MLII
MCID: MCL062
MIFTS: 68

Mucolipidosis Ii Alpha/beta (MLII)

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Mucolipidosis Ii Alpha/beta

MalaCards integrated aliases for Mucolipidosis Ii Alpha/beta:

Name: Mucolipidosis Ii Alpha/beta 56 12 25 13
I-Cell Disease 56 12 25 58 73 54
Mucolipidosis Type Ii 25 58 73 29 6
Mucolipidosis Ii 56 12 25 36
Inclusion-Cell Disease 12 74 15
Inclusion Cell Disease 52 25 73
Icd 56 52 73
Mucolipidosis 2 52 71
I Cell Disease 74 52
Mlii 25 73
Deficiency of N-Acetylglucosamine-1-Phosphotransferase 29
N-Acetylglucosamine 1-Phosphotransferase Deficiency 58
N-Acetylglucosamine 1phosphotransferase Deficiency 52
Mucolipidosis, Type Ii, Alpha/beta 39
Mucolipidosis Type Ii Alpha/beta 58
Mucolipidosis Ii; Ml Ii 56
Type Ii Mucolipidosis 71
I-Cell Disease; Icd 56
Ml Disorder Type 2 52
Ml Ii Alpha/beta 56
Leroy Disease 52
Ml Ii 56
Gnpta 52
Ml 2 52
Ml2 17

Characteristics:

Orphanet epidemiological data:

58
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:

56
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

Inheritance:
autosomal recessive


HPO:

31
mucolipidosis ii alpha/beta:
Inheritance autosomal recessive inheritance
Clinical modifier death in childhood


Classifications:

Orphanet: 58  
Rare bone diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for Mucolipidosis Ii Alpha/beta

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. At birth, children with mucolipidosis II alpha/beta are small and have weak muscle tone (hypotonia) and a weak cry. Affected individuals grow slowly after birth and usually stop growing during the second year of life. Development is delayed, particularly the development of speech and motor skills such as sitting and standing. Children with mucolipidosis II alpha/beta typically have several bone abnormalities, many of which are present at birth. Affected individuals may have an abnormally rounded upper back (kyphosis), feet that are abnormally rotated (clubfeet), dislocated hips, unusually shaped long bones, and short hands and fingers. People with this condition also have joint deformities (contractures) that significantly affect mobility. Most children with mucolipidosis II alpha/beta do not develop the ability to walk independently. Affected individuals have dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x-ray. Other features of mucolipidosis II alpha/beta include a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen (inguinal hernia), heart valve abnormalities, distinctive-looking facial features that are described as "coarse," and overgrowth of the gums (gingival hypertrophy). Vocal cords can stiffen, resulting in a hoarse voice. The airway is narrow, which can contribute to prolonged or recurrent respiratory infections. Affected individuals may also have recurrent ear infections, which can lead to hearing loss.

MalaCards based summary : Mucolipidosis Ii Alpha/beta, also known as i-cell disease, is related to mucopolysaccharidoses and lysosomal storage disease. 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 Lysosome and Sphingolipid metabolism. The drugs Chlorhexidine and Povidone have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and skin, and related phenotypes are coarse facial features and gingival overgrowth

Disease Ontology : 12 A mucolipidosis that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay, caused by a defect in proper lysosomal enzyme phosphorylation and localization, which results in accumulation of lysosomal substrates, and that has material basis in homozygous or compound heterozygous mutation in the GNPTAB gene.

NIH Rare Diseases : 52 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.

OMIM : 56 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)

KEGG : 36 Mucolipidosis type II, also known as I-cell disease, autosomal recessive lysosomal storage disorders caused by the deficiency of N-acetylglucosamine-1-phosphate transferase which is multimeric enzyme involved in phosphotransfer of UDP-N-acetylglucosamine to lysosomal enzymes (glycoproteins). It is the necessary process for the transport of newly synthesized lysosomal proteins to the lysosomes.

UniProtKB/Swiss-Prot : 73 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.

Wikipedia : 74 Inclusion-cell (I-cell) disease, also referred to as mucolipidosis II (ML II), is part of the lysosomal... more...

Related Diseases for Mucolipidosis Ii Alpha/beta

Diseases in the Mucolipidosis family:

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

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

(show top 50) (show all 403)
# Related Disease Score Top Affiliating Genes
1 mucopolysaccharidoses 30.9 GUSB ARSH
2 lysosomal storage disease 30.6 SMPD1 PSAP M6PR IGF2R GUSB GM2A
3 gangliosidosis 30.5 PSAP GM2A
4 glycoproteinosis 30.2 SLC17A5 PSAP ARSH
5 niemann-pick disease, type c2 30.1 SMPD1 PSAP
6 hurler syndrome 30.1 IGF2R GNPTG GNPTAB FUCA1 ARSH
7 stuttering 29.6 NAGPA GNPTG GNPTAB ADPRH
8 niemann-pick disease 29.6 SMPD1 PSAP M6PR IGF2R
9 galactosialidosis 29.5 SLC17A5 PSAP M6PR ARSH
10 fucosidosis 29.2 SLC17A5 FUCA1 ARSH
11 scheie syndrome 29.0 IGF2R GUSB FUCA1 BSG ARSH
12 gm1 gangliosidosis 28.9 SLC17A5 PSAP OGA GM2A ARSH
13 tay-sachs disease 28.7 SMPD1 PSAP OGA IGF2R GM2A ARSH
14 mucolipidosis iii alpha/beta 28.2 NAGPA MBTPS1 M6PR IGF2R GUSB GNPTG
15 neuronal ceroid lipofuscinosis 27.9 SORT1 SMPD1 PSAP M6PR IGF2R CTSD
16 mucolipidosis 27.4 SMPD1 SLC17A5 PSAP NAGPA MBTPS1 M6PR
17 mucopolysaccharidosis-plus syndrome 27.0 SMPD1 SLC17A5 OGA M6PR IGF2R GUSB
18 mucolipidosis iii gamma 11.7
19 mucolipidoses 11.7
20 cardiac arrest 11.6
21 brugada syndrome 11.5
22 catecholaminergic polymorphic ventricular tachycardia 11.5
23 short qt syndrome 11.5
24 personality disorder 11.5
25 impulse control disorder 11.5
26 reactive arthritis 11.3
27 carcinoid tumors, intestinal 11.2
28 meningioma, radiation-induced 11.2
29 meningioma, familial 11.2
30 spinal meningioma 11.2
31 carcinoid syndrome 11.2
32 cardiomyopathy, familial hypertrophic, 1 11.2
33 myofibrillar myopathy 11.2
34 hypertensive heart disease 11.2
35 allergic contact dermatitis 11.2
36 mood disorder 11.2
37 cardiac conduction defect 10.9
38 ventricular fibrillation, paroxysmal familial, 1 10.9
39 dilated cardiomyopathy 10.6
40 syncope 10.6
41 heart disease 10.5
42 hyperparathyroidism 10.4
43 arrhythmogenic right ventricular cardiomyopathy 10.4
44 long qt syndrome 10.4
45 rickets 10.4
46 pneumothorax 10.4
47 progressive familial heart block, type ia 10.3
48 hyperlipoproteinemia, type iii 10.3
49 lipoprotein quantitative trait locus 10.3
50 gnptab-related disorders 10.3

