MLII
MCID: MCL062
MIFTS: 67

Mucolipidosis Ii Alpha/beta (MLII)

Categories: Blood diseases, Bone 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 57 24 25 13
I-Cell Disease 57 24 25 59 74 55
Inclusion Cell Disease 24 53 25 74
Mucolipidosis Ii 57 24 25 37
I Cell Disease 75 53 29 6
Mucolipidosis Type Ii 25 59 74
Icd 57 53 74
Ml Ii Alpha/beta 57 24
Mucolipidosis 2 53 72
Ml Ii 57 24
Mlii 25 74
Deficiency of N-Acetylglucosamine-1-Phosphotransferase 29
N-Acetylglucosamine 1-Phosphotransferase Deficiency 59
N-Acetylglucosamine 1phosphotransferase Deficiency 53
Mucolipidosis, Type Ii, Alpha/beta 40
Mucolipidosis Type Ii Alpha/beta 59
Mucolipidosis Ii; Ml Ii 57
Type Ii Mucolipidosis 72
I-Cell Disease; Icd 57
Ml Disorder Type 2 53
Leroy Disease 53
Gnpta 53
Ml 2 53
Ml2 17

Characteristics:

Orphanet epidemiological data:

59
mucolipidosis type ii
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe),<1/1000000 (Europe),1-9/1000000 (Portugal),1-9/1000000 (Netherlands),1-9/1000000 (Japan),1-9/100000 (Ireland),1-5/10000,<1/1000000 (Sweden); Age of onset: Neonatal; Age of death: infantile,stillbirth;

OMIM:

57
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:

32
mucolipidosis ii alpha/beta:
Inheritance autosomal recessive inheritance
Clinical modifier death in childhood


Classifications:



External Ids:

OMIM 57 252500
KEGG 37 H00143
MESH via Orphanet 45 C538602
ICD10 via Orphanet 34 E77.0
UMLS via Orphanet 73 C0020725 C2931894
Orphanet 59 ORPHA576
UMLS 72 C0020725 C2931894

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 inclusion-cell disease and mucopolysaccharidoses. 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 Iodine and Povidone have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and skin, and related phenotypes are failure to thrive and coarse facial features

NIH Rare Diseases : 53 Mucolipidosis II (ML II), also known as I cell disease, is a rare and progressive metabolic disorder that involves our body's ability to break down certain fats (mucolipids). Symptoms typically present in infancy or early childhood and include weak muscle tone (hypotonia), developmental delay, limited mobility, clubfeet, thickened skin, and short hands and fingers. ML II can also cause heart valve abnormalities and repeated respiratory infections. This reduces the individual's ability to breathe effectively and typically results in death by early adolescence. ML II is caused by mutation in the GNPTAB gene, and is inherited in an autosomal recessive manner. ML II is diagnosed by testing the blood or urine for high levels of mucolipids, and the diagnosis can be confirmed by genetic testing. Treatment is based on relieving the signs and symptoms in each person, but early research into possible genetic therapies is promising.

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)

KEGG : 37
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 : 74 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 : 75 Inclusion-cell (I-cell) disease, also referred to as mucolipidosis II (ML II), is part of the lysosomal... more...

