MCID: MCL013
MIFTS: 67

Mucolipidosis Iv

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

Aliases & Classifications for Mucolipidosis Iv

MalaCards integrated aliases for Mucolipidosis Iv:

Name: Mucolipidosis Iv 57 24 75 37 29 13
Mucolipidosis Type Iv 12 53 25 59 75 29 6 73
Gangliosidosis 12 76 53 55 15
Ganglioside Sialidase Deficiency 53 25 29 40
Sialolipidosis 57 25 75
Ml4 57 25 75
Mucolipidosis Type 4 76 53
Gangliosidoses 44 73
Mliv 25 75
Ganglioside Neuraminidase Deficiency 53
Type Iv Mucolipidosis 55
Berman Syndrome 53
Mucolipidosis 4 75
Ml Iv 57
Ml 4 53

Characteristics:

Orphanet epidemiological data:

59
mucolipidosis type iv
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Sweden),1-9/100000; Age of onset: Infancy; Age of death: adult;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in first year of life
increased frequency in ashkenazi jewish population (1/100 are carriers)


HPO:

32
mucolipidosis iv:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mucolipidosis Iv

NIH Rare Diseases : 53 Mucolipidosis type 4 is a metabolic condition that affects the body's ability to process certain carbohydrates and fats. As a result, these materials accumulate in cells leading to the various signs and symptoms of the condition. Most people with mucolipidosis type 4 develop severe psychomotor (mental and motor skills) delay by the end of the first year of life and visual impairment that worsens over time. Other common features of the condition include limited or absent speech; intellectual disability; hypotonia that gradually progresses to spasticity; problems controlling hand movements; impaired production of stomach acids; and iron deficiency. Approximately 5% of affected people have a mild form of the condition (known as atypical mucolipidosis type 4) which is associated with milder psychomotor delay and less severe eye abnormalities. Mucolipidosis type 4 is caused by changes (mutations) in the MCOLN1 gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.

MalaCards based summary : Mucolipidosis Iv, also known as mucolipidosis type iv, is related to gangliosidosis gm1 and sandhoff disease, and has symptoms including photophobia An important gene associated with Mucolipidosis Iv is MCOLN1 (Mucolipin 1), and among its related pathways/superpathways are Lysosome and Metabolism. The drugs Dexamethasone and Parecoxib have been mentioned in the context of this disorder. Affiliated tissues include eye, lung and bone, and related phenotypes are nystagmus and intellectual disability

Genetics Home Reference : 25 Mucolipidosis type IV is an inherited disorder characterized by delayed development and vision impairment that worsens over time. The severe form of the disorder is called typical mucolipidosis type IV, and the mild form is called atypical mucolipidosis type IV.

OMIM : 57 Mucolipidosis IV is an autosomal recessive neurodegenerative lysosomal storage disorder characterized by psychomotor retardation and ophthalmologic abnormalities. The lysosomal hydrolases in ML IV are normal, in contrast to most other storage diseases. The disorder results from a defect in transport along the lysosomal pathway, affecting membrane sorting and/or late steps of endocytosis, which causes intracellular accumulation of lysosomal substrates. Over 80% of the patients in whom the diagnosis of ML IV has been made are Ashkenazi Jews, including severely affected and mildly affected patients (Chen et al., 1998). (252650)

UniProtKB/Swiss-Prot : 75 Mucolipidosis 4: An autosomal recessive lysosomal storage disorder characterized by severe psychomotor retardation and ophthalmologic abnormalities, including corneal opacity, retinal degeneration and strabismus. Storage bodies of lipids and water-soluble substances are seen by electron microscopy in almost every cell type of the patients. Most patients are unable to speak or walk independently and reach a maximal developmental level of 1-2 years. All patients have constitutive achlorhydia associated with a secondary elevation of serum gastrin levels.

Wikipedia : 76 Gangliosidosis contains different types of lipid storage disorders caused by the accumulation of lipids... more...

GeneReviews: NBK1214

Related Diseases for Mucolipidosis Iv

Diseases in the Mucolipidosis Iv family:

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

Diseases related to Mucolipidosis Iv via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 78)
# Related Disease Score Top Affiliating Genes
1 gangliosidosis gm1 33.0 GALNS GLB1 HEXA PSAP
2 sandhoff disease 31.6 GM2A HEXA HEXB HHEX
3 cerebral lipidosis 30.1 GLB1 HEXA
4 galactosialidosis 29.6 CTSA GLB1
5 metachromatic leukodystrophy 29.5 HEXA PSAP
6 gangliosidosis gm2 29.4 CTSA ETFA GLB1 GM2A HEXA HEXB
7 tay-sachs disease 27.9 CTSA ETFA GLB1 GM2A HEXA HEXB
8 lysosomal storage disease 27.7 CTSA GALNS GLB1 HEXA HEXB MCOLN1
9 gm1-gangliosidosis, type iii 12.2
10 gm1-gangliosidosis, type ii 12.2
11 gm1-gangliosidosis, type i 12.2
12 gm2 gangliosidosis, 0 variant 12.0
13 gm2-gangliosidosis, ab variant 11.4
14 tay-sachs disease, b variant, juvenile form 11.2
15 tay-sachs disease, b variant, infantile form 11.2
16 tay-sachs disease, b1 variant 11.2
17 tay-sachs disease, b variant, adult form 11.2
18 mucolipidoses 11.1
19 generalized gangliosidoses 10.9
20 neuronitis 10.3
21 mannosidosis, alpha b, lysosomal 10.2 CTSA HEXA
22 dystonia 10.2
23 fucosidosis 10.1 CTSA HEXA
24 type i 10.1
25 mannosidosis, beta a, lysosomal 10.1 CTSA HEXA
26 motor neuron disease 10.1
27 morquio syndrome 10.0 GALNS GLB1
28 mongolian spot 10.0
29 cerebritis 10.0
30 mucopolysaccharidosis-plus syndrome 10.0 GALNS HEXA
31 retinitis 9.9
32 mucolipidosis ii alpha/beta 9.8 GM2A PSAP
33 hepatitis 9.8
34 dementia 9.8
35 neuronal ceroid lipofuscinosis 9.8
36 muscular atrophy 9.8
37 depression 9.8
38 muscle disorders 9.8
39 fundus dystrophy 9.8
40 mucopolysaccharidosis, type vii 9.8 GALNS GLB1 HEXA
41 inclusion-cell disease 9.7 CTSA GLB1 PSAP
42 glycoproteinosis 9.7 CTSA GLB1 PSAP
43 lipid storage disease 9.7 GLB1 HEXA MCOLN1 PSAP
44 prader-willi syndrome 9.7
45 friedreich ataxia 1 9.7
46 hydrocephalus, normal-pressure 9.7
47 3-methylglutaconic aciduria, type iii 9.7
48 insulin-like growth factor i 9.7
49 dihydropyrimidine dehydrogenase deficiency 9.7
50 fabry disease 9.7

Graphical network of the top 20 diseases related to Mucolipidosis Iv:



Diseases related to Mucolipidosis Iv

Symptoms & Phenotypes for Mucolipidosis Iv

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
hyperreflexia
dystonia
dysplastic corpus callosum
hypotonia
mental retardation
more
Head And Neck Eyes:
optic atrophy
photophobia
strabismus
corneal clouding
corneal opacities
more
Laboratory Abnormalities:
skin fibroblasts contain cytoplasmic membrane-bound granular inclusions
cytoplasmic lamellar concentric inclusions
inclusions contain phospholipids, phosphatidylcholine, sphingolipids, gangliosides, mucopolysaccharides
normal lysosomal hydrolases
increased serum gastrin
more
Head And Neck Head:
microcephaly

Abdomen Gastrointestinal:
achlorhydria


Clinical features from OMIM:

252650

Human phenotypes related to Mucolipidosis Iv:

59 32 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
2 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
3 ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0001251
4 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
5 gait disturbance 59 32 hallmark (90%) Very frequent (99-80%) HP:0001288
6 hyperreflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001347
7 eeg abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0002353
8 coarse facial features 59 32 occasional (7.5%) Occasional (29-5%) HP:0000280
9 corneal opacity 59 32 hallmark (90%) Very frequent (99-80%) HP:0007957
10 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
11 abnormality of retinal pigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0007703
12 retinopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000488
13 photophobia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000613
14 palmoplantar keratoderma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000982
15 aplasia/hypoplasia of the abdominal wall musculature 59 32 hallmark (90%) Very frequent (99-80%) HP:0010318
16 strabismus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000486
17 everted lower lip vermilion 59 32 occasional (7.5%) Occasional (29-5%) HP:0000232
18 abnormal electroretinogram 59 32 occasional (7.5%) Occasional (29-5%) HP:0000512
19 microdontia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000691
20 absent speech 59 32 hallmark (90%) Very frequent (99-80%) HP:0001344
21 genu recurvatum 59 32 occasional (7.5%) Occasional (29-5%) HP:0002816
22 abnormality of ganglioside metabolism 59 32 hallmark (90%) Very frequent (99-80%) HP:0004345
23 biparietal narrowing 59 32 occasional (7.5%) Occasional (29-5%) HP:0004422
24 abnormal nasal morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0005105
25 developmental stagnation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007281
26 abnormality of mucopolysaccharide metabolism 59 32 hallmark (90%) Very frequent (99-80%) HP:0011020
27 behavioral abnormality 59 Very frequent (99-80%)
28 global developmental delay 32 HP:0001263
29 optic atrophy 32 HP:0000648
30 spastic tetraplegia 32 HP:0002510
31 opacification of the corneal stroma 32 HP:0007759
32 babinski sign 32 HP:0003487
33 dystonia 32 HP:0001332
34 cerebellar atrophy 32 HP:0001272
35 generalized hypotonia 32 HP:0001290
36 retinal degeneration 32 HP:0000546
37 dysplastic corpus callosum 32 HP:0006989
38 cerebral dysmyelination 32 HP:0007266
39 abnormality of abdomen morphology 32 HP:0001438
40 decreased light- and dark-adapted electroretinogram amplitude 32 HP:0000654

