MCID: MCL062
MIFTS: 63

Mucolipidosis Ii Alpha/beta

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

Aliases & Classifications for Mucolipidosis Ii Alpha/beta

MalaCards integrated aliases for Mucolipidosis Ii Alpha/beta:

Name: Mucolipidosis Ii Alpha/beta 57 24 25 13
I-Cell Disease 57 24 25 59 75 55
Inclusion Cell Disease 24 53 25 75
I Cell Disease 76 53 29 6
Mucolipidosis Type Ii 25 59 75
Mucolipidosis Ii 57 24 25
Icd 57 53 75
Ml Ii Alpha/beta 57 24
Mucolipidosis 2 53 73
Ml Ii 57 24
Mlii 25 75
Deficiency of N-Acetylglucosamine-1-Phosphotransferase 29
N-Acetylglucosamine 1-Phosphotransferase Deficiency 59
N-Acetylglucosamine 1phosphotransferase Deficiency 53
Mucolipidosis, Type Ii, Alpha/beta ) 40
Mucolipidosis Type Ii Alpha/beta 59
Mucolipidosis Ii; Ml Ii 57
Mucolipidosis, Type Ii 6
Type Ii Mucolipidosis 73
I-Cell Disease; Icd 57
Ml Disorder Type 2 53
Leroy Disease 53
Gnpta 53
Ml 2 53

Characteristics:

Orphanet epidemiological data:

59
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:

57
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:

32
mucolipidosis ii alpha/beta:
Mortality/Aging death in childhood
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mucolipidosis Ii Alpha/beta

NIH Rare Diseases : 53 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.

MalaCards based summary : Mucolipidosis Ii Alpha/beta, also known as i-cell disease, is related to inclusion-cell disease and mucolipidosis iii alpha/beta. An important gene associated with Mucolipidosis Ii Alpha/beta is GNPTAB (N-Acetylglucosamine-1-Phosphate Transferase Subunits Alpha And Beta), 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 failure to thrive and kyphosis

OMIM : 57 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 : 75 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 : 25 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 : 76 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 98)
# Related Disease Score Top Affiliating Genes
1 inclusion-cell disease 31.9 GNPTAB GNPTG IGF2R PSAP
2 mucolipidosis iii alpha/beta 31.0 FUCA1 GNPTAB GNPTG GUSB
3 pacman dysplasia 11.4
4 brugada syndrome 11.2
5 hypertrophic cardiomyopathy 11.2
6 catecholaminergic polymorphic ventricular tachycardia 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 articulation disorder 10.6 GNPTAB GNPTG
28 speech disorder 10.5 GNPTAB GNPTG
29 mucolipidosis iv 10.4 GM2A PSAP
30 mucopolysaccharidoses 10.3 ARSH GUSB
31 niemann-pick disease, type c1 10.2 PSAP SMPD1
32 stuttering 10.2 GNPTAB GNPTG
33 mucopolysaccharidosis type vi 10.2 ARSH GUSB
34 gangliosidosis gm1 10.1 NEU1 PSAP
35 glycoproteinosis 10.1 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 cardiac conduction defect 9.9
43 left ventricular noncompaction 9.9
44 heart disease 9.9
45 tay-sachs disease 9.8 GM2A NEU1 PSAP
46 arteries, anomalies of 9.8
47 cardiac arrhythmia 9.8
48 tetralogy of fallot 9.8
49 coronary artery anomaly 9.8
50 arrhythmogenic right ventricular cardiomyopathy 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:

57
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

AbdomenSpleen:
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 Ribs Sternum 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:

