MLII
MCID: MCL062
MIFTS: 68

Mucolipidosis Ii Alpha/beta (MLII)

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

Aliases & Classifications for Mucolipidosis Ii Alpha/beta

MalaCards integrated aliases for Mucolipidosis Ii Alpha/beta:

Name: Mucolipidosis Ii Alpha/beta 57 12 43 13 15
I-Cell Disease 57 12 43 58 73 54
Mucolipidosis Type Ii 43 58 73 29 6
Mucolipidosis Ii 57 12 43 36
Inclusion Cell Disease 20 43 73
Icd 57 20 73
Inclusion-Cell Disease 12 74
Mucolipidosis 2 20 71
I Cell Disease 74 20
Mlii 43 73
Deficiency of N-Acetylglucosamine-1-Phosphotransferase 29
N-Acetylglucosamine 1-Phosphotransferase Deficiency 58
N-Acetylglucosamine 1phosphotransferase Deficiency 20
Mucolipidosis, Type Ii, Alpha/beta 39
Mucolipidosis Type Ii Alpha/beta 58
Mucolipidosis Ii; Ml Ii 57
Type Ii Mucolipidosis 71
I-Cell Disease; Icd 57
Ml Disorder Type 2 20
Ml Ii Alpha/beta 57
Leroy Disease 20
Ml Ii 57
Gnpta 20
Ml 2 20
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®:

57 (Updated 05-Mar-2021)
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
Onset and clinical course death in childhood


Classifications:

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


Summaries for Mucolipidosis Ii Alpha/beta

MedlinePlus Genetics : 43 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 mucolipidoses and mucolipidosis iii gamma. 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 Racepinephrine and Epinephrine have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and liver, 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.

GARD : 20 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® : 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) (Updated 05-Mar-2021)

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 705)
# Related Disease Score Top Affiliating Genes
1 mucolipidoses 32.2 GNPTG GNPTAB
2 mucolipidosis iii gamma 31.8 MBTPS1 M6PR GNPTG GNPTAB
3 niemann-pick disease, type c2 30.3 SMPD1 PSAP
4 glycoproteinosis 30.3 PSAP GALNS
5 mucopolysaccharidoses 30.1 IDUA GUSB ARSH
6 gangliosidosis 29.9 PSAP GM2A GALNS
7 gingival hypertrophy 29.6 IDUA GNPTG GNPTAB
8 mucolipidosis iii alpha/beta 29.5 NAGPA MBTPS1 M6PR GUSB GNPTG GNPTAB
9 hurler syndrome 29.4 IDUA GNPTG GNPTAB GALNS FUCA1
10 lysosomal storage disease 29.4 SMPD1 PSAP M6PR IDUA GUSB GM2A
11 speech disorder 29.4 NAGPA GNPTG GNPTAB ARSH
12 galactosialidosis 29.2 PSAP M6PR IDUA GALNS
13 gm1 gangliosidosis 29.2 PSAP IDUA GM2A GALNS
14 neuronal ceroid lipofuscinosis 29.1 SORT1 SMPD1 PSAP M6PR CTSD
15 fucosidosis 29.1 IDUA GALNS FUCA1
16 scheie syndrome 28.9 IDUA GUSB GALNS FUCA1
17 mucolipidosis 28.6 SMPD1 PSAP NAGPA MBTPS1 M6PR GNPTG
18 tay-sachs disease 28.6 SMPD1 PSAP OGA M6PR IDUA GM2A
19 niemann-pick disease 28.5 SMPD1 PSAP M6PR IGF2R IDUA GM2A
20 mucopolysaccharidosis-plus syndrome 27.1 SMPD1 OGA NAGPA M6PR IGF2R IDUA
21 reactive arthritis 11.1
22 personality disorder 11.0
23 neurotic disorder 11.0
24 cardiac arrest 11.0
25 mood disorder 10.9
26 alcohol dependence 10.9
27 somatization disorder 10.9
28 brugada syndrome 10.9
29 carcinoid tumors, intestinal 10.9
30 meningioma, radiation-induced 10.9
31 meningioma, familial 10.9
32 spinal meningioma 10.9
33 carcinoid syndrome 10.9
34 schizophrenia 10.9
35 alcohol use disorder 10.9
36 conversion disorder 10.9
37 catecholaminergic polymorphic ventricular tachycardia 10.9
38 tic disorder 10.9
39 short qt syndrome 10.9
40 impulse control disorder 10.9
41 cannabis dependence 10.9
42 dysphagia 10.9
43 asperger syndrome 10.9
44 mild cognitive impairment 10.9
45 premature ejaculation 10.9
46 allergic contact dermatitis 10.8
47 cardiomyopathy, familial hypertrophic, 1 10.8
48 conotruncal heart malformations 10.8
49 myofibrillar myopathy 10.8
50 hypertensive heart disease 10.8