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

Human phenotypes related to Mucolipidosis Ii Alpha/beta:

58 31 (show top 50) (show all 114)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%) HP:0000280
2 gingival overgrowth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000212
3 umbilical hernia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001537
4 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
5 thickened skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0001072
6 postnatal growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0008897
7 motor delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001270
8 hoarse voice 58 31 hallmark (90%) Very frequent (99-80%) HP:0001609
9 protuberant abdomen 58 31 hallmark (90%) Very frequent (99-80%) HP:0001538
10 expressive language delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0002474
11 restricted chest movement 58 31 hallmark (90%) Very frequent (99-80%) HP:0006596
12 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
13 cognitive impairment 58 31 frequent (33%) Frequent (79-30%) HP:0100543
14 flat face 58 31 frequent (33%) Frequent (79-30%) HP:0012368
15 mitral regurgitation 58 31 frequent (33%) Frequent (79-30%) HP:0001653
16 conductive hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000405
17 otitis media 58 31 frequent (33%) Frequent (79-30%) HP:0000388
18 abnormal mitral valve morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001633
19 narrow chest 58 31 frequent (33%) Frequent (79-30%) HP:0000774
20 craniosynostosis 58 31 frequent (33%) Frequent (79-30%) HP:0001363
21 obstructive sleep apnea 58 31 frequent (33%) Frequent (79-30%) HP:0002870
22 inability to walk 58 31 frequent (33%) Frequent (79-30%) HP:0002540
23 poor speech 58 31 frequent (33%) Frequent (79-30%) HP:0002465
24 pulmonary insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0010444
25 abnormality of the thoracic cavity 58 31 frequent (33%) Frequent (79-30%) HP:0045027
26 restrictive ventilatory defect 31 frequent (33%) HP:0002091
27 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
28 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
29 recurrent respiratory infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0002205
30 weight loss 58 31 occasional (7.5%) Occasional (29-5%) HP:0001824
31 abnormal aortic valve morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001646
32 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
33 talipes equinovarus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001762
34 left ventricular hypertrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001712
35 fine hair 58 31 occasional (7.5%) Occasional (29-5%) HP:0002213
36 hip dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002827
37 hip contracture 58 31 occasional (7.5%) Occasional (29-5%) HP:0003273
38 white hair 58 31 occasional (7.5%) Occasional (29-5%) HP:0011364
39 diastasis recti 58 31 occasional (7.5%) Occasional (29-5%) HP:0001540
40 prominent metopic ridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0005487
41 oligohydramnios 58 31 occasional (7.5%) Occasional (29-5%) HP:0001562
42 cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001638
43 knee flexion contracture 58 31 occasional (7.5%) Occasional (29-5%) HP:0006380
44 stridor 58 31 occasional (7.5%) Occasional (29-5%) HP:0010307
45 abnormality of long bone morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0011314
46 aortic regurgitation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001659
47 hepatosplenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001433
48 limited wrist movement 58 31 occasional (7.5%) Occasional (29-5%) HP:0006248
49 muscular hypotonia of the trunk 58 31 occasional (7.5%) Occasional (29-5%) HP:0008936
50 dry hair 58 31 occasional (7.5%) Occasional (29-5%) HP:0011359

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Mouth:
macroglossia
progressive alveolar ridge hypertrophy

Abdomen Liver:
hepatomegaly

Abdomen External Features:
umbilical hernia
diastasis recti
abdominal protuberance

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

Skeletal Feet:
talipes equinovarus

Voice:
hoarse voice

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

Laboratory Abnormalities:
deficiency of n-acetylglucosamine-1-phosphotransferase
normal to mildly increased mucopolysacchariduria
increased serum beta-hexosaminidase (10-20x)
increased serum iduronate sulfatase (10-20x)
increased serum arylsulfatase a (10-20x)
more
Head And Neck Nose:
anteverted nostrils
low nasal bridge

Skeletal:
pathologic fractures
moderate joint limitation
osteopenia in early infancy

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

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

Genitourinary External Genitalia Male:
inguinal hernia

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

Skeletal Spine:
ovoid vertebral bodies
atlantoaxial dislocation
beaking of vertebral bodies t12-l3
hypoplastic odontoid process
dorsolumbar kyphosis
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

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

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

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

Clinical features from OMIM:

252500

MGI Mouse Phenotypes related to Mucolipidosis Ii Alpha/beta:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.24 BSG CTSB CTSD FUCA1 GNPTAB GUSB
2 behavior/neurological MP:0005386 10.14 CTSB CTSD FUCA1 GM2A GNPTAB GUSB
3 growth/size/body region MP:0005378 10.13 BSG CTSB CTSD FUCA1 GNPTAB GUSB
4 homeostasis/metabolism MP:0005376 10.1 BSG CTSB CTSD FUCA1 GNPTAB GNPTG
5 mortality/aging MP:0010768 9.97 BSG CTSB CTSD GNPTAB GUSB IGF2R
6 nervous system MP:0003631 9.7 BSG CTSB CTSD FUCA1 GM2A GNPTAB
7 renal/urinary system MP:0005367 9.23 BSG CTSB FUCA1 GNPTAB GUSB IGF2R

Drugs & Therapeutics for Mucolipidosis Ii Alpha/beta

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

(show top 50) (show all 356)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Chlorhexidine Approved, Vet_approved Phase 4 55-56-1 9552079 2713
2
Povidone Approved Phase 4 9003-39-8
3
Povidone-iodine Approved Phase 4 25655-41-8
4
Levofloxacin Approved, Investigational Phase 4 100986-85-4 149096
5
Ofloxacin Approved Phase 4 82419-36-1 4583
6
Azithromycin Approved Phase 4 83905-01-5 447043 55185
7
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
8
Mepivacaine Approved, Vet_approved Phase 4 96-88-8 4062
9
Prilocaine Approved Phase 4 721-50-6 4906
10
Polidocanol Approved Phase 4 9002-92-0
11
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
12
Desflurane Approved Phase 4 57041-67-5 42113
13
Remifentanil Approved Phase 4 132875-61-7 60815
14
Thrombin Approved, Investigational Phase 4
15
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
16
Darunavir Approved Phase 4 206361-99-1, 635728-49-3 213039
17
Emtricitabine Approved, Investigational Phase 4 143491-57-0 60877
18
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
19
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
20
Dimenhydrinate Approved Phase 4 523-87-5 441281
21
Valganciclovir Approved, Investigational Phase 4 175865-60-8 64147
22
Foscarnet Approved Phase 4 4428-95-9, 63585-09-1 3415
23
Ganciclovir Approved, Investigational Phase 4 82410-32-0 3454
24
Levobupivacaine Approved, Investigational Phase 4 27262-47-1 92253
25
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
26
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
27
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
28
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
29
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
30
Tamsulosin Approved, Investigational Phase 4 106133-20-4 129211
31
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
32
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
33
Tenofovir Experimental, Investigational Phase 4 147127-20-6 464205
34
Phosphonoacetic Acid Experimental Phase 4 4408-78-0 546
35 Anti-Infective Agents, Local Phase 4
36 Chlorhexidine gluconate Phase 4
37 Plasma Substitutes Phase 4
38 Disinfectants Phase 4
39 Blood Substitutes Phase 4
40 Fluoroquinolones Phase 4
41 Vaccines Phase 4
42 Adrenergic beta-Agonists Phase 4
43 Adrenergic alpha-Agonists Phase 4
44 Vasoconstrictor Agents Phase 4
45 Sympathomimetics Phase 4
46 Adrenergic Agonists Phase 4
47 Antiviral Agents Phase 4
48 Anti-Retroviral Agents Phase 4
49 Pharmaceutical Solutions Phase 4
50 Rho(D) Immune Globulin Phase 4

Interventional clinical trials:

(show top 50) (show all 226)
# Name Status NCT ID Phase Drugs
1 Comparison of the Effect of Applying Povidone-iodine and Chlorhexidine Solutions for Perinea Washing on Bacteriuria Rate and Type in Patients With Urinary Catheter in Intensive Care Unit Unknown status NCT02032394 Phase 4 Povidone-iodine;Chlorhexidine;Normal saline
2 Diagnostic Immunization With Rabies Vaccine in Patients With Primary Immunodeficiency Disorders Unknown status NCT02490956 Phase 4
3 Evaluation of a Clinical Pathway Based on Procalcitonin Levels for the Management of Community-acquired Pneumonia in Outpatients Unknown status NCT02600806 Phase 4 Azithromycin;Levofloxacin
4 An Open-label Multicenter Study to Evaluate the Safety and Tolerability of Higher Infusion Parameters of Immune Globulin Subcutaneous (Human), 20% Liquid (Hizentra®) in Subjects With Primary Immunodeficiency Completed NCT03033745 Phase 4 IgPro20
5 Imatinib Mesylate Therapy in Systemic Mastocytosis Patients Lacking KIT Mutations Completed NCT01297777 Phase 4 Imatinib Mesylate
6 Interest of Parasternal Block to Limit the Doses of Anesthetics Necessary for the Maintenance of Arterial Blood Pressure and Heart Rate in the Recommended Values During Sternotomy in Patients Undergoing Coronary Artery Bypass Graft Completed NCT03734159 Phase 4 Ropivacaine;sodium chloride 0.9%
7 Spinale Unilaterale o Blocco Nervoso Periferico Per le Artroscopie di Ginocchio in Day Surgery. Confronto Prospettico Randomizzato Completed NCT02384915 Phase 4 prilocaine;mepivacaine
8 Placebo Controlled Trial, Testing the Efficacy of Polidocanol Injections as a Treatment of Chronic Achilles Tendinopathy. Completed NCT00377910 Phase 4 Aethoxysclerol
9 Is Painless ESWL Possible? Analgesic Efficacy of Ultrasound Guided Quadratus Lumborum Block During Extracorporeal Shockwave Lithotripsy Completed NCT03080363 Phase 4 Bupivacaine;Lidocaine
10 NeoFent-I Study; Fentanyl Treatment in Newborn Infants; a Pharmacokinetic, Pharmacodynamic and Pharmacogenetic Study. Prestudy to NeoOpioid; No Pain During Infancy by Adapting Off-patent Medicines. EU FP7:HEALTH - 2007-4.2-1 Completed NCT03897452 Phase 4 Fentanyl (5 microgram/ml) prediluted ampoules
11 Randomized, Double-Blinded, Placebo-Controlled Study to Evaluate the Effect of Fentanyl on the Incidence of Coughing and Recovery After Propofol-Desflurane Anesthesia With an LMA for Airway Management Completed NCT01368809 Phase 4 Saline;Fentanyl
12 Randomized Controlled Trial Comparing Residual Kidney Function in Patients Undergoing Three or Four Exchanges CAPD Completed NCT01637792 Phase 4
13 Remifentanil and Propofol Versus Fentanyl and Midazolam for Sedation During Therapeutic Hypothermia. A Randomised, Controlled Trial Completed NCT00667043 Phase 4 remifentanil and propofol;fentanyl and midazolam
14 Randomized Controlled Trail of Polyethylene Glycol vs Sodium Phosphate for Colonic Cleansing of Colonoscopy Completed NCT03817788 Phase 4 polyethylene glycol;sodium phosphate
15 Comparison of Bupivacaine Versus Bupivacaine-dexamethasone Infiltration for Postoperative Analgesia in Skin Graft Donor Sites, a Randomized Trial Completed NCT03967392 Phase 4 Xylocaine
16 Plasma Rich in Growth Factors Effectiveness for Myofascial Pain Treatment in Masticatory Muscles: a Randomized Controlled Clinical Trial Completed NCT04040309 Phase 4 Lidocaine injection
17 A Prospective, Randomized Study to Compare the Addition of Granules of Gelatine + Thrombin to Our Standard of Care (SOC) to Control Post Operative Bleeding in Total Knee Replacement Completed NCT01891461 Phase 4 Floseal
18 Phase 4 Study of Comparison of Preincisional Infiltrated Dexmedetomidine and Lidocaine Plus Adrenaline for Surgical Conditions and Postoperative Analgesic Consumption in Nasal Sephoplasty Surgery. Completed NCT01964586 Phase 4 Dexmedetomidine;Lidocaine;Adrenaline
19 A Phase 4, Randomized, Open Label, Controlled Study of Boosted Darunavir and Lamivudine Versus Boosted Darunavir and Emtricitabine/Tenofovir or Lamivudine/Tenofovir in Naïve HIV-1 Infected Subjects Completed NCT02770508 Phase 4 darunavir/ritonavir;Lamivudine;emtricitabine-tenofovir(FTC/TDF)
20 Postoperative Analgesic Efficacy of Local Infiltration Analgesia Versus Adductor Canal Block After Anterior Cruciate Ligament Reconstruction: A Randomised Controlled Double-blinded Trial Completed NCT02524652 Phase 4 Ropivacaine 0.5% 20 mLs
21 Can Dexmedetomidine For Procedural Sedation In Knee Arthroplasty Reduce Postoperative Pain? A Randomized Control Study Completed NCT02026141 Phase 4 Dexmedetomidine;Normal Saline Placebo
22 A Prospective Randomize Study: Prevention of Nausea and Vomiting in Plastic Surgery Completed NCT02382146 Phase 4 dexamethasone ondansetron;Dexamethasone dimenhidrinate
23 Phase 4, Prospective, Randomized, Double-blinded, Placebo-controlled Study Comparing Propofol vs. Midazolam Plus Propofol for Nonanesthesiologist Targeted Moderate Sedation in Outpatient Colonoscopy Completed NCT01428882 Phase 4 Midazolam;Propofol
24 Determining a Viral Load Threshold for Pre-emptive Therapy for Cytomegalovirus Infection in Transplant Patients Using Real Time Polymerase Chain Reaction (PCR) Monitoring Completed NCT00947141 Phase 4 ganciclovir (start when CMV PCR >200copies / ml x2);Stop treatment when 2 levels CMV PCR <3,000 copies / ml
25 Grass Pollen Subcutaneous Immunotherapy: a Double-blind, Placebo-controlled Study in Elderly Patients With an Allergy to Grass Pollen Completed NCT02440243 Phase 4 Purethal;Purethal -placebo