59 32 (show top 50) (show all 77)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
2 kyphosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002808
3 coarse facial features 59 32 hallmark (90%) Very frequent (99-80%) HP:0000280
4 splenomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001744
5 recurrent respiratory infections 59 32 occasional (7.5%) Occasional (29-5%) HP:0002205
6 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
7 depressed nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0005280
8 anteverted nares 59 32 frequent (33%) Frequent (79-30%) HP:0000463
9 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
10 mucopolysacchariduria 59 32 hallmark (90%) Very frequent (99-80%) HP:0008155
11 long philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000343
12 weight loss 59 32 occasional (7.5%) Occasional (29-5%) HP:0001824
13 opacification of the corneal stroma 59 32 occasional (7.5%) Occasional (29-5%) HP:0007759
14 hernia 59 32 hallmark (90%) Very frequent (99-80%) HP:0100790
15 broad alveolar ridges 59 32 occasional (7.5%) Occasional (29-5%) HP:0000187
16 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
17 megalocornea 59 32 occasional (7.5%) Occasional (29-5%) HP:0000485
18 abnormality of the thorax 59 32 hallmark (90%) Very frequent (99-80%) HP:0000765
19 thin skin 59 32 frequent (33%) Frequent (79-30%) HP:0000963
20 cavernous hemangioma 59 32 occasional (7.5%) Occasional (29-5%) HP:0001048
21 corneal dystrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001131
22 carpal bone hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001498
23 congestive heart failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001635
24 generalized hirsutism 59 32 hallmark (90%) Very frequent (99-80%) HP:0002230
25 short long bone 59 32 hallmark (90%) Very frequent (99-80%) HP:0003026
26 progressive alveolar ridge hypertropy 59 32 occasional (7.5%) Occasional (29-5%) HP:0009092
27 severe global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0011344
28 abnormality of nervous system morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0012639
29 lack of skin elasticity 59 32 frequent (33%) Frequent (79-30%) HP:0100679
30 corneal erosion 59 32 hallmark (90%) Very frequent (99-80%) HP:0200020
31 osteopenia 32 HP:0000938
32 inguinal hernia 32 HP:0000023
33 macroglossia 32 HP:0000158
34 global developmental delay 32 HP:0001263
35 umbilical hernia 32 HP:0001537
36 thickened calvaria 32 HP:0002684
37 neonatal hypotonia 32 HP:0001319
38 cardiomegaly 32 HP:0001640
39 hypertrophic cardiomyopathy 32 HP:0001639
40 abnormality of the heart valves 59 Occasional (29-5%)
41 ovoid vertebral bodies 32 HP:0003300
42 pathologic fracture 32 HP:0002756
43 wide intermamillary distance 32 HP:0006610
44 recurrent otitis media 32 HP:0000403
45 palpebral edema 32 HP:0100540
46 hip dislocation 32 HP:0002827
47 talipes equinovarus 32 HP:0001762
48 recurrent pneumonia 32 HP:0006532
49 split hand 32 HP:0001171
50 high forehead 32 HP:0000348

MGI Mouse Phenotypes related to Mucolipidosis Ii Alpha/beta:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.97 CTSB GM2A GNPTAB GUSB IGF2R M6PR
2 cellular MP:0005384 9.86 M6PR NEU1 PSAP SMPD1 CTSB GNPTAB
3 growth/size/body region MP:0005378 9.76 CTSB GNPTAB GUSB IGF2R M6PR NEU1
4 homeostasis/metabolism MP:0005376 9.61 CTSB GNPTAB GNPTG GUSB IGF2R M6PR
5 renal/urinary system MP:0005367 9.17 GNPTAB GUSB IGF2R M6PR NEU1 PSAP

Drugs & Therapeutics for Mucolipidosis Ii Alpha/beta

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

(show all 44)
# 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 4053 460612
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 Antineoplastic Agents, Alkylating Phase 2,Not Applicable
25 Antirheumatic Agents Phase 2,Not Applicable
26 Immunosuppressive Agents Phase 2,Not Applicable
27 Methylprednisolone acetate Phase 2
28 Methylprednisolone Hemisuccinate Phase 2
29 Prednisolone acetate Phase 2
30 Prednisolone hemisuccinate Phase 2
31 Prednisolone phosphate Phase 2
32 Antifungal Agents Phase 2,Not Applicable
33 Antimetabolites Phase 2,Not Applicable
34 Antimetabolites, Antineoplastic Phase 2,Not Applicable
35 Calcineurin Inhibitors Phase 2,Not Applicable
36 Cyclosporins Phase 2,Not Applicable
37 Dermatologic Agents Phase 2,Not Applicable
38 Nucleic Acid Synthesis Inhibitors Phase 2
39
Mycophenolate mofetil Approved, Investigational Not Applicable 128794-94-5 5281078
40
Mycophenolic acid Approved Not Applicable 24280-93-1 446541
41 Anti-Bacterial Agents Not Applicable
42 Antibiotics, Antitubercular Not Applicable
43 Antitubercular Agents Not Applicable
44 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
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 29 GNPTAB
2 Deficiency of N-Acetylglucosamine-1-Phosphotransferase 29