GeneReviews: NBK1828

Related Diseases for Mucolipidosis Ii Alpha/beta

Diseases in the Mucolipidosis 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 377)
# Related Disease Score Top Affiliating Genes
1 inclusion-cell disease 32.3 PSAP IGF2R GNPTG GNPTAB
2 mucopolysaccharidoses 30.8 GUSB ARSH
3 neuraminidase deficiency 30.6 PSAP NEU1
4 glycoproteinosis 30.5 PSAP NEU1
5 stuttering 30.5 GNPTG GNPTAB
6 lysosomal storage disease 30.3 SMPD1 NEU1 M6PR GUSB FUCA1
7 mucopolysaccharidosis-plus syndrome 30.2 GUSB ARSH
8 mucolipidosis iii alpha/beta 30.2 GUSB GNPTG GNPTAB FUCA1
9 niemann-pick disease 29.7 SMPD1 PSAP
10 tay-sachs disease 29.3 PSAP NEU1 GM2A
11 mucolipidosis iii gamma 11.7
12 mucolipidoses 11.6
13 cardiac arrest 11.6
14 brugada syndrome 11.5
15 catecholaminergic polymorphic ventricular tachycardia 11.5
16 short qt syndrome 11.5
17 personality disorder 11.5
18 impulse control disorder 11.5
19 reactive arthritis 11.3
20 carcinoid tumors, intestinal 11.1
21 cardiomyopathy, familial hypertrophic, 1 11.1
22 leukemia, acute myeloid 11.1
23 meningioma, radiation-induced 11.1
24 meningioma, familial 11.1
25 myofibrillar myopathy 11.1
26 spinal meningioma 11.1
27 hypertensive heart disease 11.1
28 sex cord-gonadal stromal tumor 11.1
29 adenofibroma 11.1
30 allergic contact dermatitis 11.1
31 mood disorder 11.1
32 cutaneous fibrous histiocytoma 11.1
33 leiomyomatosis 11.1
34 carcinoid syndrome 11.1
35 cardiac conduction defect 10.9
36 ventricular fibrillation, paroxysmal familial, 1 10.8
37 dilated cardiomyopathy 10.6
38 syncope 10.6
39 heart disease 10.5
40 articulation disorder 10.5 GNPTG GNPTAB
41 hyperparathyroidism 10.4
42 speech disorder 10.4 GNPTG GNPTAB
43 mucolipidosis 10.4
44 arrhythmogenic right ventricular cardiomyopathy 10.4
45 long qt syndrome 10.4
46 rickets 10.4
47 pneumothorax 10.4
48 mucolipidosis iv 10.4 PSAP GM2A
49 progressive familial heart block, type ia 10.3
50 hyperlipoproteinemia, type iii 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:

59 32 (show top 50) (show all 76)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
2 coarse facial features 59 32 hallmark (90%) Very frequent (99-80%) HP:0000280
3 splenomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001744
4 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
5 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
6 mucopolysacchariduria 59 32 hallmark (90%) Very frequent (99-80%) HP:0008155
7 hernia 59 32 hallmark (90%) Very frequent (99-80%) HP:0100790
8 abnormality of the thorax 59 32 hallmark (90%) Very frequent (99-80%) HP:0000765
9 generalized hirsutism 59 32 hallmark (90%) Very frequent (99-80%) HP:0002230
10 short long bone 59 32 hallmark (90%) Very frequent (99-80%) HP:0003026
11 severe global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0011344
12 abnormality of nervous system morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0012639
13 corneal erosion 59 32 hallmark (90%) Very frequent (99-80%) HP:0200020
14 depressed nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0005280
15 anteverted nares 59 32 frequent (33%) Frequent (79-30%) HP:0000463
16 long philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000343
17 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
18 thin skin 59 32 frequent (33%) Frequent (79-30%) HP:0000963
19 lack of skin elasticity 59 32 frequent (33%) Frequent (79-30%) HP:0100679
20 kyphosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002808
21 recurrent respiratory infections 59 32 occasional (7.5%) Occasional (29-5%) HP:0002205
22 weight loss 59 32 occasional (7.5%) Occasional (29-5%) HP:0001824
23 abnormal heart valve morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0001654
24 opacification of the corneal stroma 59 32 occasional (7.5%) Occasional (29-5%) HP:0007759
25 broad alveolar ridges 59 32 occasional (7.5%) Occasional (29-5%) HP:0000187
26 megalocornea 59 32 occasional (7.5%) Occasional (29-5%) HP:0000485
27 cavernous hemangioma 59 32 occasional (7.5%) Occasional (29-5%) HP:0001048
28 corneal dystrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001131
29 carpal bone hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001498
30 congestive heart failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001635
31 progressive alveolar ridge hypertropy 59 32 occasional (7.5%) Occasional (29-5%) HP:0009092
32 osteopenia 32 HP:0000938
33 inguinal hernia 32 HP:0000023
34 macroglossia 32 HP:0000158
35 global developmental delay 32 HP:0001263
36 umbilical hernia 32 HP:0001537
37 thickened calvaria 32 HP:0002684
38 neonatal hypotonia 32 HP:0001319
39 cardiomegaly 32 HP:0001640
40 hypertrophic cardiomyopathy 32 HP:0001639
41 narrow forehead 32 HP:0000341
42 ovoid vertebral bodies 32 HP:0003300
43 pathologic fracture 32 HP:0002756
44 wide intermamillary distance 32 HP:0006610
45 recurrent otitis media 32 HP:0000403
46 palpebral edema 32 HP:0100540
47 talipes equinovarus 32 HP:0001762
48 hip dislocation 32 HP:0002827
49 recurrent pneumonia 32 HP:0006532
50 split hand 32 HP:0001171

Symptoms via clinical synopsis from OMIM:

57
Genitourinary External Genitalia Male:
inguinal hernia

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

Abdomen External Features:
umbilical hernia
diastasis recti
abdominal protuberance