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

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 postnatal growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0008897
6 motor delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001270
7 hoarse voice 58 31 hallmark (90%) Very frequent (99-80%) HP:0001609
8 thickened skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0001072
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 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
28 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
29 recurrent respiratory infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0002205
30 abnormal aortic valve morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001646
31 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
32 talipes equinovarus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001762
33 left ventricular hypertrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001712
34 fine hair 58 31 occasional (7.5%) Occasional (29-5%) HP:0002213
35 hip dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002827
36 weight loss 58 31 occasional (7.5%) Occasional (29-5%) HP:0001824
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®:

57 (Updated 05-Mar-2021)
Head And Neck Mouth:
macroglossia
progressive alveolar ridge hypertrophy

Abdomen Liver:
hepatomegaly

Abdomen External Features:
umbilical hernia
diastasis recti
abdominal protuberance

Cardiovascular Heart:
cardiomegaly
congestive heart failure
hypertrophic cardiomyopathy
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 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Mucolipidosis Ii Alpha/beta:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.13 CTSB CTSD FUCA1 GALNS GNPTAB GUSB
2 behavior/neurological MP:0005386 10.06 CTSB CTSD FUCA1 GM2A GNPTAB GUSB
3 homeostasis/metabolism MP:0005376 10 CTSB CTSD FUCA1 GALNS GNPTAB GNPTG
4 mortality/aging MP:0010768 9.73 CTSB CTSD GNPTAB GUSB IDUA IGF2R
5 renal/urinary system MP:0005367 9.28 CTSB FUCA1 GALNS GNPTAB GUSB IDUA

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 258)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Racepinephrine Approved Phase 4 329-65-7 838
2
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
3
Bupivacaine Approved, Investigational Phase 4 38396-39-3, 2180-92-9 2474
4
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
5
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
6
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
7
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
8
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
9
Desflurane Approved Phase 4 57041-67-5 42113
10
Polidocanol Approved Phase 4 9002-92-0
11
Prilocaine Approved Phase 4 721-50-6 4906
12
Remifentanil Approved Phase 4 132875-61-7 60815
13
Mepivacaine Approved, Vet_approved Phase 4 96-88-8 4062
14
Sodium citrate Approved, Investigational Phase 4 68-04-2
15
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
16
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
17
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
18 Disinfectants Phase 4
19 Epinephryl borate Phase 4
20 Neurotransmitter Agents Phase 4
21 Sympathomimetics Phase 4
22 Vasoconstrictor Agents Phase 4
23 Sclerosing Solutions Phase 4
24 Analgesics Phase 4
25 Hypnotics and Sedatives Phase 4
26 GABA Modulators Phase 4
27 Psychotropic Drugs Phase 4
28 Anesthetics, Intravenous Phase 4
29 Anesthetics, General Phase 4
30 Anti-Anxiety Agents Phase 4
31 Adrenergic beta-Agonists Phase 4
32 Mydriatics Phase 4
33 Narcotics Phase 4
34 Analgesics, Opioid Phase 4
35 Cathartics Phase 4
36 Cola Phase 4
37 Laxatives Phase 4
38 Calcium, Dietary Phase 4
39 Mitogens Phase 4
40 Citrate Phase 4
41 Anticoagulants Phase 4
42 Immunologic Factors Phase 4
43 Anesthetics Phase 4
44 Hormones Phase 4
45 Immunosuppressive Agents Phase 4
46 Anesthetics, Local Phase 4
47 Sodium Channel Blockers Phase 4
48 Anti-Inflammatory Agents Phase 4
49 Hormone Antagonists Phase 4
50 triamcinolone acetonide Phase 4

Interventional clinical trials:

(show top 50) (show all 105)
# 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 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%
3 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
4 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
5 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
6 Placebo Controlled Trial, Testing the Efficacy of Polidocanol Injections as a Treatment of Chronic Achilles Tendinopathy. Completed NCT00377910 Phase 4 Aethoxysclerol
7 Randomized Controlled Trail of Polyethylene Glycol vs Sodium Phosphate for Colonic Cleansing of Colonoscopy Completed NCT03817788 Phase 4 polyethylene glycol;sodium phosphate
8 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
9 Spinale Unilaterale o Blocco Nervoso Periferico Per le Artroscopie di Ginocchio in Day Surgery. Confronto Prospettico Randomizzato Completed NCT02384915 Phase 4 prilocaine;mepivacaine
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 Plasma Rich in Growth Factors Effectiveness for Myofascial Pain Treatment in Masticatory Muscles: a Randomized Controlled Clinical Trial Completed NCT04040309 Phase 4 Lidocaine injection
12 Is Painless ESWL Possible? Analgesic Efficacy of Ultrasound Guided Quadratus Lumborum Block During Extracorporeal Shockwave Lithotripsy Completed NCT03080363 Phase 4 Bupivacaine;Lidocaine
13 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
14 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
15 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
16 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)
17 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
18 Effect of Inferior Alveolar and Gow-Gates Nerve Block Techniques for Symptomatic Mandibular Molars Completed NCT03117491 Phase 3
19 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
20 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
21 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
22 Effect of Preoperative Oral Carbohydrates on Quality of Recovery: Randomized Controlled Trial Completed NCT02555020 Phase 3
23 A Phase III, Open-Label, Single-Arm Study of Tenecteplase for Restoration of Function in Dysfunctional Central Venous Catheters Completed NCT00396318 Phase 3 tenecteplase
24 A Phase III, Open-Label Study of Tenecteplase for Restoration of Function in Dysfunctional Hemodialysis (HD) Catheters Completed NCT00396253 Phase 3 Tenecteplase
25 UARK 98-026, Total Therapy II - A Phase III Study for Newly Diagnosed Multiple Myeloma Evaluating Anti-Angiogenesis With Thalidomide and Post-Transplant Consolidation Chemotherapy Completed NCT00083551 Phase 3 Thalidomide;Ara-C;BCNU;Cisplatin;Cytoxan;Dexamethasone;Doxorubicin;Etoposide;Filgrastim;Recombinant GM-CSF;Interferon-alpha-2b;Melphalan;Vincristine
26 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
27 Dexmedetomidine Versus Clonidine Adjuvants to Levobupivacaine for Transversus Abdominis Plane Block in Pediatric Laparoscopic Orcheopexy: Randomized Double-blind Study Completed NCT03155646 Phase 2, Phase 3 Dexmedetomidine;Clonidine;Levobupivacaine
28 An International, Multicenter, Randomized, Double-blind, Adaptive Placebo-controlled Study of the Efficacy and Safety of a Single Administration of Olokizumab and RPH-104 With Standard Therapy in Patients With Severe SARS-CoV-2 Infection (COVID-19) Completed NCT04380519 Phase 2, Phase 3 Olokizumab 64 mg;Placebo
29 Efficacy and Safety of Convalescent Plasma vs Human Immunoglobulin for the Treatment of COVID-19 Pneumonia: A Randomized Controlled Trial Completed NCT04381858 Phase 3 Plasma from COVID-19 convalescent patient;Human immunoglobulin
30 A Double-blind, Randomized, Placebo-controlled Study to Evaluate the Efficacy and Safety of RPH-104 Treatment in Patients With Idiopathic Recurrent Pericarditis Recruiting NCT04692766 Phase 2, Phase 3 Placebo
31 Does the Use of Pre-operative SSKI Actually Reduce Vascularity and Improve Surgical Outcomes for Total Thyroidectomy in Graves' Disease? Recruiting NCT04080505 Phase 3 SSKI- Potassium Iodide
32 International, Multicenter, Randomized, Single Blind, Placebo-controlled Study of Efficacy and Safety of CITOFLAVIN® in the Acute Period of Head Injury in Adults Active, not recruiting NCT04631484 Phase 3 Cytoflavin ((Inosine + Nicotinamide + Riboflavin + Succinic Acid);Placebo