Anatomical Context for Mucolipidosis Ii Alpha/beta

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

41
Heart, Skin, Bone, Testes, B Lymphoblasts, Brain, Small Intestine

Publications for Mucolipidosis Ii Alpha/beta

Articles related to Mucolipidosis Ii Alpha/beta:

(show top 50) (show all 96)
# Title Authors Year
1
I Cell Disease (Mucolipidosis II Alpha/Beta): From Screening to Molecular Diagnosis. ( 27785713 )
2017
2
Progression of Polysomnographic Abnormalities in Mucolipidosis II (I-Cell Disease). ( 27707435 )
2016
3
Clinical and laboratory outcomes after umbilical cord blood transplantation in a patient with mucolipidosis II alpha/beta. ( 26789537 )
2016
4
Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report. ( 25606425 )
2014
5
Two homozygous nonsense mutations of GNPTAB gene in two Chinese families with mucolipidosis II alpha/beta using targeted next-generation sequencing. ( 23773965 )
2013
6
Mucolipidosis type II (I-cell disease) masquerading as rickets: two case reports and review of literature. ( 22570975 )
2012
7
Anesthesia for gingivectomy and dental extractions in a child with I-cell disease--a case report. ( 21991745 )
2011
8
Blueberry muffin rash and thrombocytopenia in a newborn with mucolipidosis type II (I-cell disease) masquerading as congenital infections. ( 21959079 )
2011
9
Prenatal transient alveolomaxillary defect in a case of mucolipidosis II (I-cell disease). ( 20205156 )
2010
10
Difficult intubation management in a child with I-cell disease. ( 20927271 )
2010
11
Cytochemical analysis of storage materials in cultured skin fibroblasts from patients with I-cell disease. ( 17204262 )
2007
12
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
13
Mucolipidosis II (I - cell disease). ( 16333203 )
2005
14
Rickets-like radiological and biochemical features of neonatal mucolipidosis II (I-cell disease): report of two cases. ( 16363350 )
2005
15
Prenatal mucolipidosis type II (I-cell disease) can present as Pacman dysplasia. ( 15887289 )
2005
16
Surgical treatment of marked mitral valvar deformity combined with I-cell disease 'Mucolipidosis II'. ( 16164792 )
2005
17
Mannose 6-phosphorylated proteins are required for tumor necrosis factor-induced apoptosis: defective response in I-cell disease fibroblasts. ( 15452110 )
2004
18
Inheritance, biochemical abnormalities, and clinical features of feline mucolipidosis II: the first animal model of human I-cell disease. ( 14557388 )
2003
19
Defective proximal tubular function in a patient with I-cell disease. ( 12811655 )
2003
20
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
21
A case of I-cell disease (mucolipidosis II) presenting with craniosynostosis. ( 12483356 )
2002
22
Mucolipidosis II (I-cell disease) presenting as neonatal cholestasis. ( 11757590 )
2001
23
I-cell disease (Mucolipidosis II). ( 11028124 )
2000
24
I-cell disease presenting with severe hypophosphatemia and cardiomyopathy. ( 10774999 )
2000
25
Glycosylasparaginase as a marker enzyme in the detection of I-cell disease. ( 9882166 )
1998
26
