Mucolipidosis Iii Alpha/beta (MLIIIA)

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

Aliases & Classifications for Mucolipidosis Iii Alpha/beta

MalaCards integrated aliases for Mucolipidosis Iii Alpha/beta:

Name: Mucolipidosis Iii Alpha/beta 57 12 20 43 13 15
Pseudo-Hurler Polydystrophy 57 12 20 43 29 6 71
Mucolipidosis Iii 57 12 43 36 54
Mucolipidosis Iiia 57 43
Ml Iii Alpha/beta 57 58
Ml Iiia 57 43
Ml Iii 57 43
Mucolipidosis Type Iii Complementation Group a 73
Cariant Pseudo-Hurler Polydystrophy 73
Mucolipidosis, Type Iii, Alpha/beta 39
Mucolipidosis, Type Iii Alpha/beta 6
Mucolipidosis Type Iii Alpha/beta 58
Mucolipidosis Type 3 Alpha/beta 58
Mucolipidosis Iiia; Ml Iiia 57
Mucolipidosis Iii, Variant 43
Mucolipidosis Type 3a 20
Mucolipidosis Type 3 74
Ml 3 Alpha/beta 58
Ml 3 a 20
Mliiia 73
Ml3 20


Orphanet epidemiological data:

mucolipidosis type iii alpha/beta
Inheritance: Autosomal recessive; Prevalence: 1-5/10000 (Worldwide);


57 (Updated 05-Mar-2021)
autosomal recessive

symptoms noted at 2-3 years
allelic to mucolipidosis ii


mucolipidosis iii alpha/beta:
Inheritance autosomal recessive inheritance


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

Summaries for Mucolipidosis Iii Alpha/beta

MedlinePlus Genetics : 43 Mucolipidosis III alpha/beta is a disorder that affects many parts of the body. Signs and symptoms of this condition typically appear around age 3 and worsen slowly over time.Individuals with mucolipidosis III alpha/beta grow slowly and have short stature. They also have stiff joints and dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x-ray. Many affected individuals develop low bone mineral density (osteoporosis), which weakens the bones and makes them prone to fracture. Osteoporosis and progressive joint problems also cause bone pain that becomes more severe over time in people with mucolipidosis III alpha/beta.People with mucolipidosis III alpha/beta often have heart valve abnormalities and mild clouding of the clear covering of the eye (cornea). Their facial features become slightly thickened or "coarse" over time. Affected individuals may also develop frequent ear and respiratory infections. About half of people with this condition have mild intellectual disability or learning problems. Individuals with mucolipidosis III alpha/beta generally survive into adulthood, but they may have a shortened lifespan.

MalaCards based summary : Mucolipidosis Iii Alpha/beta, also known as pseudo-hurler polydystrophy, is related to mucolipidoses and niemann-pick disease, and has symptoms including stiff shoulders and thick skin. An important gene associated with Mucolipidosis Iii Alpha/beta is GNPTAB (N-Acetylglucosamine-1-Phosphate Transferase Subunits Alpha And Beta), and among its related pathways/superpathways are Lysosome and Glycosaminoglycan degradation. The drugs Racepinephrine and Epinephrine have been mentioned in the context of this disorder. Affiliated tissues include heart, eye and bone, and related phenotypes are intellectual disability and scoliosis

Disease Ontology : 12 A mucolipidosis that has material basis in mutation in the gene encoding the alpha/beta-subunits precursor gene of GLcNAc-phosphotransferase.

GARD : 20 Mucolipidosis III (ML III) is a rare and progressive metabolic disorder that involves our body's ability to break down certain fats (mucolipids). Symptoms typically present around age 3 and include developmental delay, joint pain, thickened skin, heart valve abnormalities, and intellectual disabilities or learning problems. Many individuals with ML III develop low bone density (osteoporosis), which causes pain and may lead to bone fractures. Heart deformities and repeated respiratory infections can reduce the individual's ability to breathe effectively and may result in death during mid-adulthood. ML III is caused by mutation in the GNPTAB gene, and is inherited in an autosomal recessive manner. Mucolipidosis III is diagnosed by testing the blood or urine for high levels of mucolipids, and the diagnosis can be confirmed by genetic testing. Treatment is focused on relieving the individual symptoms of each person.

OMIM® : 57 Mucolipidosis type III 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 less severe than the allelic disorder mucolipidosis type II alpha/beta (summary by Paik et al., 2005). (252600) (Updated 05-Mar-2021)

KEGG : 36 Mucolipidosis type III (MLIII), or pseudo-Hurler polydystrophy, is an autosomal recessive disorder affecting lysosomal hydrolase trafficking. The clinical phenotype is variable, and some MLIII patients survive to adulthood. MLIII is caused by the deficiency of GlcNac-1-phosphotransferase, that is exists as a heterohexamer comprising three subunits, alpha, beta, and gamma. It is encoded by two distinct genes, GNPTAB and GNPTAG.

UniProtKB/Swiss-Prot : 73 Mucolipidosis type III complementation group A: Autosomal recessive disease of lysosomal enzyme targeting. Clinically MLIII is characterized by restricted joint mobility, skeletal dysplasia, and short stature. Mildly coarsened facial features and thickening of the skin have been described. Cardiac valvular disease and corneal clouding may also occur. Half of the reported patients show learning disabilities or mental retardation.

Wikipedia : 74 Pseudo-Hurler polydystrophy, also referred to as mucolipidosis III (ML III), is a lysosomal storage... more...