33 Efficacy of Ondansetron on Vomiting Due to Acute Gastroenteritis in Pediatric During Winter Terminated NCT02028910 Phase 3 Ondansetron
34 A Double Blind, Randomized, Multicenter Phase III Study Comparing 3 Formulations: Dose Fixed Combination of Bronpheniramine and Fenilefrine, Bronpheniramine Isolated and Fenilefrine Isolated, to Evaluate the Efficacy and Safety of the Treatment of the Inflammatory Symptoms of Upper Respiratory Tract, in Children Between 2 and 6 Years Old. Withdrawn NCT00967759 Phase 3 Bronpheniramine and fenilefrine (Decongex Plus);Bronpheniramine isolated;Fenilefrine isolated
35 A Randomized Multi-treatment/Controlled Double-blinded Study to Evaluate the Efficacy of a Naturally-derived Mouthrinse in the Treatment of Gingival Inflammation. Completed NCT00885599 Phase 1, Phase 2 Herbal API;Cepacol;Listerine Antiseptic Mouth Rinse;placebo mouthwash
36 A Randomised Double Blind, Placebo Controlled Study to Evaluate the Efficacy and Safety of Sublingual Immunotherapy With a Depigmented and Polymerized Grass Pollen Extracts in Patients Suffering From Allergic Rhinoconjunctivitis. Completed NCT00550875 Phase 2
37 Belatacept Conversion Trial in Renal Transplantation Completed NCT00402168 Phase 2 Belatacept;Cyclosporine A;Tacrolimus
38 Exploratory Evaluation of a Two-dose Schedule Versus a One-dose Schedule of Menactra® (Meningococcal [Groups A, C, Y and W 135] Polysaccharide Diphtheria Toxoid Conjugate Vaccine) in Children in the US Completed NCT00700635 Phase 2
39 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
40 The Efficacy of Prolotherapy and Platelet Rich Plasma Injections for Lateral Epicondylosis: a Pilot Study Completed NCT01476605 Phase 2
41 A Multicentre, Randomized, Double-blind, Placebo-controlled Study of the Safety and Efficacy of Unifuzol® in Patients With Peripheral Arterial Disease Completed NCT03861416 Phase 2 L-arginine 1.4% 500 ml;L-arginine 1.4% 250 ml + placebo 250 ml;Placebo solution
42 Premedication Efficacy of Ketorolac Infiltration on Post Endodontic Pain Completed NCT02923687 Phase 2 Ketorolac Tromethamine;Placebo
43 Shamrock - Ultrasound/MR Image Fusion Guided Lumbar Plexus Block Completed NCT02718976 Phase 2 Lidocaine-epinephrine added gadoterate meglumine
44 Short-term Effect of 2% Atorvastatin Dentifrice as an Adjunct to Periodontal Therapy: A Randomized Double-blind Clinical Trial. Completed NCT01929135 Phase 2 Medicated 2% atorvastatin dentifrice;Non-medicated dentifrice
45 Pharmaco-economic Cost-effective Prospective Randomized Trial Evaluating the Open Interest Caphosol ® Mouthwashes in the Prevention and Treatment of Severe Oral Mucositis in Patients Receiving High-dose Chemotherapy in Hematology Completed NCT01426295 Phase 2 Bicarbonate de sodium
46 Phase II Study of Cetuximab as Monotherapy and First Line Treatment in Patients With Locally Advanced or Metastatic Squamous Cell Carcinoma of the Skin Expressing EGFR. Completed NCT00240682 Phase 2 cetuximab
47 Multicentre, Randomized, Placebo-controlled, Double-blind, Phase I/IIa Dose-escalation Clinical Study of a Therapeutic Vaccine (VAC-3S) Intended to Confer Protection Against Immunopathological Effects of HIV-1 in Infected Patients Completed NCT01549119 Phase 1, Phase 2
48 Pre-administration of Rabbit Antithymocyte Globulin to Optimize Donor T-Cell Engraftment Following Reduced Intensity Allogeneic Peripheral Blood Progenitor Cell Transplantation From Matched-Related Donors Completed NCT00787761 Phase 2 busulfan;cyclophosphamide;fludarabine phosphate;methotrexate;tacrolimus
49 Ultrasound Guided Transversus Abdominis Plane Block Using Dexmedetomidine and Bupivacaine in Children Undergoing Laparoscopic Orcheopexy: Randomized Controlled Trial Completed NCT03156296 Phase 2 Dexmedetomidine;Bupivacaine
50 A Single Center, Open Label, Stepwise, Dose Profiling Study to Evaluate the Efficacy and Safety of Four Dose Regimens of Inhaled TPI ASM8 in Patients With Allergic Asthma Completed NCT00822861 Phase 2 TPI ASM8;TPI ASM8;TPI ASM8;TPI ASM8