I-cell disease-like phenotype in mice deficient in mannose 6-phosphate receptors. ( 10341453 )
1998
27
Palmitoyl-protein thioesterase deficiency in fibroblasts of individuals with infantile neuronal ceroid lipofuscinosis and I-cell disease. ( 9247083 )
1997
28
Neonatal mucolipidosis II (I-cell disease) with dysharmonic epiphyseal ossification and butterfly vertebral body. ( 8915942 )
1996
29
Spontaneous mucolipidosis in a cat: an animal model of human I-cell disease. ( 8826001 )
1996
30
The biogenesis of the MHC class II compartment in human I-cell disease B lymphoblasts. ( 8603911 )
1996
31
Inter- and intrafamilial variability in mucolipidosis II (I-cell disease). ( 7628121 )
1995
32
Mannose 6-phosphate-independent targeting of lysosomal enzymes in I-cell disease B lymphoblasts. ( 8408210 )
1993
33
Phosphorylation and subcellular location of alpha-L-fucosidase in lymphoid cells from patients with I-cell disease and pseudo-Hurler polydystrophy. ( 8286862 )
1993
34
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
35
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
36
Biosynthesis, processing, and secretion of alpha-L-fucosidase in lymphoid cells from patients with I-cell disease and pseudo-Hurler polydystrophy. ( 1822239 )
1991
37
Cation-independent mannose 6-phosphate receptors are concentrated in trans Golgi elements in normal human and I-cell disease fibroblasts. ( 2161763 )
1990
38
Impaired cholesterol esterification in cultured skin fibroblasts from patients with I-cell disease and pseudo-Hurler polydystrophy. ( 2751679 )
1989
39
Study of the bone pathology in early mucolipidosis II (I-cell disease). ( 2744018 )
1989
40
Improvement of tear lysosomal enzyme levels after treatment with bone marrow transplantation in a patient with I-cell disease. ( 2674824 )
1989
41
Genetic mucopolysaccharidoses, mannosidosis, sialidosis, galactosialidosis, and I-cell disease. Ultrastructural analysis of cultured fibroblasts. ( 3113172 )
1987
42
[Mucolipidosis type II (I-cell disease) with unusually severe heart involvement]. ( 3683411 )
1987
43
Ultrastructural studies of the skin and cultured fibroblasts in I-cell disease. ( 3316329 )
1987
44
Multiple transfer of lysosomal enzymes from normal lymphocytes to I-cell disease fibroblasts. ( 3829132 )
1987
45
Craniosynostosis and hydrocephalus in I-cell disease (mucolipidosis II). ( 3594472 )
1987
46
Altered molecular size of N-acetylglucosamine 1-phosphotransferase in I-cell disease and pseudo-Hurler polydystrophy. ( 2829837 )
1987
47
Characterization of the mutant N-acetylglucosaminylphosphotransferase in I-cell disease and pseudo-Hurler polydystrophy: complementation analysis and kinetic studies. ( 3017692 )
1986
48
Fetal mucolipidosis II (I-cell disease): radiologic and pathologic correlation. ( 3080723 )
1986
49
Radiological features of neonatal mucolipidosis II (I-cell disease): a case report. ( 4081110 )
1985
50
I-cell disease and pseudo-Hurler polydystrophy: heterozygote detection and characteristics of the altered N-acetyl-glucosamine-phosphotransferase in genetic variants. ( 2998644 )
1985