Related Diseases for Mucolipidosis Iii Alpha/beta

Diseases in the Mucolipidosis family:

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

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

(show top 50) (show all 78)
# Related Disease Score Top Affiliating Genes
1 mucolipidoses 31.7 MCOLN1 GNPTG GNPTAB
2 niemann-pick disease 30.1 MCOLN1 M6PR CTSD
3 mucolipidosis iii gamma 30.1 MBTPS1 M6PR GNPTG GNPTAB
4 mucolipidosis 29.6 NAGPA MCOLN1 MBTPS1 M6PR GNPTG GNPTAB
5 mucopolysaccharidoses 29.5 NAGLU GUSB ARSB
6 mucolipidosis ii alpha/beta 28.9 NAGPA MBTPS1 M6PR GUSB GNPTG GNPTAB
7 lysosomal storage disease 28.6 NAGLU MCOLN1 M6PR GUSB FUCA1 CTSD
8 mucopolysaccharidosis-plus syndrome 27.3 NAGPA NAGLU MCOLN1 M6PR GUSB GNPTG
9 tarsal tunnel syndrome 10.3 GNPTG GNPTAB
10 tibial neuropathy 10.3 GNPTG GNPTAB
11 carpal tunnel syndrome 10.2
12 autosomal recessive disease 10.2
13 articulation disorder 10.1 NAGPA GNPTG GNPTAB
14 gingival hypertrophy 10.1 GNPTG GNPTAB
15 stuttering 10.1 NAGPA GNPTG GNPTAB
16 speech disorder 10.1 NAGPA GNPTG GNPTAB
17 atrial standstill 1 10.1
18 otitis media 10.1
19 umbilical hernia 10.1
20 parkinsonism 10.1
21 microcephaly 10.1
22 hypertrophic cardiomyopathy 10.1
23 dilated cardiomyopathy 10.1
24 dysostosis 10.1
25 mutism 10.1
26 pectus carinatum 10.1
27 tremor 10.1
28 lysosomal storage disease with skeletal involvement 10.1
29 spondylometaphyseal dysplasia, kozlowski type 10.1 MCOLN1 GNPTG
30 charcot-marie-tooth disease, axonal, type 2v 10.1 NAGLU GNPTAB
31 fabry disease 10.1 M6PR GUSB FUCA1
32 astigmatism 10.0
33 avascular necrosis 10.0
34 dyslexia 10.0 NAGPA GNPTG GNPTAB
35 lipase deficiency, combined 10.0 TM2D3 ASB7
36 short-rib thoracic dysplasia 9 with or without polydactyly 10.0 TM2D3 ASB7
37 gnptab-related disorders 10.0
38 gaucher's disease 10.0 M6PR GUSB CTSD
39 heinz body anemias 10.0 TM2D3 GNPTG ASB7
40 dysphagia 10.0
41 swallowing disorders 10.0
42 nerve compression syndrome 10.0
43 laryngotracheitis 9.9 FUCA2 FUCA1
44 skin hemangioma 9.9 FUCA2 FUCA1
45 hurler-scheie syndrome 9.9 NAGLU ARSB
46 pain sensitivity quantitative trait locus 1 9.9
47 scoliosis 9.9
48 polycystic kidney disease 9.9
49 mild cognitive impairment 9.9
50 tuberous sclerosis 9.9

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

Diseases related to Mucolipidosis Iii Alpha/beta

Symptoms & Phenotypes for Mucolipidosis Iii Alpha/beta

Human phenotypes related to Mucolipidosis Iii Alpha/beta:

31 (show all 27)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 scoliosis 31 HP:0002650
3 coarse facial features 31 HP:0000280
4 mandibular prognathia 31 HP:0000303
5 short stature 31 HP:0004322
6 retinopathy 31 HP:0000488
7 dysostosis multiplex 31 HP:0000943
8 broad ribs 31 HP:0000885
9 opacification of the corneal stroma 31 HP:0007759
10 specific learning disability 31 HP:0001328
11 split hand 31 HP:0001171
12 craniosynostosis 31 HP:0001363
13 thickened skin 31 HP:0001072
14 aortic regurgitation 31 HP:0001659
15 constrictive median neuropathy 31 HP:0012185
16 retinal degeneration 31 HP:0000546
17 short long bone 31 HP:0003026
18 short ribs 31 HP:0000773
19 j-shaped sella turcica 31 HP:0002680
20 shallow acetabular fossae 31 HP:0003182
21 hyperopic astigmatism 31 HP:0000484
22 carpal bone hypoplasia 31 HP:0001498
23 irregular carpal bones 31 HP:0004236
24 deficiency of n-acetylglucosamine-1-phosphotransferase 31 HP:0003264
25 increased serum beta-hexosaminidase 31 HP:0003333
26 increased serum iduronate sulfatase level 31 HP:0003538
27 soft tissue swelling of interphalangeal joints 31 HP:0006162

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skeletal Spine:
absence of dens
vertebral beaking

dysostosis multiplex

Skeletal Pelvis:
shallow acetabular fossae
flaring of iliac wings

Laboratory Abnormalities:
deficiency of n-acetylglucosamine-1-phosphotransferase
no mucopolysacchariduria
increased serum beta-hexosaminidase (10-20x)
increased serum iduronate sulfatase (10-20x)
increased serum aryl-sulfatase a (10-20x)

Neurologic Central Nervous System:
mental retardation
learning disabilities

Skeletal Limbs:
short long bones
shoulder stiffness
broad metaphyses

Chest Ribs Sternum Clavicles And Scapulae:
short, thick clavicles
wide, slightly short ribs

Growth Height:
short stature

Skeletal Skull:
j-shaped sella turcica
mandibular prognathism
premature closure of cranial sutures

Head And Neck Eyes:
hyperopic astigmatism
corneal clouding
mild retinopathy

Skeletal Hands:
soft tissue swelling of interphalangeal joints
carpal tunnel syndrome
claw-hand deformities
hand stiffness
small, irregular carpal bones

Cardiovascular Heart:
aortic insufficiency

Head And Neck Face:
mildly coarse facies

Skin Nails Hair Skin:
skin thickening

Clinical features from OMIM®:

252600 (Updated 05-Mar-2021)

UMLS symptoms related to Mucolipidosis Iii Alpha/beta:

stiff shoulders, thick skin

MGI Mouse Phenotypes related to Mucolipidosis Iii Alpha/beta:

# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.16 ARSB ASB7 CTSD FUCA1 GNPTAB GUSB
2 growth/size/body region MP:0005378 10.1 ARSB ASB7 CTSD GNPTAB GUSB M6PR
3 cellular MP:0005384 10.09 ARSB CTSD FUCA1 GNPTAB GUSB M6PR
4 hematopoietic system MP:0005397 9.97 ARSB ASB7 CTSD GNPTAB GUSB M6PR
5 homeostasis/metabolism MP:0005376 9.96 ARSB ASB7 CTSD FUCA1 GNPTAB GNPTG
6 hearing/vestibular/ear MP:0005377 9.77 ARSB CTSD FUCA1 GUSB NAGLU
7 integument MP:0010771 9.7 ASB7 CTSD GNPTAB GUSB MBTPS1 MCOLN1
8 renal/urinary system MP:0005367 9.5 ARSB FUCA1 GNPTAB GUSB M6PR MCOLN1
9 vision/eye MP:0005391 9.23 ARSB ASB7 CTSD GNPTAB M6PR MCOLN1

Drugs & Therapeutics for Mucolipidosis Iii Alpha/beta

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

(show top 50) (show all 174)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Racepinephrine Approved Phase 4 329-65-7 838
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
Entecavir Approved, Investigational Phase 4 142217-69-4 153941
Moxifloxacin Approved, Investigational Phase 4 151096-09-2, 354812-41-2 152946
tannic acid Approved Phase 4 1401-55-4
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
Labetalol Approved Phase 4 36894-69-6 3869
Nitroglycerin Approved, Investigational Phase 4 55-63-0 4510
Pilocarpine Approved, Investigational Phase 4 92-13-7, 54-71-7 5910
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
11 Anti-Asthmatic Agents Phase 4
12 Epinephryl borate Phase 4
13 Mydriatics Phase 4
14 Bronchodilator Agents Phase 4
15 gamma-Globulins Phase 4
16 Immunoglobulins, Intravenous Phase 4
17 Rho(D) Immune Globulin Phase 4
18 Liver Extracts Phase 4
19 Adrenergic alpha-Agonists Phase 4
20 Adrenergic beta-Agonists Phase 4
21 Adrenergic Agonists Phase 4
22 Vasoconstrictor Agents Phase 4
23 Respiratory System Agents Phase 4
24 Neurotransmitter Agents Phase 4
25 Pharmaceutical Solutions Phase 4
26 Cholinergic Agents Phase 4
27 Anti-Infective Agents Phase 4
28 Antiviral Agents Phase 4
29 Protective Agents Phase 4
30 Antioxidants Phase 4
31 Antibiotics, Antitubercular Phase 4
32 Ophthalmic Solutions Phase 4
33 Norgestimate, ethinyl estradiol drug combination Phase 4
34 Adrenergic alpha-1 Receptor Antagonists Phase 4
35 Adrenergic alpha-Antagonists Phase 4
36 Adrenergic beta-Antagonists Phase 4
37 Adrenergic Antagonists Phase 4
38 Antihypertensive Agents Phase 4
39 Adrenergic Agents Phase 4
40 Sympathomimetics Phase 4
41 Vasodilator Agents Phase 4
42 Muscarinic Agonists Phase 4
43 Expectorants Phase 4
44 N-monoacetylcystine Phase 4
Interferon beta-1a Approved, Investigational Phase 2, Phase 3 145258-61-3 6438354
Tranexamic Acid Approved Phase 3 1197-18-8 5526
Ketorolac Approved Phase 2, Phase 3 74103-06-3, 66635-83-4 3826
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 2, Phase 3 437-38-7 3345
Ropivacaine Approved Phase 2, Phase 3 84057-95-4 71273 175805
Triamcinolone Approved, Vet_approved Phase 3 124-94-7 31307

Interventional clinical trials:

(show top 50) (show all 62)
# Name Status NCT ID Phase Drugs
1 Entecavir Combined Short-term Intravenous Hepatitis B Immune Globulin (HBIG) to Prevent Hepatitis B Recurrence After Liver Transplantation Unknown status NCT02417207 Phase 4 Entecavir combined long-term low-dose HBIG group intramuscular;Entecavir combined HBIG group short-term high-dose intravenous
2 Bronchiolitis All-study, SE-Norway What is the Optimal Inhalation Treatment for Children 0-12 Months With Acute Bronchiolitis? Unknown status NCT00817466 Phase 4 Racemic adrenaline;Isotonic saline
3 Study of the Progression of Bacterial Conjunctivitis Symptoms Upon Antibiotic Treatment Completed NCT00798577 Phase 4 Vigamox Ophthalmic Solution;BSS placebo
4 Effects of Nitroglycerin Versus Labetalol on Tissue Perfusion During Deliberate Hypotension for Sinus Endoscopic Surgery. Completed NCT03809065 Phase 4 Nitroglycerin;Labetalol
5 Xerostomy Treatment in Patients With Sjogren's Syndrome in Chile :A Double Blind Control Trial Comparing Orally Pilocarpine Drops and Artificial Saliva Completed NCT00438048 Phase 4 Artificial Saliva
6 N-acetylcysteine, Sodium Bicarbonate and Normal Saline Alone Prophylaxis for Spiral Computed Tomography Pulmonary Angiography in the Emergency Department on Suspicion of Pulmonary Emboli: A Randomized Controlled Trial Completed NCT02483143 Phase 4 NAC;NaHCO3;Normal Saline
7 Clinical Study Phase III, Randomized, Double-blind, Prospective and Comparative to Evaluate the Efficacy and Tolerability of Using APETIVITON BC Compared to Petivit BC in Appetite Stimulate. Unknown status NCT01086865 Phase 3 Apetiviton BC
8 International, Multicenter, Double-blinded, Placebo-controlled, Randomized Study of the Efficacy and Safety of Drugs BCD-033 and Rebif for the Treatment of Patients With Relapsing-remitting Multiple Sclerosis Unknown status NCT02727907 Phase 2, Phase 3 BCD-033 (interferon beta 1a);Rebif (interferon beta 1a);Placebo
9 The Role of Inhalations of Tranexamic Acid in Patients With Hemoptysis Unknown status NCT01496196 Phase 3 tranexamic acid;tranexamic acid
10 Epidural Anesthesia as an Alternative for Management in Acute Pancreatitis, a Randomised Clinical Trial Unknown status NCT02617199 Phase 2, Phase 3 Epidural anesthesia;intravenous analgesia
11 Outcome in Shoulder Capsulitis (Frozen Shoulder) Between Corticosteroid and Corticosteroid With Distension Compared to Wait and See Policy, a Randomised Controlled Trial Unknown status NCT01570985 Phase 3 Triamcinolone Acetonide;Triamcinolone Acetonide
12 A Phase III, Stratified, Randomized, Controlled, Observer-Blind, Multicenter Study to Evaluate the Safety, Tolerability, and Immunogenicity of Two Doses of aH5N1when Administered to Adult and Elderly Subjects With and Without Immunosuppressive Conditions Completed NCT02107807 Phase 3
13 Phase III, Stratified, Randomized, Controlled, Observer-Blind, Multicenter Study to Evaluate the Safety, Tolerability, and Immunogenicity of Two Doses of aH5N1 When Administered to Adult and Elderly Subjects With and Without Underlying Medical Conditions. Completed NCT02091908 Phase 3
14 A Double-blind, Randomized, Multicenter Parallel-group Study on Efficacy of Desloratadine and Prednisolone Association Compared to Dexchlorpheniramine and Betamethasone Association in Children (2-12 Years) With Moderate - Severe Persistent Allergic Rhinitis Completed NCT01529229 Phase 3 Dexchlorpheniramine + Betamethasone;Desloratadine + Prednisolone
15 Safety and Immunogenicity Among Children Administered Quadrivalent Influenza Vaccine Completed NCT01240746 Phase 3
16 A Trial Investigating the Efficacy and Safety of Flexible vs. Fixed Dosing and Simple vs. Stepwise Titration With Once Daily Insulin Degludec in Inadequately Treated Subjects With Type 2 Diabetes Completed NCT01880736 Phase 3 insulin degludec;insulin degludec;insulin degludec
17 Multicenter Clinical Study, Phase III, Randomized, Double-blind, of Prospectively Evaluate the Effectiveness and Tolerability of Apevitin BC Comparing to Vitamin Complex in Appetite Stimulation Completed NCT01283646 Phase 3 Apevitin BC;Vitamin B Complex + Vitamin C
18 Multicentre Double-blind Placebo-controlled Parallel-group Randomized Clinical Trial of Safety and Clinical Efficacy of Ergoferon in Liquid Dosage Form in Treatment of Acute Upper Respiratory Tract Infections in Adult Patients Completed NCT01765920 Phase 3 Ergoferon;Placebo
19 A Randomized, Double-blind, Multi-center Comparison of the Efficacy and Safety of Certoparin (3000 U Anti-Xa o.d.) With Unfractionated Heparin (5000 IU t.i.d.) in the Prophylaxis of Thromboembolic Events in Acutely Ill Medical Patients Completed NCT00451412 Phase 3 Certoparin;Unfractionated Heparin
20 A Multi-Center, Randomized, Controlled Study to Demonstrate the Efficacy and Safety of Cyclosporine Inhalation Solution (CIS) in Improving Bronchiolitis Obliterans Syndrome-Free Survival Following Lung Transplantation Completed NCT00755781 Phase 3 Cyclosporine Inhalation Solution (CIS)
21 Effect of Liraglutide on Long-term Weight Maintenance and Additional Weight Loss Induced by a 4 to 12 Week Low Calorie Diet in Obese Subjects; A 56 Week Randomised, Double-blind, Placebo Controlled, Parallel Group, Multicentre Trial With a 12 Week Follow-up Period Completed NCT00781937 Phase 3 liraglutide;placebo
22 The Safety and Efficacy of Intralymphatic Immunotherapy in Pollen Allergic Adolescents and Young Adults With Asthma: A Randomized Placebo-controlled Trial Completed NCT03394508 Phase 2, Phase 3 ALK Alutard birch or 5-grasses;ALK diluent 0,3% human albumin
23 A Double-blind, Randomized, Multicenter Parallel-group Study on Efficacy of Desloratadine and Prednisolone Association Compared to Dexchlorpheniramine and Betamethasone Association in Children (2-12 Years) With Acute Cutaneous Rash Terminated NCT01529242 Phase 3 Desloratadine + Prednisolone;Dexchlorpheniramine + Betamethasone