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, Liver, Skin, Brain, Dorsal Root Ganglion, Bone Marrow

Publications for Mucolipidosis Ii Alpha/beta

Articles related to Mucolipidosis Ii Alpha/beta:

(show top 50) (show all 408)
# 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. 54 61 57 6
18190596 2008
2
Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity. 61 57 6
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. 54 6 57
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. 54 6 57
16116615 2005
5
Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation. 6 57
19197337 2009
6
Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase. 57 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. 6 61 54
16465621 2006
8
When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients. 57 54
16630736 2006
9
Prenatal mucolipidosis type II (I-cell disease) can present as Pacman dysplasia. 57 61
15887289 2005
10
Inheritance, biochemical abnormalities, and clinical features of feline mucolipidosis II: the first animal model of human I-cell disease. 61 57
14557388 2003
11
Spontaneous mucolipidosis in a cat: an animal model of human I-cell disease. 57 61
8826001 1996
12
Inter- and intrafamilial variability in mucolipidosis II (I-cell disease). 57 61
7628121 1995
13
First trimester prenatal evaluation for I-cell disease by N-acetyl-glucosamine 1-phosphotransferase assay. 61 57
2830069 1988
14
Altered molecular size of N-acetylglucosamine 1-phosphotransferase in I-cell disease and pseudo-Hurler polydystrophy. 57 61
2829837 1987
15
I-cell disease: clinical studies of 21 Japanese cases. 57 61
2998652 1985
16
Mucolipidosis II and III. The genetic relationships between two disorders of lysosomal enzyme biosynthesis. 57 61
6309902 1983
17
Mucolipidosis II. The clinical, radiological and biochemical features in three cases. 61 57
6137302 1983
18
Heterogeneity in mucolipidosis II (I-cell disease). 61 57
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 57
6289658 1982
20
Two clonal cell populations (mosaicism) in a 46,XY male with mucolipidosis II (I-cell disease)--an autosomal recessive disorder. 61 57
6125101 1982
21
Genetic heterogeneity of I-cell disease is demonstrated by complementation of lysosomal enzyme processing mutants. 57 61
6287841 1982
22
The mucolipidoses: identification by abnormal electrophoretic patterns of lysosomal hydrolases. 61 57
7282783 1981
23
Correction of I-cell defect by hybridization with lysosomal enzyme deficient human fibroblasts. 61 57
6772024 1980
24
Neuraminidase in cultured fibroblasts and leucocytes of homozygotes and heterozygotes for the mucolipidosis II gene (I-cell disease). 61 57
517575 1979
25
Serum hexosaminidase activity in I-cell disease carriers. 57 61
852874 1977
26
Deficit in neuraminidase associated with mucolipidosis II (I-cell disease). 57 61
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. 57 61
971412 1976
28
Increased levels of sialic acid associated with a sialidase deficiency in I-cell disease (mucolipidosis II) fibroblasts. 61 57
61029 1976
29
Abnormal lysosomal hydrolases excreted by cultured fibroblasts in I-cell disease (mucolipidosis II). 57 61
1201084 1975
30
I-cell disease, mucolipidosis II. Pathological, histochemical, ultrastructural and biochemical observations in four cases. 61 57
4353613 1973
31
A hypothesis for I-cell disease: defective hydrolases that do not enter lysosomes. 57 61
4345092 1972
32
I-cell disease: biochemical studies. 61 57
4346288 1972
33
Ultrastructure of cultured fibroblasts in I-cell disease. 61 57
5567403 1971
34
A novel mouse model of a patient mucolipidosis II mutation recapitulates disease pathology. 57
25107912 2014
35
Molecular order in mucolipidosis II and III nomenclature. 57
18203164 2008
36
Distinguishing Pacman dysplasia from mucolipidosis II: comment on Saul et al. [2005]. 57
15887286 2005
37
Pacman dysplasia: a lethal skeletal dysplasia with variable radiographic features. 57
12709756 2003
38
Genetic defects of intracellular-membrane transport. 57
11027745 2000
39
Pacman dysplasia: report of two affected sibs. 57
9600734 1998
40
Mucolipidosis type II in a domestic shorthair cat. 57
8887204 1996
41
Hereditary disorders in Saguenay-Lac-St-Jean (Quebec, Canada). 57
1937486 1991
42
Thyroglobulin, the major and obligatory exportable protein of thyroid follicle cells, carries the lysosomal recognition marker mannose-6-phosphate. 57
3582367 1987
43
Trafficking of lysosomal enzymes in normal and disease states. 57
3003148 1986
44
Identification and characterization of cells deficient in the mannose 6-phosphate receptor: evidence for an alternate pathway for lysosomal enzyme targeting. 57
6298775 1983
45
Mucolipidosis II: unusual presentation with a congenital angulated fracture. 57
7105472 1982
46
The phosphomannosyl recognition system for intracellular and intercellular transport of lysosomal enzymes. 57
6279685 1982
47
Fusion with enucleated fibroblasts corrects "I-cell" defect. 57
6769689 1980
48
Hypersialyloligosacchariduria in mucolipidoses: a method for diagnosis. 57
657539 1978
49
Correction of human mucolipidosis II enzyme abnormalities in somatic cell hybrids. 57
562989 1977
50
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