Variations for Mucolipidosis Ii Alpha/beta

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

75
# 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 372)
# Gene Variation Type Significance SNP ID Assembly Location
1 GNPTAB NM_024312.4(GNPTAB): c.1625_1626insC (p.Glu542Aspfs) insertion Pathogenic rs281865027 GRCh37 Chromosome 12, 102159069: 102159070
2 GNPTAB NM_024312.4(GNPTAB): c.310C> T (p.Gln104Ter) single nucleotide variant Pathogenic rs137852896 GRCh37 Chromosome 12, 102183729: 102183729
3 GNPTAB NM_024312.4(GNPTAB): c.310C> T (p.Gln104Ter) single nucleotide variant Pathogenic rs137852896 GRCh38 Chromosome 12, 101789951: 101789951
4 GNPTAB NM_024312.4(GNPTAB): c.3565C> T (p.Arg1189Ter) single nucleotide variant Pathogenic rs137852897 GRCh37 Chromosome 12, 102147187: 102147187
5 GNPTAB NM_024312.4(GNPTAB): c.3565C> T (p.Arg1189Ter) single nucleotide variant Pathogenic rs137852897 GRCh38 Chromosome 12, 101753409: 101753409
6 GNPTAB NM_024312.4(GNPTAB): c.3173C> G (p.Ser1058Ter) single nucleotide variant Pathogenic rs137852898 GRCh37 Chromosome 12, 102153884: 102153884
7 GNPTAB NM_024312.4(GNPTAB): c.3173C> G (p.Ser1058Ter) single nucleotide variant Pathogenic rs137852898 GRCh38 Chromosome 12, 101760106: 101760106
8 GNPTAB NM_024312.4(GNPTAB): c.3474_3475delTA (p.His1158Glnfs) deletion Pathogenic rs281865038 GRCh37 Chromosome 12, 102147277: 102147278
9 GNPTAB NM_024312.4(GNPTAB): c.3474_3475delTA (p.His1158Glnfs) deletion Pathogenic rs281865038 GRCh38 Chromosome 12, 101753499: 101753500
10 GNPTAB NM_024312.4(GNPTAB): c.2681G> A (p.Trp894Ter) single nucleotide variant Pathogenic rs137852899 GRCh37 Chromosome 12, 102158014: 102158014
11 GNPTAB NM_024312.4(GNPTAB): c.2681G> A (p.Trp894Ter) single nucleotide variant Pathogenic rs137852899 GRCh38 Chromosome 12, 101764236: 101764236
12 GNPTAB NM_024312.4(GNPTAB): c.1625_1626insC (p.Glu542Aspfs) insertion Pathogenic rs281865027 GRCh38 Chromosome 12, 101765291: 101765292
13 GNPTAB NM_024312.4(GNPTAB): c.3503_3504delTC (p.Leu1168Glnfs) deletion Pathogenic rs34002892 GRCh37 Chromosome 12, 102147248: 102147249
14 GNPTAB NM_024312.4(GNPTAB): c.3503_3504delTC (p.Leu1168Glnfs) deletion Pathogenic rs34002892 GRCh38 Chromosome 12, 101753470: 101753471
15 GNPTAB NM_024312.4(GNPTAB): c.3335+1G> A single nucleotide variant Pathogenic rs34940801 GRCh37 Chromosome 12, 102151349: 102151349
16 GNPTAB NM_024312.4(GNPTAB): c.3335+1G> A single nucleotide variant Pathogenic rs34940801 GRCh38 Chromosome 12, 101757571: 101757571
17 GNPTAB NM_024312.4(GNPTAB): c.3335+6T> G single nucleotide variant Pathogenic rs34788341 GRCh37 Chromosome 12, 102151344: 102151344
18 GNPTAB NM_024312.4(GNPTAB): c.3335+6T> G single nucleotide variant Pathogenic rs34788341 GRCh38 Chromosome 12, 101757566: 101757566
19 GNPTAB NM_024312.4(GNPTAB): c.1120T> C (p.Phe374Leu) single nucleotide variant Pathogenic rs137852900 GRCh37 Chromosome 12, 102163963: 102163963
20 GNPTAB NM_024312.4(GNPTAB): c.1120T> C (p.Phe374Leu) single nucleotide variant Pathogenic rs137852900 GRCh38 Chromosome 12, 101770185: 101770185
21 GNPTAB NM_024312.4(GNPTAB): c.1738_1741[3] (p.Ser581Ilefs) short repeat Pathogenic rs397507443 GRCh38 Chromosome 12, 101765176: 101765179
22 GNPTAB NM_024312.4(GNPTAB): c.3434+1G> A single nucleotide variant Pathogenic rs281865036 GRCh38 Chromosome 12, 101757211: 101757211
23 GNPTAB NM_024312.4(GNPTAB): c.118-2A> G single nucleotide variant Pathogenic rs281865023 GRCh37 Chromosome 12, 102190542: 102190542
24 GNPTAB NM_024312.4(GNPTAB): c.118-2A> G single nucleotide variant Pathogenic rs281865023 GRCh38 Chromosome 12, 101796764: 101796764
25 GNPTAB NM_024312.4(GNPTAB): c.1580delC (p.Cys528Valfs) deletion Pathogenic rs36007394 GRCh37 Chromosome 12, 102159901: 102159901