24 Liraglutide 3.0mg/d for the Treatment of Binge Eating Disorder Terminated NCT03279731 Phase 3 Liraglutide (Saxenda) 6Mg/Ml Inj Pen 3Ml;Placebo
25 CIS002: An Open-Label, Multi-Center, Extension Study of Cyclosporine Inhalation Solution in Subjects Previously Enrolled in the APT Study CIS001 Terminated NCT00938236 Phase 3 Cyclosporine Inhalation Solution (CIS)
26 A Multicenter Double-blind, Placebo Controlled, Randomized, Pilot Trial to Assess the Efficacy of Pre-hospital Administration of Fibrinogen Concentrate (FGTW) in Trauma Patients, Presumed to Bleed (FI in TIC) Completed NCT01475344 Phase 1, Phase 2 Human Fibrinogen Concentrate;Placebo
27 Prevention of Brad Arrhythmia Induced by Repeated Succinylcholine by Atropine Sulfate During Gynecological Laparoscopic Surgery: a Randomized Controlled Trial Completed NCT02676011 Phase 2 IM atropine;IV atropine;Atropine mixed with second dose succinylcholine;IM normal saline;IV normal saline;Normal saline mixed with second dose succinylcholine
28 An Open-Label Safety And Blood Collection Study In Mnb Rlp2086 Vaccinated Healthy Adult Volunteers For Immunological Assay Development Completed NCT00780806 Phase 1, Phase 2
29 Effect of Liraglutide on Neural Responses to High Fructose Corn Syrup in Individuals With Obesity. Recruiting NCT03500484 Phase 2 Liraglutide
30 A Phase I/II, Two-Staged, Single-Center, Randomized, Double-Blind, Antibody Titer Study to Assess Immunogenicity and Safety of FluMist® Intranasal Influenza Vaccine Administered With and Without a TLR-3 Agonist, Ampligen®. Terminated NCT01591473 Phase 1, Phase 2 Poly I:Poly C12U 50 ug;Poly I:Poly C12U 200 ug;Poly I:Poly C12U 500 ug;Poly I:Poly C12U 1250 ug;Placebo;FluMist
31 A Phase 1 Randomized, Open-label, Parallel-group, Active- And Placebo-controlled Study To Assess Safety And Tolerability Of 60, 120, And 200 Mcg Meningococcal Group B Rlp2086 Vaccine In Healthy Adult Subjects Completed NCT00879814 Phase 1
32 A Randomised, Single Centre, Two Period, Incomplete Cross Over Trial in Healthy Subjects Investigating the Pharmacokinetics of Subcutaneous Injections With 1 mg/mL, 3 mg/mL, and 10 mg/mL Semaglutide Strengths and the Absolute Bioavailability of Semaglutide Completed NCT02231684 Phase 1 semaglutide;semaglutide
33 A Randomised, Single Centre, Double-blind, Incomplete Block Trial to Test for Equivalence Between Subcutaneous Injections of the GLP-1 Analogue NN9535 in 1 mg/ml, 3 mg/ml and 10 mg/ml Concentrations in Healthy Male Subject Completed NCT00813020 Phase 1 semaglutide;semaglutide;semaglutide
34 Safety and Immunological Response of a Boosting Dose of MVA-B in Healthy Volunteers After 4 Years of Receiving MVA-B Completed NCT01923610 Phase 1
35 A Phase I Study of MVA-B in Healthy Volunteers at Low Risk of HIV Infection Completed NCT00679497 Phase 1
36 A Double-blind Phase I Study to Evaluate the Safety of the HIV-1 Vaccine MVA-B in Chronic HIV-1 Infected Patients Successfully Treated With HAART Completed NCT01571466 Phase 1 Vaccination;Placebo
37 A Two-Part Phase I Study to Establish and Compare the Safety and Local Tolerability of Two Nasal Formulations of XF-73 for Decolonization of Staphylococcus Aureus: A Previously Investigated 0.5 mg/g Viscosified Gel Formulation Versus a Modified Formulation Completed NCT01592214 Phase 1 XF-73 in 2% Klucel gel;XF-73 in 4% Klucel gel
38 A Phase 1 Open Label Study to Investigate the Safety, Tolerability and Pharmacokinetic Profile of Single and Repeated Doses of JSM6427 Following Administration by Intravitreal Injection in Patients With Neovascular AMD Completed NCT00536016 Phase 1 JSM6427
39 Phase I, Prospective, Randomised, Controlled Study on the Safety and Efficacy of Nebulised Liposomal Amphotericin as an Adjuvant Treatment for Invasive Pulmonary Aspergillosis Recruiting NCT04267497 Phase 1 Amphotericin B Liposomal 50 MG
40 A Phase 1 Open-Label, Dose Escalation Study to Determine the Optimal Dose, Safety, and Activity of AAV2hAQP1 in Subjects With Radiation-Induced Parotid Gland Hypofunction and Xerostomia Recruiting NCT04043104 Phase 1 intra-parotid administration of AAV2hAQP1
41 Genetics of Environmental Asthma: Differential Gene Expression in the Lung and Peripheral Blood After Inhaled Allergen Challenge Terminated NCT00671593 Phase 1
42 Peribulbar and Subconjunctival Kenalog Injection for Thyroid Orbitopathy Unknown status NCT01280214 Triamcinolone
43 The Effect of Ultrasound Guided Blockade of the Femoral Nerve, the Anterior Division of the Obturator Nerve, and the Lateral Femoral Cutaneous Nerve on Postoperative Pain, Morphine Consumption, and Mobilization After Total Hip Arthroplasty. Unknown status NCT01276925 Ropivacaine;Ropivacaine;Saline;Bupivacaine
44 PEF-Block & Ribs Fractures Effect of Posterior Exo-thoracic Fascia Block in the Pain Management of Ribs Fractures: a Prospective, Randomized Study Unknown status NCT03396692
45 Use of Combined Tranexamic Acid and Intravenous Iron for Hip Fracture Surgery in Elderly Unknown status NCT02428868 tranexamic acid (Exacyl®);intravenous iron (Ferroven®)
46 Non-invasive Diagnostics of Pulmonary Hypertension With Dual Energy Computed Tomography - Prospective Study Completed NCT01829672
47 Multimodal Perioperative Pain Management of Circumferential Lumbar Fusion Improves Recovery Completed NCT01513564 Postoperative epidural morphine;Local anaesthesia
48 Non-invasive Diagnostics of Pulmonary Hypertension With Dual Energy Computed Tomography - Pilot Study Completed NCT01607489
49 Epidural Anesthesia and Postoperative Analgesia With Ropivacaine and Fentanyl in Off-pump Coronary Artery Bypass Grafting Completed NCT01384175
50 Monitoring Influenza Severity on Tamiflu (MIST) Completed NCT00555893 Oseltamivir;Placebo