26 Comparing the Effects of Levobupivacaine and Bupivacaine in Anorectal Surgery Under Saddle Spinal Anesthesia Completed NCT04245774 Phase 4 Levobupivacaine (as Levobupivacaine Hydrochloride) 75 Mg/10 mL Solution for Injection Ampoule;Bupivacaine/Dextrose
27 Effects of Catheter Location on Postoperative Analgesia for Continuous Adductor Canal and Popliteal-Sciatic Nerve Blocks Completed NCT02523235 Phase 4 ropivacaine 0.2%
28 Target-controlled Infusion With Propofol in the Emergency Department : a Prospective Study on 45 Adult Patients Recruiting NCT03783494 Phase 4 Target control infusion with propofol
29 Differential Efficacy of Corticosteroid Solutions for Non-Operative Treatment of Digit Flexor Tenosynovitis: A Double-Blind Prospective Randomized Clinical Trial Recruiting NCT04002037 Phase 4 Triamcinolone Acetonide 40mg/mL;Triamcinolone Acetonide 10mg/mL;Dexamethasone 4 mg/ml
30 Ultrasound Guided Fascia Iliaca Nerve Block With Bupivacaine and Adjuvant Ketamine vs. Bupivacaine Alone in Patients With Hip or Femur Fracture: a Double Blind Randomized Clinical Trial (BupiKet) Not yet recruiting NCT03909594 Phase 4 Bupivacaine;Ketamine
31 Comparison of Plasma Concentration And Efficacy Of Liposomal Bupivacaine And Plain Bupivacaine After Intercostal Injections For Pain Management After Thoracoscopy Suspended NCT03737292 Phase 4 Exparel;Bupivacaine
32 The Use of Tamsulosin to Prevent Postoperative Urinary Retention in Laparoscopic Inguinal Hernia Repair: A Randomized Double-Blind Placebo-Controlled Study Terminated NCT04434378 Phase 4 Tamsulosin;Placebo
33 Do Cervical Interlaminar Epidural Steroid Injections With Low-dose Lidocaine Cause Transient Objective Upper Extremity Weakness? A Prospective Randomized Terminated NCT03382925 Phase 4 Lidocaine;Triamcinolone Acetonide;Normal saline
34 A Multicenter, Randomized, Double-Blind, Controlled Study of EXPAREL for Postsurgical Pain Management in Subjects Undergoing Open Lumbar Spinal Fusion Surgery Terminated NCT03015961 Phase 4 Bupivacaine HCl;EXPAREL and bupivacaine HCl
35 Proteomics and Stem Cell Therapy as a New Vascularization Strategy Withdrawn NCT02408991 Phase 4 Neupogen
36 Comparison Between Dexchlorpheniramine and Dexchlorpheniramine/Pseudoephedrine/Guaifenesin in the Relief of Allergic Symptoms in Rhinitic Patients With Viral Upper Respiratory Tract Infections and Productive Cough Unknown status NCT01085721 Phase 3 Dexchlorpheniramine, pseudoephedrine, guaifenesin;Dexchlorpheniramine
37 Randomized, Parallel and Double Blind Placebo-controlled Study for the Evaluation of Both Acute and Chronic Role of Hesperidin Consumption in 100% Orange Juice Unknown status NCT02479568 Phase 3
38 Longitudinal Clinical, Controlled, Randomized, Open-label, Phase III Study to Assess the Equivalence of Tranexamic Acid (TXA) vs Oxytocin (OXY) in Reducing Post Partum Haemorrhage (PPH) in Patients at the End of Pregnancy (37-42 w), at Low Risk of PPH Unknown status NCT02775773 Phase 3 Tranexamic Acid;Oxytocin
39 A Pilot Trial To Assess The Feasibility And Efficacy Of Subcutaneous Immunoglobulin In Patients With Myasthenia Gravis Exacerbation Unknown status NCT02774239 Phase 3 Human normal immunoglobulin G (IgG)
40 Immunogenicity and Safety of the Japanese Encephalitis Vaccine IC51 (IXIARO®, JESPECT®) in a Pediatric Population in Non-endemic Countries. Uncontrolled, Open-label Phase 3 Study Completed NCT01047839 Phase 3
41 Effect of Inferior Alveolar and Gow-Gates Nerve Block Techniques for Symptomatic Mandibular Molars Completed NCT03117491 Phase 3
42 A Phase III Open, Randomized, Parallel, Multi-center Study in Children Aged 6 - 35 Months to Compare the Immunogenicity and Safety of a Single 0.5 mL Dose of Inflexal V With a 0.25 mL 2-dose Regimen of Inflexal V Administered According to a 0/4 Week Schedule Completed NCT01229397 Phase 3
43 Effect of Preoperative Oral Carbohydrates on Quality of Recovery: Randomized Controlled Trial Completed NCT02555020 Phase 3
44 A Phase III, Open-Label Study of Tenecteplase for Restoration of Function in Dysfunctional Hemodialysis (HD) Catheters Completed NCT00396253 Phase 3 Tenecteplase
45 A Phase III, Randomized, Double-Blind, Placebo-Controlled Study of Tenecteplase for Restoration of Function in Dysfunctional Central Venous Catheters Completed NCT00395876 Phase 3 placebo;tenecteplase
46 Ability of the New Vero-cell-derived Inactivated Japanese Encephalitis Vaccine (IXIARO) to Elicit a Booster Response in Travellers Previously Vaccinated With Traditional Mouse-brain Derived Vaccine (JE-MB) Completed NCT01386827 Phase 3
47 A Phase III, Open-Label, Single-Arm Study of Tenecteplase for Restoration of Function in Dysfunctional Central Venous Catheters Completed NCT00396318 Phase 3 tenecteplase
48 Dexamethasone Versus Placebo in Optimizing the Postoperative Period After Laparoscopic Inguinal Hernia Repair Completed NCT01170780 Phase 3 Dexamethasone;Saline
49 A Multicenter, Randomized, Double-blind, Placebo-controlled, 52-weeks Study to Demonstrate the Efficacy, Safety and Tolerability of Subcutaneous Secukinumab Injections With 2 mL Pre-filled Syringes (300 mg) in Adult Subjects With Moderate to Severe Plaque Psoriasis Completed NCT02748863 Phase 3 Placebo;Secukinumab 2 mL form;Secukinumab 1 mL form
50 Effect of Sodium Bicarbonate Buffered Lidocaine on the Success of Inferior Alveolar Nerve Block for Teeth With Symptomatic Irreversible Pulpitis: A Prospective, Randomized Double-blind Study Completed NCT02226913 Phase 3 2% lidocaine with 1:80,000 epinephrine;sodium bicarbonate;placebo