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

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

Skeletal Pelvis:
hip dislocation
flared iliac wings
horizontal acetabular roofs
supra-acetabular constriction
irregular contours of pubis and ischium

Voice:
hoarse voice

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 Mouth:
macroglossia
progressive alveolar ridge hypertrophy

Abdomen Liver:
hepatomegaly

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

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

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.07 CTSB FUCA1 GM2A GNPTAB GUSB IGF2R
2 cellular MP:0005384 9.97 CTSB FUCA1 GNPTAB GUSB IGF2R M6PR
3 growth/size/body region MP:0005378 9.86 CTSB GNPTAB GUSB IGF2R M6PR NEU1
4 homeostasis/metabolism MP:0005376 9.85 CTSB FUCA1 GNPTAB GNPTG GUSB IGF2R
5 nervous system MP:0003631 9.56 CTSB FUCA1 GM2A GNPTAB IGF2R NEU1
6 renal/urinary system MP:0005367 9.23 CTSB FUCA1 GNPTAB GUSB IGF2R M6PR

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 384)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iodine Approved, Investigational Phase 4 7553-56-2 807
2
Povidone Approved Phase 4 9003-39-8
3
Povidone-iodine Approved Phase 4 25655-41-8
4
Ofloxacin Approved Phase 4 82419-36-1 4583
5
Levofloxacin Approved, Investigational Phase 4 100986-85-4 149096
6
Azithromycin Approved Phase 4 83905-01-5 447043 55185
7
Histamine Approved, Investigational Phase 4 51-45-6 774
8
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
9
Prilocaine Approved Phase 4 721-50-6 4906
10
Mepivacaine Approved, Vet_approved Phase 4 96-88-8 4062
11
Polidocanol Approved Phase 4 9002-92-0
12
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
13
Desflurane Approved Phase 4 57041-67-5 42113
14
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
15
Thrombin Approved, Investigational Phase 4
16
Darunavir Approved Phase 4 206361-99-1, 635728-49-3 213039
17
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
18
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
19
Emtricitabine Approved, Investigational Phase 4 143491-57-0 60877
20
Dimenhydrinate Approved Phase 4 523-87-5 441281
21
Ganciclovir Approved, Investigational Phase 4 82410-32-0 3454
22
Foscarnet Approved Phase 4 63585-09-1, 4428-95-9 3415
23
Valganciclovir Approved, Investigational Phase 4 175865-60-8 64147
24
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
25
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
26
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
27
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
28
Sodium citrate Approved, Investigational Phase 4 68-04-2
29
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
30
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
31
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
32
Tenofovir Experimental, Investigational Phase 4 147127-20-6 464205
33
Phosphonoacetic Acid Experimental Phase 4 4408-78-0 546
34 Anti-Infective Agents, Local Phase 4
35 Chlorhexidine gluconate Phase 4
36 Disinfectants Phase 4
37 Plasma Substitutes Phase 4
38 cadexomer iodine Phase 4
39 Blood Substitutes Phase 4
40 Cytochrome P-450 Enzyme Inhibitors Phase 4
41 Topoisomerase Inhibitors Phase 4
42 Fluoroquinolones Phase 4
43 Renal Agents Phase 4
44 Anti-Infective Agents, Urinary Phase 4
45 Cytochrome P-450 CYP1A2 Inhibitors Phase 4
46 Vaccines Phase 4
47 Anti-Retroviral Agents Phase 4
48 Antiviral Agents Phase 4
49 Immunoglobulin G Phase 4
50 Rho(D) Immune Globulin Phase 4

Interventional clinical trials:

(show top 50) (show all 207)
# 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 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
7 Is Painless ESWL Possible? Analgesic Efficacy of Ultrasound Guided Quadratus Lumborum Block During Extracorporeal Shockwave Lithotripsy Completed NCT03080363 Phase 4 Bupivacaine;Lidocaine
8 Spinale Unilaterale o Blocco Nervoso Periferico Per le Artroscopie di Ginocchio in Day Surgery. Confronto Prospettico Randomizzato Completed NCT02384915 Phase 4 prilocaine;mepivacaine
9 Placebo Controlled Trial, Testing the Efficacy of Polidocanol Injections as a Treatment of Chronic Achilles Tendinopathy. Completed NCT00377910 Phase 4 Aethoxysclerol
10 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
11 Randomized Controlled Trial Comparing Residual Kidney Function in Patients Undergoing Three or Four Exchanges CAPD Completed NCT01637792 Phase 4
12 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
13 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
14 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
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 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)
17 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
18 Can Dexmedetomidine For Procedural Sedation In Knee Arthroplasty Reduce Postoperative Pain? A Randomized Control Study Completed NCT02026141 Phase 4 Dexmedetomidine;Normal Saline Placebo
19 A Prospective Randomize Study: Prevention of Nausea and Vomiting in Plastic Surgery Completed NCT02382146 Phase 4 dexamethasone ondansetron;Dexamethasone dimenhidrinate
20 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
21 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
22 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
23 Effects of Catheter Location on Postoperative Analgesia for Continuous Adductor Canal and Popliteal-Sciatic Nerve Blocks Completed NCT02523235 Phase 4 ropivacaine 0.2%
24 Do Cervical Interlaminar Epidural Steroid Injections With Low-dose Lidocaine Cause Transient Objective Upper Extremity Weakness? A Prospective Randomized Recruiting NCT03382925 Phase 4 Lidocaine;Triamcinolone Acetonide;Normal saline
25 Randomized Controlled Trail of Polyethylene Glycol vs Sodium Phosphate for Colonic Cleansing of Colonoscopy Recruiting NCT03817788 Phase 4 polyethylene glycol;sodium phosphate
26 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
27 Comparison of Plasma Concentration And Efficacy Of Liposomal Bupivacaine And Plain Bupivacaine After Intercostal Injections For Pain Management After Thoracoscopy Recruiting NCT03737292 Phase 4 Exparel;Bupivacaine
28 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
29 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 Active, not recruiting NCT03734159 Phase 4 Ropivacaine;sodium chloride 0.9%
30 Plasma Rich in Growth Factors Effectiveness for Myofascial Pain Treatment in Masticatory Muscles: a Randomized Controlled Clinical Trial Active, not recruiting NCT04040309 Phase 4 Lidocaine injection
31 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
32 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
33 Proteomics and Stem Cell Therapy as a New Vascularization Strategy Withdrawn NCT02408991 Phase 4 Neupogen
34 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
35 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
36 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
37 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)
38 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
39 Effect of Inferior Alveolar and Gow-Gates Nerve Block Techniques for Symptomatic Mandibular Molars Completed NCT03117491 Phase 3
40 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
41 Effect of Preoperative Oral Carbohydrates on Quality of Recovery: Randomized Controlled Trial Completed NCT02555020 Phase 3
42 A Phase III, Open-Label Study of Tenecteplase for Restoration of Function in Dysfunctional Hemodialysis (HD) Catheters Completed NCT00396253 Phase 3 Tenecteplase
43 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
44 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
45 Dexamethasone Versus Placebo in Optimizing the Postoperative Period After Laparoscopic Inguinal Hernia Repair Completed NCT01170780 Phase 3 Dexamethasone;Saline
46 A Phase III, Open-Label, Single-Arm Study of Tenecteplase for Restoration of Function in Dysfunctional Central Venous Catheters Completed NCT00396318 Phase 3 tenecteplase
47 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
48 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
49 House Dust Mite Injection Immunotherapy: a Double-blind, Placebo Controlled Study in Elderly Patients With Allergic Rhinitis. Completed NCT03209245 Phase 3
50 Multicenter, International, Prospective, Phase III, Randomized, Superiority Trial Comparing Two Maintenance Strategies With Mono or Bi-therapy of Protease Inhibitors With or Without Lamivudine in Virologically Suppressed HIV Patients on Second Line Antiretroviral Treatment Over a Period of 96 Weeks in Africa (Dakar, Bobo Dioulasso, Yaounde) Completed NCT01905059 Phase 3 monoPI - boosted lopinavir or boosted darunavir;bi therapy - (boosted lopinavir or boosted darunavir) + lamivudine

Search NIH Clinical Center for Mucolipidosis Ii Alpha/beta

Genetic Tests for Mucolipidosis Ii Alpha/beta

Genetic tests related to Mucolipidosis Ii Alpha/beta:

# Genetic test Affiliating Genes
1 I Cell Disease 29 GNPTAB
2 Deficiency of N-Acetylglucosamine-1-Phosphotransferase 29

Anatomical Context for Mucolipidosis Ii Alpha/beta

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

41
Heart, 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 419)
# 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. 9 38 4 8 71
18190596 2008
2
Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations. 9 4 8 71
19659762 2009
3
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. 9 4 8 71
16116615 2005
4
Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation. 4 8 71
19197337 2009
5
Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase. 4 8 71
16200072 2005
6
Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity. 38 8 71
20880125 2011
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. 9 38 4 71
16465621 2006
8
When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients. 9 4 8
16630736 2006
9
Prenatal mucolipidosis type II (I-cell disease) can present as Pacman dysplasia. 38 4 8
15887289 2005
10
I-cell disease: clinical studies of 21 Japanese cases. 38 4 8
2998652 1985
11
Molecular order in mucolipidosis II and III nomenclature. 4 8
18203164 2008
12
Pacman dysplasia: a lethal skeletal dysplasia with variable radiographic features. 4 8
12709756 2003
13
Pacman dysplasia: report of two affected sibs. 4 8
9600734 1998
14
Inheritance, biochemical abnormalities, and clinical features of feline mucolipidosis II: the first animal model of human I-cell disease. 38 8
14557388 2003
15
Spontaneous mucolipidosis in a cat: an animal model of human I-cell disease. 38 8
8826001 1996
16
Inter- and intrafamilial variability in mucolipidosis II (I-cell disease). 38 8
7628121 1995
17
First trimester prenatal evaluation for I-cell disease by N-acetyl-glucosamine 1-phosphotransferase assay. 38 8
2830069 1988
18
Altered molecular size of N-acetylglucosamine 1-phosphotransferase in I-cell disease and pseudo-Hurler polydystrophy. 38 8
2829837 1987
19
Mucolipidosis II and III. The genetic relationships between two disorders of lysosomal enzyme biosynthesis. 38 8
6309902 1983
20
Mucolipidosis II. The clinical, radiological and biochemical features in three cases. 38 8
6137302 1983
21
Heterogeneity in mucolipidosis II (I-cell disease). 38 8
6839528 1983
22
Demonstration of the heterozygous state for I-cell disease and pseudo-Hurler polydystrophy by assay of N-acetylglucosaminylphosphotransferase in white blood cells and fibroblasts. 38 8
6289658 1982
23
Two clonal cell populations (mosaicism) in a 46,XY male with mucolipidosis II (I-cell disease)--an autosomal recessive disorder. 38 8
6125101 1982
24
Genetic heterogeneity of I-cell disease is demonstrated by complementation of lysosomal enzyme processing mutants. 38 8
6287841 1982
25
The mucolipidoses: identification by abnormal electrophoretic patterns of lysosomal hydrolases. 38 8
7282783 1981
26
Correction of I-cell defect by hybridization with lysosomal enzyme deficient human fibroblasts. 38 8
6772024 1980
27
Neuraminidase in cultured fibroblasts and leucocytes of homozygotes and heterozygotes for the mucolipidosis II gene (I-cell disease). 38 8
517575 1979
28
Serum hexosaminidase activity in I-cell disease carriers. 38 8
852874 1977
29
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. 38 8
971412 1976
30
Deficit in neuraminidase associated with mucolipidosis II (I-cell disease). 38 8
990381 1976
31
Increased levels of sialic acid associated with a sialidase deficiency in I-cell disease (mucolipidosis II) fibroblasts. 38 8
61029 1976
32
Abnormal lysosomal hydrolases excreted by cultured fibroblasts in I-cell disease (mucolipidosis II). 38 8
1201084 1975
33
I-cell disease, mucolipidosis II. Pathological, histochemical, ultrastructural and biochemical observations in four cases. 38 8
4353613 1973
34
A hypothesis for I-cell disease: defective hydrolases that do not enter lysosomes. 38 8
4345092 1972
35
I-cell disease: biochemical studies. 38 8
4346288 1972
36
Ultrastructure of cultured fibroblasts in I-cell disease. 38 8
5567403 1971
37
A novel mouse model of a patient mucolipidosis II mutation recapitulates disease pathology. 8
25107912 2014
38
Blueberry muffin rash and thrombocytopenia in a newborn with mucolipidosis type II (I-cell disease) masquerading as congenital infections. 38 4
21959079 2011
39
Prenatal transient alveolomaxillary defect in a case of mucolipidosis II (I-cell disease). 38 4
20205156 2010
40
Molecular analysis of cell lines from patients with mucolipidosis II and mucolipidosis III. 9 4
19938078 2009
41
GNPTAB-Related Disorders 71
20301728 2008
42
Distinguishing Pacman dysplasia from mucolipidosis II: comment on Saul et al. [2005]. 8
15887286 2005
43
Mucolipidosis II presenting as severe neonatal hyperparathyroidism. 38 4
15580357 2005
44
Genetic defects of intracellular-membrane transport. 8
11027745 2000
45
Mucolipidosis type II in a domestic shorthair cat. 8
8887204 1996
46
Hereditary disorders in Saguenay-Lac-St-Jean (Quebec, Canada). 8
1937486 1991
47
Thyroglobulin, the major and obligatory exportable protein of thyroid follicle cells, carries the lysosomal recognition marker mannose-6-phosphate. 8
3582367 1987
48
Trafficking of lysosomal enzymes in normal and disease states. 8
3003148 1986
49
Identification and characterization of cells deficient in the mannose 6-phosphate receptor: evidence for an alternate pathway for lysosomal enzyme targeting. 8
6298775 1983
50
Mucolipidosis II: unusual presentation with a congenital angulated fracture. 8
7105472 1982