Search NIH Clinical Center for Mucolipidosis Iii Alpha/beta

Genetic Tests for Mucolipidosis Iii Alpha/beta

Genetic tests related to Mucolipidosis Iii Alpha/beta:

# Genetic test Affiliating Genes
1 Pseudo-Hurler Polydystrophy 29 GNPTAB

Anatomical Context for Mucolipidosis Iii Alpha/beta

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

Heart, Eye, Bone, Liver, Whole Blood, Thyroid, Prostate

Publications for Mucolipidosis Iii Alpha/beta

Articles related to Mucolipidosis Iii Alpha/beta:

(show top 50) (show all 83)
# Title Authors PMID Year
Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations. 54 57 6
19659762 2009
Missense mutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotype. 61 57 6
16094673 2005
Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation. 6 57
19197337 2009
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 57
16116615 2005
A splicing mutation in the alpha/beta GlcNAc-1-phosphotransferase gene results in an adult onset form of mucolipidosis III associated with sensory neuropathy and cardiomyopathy. 57 6
15633164 2005
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 61 6
16465621 2006
When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients. 54 57
16630736 2006
Clinical variability in mucolipidosis III (pseudo-Hurler polydystrophy). 57 61
11891688 2002
Connective tissue naevus with pseudo-Hurler polydystrophy. 61 57
8186124 1994
A mild form of mucolipidosis type III in four Baluch siblings. 57 61
8131303 1993
Ophthalmologic findings in mucolipidosis III (pseudo-Hurler polydystrophy). 61 57
3777077 1986
Mucolipidosis II and III. The genetic relationships between two disorders of lysosomal enzyme biosynthesis. 61 57
6309902 1983
Mucolipidosis III is genetically heterogeneous. 57 61
6961420 1982
Identification of a variant of mucolipidosis III (pseudo-Hurler polydystrophy): a catalytically active N-acetylglucosaminylphosphotransferase that fails to phosphorylate lysosomal enzymes. 61 57
6461005 1981
Mucolipidosis III (pseudo-Hurler polydystrophy): Clinical and laboratory studies in a series of 12 patients. 61 57
810612 1975
Acid hydrolase deficiencies and abnormal glycoproteins in mucolipidosis. 3 (pseudo-Hurler polydystrophy). 57 61
4208016 1974
Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity. 6
20880125 2011
Mucolipidosis II: a single causal mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTAB) in a French Canadian founder population. 6
18190596 2008
Molecular order in mucolipidosis II and III nomenclature. 57
18203164 2008
The osteodystrophy of mucolipidosis type III and the effects of intravenous pamidronate treatment. 57
12705498 2002
Mucolipidosis III presenting as a rheumatological disorder. 57
8441145 1993
An atypical form of mucolipidosis III. 57
1453439 1992
Heterogeneity of N-acetylglucosamine 1-phosphotransferase within mucolipidosis III. 57
3001079 1986
Homozygosity for the variant alpha-L-fucosidase trait and mucolipidosis III. 57
3997153 1985
Structure of nine sialyl-oligosaccharides accumulated in urine of eleven patients with three different types of sialidosis. Mucolipidosis II and two new types of mucolipidosis. 57
885137 1977
Mucolipidosis III: two patients displaying genetic pleiotropism. 57
850847 1977
The Hurler syndrome without abnormal mucopolysacchariduria. 57
4230591 1968
[Hurler's pseudo-polydystrophy]. 57
4958870 1966
The genetic mucopolysaccharidoses. 57
4221470 1965
Loss of N-acetylglucosamine-1-phosphotransferase gamma subunit due to intronic mutation in GNPTG causes mucolipidosis type III gamma: Implications for molecular and cellular diagnostics. 54 61
20034096 2010
Phosphorylation and subcellular location of alpha-L-fucosidase in lymphoid cells from patients with I-cell disease and pseudo-Hurler polydystrophy. 54 61
8286862 1993
Biosynthesis, processing, and secretion of alpha-L-fucosidase in lymphoid cells from patients with I-cell disease and pseudo-Hurler polydystrophy. 61 54
1822239 1991
Rare Association of Mucolipidosis III alpha/beta with Dilated Cardiomyopathy. 61
30610051 2018
GNPTAB c.2404C > T nonsense mutation in a patient with mucolipidosis III alpha/beta: a case report. 61
30208878 2018
Mucolipidosis Type III: A Rare Disease in Differential Diagnosis of Joint Stiffness in Pediatric Rheumatology. 61
29900995 2018
Neurologic abnormalities in mouse models of the lysosomal storage disorders mucolipidosis II and mucolipidosis III γ. 61
25314316 2014
An adult patient with mucolipidosis III alpha/beta presenting with parkinsonism. 61
22906612 2013
Enlarged follicles and temporomandibular joint abnormalities in mucolipidosis Type III. 61
22241869 2013
Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma. 54
19370764 2009
20301730 2008
Missense mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTA) in a patient with mucolipidosis II induces changes in the size and cellular distribution of GNPTG. 61
16835905 2006
A novel mutation in UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) in two siblings with mucolipidosis type III alters a used glycosylation site. 54
15532026 2004
A mucolipidosis III patient presenting characteristic sonographic and magnetic resonance imaging findings of claw hand deformity. 61
15361946 2004
Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III. 54
15060128 2004
Biochemical characteristics of a Korean patient with mucolipidosis III (pseudo-Hurler polydystrophy). 61
14555827 2003
Ophthalmological findings in a patient with mucolipidosis III (pseudo-hurler polydystrophy). A case report. 61
12564313 2002
Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC) 61
10712439 2000
[I-cell disease and pseudo-Hurler polydystrophy]. 61
11031999 2000
Mucolipidosis III (pseudo-Hurler polydystrophy); clinical studies in aged patients in one family. 61
9077513 1997
[Mucolipidosis type III (case report)]. 61
8759415 1996

Variations for Mucolipidosis Iii Alpha/beta

ClinVar genetic disease variations for Mucolipidosis Iii Alpha/beta:

6 (show top 50) (show all 390)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GNPTAB NM_024312.5(GNPTAB):c.771G>A (p.Leu257=) SNV Pathogenic 2761 rs281865025 12:102173930-102173930 12:101780152-101780152
2 GNPTAB NM_024312.5(GNPTAB):c.1220A>C (p.Asp407Ala) SNV Pathogenic 2762 rs137852895 12:102163863-102163863 12:101770085-101770085
3 GNPTAB NM_024312.5(GNPTAB):c.1985C>G (p.Ala662Gly) SNV Pathogenic 38416 rs142172397 12:102158710-102158710 12:101764932-101764932
4 GNPTAB NM_024312.5(GNPTAB):c.771G>A (p.Leu257=) SNV Pathogenic 2761 rs281865025 12:102173930-102173930 12:101780152-101780152
5 GNPTAB NM_024312.5(GNPTAB):c.1001G>A (p.Arg334Gln) SNV Pathogenic 39018 rs281864970 12:102164296-102164296 12:101770518-101770518
6 GNPTAB NM_024312.5(GNPTAB):c.1208T>C (p.Ile403Thr) SNV Pathogenic 39026 rs281864973 12:102163875-102163875 12:101770097-101770097
7 GNPTAB NM_024312.5(GNPTAB):c.1285-2A>G SNV Pathogenic 39028 rs281864974 12:102161940-102161940 12:101768162-101768162
8 GNPTAB NM_024312.5(GNPTAB):c.168T>A (p.Tyr56Ter) SNV Pathogenic 39038 rs281864950 12:102190490-102190490 12:101796712-101796712
9 GNPTAB NM_024312.5(GNPTAB):c.242G>T (p.Trp81Leu) SNV Pathogenic 39053 rs281864953 12:102183797-102183797 12:101790019-101790019
10 GNPTAB NM_024312.5(GNPTAB):c.2777A>C (p.Gln926Pro) SNV Pathogenic 39060 rs281865002 12:102155480-102155480 12:101761702-101761702
11 GNPTAB NM_024312.5(GNPTAB):c.2866C>T (p.His956Tyr) SNV Pathogenic 39061 rs281865004 12:102155391-102155391 12:101761613-101761613
12 GNPTAB NM_024312.5(GNPTAB):c.2867A>G (p.His956Arg) SNV Pathogenic 39062 rs281865005 12:102155390-102155390 12:101761612-101761612
13 GNPTAB NM_024312.5(GNPTAB):c.3458A>G (p.Asn1153Ser) SNV Pathogenic 39075 rs281865019 12:102147294-102147294 12:101753516-101753516
14 GNPTAB NM_024312.5(GNPTAB):c.44C>A (p.Ser15Tyr) SNV Pathogenic 39081 rs281864947 12:102224410-102224410 12:101830632-101830632
15 GNPTAB NM_024312.5(GNPTAB):c.571+3A>C SNV Pathogenic 39083 rs281864960 12:102179787-102179787 12:101786009-101786009
16 GNPTAB NM_024312.5(GNPTAB):c.22A>G (p.Arg8Gly) SNV Pathogenic 684627 rs1594269995 12:102224432-102224432 12:101830654-101830654
17 GNPTAB NM_024312.5(GNPTAB):c.3565C>T (p.Arg1189Ter) SNV Pathogenic 2764 rs137852897 12:102147187-102147187 12:101753409-101753409
18 GNPTAB NM_024312.5(GNPTAB):c.3335+6T>G SNV Pathogenic 2773 rs34788341 12:102151344-102151344 12:101757566-101757566
19 GNPTAB NM_024312.5(GNPTAB):c.10A>C (p.Lys4Gln) SNV Pathogenic 2774 rs34159654 12:102224444-102224444 12:101830666-101830666
20 GNPTAB NM_024312.5(GNPTAB):c.1120T>C (p.Phe374Leu) SNV Pathogenic 2775 rs137852900 12:102163963-102163963 12:101770185-101770185
21 GNPTAB NM_024312.5(GNPTAB):c.1196C>T (p.Ser399Phe) SNV Pathogenic 38413 rs281865026 12:102163887-102163887 12:101770109-101770109
22 GNPTAB NM_024312.5(GNPTAB):c.2572_2573GA[1] (p.Asn859fs) Microsatellite Pathogenic 2769 rs281865029 12:102158120-102158121 12:101764342-101764343
23 GNPTAB NM_024312.5(GNPTAB):c.2715+1G>A SNV Pathogenic 2768 rs281865031 12:102157979-102157979 12:101764201-101764201
24 GNPTAB NM_024312.5(GNPTAB):c.3613C>T (p.Arg1205Ter) SNV Pathogenic 38429 rs35333334 12:102142959-102142959 12:101749181-101749181
25 GNPTAB NM_024312.5(GNPTAB):c.1000C>T (p.Arg334Ter) SNV Pathogenic 39017 rs281864969 12:102164297-102164297 12:101770519-101770519
26 GNPTAB NM_024312.5(GNPTAB):c.1325G>A (p.Cys442Tyr) SNV Pathogenic 39029 rs281864975 12:102161898-102161898 12:101768120-101768120
27 GNPTAB NM_024312.5(GNPTAB):c.1514G>A (p.Cys505Tyr) SNV Pathogenic 39035 rs281864980 12:102159967-102159967 12:101766189-101766189
28 GNPTAB NM_024312.5(GNPTAB):c.2693del (p.Lys898fs) Deletion Pathogenic 39058 rs281864999 12:102158002-102158002 12:101764224-101764224
29 GNPTAB NM_024312.5(GNPTAB):c.2715+2T>G SNV Pathogenic 39059 rs281865001 12:102157978-102157978 12:101764200-101764200
30 GNPTAB NM_024312.5(GNPTAB):c.3439_3442TTTG[1] (p.Val1148fs) Microsatellite Pathogenic 39074 rs281865018 12:102147306-102147309 12:101753528-101753531
31 GNPTAB NM_024312.5(GNPTAB):c.517_518insA (p.Pro173fs) Insertion Pathogenic 39082 rs281864957 12:102179843-102179844 12:101786065-101786066
32 GNPTAB NM_024312.5(GNPTAB):c.1385dup (p.Asp462fs) Duplication Pathogenic 39033 rs281864978 12:102161837-102161838 12:101768059-101768060
33 GNPTAB NM_024312.5(GNPTAB):c.2354T>G (p.Leu785Trp) SNV Pathogenic 100738 rs144060383 12:102158341-102158341 12:101764563-101764563
34 GNPTAB NM_024312.5(GNPTAB):c.3741_3744del (p.Glu1248fs) Deletion Pathogenic 39078 rs281865022 12:102140969-102140972 12:101747191-101747194
35 GNPTAB NM_024312.5(GNPTAB):c.2715+1G>A SNV Pathogenic 2768 rs281865031 12:102157979-102157979 12:101764201-101764201
36 GNPTAB NM_024312.5(GNPTAB):c.3565C>T (p.Arg1189Ter) SNV Pathogenic 2764 rs137852897 12:102147187-102147187 12:101753409-101753409
37 GNPTAB NM_024312.5(GNPTAB):c.3335+6T>G SNV Pathogenic 2773 rs34788341 12:102151344-102151344 12:101757566-101757566
38 GNPTAB NM_024312.5(GNPTAB):c.3439_3442TTTG[1] (p.Val1148fs) Microsatellite Pathogenic 39074 rs281865018 12:102147306-102147309 12:101753528-101753531
39 GNPTAB NM_024312.5(GNPTAB):c.612_615ACAG[1] (p.Thr206fs) Microsatellite Pathogenic 38432 rs281865024 12:102174352-102174355 12:101780574-101780577
40 GNPTAB NM_024312.5(GNPTAB):c.1399del (p.Asp467fs) Deletion Pathogenic 39034 rs397507448 12:102161824-102161824 12:101768046-101768046
41 GNPTAB NM_024312.5(GNPTAB):c.3091C>T (p.Arg1031Ter) SNV Pathogenic 39065 rs281865009 12:102154949-102154949 12:101761171-101761171
42 GNPTAB NM_024312.5(GNPTAB):c.99del (p.Ala34fs) Deletion Pathogenic 496456 rs1408113895 12:102224355-102224355 12:101830577-101830577
43 GNPTAB NM_024312.5(GNPTAB):c.1955_1958TAGT[1] (p.Ser654fs) Microsatellite Pathogenic 39041 rs281864983 12:102158733-102158736 12:101764955-101764958
44 GNPTAB NM_024312.5(GNPTAB):c.1090C>T (p.Arg364Ter) SNV Pathogenic 39021 rs200646278 12:102164207-102164207 12:101770429-101770429
45 GNPTAB NM_024312.5(GNPTAB):c.1759C>T (p.Arg587Ter) SNV Pathogenic 39040 rs281864982 12:102158936-102158936 12:101765158-101765158
46 GNPTAB NM_024312.5(GNPTAB):c.3613C>T (p.Arg1205Ter) SNV Pathogenic 38429 rs35333334 12:102142959-102142959 12:101749181-101749181
47 GNPTAB NM_024312.5(GNPTAB):c.2572_2573GA[1] (p.Asn859fs) Microsatellite Pathogenic 2769 rs281865029 12:102158120-102158121 12:101764342-101764343
48 GNPTAB NM_024312.5(GNPTAB):c.136C>T (p.Arg46Ter) SNV Pathogenic 39031 rs78347057 12:102190522-102190522 12:101796744-101796744
49 GNPTAB NM_024312.5(GNPTAB):c.342_343CA[1] (p.Thr115fs) Microsatellite Pathogenic 39073 rs281864954 12:102182346-102182347 12:101788568-101788569
50 GNPTAB NM_024312.5(GNPTAB):c.2455del (p.Glu819fs) Deletion Pathogenic 642316 rs1594213713 12:102158240-102158240 12:101764462-101764462