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 Mucolipidosis Type Ii 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:

40
Heart, Bone, Skin, Testes, Liver, Prostate, T Cells

Publications for Mucolipidosis Ii Alpha/beta

Articles related to Mucolipidosis Ii Alpha/beta:

(show top 50) (show all 410)
# Title Authors PMID Year
1
Mucolipidosis II: a single causal mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTAB) in a French Canadian founder population. 61 56 6 54
18190596 2008
2
Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity. 6 56 61
20880125 2011
3
Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations. 6 56 54
19659762 2009
4
Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase alpha/beta subunits in Korean patients with mucolipidosis type II or type IIIA. 6 56 54
16116615 2005
5
Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation. 6 56
19197337 2009
6
Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase. 56 6
16200072 2005
7
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. 54 6 61
16465621 2006
8
When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients. 54 56
16630736 2006
9
Prenatal mucolipidosis type II (I-cell disease) can present as Pacman dysplasia. 61 56
15887289 2005
10
Inheritance, biochemical abnormalities, and clinical features of feline mucolipidosis II: the first animal model of human I-cell disease. 56 61
14557388 2003
11
Spontaneous mucolipidosis in a cat: an animal model of human I-cell disease. 56 61
8826001 1996
12
Inter- and intrafamilial variability in mucolipidosis II (I-cell disease). 56 61
7628121 1995
13
First trimester prenatal evaluation for I-cell disease by N-acetyl-glucosamine 1-phosphotransferase assay. 56 61
2830069 1988
14
Altered molecular size of N-acetylglucosamine 1-phosphotransferase in I-cell disease and pseudo-Hurler polydystrophy. 56 61
2829837 1987
15
I-cell disease: clinical studies of 21 Japanese cases. 61 56
2998652 1985
16
Mucolipidosis II and III. The genetic relationships between two disorders of lysosomal enzyme biosynthesis. 61 56
6309902 1983
17
Mucolipidosis II. The clinical, radiological and biochemical features in three cases. 61 56
6137302 1983
18
Heterogeneity in mucolipidosis II (I-cell disease). 56 61
6839528 1983
19
Demonstration of the heterozygous state for I-cell disease and pseudo-Hurler polydystrophy by assay of N-acetylglucosaminylphosphotransferase in white blood cells and fibroblasts. 61 56
6289658 1982
20
Genetic heterogeneity of I-cell disease is demonstrated by complementation of lysosomal enzyme processing mutants. 56 61
6287841 1982
21
Two clonal cell populations (mosaicism) in a 46,XY male with mucolipidosis II (I-cell disease)--an autosomal recessive disorder. 61 56
6125101 1982
22
The mucolipidoses: identification by abnormal electrophoretic patterns of lysosomal hydrolases. 61 56
7282783 1981
23
Correction of I-cell defect by hybridization with lysosomal enzyme deficient human fibroblasts. 61 56
6772024 1980
24
Neuraminidase in cultured fibroblasts and leucocytes of homozygotes and heterozygotes for the mucolipidosis II gene (I-cell disease). 61 56
517575 1979
25
Serum hexosaminidase activity in I-cell disease carriers. 56 61
852874 1977
26
Deficit in neuraminidase associated with mucolipidosis II (I-cell disease). 61 56
990381 1976
27
Structure of the three major sialyl-oligosaccharides excreted in the urine of five patients with three distinct inborn diseases: "I cell disease" and two new types of mucolipidosis. 56 61
971412 1976
28
Increased levels of sialic acid associated with a sialidase deficiency in I-cell disease (mucolipidosis II) fibroblasts. 56 61
61029 1976
29
Abnormal lysosomal hydrolases excreted by cultured fibroblasts in I-cell disease (mucolipidosis II). 61 56
1201084 1975
30
I-cell disease, mucolipidosis II. Pathological, histochemical, ultrastructural and biochemical observations in four cases. 56 61
4353613 1973
31
A hypothesis for I-cell disease: defective hydrolases that do not enter lysosomes. 56 61
4345092 1972
32
I-cell disease: biochemical studies. 61 56
4346288 1972
33
Ultrastructure of cultured fibroblasts in I-cell disease. 61 56
5567403 1971
34
A novel mouse model of a patient mucolipidosis II mutation recapitulates disease pathology. 56
25107912 2014
35
GNPTAB-Related Disorders 6
20301728 2008
36
Molecular order in mucolipidosis II and III nomenclature. 56
18203164 2008
37
Distinguishing Pacman dysplasia from mucolipidosis II: comment on Saul et al. [2005]. 56
15887286 2005
38
Pacman dysplasia: a lethal skeletal dysplasia with variable radiographic features. 56
12709756 2003
39
Genetic defects of intracellular-membrane transport. 56
11027745 2000
40
Pacman dysplasia: report of two affected sibs. 56
9600734 1998
41
Mucolipidosis type II in a domestic shorthair cat. 56
8887204 1996
42
Hereditary disorders in Saguenay-Lac-St-Jean (Quebec, Canada). 56
1937486 1991
43
Thyroglobulin, the major and obligatory exportable protein of thyroid follicle cells, carries the lysosomal recognition marker mannose-6-phosphate. 56
3582367 1987
44
Trafficking of lysosomal enzymes in normal and disease states. 56
3003148 1986
45
Identification and characterization of cells deficient in the mannose 6-phosphate receptor: evidence for an alternate pathway for lysosomal enzyme targeting. 56
6298775 1983
46
Mucolipidosis II: unusual presentation with a congenital angulated fracture. 56
7105472 1982
47
The phosphomannosyl recognition system for intracellular and intercellular transport of lysosomal enzymes. 56
6279685 1982
48
Fusion with enucleated fibroblasts corrects "I-cell" defect. 56
6769689 1980
49
Hypersialyloligosacchariduria in mucolipidoses: a method for diagnosis. 56
657539 1978
50
Correction of human mucolipidosis II enzyme abnormalities in somatic cell hybrids. 56
562989 1977

Variations for Mucolipidosis Ii Alpha/beta

ClinVar genetic disease variations for Mucolipidosis Ii Alpha/beta:

6 (show top 50) (show all 347) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GNPTAB NM_024312.5(GNPTAB):c.3488del (p.Thr1163fs)deletion Pathogenic 623268 rs1566067386 12:102147264-102147264 12:101753486-101753486
2 GNPTAB NM_024312.5(GNPTAB):c.2455del (p.Glu819fs)deletion Pathogenic 642316 12:102158240-102158240 12:101764462-101764462
3 GNPTAB NM_024312.5(GNPTAB):c.3094del (p.Thr1032fs)deletion Pathogenic 813486 12:102154946-102154946 12:101761168-101761168
4 GNPTAB NM_024312.5(GNPTAB):c.1701del (p.Phe568fs)deletion Pathogenic 813487 12:102158994-102158994 12:101765216-101765216
5 GNPTAB NC_000012.12:g.(?_101747144)_(101796782_?)deldeletion Pathogenic 831427 12:102140922-102190560
6 GNPTAB NM_024312.5(GNPTAB):c.2991T>G (p.Tyr997Ter)SNV Pathogenic 860954 12:102155049-102155049 12:101761271-101761271
7 GNPTAB NM_024312.5(GNPTAB):c.2404C>T (p.Gln802Ter)SNV Pathogenic 839203 12:102158291-102158291 12:101764513-101764513
8 GNPTAB NM_024312.5(GNPTAB):c.2250del (p.Gln751fs)deletion Pathogenic 863726 12:102158445-102158445 12:101764667-101764667
9 GNPTAB NM_024312.5(GNPTAB):c.1956dup (p.Val653fs)duplication Pathogenic 840035 12:102158738-102158739 12:101764960-101764961
10 GNPTAB NM_024312.5(GNPTAB):c.1905_1908del (p.Glu637fs)deletion Pathogenic 856935 12:102158787-102158790 12:101765009-101765012
11 GNPTAB NM_024312.5(GNPTAB):c.310C>T (p.Gln104Ter)SNV Pathogenic 2763 rs137852896 12:102183729-102183729 12:101789951-101789951
12 GNPTAB NM_024312.5(GNPTAB):c.3565C>T (p.Arg1189Ter)SNV Pathogenic 2764 rs137852897 12:102147187-102147187 12:101753409-101753409
13 GNPTAB NM_024312.5(GNPTAB):c.3173C>G (p.Ser1058Ter)SNV Pathogenic 2765 rs137852898 12:102153884-102153884 12:101760106-101760106
14 GNPTAB NM_024312.5(GNPTAB):c.3474_3475del (p.His1158fs)deletion Pathogenic 2766 rs281865038 12:102147277-102147278 12:101753499-101753500
15 GNPTAB NM_024312.5(GNPTAB):c.2681G>A (p.Trp894Ter)SNV Pathogenic 2767 rs137852899 12:102158014-102158014 12:101764236-101764236
16 GNPTAB NM_024312.5(GNPTAB):c.2715+1G>ASNV Pathogenic 2768 rs281865031 12:102157979-102157979 12:101764201-101764201
17 GNPTAB NM_024312.5(GNPTAB):c.2572_2573GA[1] (p.Asn859fs)short repeat Pathogenic 2769 rs281865029 12:102158120-102158121 12:101764342-101764343
18 GNPTAB NM_024312.5(GNPTAB):c.1625_1626insC (p.Glu542fs)insertion Pathogenic 2770 rs281865027 12:102159069-102159070 12:101765291-101765292
19 GNPTAB NM_024312.5(GNPTAB):c.3501_3502TC[1] (p.Leu1168fs)short repeat Pathogenic 2771 rs34002892 12:102147248-102147249 12:101753470-101753471
20 GNPTAB NM_024312.5(GNPTAB):c.3335+1G>ASNV Pathogenic 2772 rs34940801 12:102151349-102151349 12:101757571-101757571
21 GNPTAB NM_024312.5(GNPTAB):c.3335+6T>GSNV Pathogenic 2773 rs34788341 12:102151344-102151344 12:101757566-101757566
22 GNPTAB NM_024312.5(GNPTAB):c.1120T>C (p.Phe374Leu)SNV Pathogenic 2775 rs137852900 12:102163963-102163963 12:101770185-101770185
23 GNPTAB NM_024312.5(GNPTAB):c.2533C>T (p.Gln845Ter)SNV Pathogenic 38419 rs281865028 12:102158162-102158162 12:101764384-101764384
24 GNPTAB NM_024312.5(GNPTAB):c.3145_3146insC (p.Gly1049fs)insertion Pathogenic 38422 rs281865033 12:102153911-102153912 12:101760133-101760134
25 GNPTAB NM_024312.5(GNPTAB):c.3231_3234dup (p.Tyr1079fs)duplication Pathogenic 38423 rs34256381 12:102153822-102153823 12:101760044-101760045
26 GNPTAB NM_024312.5(GNPTAB):c.3249+1G>ASNV Pathogenic 38424 rs281865012 12:102153807-102153807 12:101760029-101760029
27 GNPTAB NM_024312.5(GNPTAB):c.3434+1G>ASNV Pathogenic 38426 rs281865036 12:102150989-102150989 12:101757211-101757211
28 GNPTAB NM_024312.5(GNPTAB):c.2188delinsAAA (p.Leu730fs)indel Pathogenic 38418 rs34161232 12:102158507-102158507 12:101764729-101764729
29 GNPTAB NM_024312.5(GNPTAB):c.2659dup (p.Ser887fs)duplication Pathogenic 38420 rs281865030 12:102158035-102158036 12:101764257-101764258
30 GNPTAB NM_024312.5(GNPTAB):c.3569dup (p.Asn1190fs)duplication Pathogenic 38428 rs281865039 12:102147182-102147183 12:101753404-101753405
31 GNPTAB NM_024312.5(GNPTAB):c.171del (p.Asp58fs)deletion Pathogenic 39039 rs281864951 12:102190487-102190487 12:101796709-101796709
32 GNPTAB NM_024312.5(GNPTAB):c.2693dup (p.Tyr899fs)duplication Pathogenic 39057 rs281864999 12:102158001-102158002 12:101764223-101764224
33 GNPTAB NM_024312.5(GNPTAB):c.857dup (p.Asn287fs)duplication Pathogenic 39090 rs281864966 12:102164849-102164850 12:101771071-101771072
34 GNPTAB NM_024312.5(GNPTAB):c.914dup (p.Asp305fs)duplication Pathogenic 39091 rs281864967 12:102164792-102164793 12:101771014-101771015
35 GNPTAB NM_024312.5(GNPTAB):c.3252del (p.Pro1085fs)deletion Pathogenic 38425 rs281865035 12:102151433-102151433 12:101757655-101757655
36 GNPTAB NM_024312.5(GNPTAB):c.2664C>G (p.Tyr888Ter)SNV Pathogenic 39056 rs281864998 12:102158031-102158031 12:101764253-101764253
37 GNPTAB NM_024312.5(GNPTAB):c.2918dup (p.Pro974_Glu975insTer)duplication Pathogenic 38421 rs281865032 12:102155121-102155122 12:101761343-101761344
38 GNPTAB NM_024312.5(GNPTAB):c.940C>T (p.Gln314Ter)SNV Pathogenic 39092 rs281864968 12:102164357-102164357 12:101770579-101770579
39 GNPTAB NM_024312.5(GNPTAB):c.118-2A>GSNV Pathogenic 38412 rs281865023 12:102190542-102190542 12:101796764-101796764
40 GNPTAB NM_024312.5(GNPTAB):c.1196C>T (p.Ser399Phe)SNV Pathogenic 38413 rs281865026 12:102163887-102163887 12:101770109-101770109
41 GNPTAB NM_024312.5(GNPTAB):c.1581del (p.Cys528fs)deletion Pathogenic 38414 rs36007394 12:102159900-102159900 12:101766122-101766122
42 GNPTAB NM_024312.4(GNPTAB):c.1738TATA[3] (p.Ser581Ilefs)short repeat Pathogenic 38415 rs34924076 12:102158953-102158954 12:101765175-101765176
43 GNPTAB NM_024312.5(GNPTAB):c.1511del (p.Tyr504fs)deletion Pathogenic 857819 12:102159970-102159970 12:101766192-101766192
44 GNPTAB NM_024312.5(GNPTAB):c.1247G>A (p.Trp416Ter)SNV Pathogenic 844609 12:102163836-102163836 12:101770058-101770058
45 GNPTAB NM_024312.5(GNPTAB):c.890dup (p.Ser298fs)duplication Pathogenic 850178 12:102164816-102164817 12:101771038-101771039
46 GNPTAB NM_024312.5(GNPTAB):c.3613C>T (p.Arg1205Ter)SNV Pathogenic 38429 rs35333334 12:102142959-102142959 12:101749181-101749181
47 GNPTAB NM_024312.4(GNPTAB):c.555_556ins296 (p.?)insertion Pathogenic 38430 12:102179805-102179806 12:101786027-101786028
48 GNPTAB NM_024312.5(GNPTAB):c.612_615ACAG[1] (p.Thr206fs)short repeat Pathogenic 38432 rs281865024 12:102174352-102174355 12:101780574-101780577
49 GNPTAB NM_024312.5(GNPTAB):c.850del (p.Thr284fs)deletion Pathogenic 38434 rs34517004 12:102164857-102164857 12:101771079-101771079
50 GNPTAB NM_024312.5(GNPTAB):c.1331dup (p.Ser445fs)duplication Pathogenic 39030 rs281864976 12:102161891-102161892 12:101768113-101768114