Variations for Mucolipidosis Ii Alpha/beta

ClinVar genetic disease variations for Mucolipidosis Ii Alpha/beta:

6 (show top 50) (show all 508)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GNPTAB NM_024312.5(GNPTAB):c.310C>T (p.Gln104Ter) SNV Pathogenic 2763 rs137852896 12:102183729-102183729 12:101789951-101789951
2 GNPTAB NM_024312.5(GNPTAB):c.3565C>T (p.Arg1189Ter) SNV Pathogenic 2764 rs137852897 12:102147187-102147187 12:101753409-101753409
3 GNPTAB NM_024312.5(GNPTAB):c.118-2A>G SNV Pathogenic 38412 rs281865023 12:102190542-102190542 12:101796764-101796764
4 GNPTAB NM_024312.5(GNPTAB):c.1001G>T (p.Arg334Leu) SNV Pathogenic 39019 rs281864970 12:102164296-102164296 12:101770518-101770518
5 GNPTAB NM_024312.5(GNPTAB):c.1090C>T (p.Arg364Ter) SNV Pathogenic 39021 rs200646278 12:102164207-102164207 12:101770429-101770429
6 GNPTAB NM_024312.4(GNPTAB):c.118-?_203+?dup86 Duplication Pathogenic 39023 12:102190455-102190540 12:101796677-101796762
7 GNPTAB NM_024312.5(GNPTAB):c.1191_1194dup (p.Ser399fs) Duplication Pathogenic 39024 rs281864971 12:102163888-102163889 12:101770110-101770111
8 GNPTAB NM_024312.5(GNPTAB):c.1206dup (p.Ile403fs) Duplication Pathogenic 39025 rs281864972 12:102163876-102163877 12:101770098-101770099
9 GNPTAB NM_024312.5(GNPTAB):c.121del (p.Val41fs) Deletion Pathogenic 39027 rs281864948 12:102190537-102190537 12:101796759-101796759
10 GNPTAB NM_024312.5(GNPTAB):c.1331dup (p.Ser445fs) Duplication Pathogenic 39030 rs281864976 12:102161891-102161892 12:101768113-101768114
11 GNPTAB NM_024312.5(GNPTAB):c.136C>T (p.Arg46Ter) SNV Pathogenic 39031 rs78347057 12:102190522-102190522 12:101796744-101796744
12 GNPTAB NM_024312.5(GNPTAB):c.1381T>G (p.Cys461Gly) SNV Pathogenic 39032 rs281864977 12:102161842-102161842 12:101768064-101768064
13 GNPTAB NM_024312.5(GNPTAB):c.1399del (p.Asp467fs) Deletion Pathogenic 39034 rs397507448 12:102161824-102161824 12:101768046-101768046
14 GNPTAB NM_024312.5(GNPTAB):c.1519C>T (p.Gln507Ter) SNV Pathogenic 39036 rs281864981 12:102159962-102159962 12:101766184-101766184
15 GNPTAB NM_024312.5(GNPTAB):c.3061C>T (p.Gln1021Ter) SNV Pathogenic 39064 rs281865008 12:102154979-102154979 12:101761201-101761201
16 GNPTAB NM_024312.5(GNPTAB):c.3091C>T (p.Arg1031Ter) SNV Pathogenic 39065 rs281865009 12:102154949-102154949 12:101761171-101761171
17 GNPTAB NM_024312.5(GNPTAB):c.3160C>G (p.Leu1054Val) SNV Pathogenic 39066 rs281865010 12:102153897-102153897 12:101760119-101760119
18 GNPTAB NM_024312.5(GNPTAB):c.3232del (p.Tyr1078fs) Deletion Pathogenic 39067 rs281865011 12:102153825-102153825 12:101760047-101760047
19 GNPTAB NM_024312.5(GNPTAB):c.3249+1G>C SNV Pathogenic 39068 rs281865012 12:102153807-102153807 12:101760029-101760029
20 GNPTAB NM_024312.5(GNPTAB):c.3310del (p.Ala1104fs) Deletion Pathogenic 39069 rs281865013 12:102151375-102151375 12:101757597-101757597
21 GNPTAB NM_024312.5(GNPTAB):c.3330dup (p.Tyr1111fs) Duplication Pathogenic 39070 rs281865014 12:102151354-102151355 12:101757576-101757577
22 GNPTAB NM_024312.5(GNPTAB):c.3335+6T>G SNV Pathogenic 2773 rs34788341 12:102151344-102151344 12:101757566-101757566
23 GNPTAB NM_024312.5(GNPTAB):c.3410T>A (p.Leu1137Ter) SNV Pathogenic 39071 rs142065232 12:102151014-102151014 12:101757236-101757236
24 GNPTAB NM_024312.5(GNPTAB):c.3428dup (p.Asn1143fs) Duplication Pathogenic 39072 rs281865017 12:102150995-102150996 12:101757217-101757218