Variations for Mucolipidosis Ii Alpha/beta

ClinVar genetic disease variations for Mucolipidosis Ii Alpha/beta:

6 (show top 50) (show all 247)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GNPTAB NM_024312.5(GNPTAB): c.100G> C (p.Ala34Pro) single nucleotide variant Pathogenic rs1555277061 12:102224354-102224354 12:101830576-101830576
2 GNPTAB NM_024312.5(GNPTAB): c.310C> T (p.Gln104Ter) single nucleotide variant Pathogenic rs137852896 12:102183729-102183729 12:101789951-101789951
3 GNPTAB NM_024312.5(GNPTAB): c.3565C> T (p.Arg1189Ter) single nucleotide variant Pathogenic rs137852897 12:102147187-102147187 12:101753409-101753409
4 GNPTAB NM_024312.5(GNPTAB): c.3173C> G (p.Ser1058Ter) single nucleotide variant Pathogenic rs137852898 12:102153884-102153884 12:101760106-101760106
5 GNPTAB NM_024312.5(GNPTAB): c.3474_3475del (p.His1158fs) deletion Pathogenic rs281865038 12:102147277-102147278 12:101753499-101753500
6 GNPTAB NM_024312.5(GNPTAB): c.2681G> A (p.Trp894Ter) single nucleotide variant Pathogenic rs137852899 12:102158014-102158014 12:101764236-101764236
7 GNPTAB NM_024312.5(GNPTAB): c.2715+1G> A single nucleotide variant Pathogenic rs281865031 12:102157979-102157979 12:101764201-101764201
8 GNPTAB NM_024312.5(GNPTAB): c.2572_2573GA[1] (p.Asn859fs) short repeat Pathogenic rs281865029 12:102158120-102158121 12:101764342-101764343
9 GNPTAB NM_024312.5(GNPTAB): c.1625_1626insC (p.Glu542fs) insertion Pathogenic rs281865027 12:102159069-102159070 12:101765291-101765292
10 GNPTAB NM_024312.5(GNPTAB): c.3501_3502TC[1] (p.Leu1168fs) short repeat Pathogenic rs34002892 12:102147248-102147249 12:101753470-101753471
11 GNPTAB NM_024312.5(GNPTAB): c.3335+1G> A single nucleotide variant Pathogenic rs34940801 12:102151349-102151349 12:101757571-101757571
12 GNPTAB NM_024312.5(GNPTAB): c.3335+6T> G single nucleotide variant Pathogenic rs34788341 12:102151344-102151344 12:101757566-101757566
13 GNPTAB NM_024312.5(GNPTAB): c.1120T> C (p.Phe374Leu) single nucleotide variant Pathogenic rs137852900 12:102163963-102163963 12:101770185-101770185
14 GNPTAB NM_024312.5(GNPTAB): c.2659dup (p.Ser887fs) duplication Pathogenic rs281865030 12:102158036-102158036 12:101764258-101764258
15 GNPTAB NM_024312.5(GNPTAB): c.2918dup (p.Pro974_Glu975insTer) duplication Pathogenic rs281865032 12:102155123-102155123 12:101761345-101761345
16 GNPTAB NM_024312.5(GNPTAB): c.3231_3234dup (p.Tyr1079fs) duplication Pathogenic rs34256381 12:102153823-102153826 12:101760045-101760048
17 GNPTAB NM_024312.5(GNPTAB): c.3434+1G> A single nucleotide variant Pathogenic rs281865036 12:102150989-102150989 12:101757211-101757211
18 GNPTAB NM_024312.5(GNPTAB): c.2533C> T (p.Gln845Ter) single nucleotide variant Pathogenic rs281865028 12:102158162-102158162 12:101764384-101764384
19 GNPTAB NM_024312.5(GNPTAB): c.3145_3146insC (p.Gly1049fs) insertion Pathogenic rs281865033 12:102153911-102153912 12:101760133-101760134
20 GNPTAB NM_024312.5(GNPTAB): c.3249+1G> A single nucleotide variant Pathogenic rs281865012 12:102153807-102153807 12:101760029-101760029
21 GNPTAB NM_024312.5(GNPTAB): c.3252del (p.Pro1085fs) deletion Pathogenic rs281865035 12:102151433-102151433 12:101757655-101757655
22 GNPTAB NM_024312.5(GNPTAB): c.118-2A> G single nucleotide variant Pathogenic rs281865023 12:102190542-102190542 12:101796764-101796764
23 GNPTAB NM_024312.5(GNPTAB): c.1196C> T (p.Ser399Phe) single nucleotide variant Pathogenic rs281865026 12:102163887-102163887 12:101770109-101770109
24 GNPTAB NM_024312.5(GNPTAB): c.1581del (p.Cys528fs) deletion Pathogenic rs36007394 12:102159901-102159901 12:101766123-101766123