26 GNPTAB NM_024312.4(GNPTAB): c.1580delC (p.Cys528Valfs) deletion Pathogenic rs36007394 GRCh38 Chromosome 12, 101766123: 101766123
27 GNPTAB NM_024312.4(GNPTAB): c.1738_1741[3] (p.Ser581Ilefs) short repeat Pathogenic rs397507443 GRCh37 Chromosome 12, 102158954: 102158957
28 GNPTAB NM_024312.4(GNPTAB): c.2188delTinsAAA (p.Leu730Lysfs) indel Pathogenic rs34161232 GRCh37 Chromosome 12, 102158507: 102158507
29 GNPTAB NM_024312.4(GNPTAB): c.2188delTinsAAA (p.Leu730Lysfs) indel Pathogenic rs34161232 GRCh38 Chromosome 12, 101764729: 101764729
30 GNPTAB NM_024312.4(GNPTAB): c.2533C> T (p.Gln845Ter) single nucleotide variant Pathogenic rs281865028 GRCh37 Chromosome 12, 102158162: 102158162
31 GNPTAB NM_024312.4(GNPTAB): c.2533C> T (p.Gln845Ter) single nucleotide variant Pathogenic rs281865028 GRCh38 Chromosome 12, 101764384: 101764384
32 GNPTAB NM_024312.4(GNPTAB): c.2659dupA (p.Ser887Lysfs) duplication Pathogenic rs281865030 GRCh37 Chromosome 12, 102158036: 102158036
33 GNPTAB NM_024312.4(GNPTAB): c.2659dupA (p.Ser887Lysfs) duplication Pathogenic rs281865030 GRCh38 Chromosome 12, 101764258: 101764258
34 GNPTAB NM_024312.4(GNPTAB): c.2916_2917insT (p.Glu975Terfs) insertion Pathogenic rs281865032 GRCh37 Chromosome 12, 102155123: 102155123
35 GNPTAB NM_024312.4(GNPTAB): c.2916_2917insT (p.Glu975Terfs) insertion Pathogenic rs281865032 GRCh38 Chromosome 12, 101761345: 101761345
36 GNPTAB NM_024312.4(GNPTAB): c.3145_3146insC (p.Gly1049Alafs) insertion Pathogenic rs281865033 GRCh37 Chromosome 12, 102153911: 102153912
37 GNPTAB NM_024312.4(GNPTAB): c.3145_3146insC (p.Gly1049Alafs) insertion Pathogenic rs281865033 GRCh38 Chromosome 12, 101760133: 101760134
38 GNPTAB NM_024312.4(GNPTAB): c.3231_3234dupCTAC (p.Tyr1079Leufs) duplication Pathogenic rs34256381 GRCh37 Chromosome 12, 102153823: 102153826
39 GNPTAB NM_024312.4(GNPTAB): c.3231_3234dupCTAC (p.Tyr1079Leufs) duplication Pathogenic rs34256381 GRCh38 Chromosome 12, 101760045: 101760048
40 GNPTAB NM_024312.4(GNPTAB): c.3249+1G> A single nucleotide variant Pathogenic rs281865012 GRCh37 Chromosome 12, 102153807: 102153807
41 GNPTAB NM_024312.4(GNPTAB): c.3249+1G> A single nucleotide variant Pathogenic rs281865012 GRCh38 Chromosome 12, 101760029: 101760029
42 GNPTAB NM_024312.4(GNPTAB): c.3252delA (p.Pro1085Argfs) deletion Pathogenic rs281865035 GRCh37 Chromosome 12, 102151433: 102151433
43 GNPTAB NM_024312.4(GNPTAB): c.3252delA (p.Pro1085Argfs) deletion Pathogenic rs281865035 GRCh38 Chromosome 12, 101757655: 101757655
44 GNPTAB NM_024312.4(GNPTAB): c.3434+1G> A single nucleotide variant Pathogenic rs281865036 GRCh37 Chromosome 12, 102150989: 102150989
45 GNPTAB NM_024312.4(GNPTAB): c.3566_3567insA (p.Asn1190Lysfs) insertion Pathogenic rs281865039 GRCh37 Chromosome 12, 102147185: 102147185
46 GNPTAB NM_024312.4(GNPTAB): c.3566_3567insA (p.Asn1190Lysfs) insertion Pathogenic rs281865039 GRCh38 Chromosome 12, 101753407: 101753407
47 GNPTAB NM_024312.4(GNPTAB): c.3613C> T (p.Arg1205Ter) single nucleotide variant Pathogenic rs35333334 GRCh37 Chromosome 12, 102142959: 102142959
48 GNPTAB NM_024312.4(GNPTAB): c.3613C> T (p.Arg1205Ter) single nucleotide variant Pathogenic rs35333334 GRCh38 Chromosome 12, 101749181: 101749181
49 GNPTAB NM_024312.4(GNPTAB): c.555_556ins296 (p.?) insertion Pathogenic GRCh37 Chromosome 12, 102179805: 102179806
50 GNPTAB NM_024312.4(GNPTAB): c.555_556ins296 (p.?) insertion Pathogenic GRCh38 Chromosome 12, 101786027: 101786028

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 enzyme activator activity GO:0008047 9.32 GM2A PSAP
3 mannose binding GO:0005537 9.26 IGF2R M6PR
4 UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity GO:0003976 9.16 GNPTAB GNPTG
5 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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