25 GNPTAB NM_024312.5(GNPTAB):c.342_343CA[1] (p.Thr115fs) Microsatellite Pathogenic 39073 rs281864954 12:102182346-102182347 12:101788568-101788569
26 GNPTAB NM_024312.5(GNPTAB):c.3487_3490del (p.Gln1162_Thr1163insTer) Deletion Pathogenic 39076 rs281865020 12:102147262-102147265 12:101753484-101753487
27 GNPTAB NM_024312.5(GNPTAB):c.3523_3529del (p.Met1175fs) Deletion Pathogenic 39077 rs281865021 12:102147223-102147229 12:101753445-101753451
28 GNPTAB NM_024312.5(GNPTAB):c.3613C>T (p.Arg1205Ter) SNV Pathogenic 38429 rs35333334 12:102142959-102142959 12:101749181-101749181
29 GNPTAB NM_024312.5(GNPTAB):c.3741_3744del (p.Glu1248fs) Deletion Pathogenic 39078 rs281865022 12:102140969-102140972 12:101747191-101747194
30 GNPTAB NM_024312.5(GNPTAB):c.441del (p.Asn148fs) Deletion Pathogenic 39079 rs281864955 12:102179920-102179920 12:101786142-101786142
31 GNPTAB NM_024312.5(GNPTAB):c.625_629del (p.Arg209fs) Deletion Pathogenic 39084 rs281864961 12:102174342-102174346 12:101780564-101780568
32 GNPTAB NM_024312.5(GNPTAB):c.637-1G>A SNV Pathogenic 39085 rs281864962 12:102174065-102174065 12:101780287-101780287
33 GNPTAB NM_024312.5(GNPTAB):c.648_651del (p.Glu217fs) Deletion Pathogenic 39086 rs281864963 12:102174050-102174053 12:101780272-101780275
34 GNPTAB NM_024312.5(GNPTAB):c.749dup (p.Asn250fs) Duplication Pathogenic 39087 rs281864964 12:102173951-102173952 12:101780173-101780174
35 GNPTAB NM_024312.4:c.750+3A>C SNV Pathogenic 39088
36 GNPTAB NM_024312.5(GNPTAB):c.755_759del (p.Leu251_Ser252insTer) Deletion Pathogenic 39089 rs281864965 12:102173942-102173946 12:101780164-101780168
37 GNPTAB NM_024312.5(GNPTAB):c.857dup (p.Asn287fs) Duplication Pathogenic 39090 rs281864966 12:102164849-102164850 12:101771071-101771072
38 GNPTAB NM_024312.5(GNPTAB):c.914dup (p.Asp305fs) Duplication Pathogenic 39091 rs281864967 12:102164792-102164793 12:101771014-101771015
39 GNPTAB NM_024312.5(GNPTAB):c.940C>T (p.Gln314Ter) SNV Pathogenic 39092 rs281864968 12:102164357-102164357 12:101770579-101770579
40 GNPTAB NM_024312.5(GNPTAB):c.2864C>T (p.Ala955Val) SNV Pathogenic 39093 rs138390866 12:102155393-102155393 12:101761615-101761615
41 GNPTAB NM_024312.5(GNPTAB):c.3392C>T (p.Ser1131Phe) SNV Pathogenic 39094 rs281865016 12:102151032-102151032 12:101757254-101757254
42 GNPTAB NM_024312.5(GNPTAB):c.614A>C (p.Gln205Pro) SNV Pathogenic 39095 rs281864959 12:102174357-102174357 12:101780579-101780579
43 GNPTAB NM_024312.5(GNPTAB):c.1402T>A (p.Cys468Ser) SNV Pathogenic 41253 rs281864979 12:102161821-102161821 12:101768043-101768043
44 GNPTAB NM_024312.5(GNPTAB):c.2189del (p.Leu730fs) Deletion Pathogenic 41254 rs281864988 12:102158506-102158506 12:101764728-101764728
45 GNPTAB NM_024312.5(GNPTAB):c.2591_2592insG (p.Asn865fs) Insertion Pathogenic 41255 rs281864997 12:102158103-102158104 12:101764325-101764326
46 GNPTAB NM_024312.5(GNPTAB):c.3053A>G (p.Asp1018Gly) SNV Pathogenic 41256 rs281865007 12:102154987-102154987 12:101761209-101761209
47 GNPTAB NM_024312.5(GNPTAB):c.3002T>C (p.Leu1001Pro) SNV Pathogenic 39063 rs281865006 12:102155038-102155038 12:101761260-101761260
48 GNPTAB NM_024312.5(GNPTAB):c.2693dup (p.Tyr899fs) Duplication Pathogenic 39057 rs281864999 12:102158001-102158002 12:101764223-101764224
49 GNPTAB NM_024312.5(GNPTAB):c.2664C>G (p.Tyr888Ter) SNV Pathogenic 39056 rs281864998 12:102158031-102158031 12:101764253-101764253
50 GNPTAB NM_024312.5(GNPTAB):c.2544del (p.Glu849fs) Deletion Pathogenic 39054 rs281864995 12:102158151-102158151 12:101764373-101764373