25 GNPTAB NM_024312.4(GNPTAB): c.1738TATA[3] (p.Ser581Ilefs) short repeat Pathogenic rs34924076 12:102158954-102158954 12:101765176-101765176
26 GNPTAB NM_024312.5(GNPTAB): c.2188delinsAAA (p.Leu730fs) indel Pathogenic rs34161232 12:102158507-102158507 12:101764729-101764729
27 GNPTAB NM_024312.5(GNPTAB): c.3569dup (p.Asn1190fs) duplication Pathogenic rs281865039 12:102147185-102147185 12:101753407-101753407
28 GNPTAB NM_024312.5(GNPTAB): c.3613C> T (p.Arg1205Ter) single nucleotide variant Pathogenic rs35333334 12:102142959-102142959 12:101749181-101749181
29 GNPTAB NM_024312.4(GNPTAB): c.555_556ins296 (p.?) insertion Pathogenic 12:102179805-102179806 12:101786027-101786028
30 GNPTAB NM_024312.5(GNPTAB): c.612_615ACAG[1] (p.Thr206fs) short repeat Pathogenic rs281865024 12:102174352-102174355 12:101780574-101780577
31 GNPTAB NM_024312.5(GNPTAB): c.850del (p.Thr284fs) deletion Pathogenic rs34517004 12:102164859-102164859 12:101771081-101771081
32 GNPTAB NM_024312.5(GNPTAB): c.2249dup (p.Asn750fs) duplication Pathogenic rs281864991 12:102158446-102158446 12:101764668-101764668
33 GNPTAB NM_024312.5(GNPTAB): c.1001G> T (p.Arg334Leu) single nucleotide variant Pathogenic rs281864970 12:102164296-102164296 12:101770518-101770518
34 GNPTAB NM_024312.5(GNPTAB): c.1090C> T (p.Arg364Ter) single nucleotide variant Pathogenic rs200646278 12:102164207-102164207 12:101770429-101770429
35 GNPTAB NM_024312.5(GNPTAB): c.1123C> T (p.Arg375Ter) single nucleotide variant Pathogenic rs397507447 12:102163960-102163960 12:101770182-101770182
36 GNPTAB NM_024312.4(GNPTAB): c.118-?_203+?dup86 duplication Pathogenic 12:102190455-102190540 12:101796677-101796762
37 GNPTAB NM_024312.5(GNPTAB): c.1191_1194dup (p.Ser399fs) duplication Pathogenic rs281864971 12:102163889-102163892 12:101770111-101770114
38 GNPTAB NM_024312.5(GNPTAB): c.1206dup (p.Ile403fs) duplication Pathogenic rs281864972 12:102163877-102163877 12:101770099-101770099
39 GNPTAB NM_024312.5(GNPTAB): c.121del (p.Val41fs) deletion Pathogenic rs281864948 12:102190537-102190537 12:101796759-101796759
40 GNPTAB NM_024312.5(GNPTAB): c.1331dup (p.Ser445fs) duplication Pathogenic rs281864976 12:102161892-102161892 12:101768114-101768114
41 GNPTAB NM_024312.5(GNPTAB): c.136C> T (p.Arg46Ter) single nucleotide variant Pathogenic rs78347057 12:102190522-102190522 12:101796744-101796744
42 GNPTAB NM_024312.5(GNPTAB): c.1381T> G (p.Cys461Gly) single nucleotide variant Pathogenic rs281864977 12:102161842-102161842 12:101768064-101768064
43 GNPTAB NM_024312.5(GNPTAB): c.1399del (p.Asp467fs) deletion Pathogenic rs397507448 12:102161824-102161824 12:101768046-101768046
44 GNPTAB NM_024312.5(GNPTAB): c.1519C> T (p.Gln507Ter) single nucleotide variant Pathogenic rs281864981 12:102159962-102159962 12:101766184-101766184
45 GNPTAB NM_024312.5(GNPTAB): c.163dup (p.Ser55fs) duplication Pathogenic rs281864949 12:102190495-102190495 12:101796717-101796717
46 GNPTAB NM_024312.5(GNPTAB): c.171del (p.Asp58fs) deletion Pathogenic rs281864951 12:102190487-102190487 12:101796709-101796709
47 GNPTAB NM_024312.5(GNPTAB): c.1759C> T (p.Arg587Ter) single nucleotide variant Pathogenic rs281864982 12:102158936-102158936 12:101765158-101765158
48 GNPTAB NM_024312.5(GNPTAB): c.1955_1958TAGT[1] (p.Ser654fs) short repeat Pathogenic rs281864983 12:102158733-102158736 12:101764955-101764958
49 GNPTAB NM_024312.5(GNPTAB): c.1965del (p.Pro655_Ile656insTer) deletion Pathogenic rs281864984 12:102158730-102158730 12:101764952-101764952
50 GNPTAB NM_024312.5(GNPTAB): c.1999G> T (p.Glu667Ter) single nucleotide variant Pathogenic rs281864985 12:102158696-102158696 12:101764918-101764918