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

73
# 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

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

7
# CNVD ID Chromosome 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 KEGG:

36
# Name Kegg Source Accession
1 Lysosome hsa04142

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.66 SMPD1 PSAP GM2A ARSH
2 11.58 SORT1 SMPD1 SLC17A5 PSAP NAGPA M6PR
3 10.52 CTSD CTSB

GO Terms for Mucolipidosis Ii Alpha/beta

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.11 SMPD1 PSAP GUSB GNPTG GM2A FUCA1
2 extracellular exosome GO:0070062 9.96 SMPD1 PSAP IGF2R GUSB GNPTG GM2A
3 Golgi apparatus GO:0005794 9.87 SORT1 NAGPA MBTPS1 M6PR IGF2R GNPTG
4 intracellular membrane-bounded organelle GO:0043231 9.85 SORT1 PSAP GUSB GNPTG CTSB BSG
5 late endosome GO:0005770 9.67 PSAP M6PR IGF2R
6 ficolin-1-rich granule lumen GO:1904813 9.65 GUSB CTSD CTSB
7 lysosomal membrane GO:0005765 9.63 SORT1 SLC17A5 PSAP M6PR IGF2R CTSD
8 melanosome GO:0042470 9.61 CTSD CTSB BSG
9 azurophil granule lumen GO:0035578 9.58 GUSB GM2A FUCA1
10 trans-Golgi network transport vesicle GO:0030140 9.46 SORT1 IGF2R
11 lysosomal lumen GO:0043202 9.43 SMPD1 PSAP GUSB GM2A FUCA1 CTSD
12 lysosome GO:0005764 9.36 SORT1 SMPD1 SLC17A5 PSAP M6PR IGF2R

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.73 SMPD1 OGA GUSB FUCA1
2 lysosome organization GO:0007040 9.54 NAGPA MBTPS1 GNPTAB
3 decidualization GO:0046697 9.51 CTSB BSG
4 glycosphingolipid metabolic process GO:0006687 9.5 SMPD1 PSAP GM2A
5 neutrophil degranulation GO:0043312 9.5 PSAP IGF2R GUSB GM2A FUCA1 CTSD
6 ceramide metabolic process GO:0006672 9.49 SMPD1 PSAP
7 glycosaminoglycan catabolic process GO:0006027 9.48 GUSB FUCA1
8 carbohydrate phosphorylation GO:0046835 9.46 GNPTG GNPTAB
9 lysosomal transport GO:0007041 9.43 PSAP M6PR IGF2R
10 positive regulation of hydrolase activity GO:0051345 9.4 PSAP GM2A
11 protein targeting to lysosome GO:0006622 9.33 SORT1 NAGPA M6PR
12 secretion of lysosomal enzymes GO:0033299 8.8 NAGPA M6PR GNPTAB

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity, acting on glycosyl bonds GO:0016798 9.46 SMPD1 OGA GUSB FUCA1
2 hydrolase activity GO:0016787 9.36 SMPD1 OGA NAGPA MBTPS1 GUSB GM2A
3 mannose binding GO:0005537 9.32 IGF2R BSG
4 UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity GO:0003976 9.26 GNPTG GNPTAB
5 retromer complex binding GO:1905394 9.13 SORT1 M6PR IGF2R

Sources for Mucolipidosis Ii Alpha/beta

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11 DGIdb
17 EFO
18 ExPASy
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32 ICD10
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35 IUPHAR
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43 MeSH
44 MESH via Orphanet
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