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
11.86 SMPD1 PSAP GM2A ARSH
2 11.61 SORT1 SMPD1 PSAP NAGPA M6PR IGF2R
3 10.62 CTSD CTSB
4
Show member pathways
10.43 IDUA GUSB GALNS

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 9.97 SMPD1 PSAP GUSB GNPTG GM2A GALNS
2 Golgi apparatus GO:0005794 9.91 SORT1 NAGPA MBTPS1 M6PR IGF2R GNPTG
3 extracellular exosome GO:0070062 9.9 SMPD1 PSAP IGF2R IDUA GUSB GNPTG
4 lysosomal membrane GO:0005765 9.73 SORT1 PSAP M6PR CTSD
5 late endosome GO:0005770 9.65 PSAP M6PR IGF2R
6 ficolin-1-rich granule lumen GO:1904813 9.63 GUSB CTSD CTSB
7 azurophil granule lumen GO:0035578 9.56 GUSB GM2A GALNS FUCA1
8 lysosomal lumen GO:0043202 9.56 SMPD1 PSAP IDUA GUSB GM2A GALNS
9 trans-Golgi network transport vesicle GO:0030140 9.4 SORT1 IGF2R
10 lysosome GO:0005764 9.36 SORT1 SMPD1 PSAP M6PR IDUA GUSB

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

# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.76 NAGPA IDUA GUSB FUCA1
2 lysosome organization GO:0007040 9.61 NAGPA MBTPS1 GNPTAB
3 glycosphingolipid metabolic process GO:0006687 9.58 SMPD1 PSAP GM2A
4 metabolic process GO:0008152 9.55 SMPD1 OGA IDUA GUSB FUCA1
5 glycosaminoglycan catabolic process GO:0006027 9.54 IDUA GUSB FUCA1
6 lysosomal transport GO:0007041 9.5 PSAP M6PR IGF2R
7 carbohydrate phosphorylation GO:0046835 9.48 GNPTG GNPTAB
8 protein targeting to lysosome GO:0006622 9.43 SORT1 NAGPA M6PR
9 neutrophil degranulation GO:0043312 9.23 PSAP IGF2R GUSB GM2A GALNS FUCA1
10 secretion of lysosomal enzymes GO:0033299 9.13 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 GO:0016787 9.44 SMPD1 OGA NAGPA MBTPS1 IDUA GUSB
2 sulfuric ester hydrolase activity GO:0008484 9.37 GALNS ARSH
3 hydrolase activity, acting on glycosyl bonds GO:0016798 9.35 SMPD1 OGA IDUA GUSB FUCA1
4 retromer complex binding GO:1905394 9.33 SORT1 M6PR IGF2R
5 arylsulfatase activity GO:0004065 9.32 GALNS ARSH
6 UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity GO:0003976 9.26 GNPTG GNPTAB

Sources for Mucolipidosis Ii Alpha/beta

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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