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

73 (show all 16)
# Symbol AA change Variation ID SNP ID
1 GNPTAB p.Asp407Ala VAR_025416 rs137852895
2 GNPTAB p.Lys4Gln VAR_027509 rs34159654
3 GNPTAB p.Phe374Leu VAR_062807 rs137852900
4 GNPTAB p.Ser399Phe VAR_062808 rs281865026
5 GNPTAB p.Ile403Thr VAR_062809 rs281864973
6 GNPTAB p.Cys442Tyr VAR_062810 rs281864975
7 GNPTAB p.Cys461Gly VAR_062811 rs281864977
8 GNPTAB p.Gln926Pro VAR_062812 rs281865002
9 GNPTAB p.His956Tyr VAR_062813 rs281865004
10 GNPTAB p.Asn1153Ser VAR_062815 rs281865019
11 GNPTAB p.Trp81Leu VAR_070831 rs281864953
12 GNPTAB p.Arg334Gln VAR_073128 rs281864970
13 GNPTAB p.Cys468Ser VAR_073129 rs281864979
14 GNPTAB p.Arg587Pro VAR_073131 rs143788461
15 GNPTAB p.Gly575Arg VAR_074206
16 GNPTAB p.Thr644Met VAR_074207 rs386765812

Expression for Mucolipidosis Iii Alpha/beta

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

Pathways for Mucolipidosis Iii Alpha/beta

Pathways related to Mucolipidosis Iii Alpha/beta according to KEGG:

# Name Kegg Source Accession
1 Lysosome hsa04142

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

# Super pathways Score Top Affiliating Genes
Show member pathways
3 10.41 FUCA2 FUCA1

GO Terms for Mucolipidosis Iii Alpha/beta

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

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.91 NAGLU GUSB GNPTG FUCA2 FUCA1 CTSD
2 Golgi apparatus GO:0005794 9.8 NAGPA MCOLN1 MBTPS1 M6PR GNPTG GNPTAB
3 ficolin-1-rich granule lumen GO:1904813 9.5 GUSB CTSD ARSB
4 azurophil granule lumen GO:0035578 9.46 GUSB FUCA2 FUCA1 ARSB
5 lysosomal lumen GO:0043202 9.35 NAGLU GUSB FUCA1 CTSD ARSB
6 lysosome GO:0005764 9.23 NAGLU MCOLN1 M6PR GUSB FUCA2 FUCA1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.73 NAGPA GUSB FUCA2 FUCA1
2 neutrophil degranulation GO:0043312 9.72 GUSB FUCA2 FUCA1 CTSD ARSB
3 metabolic process GO:0008152 9.56 NAGLU GUSB FUCA2 FUCA1
4 carbohydrate phosphorylation GO:0046835 9.49 GNPTG GNPTAB
5 lysosomal transport GO:0007041 9.48 M6PR ARSB
6 protein targeting to lysosome GO:0006622 9.46 NAGPA M6PR
7 fucose metabolic process GO:0006004 9.4 FUCA2 FUCA1
8 glycoside catabolic process GO:0016139 9.37 FUCA2 FUCA1
9 glycosaminoglycan catabolic process GO:0006027 9.33 NAGLU GUSB FUCA1
10 secretion of lysosomal enzymes GO:0033299 9.13 NAGPA M6PR GNPTAB
11 lysosome organization GO:0007040 9.02 NAGPA NAGLU MBTPS1 GNPTAB ARSB

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.76 NAGPA NAGLU MBTPS1 GUSB FUCA2 FUCA1
2 UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity GO:0003976 9.26 GNPTG GNPTAB
3 alpha-L-fucosidase activity GO:0004560 8.96 FUCA2 FUCA1
4 hydrolase activity, acting on glycosyl bonds GO:0016798 8.92 NAGLU GUSB FUCA2 FUCA1

Sources for Mucolipidosis Iii Alpha/beta

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
70 Tocris
72 UMLS via Orphanet
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