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

74
# 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 Chromosom Start End Type Gene Symbol CNVD Disease
1 61684 12 100663407 100748763 Microduplication or deletion GNPTAB Mucolipidosis types II

Expression for Mucolipidosis Ii Alpha/beta

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

Pathways for Mucolipidosis Ii Alpha/beta

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

37
# 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
11.76 SMPD1 PSAP NEU1 GM2A ARSH
2 11.45 SMPD1 PSAP NEU1 M6PR IGF2R GUSB
3 10.95 M6PR IGF2R
4 10.41 NEU1 FUCA1

GO Terms for Mucolipidosis Ii Alpha/beta

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.86 SMPD1 PSAP NEU1 GUSB GNPTG GM2A
2 extracellular exosome GO:0070062 9.81 SMPD1 PSAP NEU1 IGF2R GUSB GNPTG
3 intracellular membrane-bounded organelle GO:0043231 9.8 PSAP NEU1 GUSB GNPTG CTSB
4 lysosomal membrane GO:0005765 9.62 PSAP NEU1 M6PR IGF2R
5 azurophil granule lumen GO:0035578 9.54 GUSB GM2A FUCA1
6 clathrin-coated vesicle membrane GO:0030665 9.43 M6PR IGF2R
7 lysosomal lumen GO:0043202 9.43 SMPD1 PSAP NEU1 GUSB GM2A FUCA1
8 lysosome GO:0005764 9.28 SMPD1 PSAP NEU1 M6PR IGF2R GUSB

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.67 NEU1 GUSB FUCA1
2 metabolic process GO:0008152 9.56 SMPD1 NEU1 GUSB FUCA1
3 sphingolipid metabolic process GO:0006665 9.48 PSAP GM2A
4 glycosaminoglycan catabolic process GO:0006027 9.46 GUSB FUCA1
5 carbohydrate phosphorylation GO:0046835 9.43 GNPTG GNPTAB
6 oligosaccharide catabolic process GO:0009313 9.4 NEU1 GM2A
7 ganglioside catabolic process GO:0006689 9.37 NEU1 GM2A
8 secretion of lysosomal enzymes GO:0033299 9.32 M6PR GNPTAB
9 glycosphingolipid metabolic process GO:0006687 9.26 SMPD1 PSAP NEU1 GM2A
10 neutrophil degranulation GO:0043312 9.17 PSAP NEU1 IGF2R GUSB GM2A FUCA1
11 N-glycan processing to lysosome GO:0016256 8.85 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 9.56 SMPD1 NEU1 GUSB GM2A FUCA1 CTSB
2 enzyme activator activity GO:0008047 9.32 PSAP GM2A
3 mannose binding GO:0005537 9.26 M6PR IGF2R
4 UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity GO:0003976 9.16 GNPTG GNPTAB
5 hydrolase activity, acting on glycosyl bonds GO:0016798 8.92 SMPD1 NEU1 GUSB FUCA1

Sources for Mucolipidosis Ii Alpha/beta

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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