Chromosome 12, 102158002: 102158002
49 GNPTAB NM_024312.4(GNPTAB): c.3002T> C (p.Leu1001Pro) single nucleotide variant Pathogenic rs281865006 GRCh37 Chromosome 12, 102155038: 102155038
50 GNPTAB NM_024312.4(GNPTAB): c.3061C> T (p.Gln1021Ter) single nucleotide variant Pathogenic rs281865008 GRCh37 Chromosome 12, 102154979: 102154979

Copy number variations for Mucolipidosis Ii Alpha/beta from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 61684 12 100663407 100748763 Microduplication or deletion GNPTAB Mucolipidosis types II

Expression for Mucolipidosis Ii Alpha/beta

Search GEO for disease gene expression data for Mucolipidosis Ii Alpha/beta.

Pathways for Mucolipidosis Ii Alpha/beta

Pathways related to Mucolipidosis Ii Alpha/beta according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.76 ARSH GM2A NEU1 PSAP SMPD1
2 11.45 CTSB FUCA1 GM2A GNPTAB GNPTG GUSB
3 10.95 IGF2R M6PR
4 10.41 FUCA1 NEU1

GO Terms for Mucolipidosis Ii Alpha/beta

Cellular components related to Mucolipidosis Ii Alpha/beta according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.86 CTSB FUCA1 GM2A GNPTG GUSB NEU1
2 extracellular exosome GO:0070062 9.81 CTSB FUCA1 GM2A GNPTG GUSB IGF2R
3 intracellular membrane-bounded organelle GO:0043231 9.8 CTSB GNPTG GUSB NEU1 PSAP
4 lysosomal membrane GO:0005765 9.67 IGF2R M6PR NEU1 PSAP
5 azurophil granule lumen GO:0035578 9.5 FUCA1 GM2A GUSB
6 clathrin-coated vesicle membrane GO:0030665 9.43 IGF2R M6PR
7 lysosomal lumen GO:0043202 9.43 FUCA1 GM2A GUSB NEU1 PSAP SMPD1
8 lysosome GO:0005764 9.28 CTSB FUCA1 GM2A GUSB IGF2R M6PR

Biological processes related to Mucolipidosis Ii Alpha/beta according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.72 ARSH FUCA1 GUSB NEU1 SMPD1
2 carbohydrate metabolic process GO:0005975 9.67 FUCA1 GUSB NEU1
3 neutrophil degranulation GO:0043312 9.5 CTSB FUCA1 GM2A GUSB IGF2R NEU1
4 sphingolipid metabolic process GO:0006665 9.48 GM2A PSAP
5 glycosaminoglycan catabolic process GO:0006027 9.46 FUCA1 GUSB
6 carbohydrate phosphorylation GO:0046835 9.43 GNPTAB GNPTG
7 oligosaccharide catabolic process GO:0009313 9.4 GM2A NEU1
8 ganglioside catabolic process GO:0006689 9.37 GM2A NEU1
9 secretion of lysosomal enzymes GO:0033299 9.26 GNPTAB M6PR
10 N-glycan processing to lysosome GO:0016256 9.16 GNPTAB GNPTG
11 glycosphingolipid metabolic process GO:0006687 9.02 ARSH GM2A NEU1 PSAP SMPD1

Molecular functions related to Mucolipidosis Ii Alpha/beta according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.56 ADPRH ARSH CTSB FUCA1 GM2A GUSB
2 mannose binding GO:0005537 9.26 IGF2R M6PR
3 UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity GO:0003976 9.16 GNPTAB GNPTG
4 hydrolase activity, acting on glycosyl bonds GO:0016798 8.92 FUCA1 GUSB NEU1 SMPD1

Sources for Mucolipidosis Ii Alpha/beta

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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