UMLS symptoms related to Mucolipidosis Iv:


photophobia

GenomeRNAi Phenotypes related to Mucolipidosis Iv according to GeneCards Suite gene sharing:

26 (show all 23)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 10.05 HHEX
2 Increased shRNA abundance (Z-score > 2) GR00366-A-116 10.05 GALNS
3 Increased shRNA abundance (Z-score > 2) GR00366-A-127 10.05 HHEX
4 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.05 GALNS
5 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.05 GALNS
6 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.05 CTSA
7 Increased shRNA abundance (Z-score > 2) GR00366-A-183 10.05 GALNS
8 Increased shRNA abundance (Z-score > 2) GR00366-A-199 10.05 GALNS HHEX CTSA
9 Increased shRNA abundance (Z-score > 2) GR00366-A-208 10.05 HHEX
10 Increased shRNA abundance (Z-score > 2) GR00366-A-21 10.05 CTSA
11 Increased shRNA abundance (Z-score > 2) GR00366-A-215 10.05 CTSA
12 Increased shRNA abundance (Z-score > 2) GR00366-A-23 10.05 GALNS
13 Increased shRNA abundance (Z-score > 2) GR00366-A-25 10.05 CTSA
14 Increased shRNA abundance (Z-score > 2) GR00366-A-3 10.05 HHEX
15 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.05 CTSA
16 Increased shRNA abundance (Z-score > 2) GR00366-A-46 10.05 HHEX
17 Increased shRNA abundance (Z-score > 2) GR00366-A-50 10.05 CTSA
18 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.05 CTSA GALNS
19 Increased shRNA abundance (Z-score > 2) GR00366-A-82 10.05 GALNS
20 Increased shRNA abundance (Z-score > 2) GR00366-A-83 10.05 GALNS
21 Increased shRNA abundance (Z-score > 2) GR00366-A-93 10.05 CTSA
22 Increased shRNA abundance (Z-score > 2) GR00366-A-96 10.05 CTSA
23 Reduced mammosphere formation GR00396-S 9.02 CTSA ETFA GLB1 MTOR PSAP

MGI Mouse Phenotypes related to Mucolipidosis Iv:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.13 CTSA GLB1 GM2A HEXA HEXB MCOLN1
2 homeostasis/metabolism MP:0005376 10.11 CTSA GALNS GLB1 HEXA HEXB HHEX
3 growth/size/body region MP:0005378 10.1 MTOR PSAP CTSA GLB1 HEXA HEXB
4 cellular MP:0005384 10.05 CTSA GALNS GLB1 HEXB HHEX MTOR
5 hematopoietic system MP:0005397 10.02 HHEX MCOLN1 MTOR PSAP CTSA GLB1
6 immune system MP:0005387 9.98 CTSA GLB1 HEXB HHEX MCOLN1 MTOR
7 mortality/aging MP:0010768 9.97 MTOR PSAP CTSA GLB1 HEXA HEXB
8 liver/biliary system MP:0005370 9.88 CTSA GLB1 HEXA HEXB HHEX PSAP
9 nervous system MP:0003631 9.86 GLB1 GM2A HEXA HEXB HHEX MCOLN1
10 renal/urinary system MP:0005367 9.76 CTSA GALNS GLB1 HEXA HEXB MCOLN1
11 muscle MP:0005369 9.72 HEXB HHEX MCOLN1 MTOR PSAP
12 skeleton MP:0005390 9.43 GALNS GLB1 HEXA HEXB MTOR PSAP
13 vision/eye MP:0005391 9.1 GALNS HEXA HEXB HHEX MCOLN1 PSAP

Drugs & Therapeutics for Mucolipidosis Iv

Drugs for Mucolipidosis Iv (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 376)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 50-02-2 5743
2 Parecoxib Approved Phase 4 198470-84-7
3
Bupivacaine Approved, Investigational Phase 4,Phase 1,Not Applicable 2180-92-9, 38396-39-3 2474
4
Fluorouracil Approved Phase 4,Phase 3,Phase 1,Phase 2 51-21-8 3385
5
Oxaliplatin Approved, Investigational Phase 4,Phase 2,Phase 1 61825-94-3 5310940 9887054 43805 6857599
6
Acetaminophen Approved Phase 4,Phase 2,Phase 3 103-90-2 1983
7
Dopamine Approved Phase 4,Phase 3,Phase 1 51-61-6, 62-31-7 681
8
Morphine Approved, Investigational Phase 4,Phase 2,Phase 3,Not Applicable 57-27-2 5288826
9
Tranexamic Acid Approved Phase 4,Phase 3,Not Applicable 1197-18-8 5526
10
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 83-43-2 6741
11
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 50-24-8 5755
12
Haloperidol Approved Phase 4,Phase 3 52-86-8 3559
13
Ketoprofen Approved, Vet_approved Phase 4,Not Applicable 22071-15-4 3825
14
Epinephrine Approved, Vet_approved Phase 4,Not Applicable 51-43-4 5816
15
Racepinephrine Approved Phase 4,Not Applicable 329-65-7 838
16
Carboplatin Approved Phase 4,Phase 3,Phase 2,Phase 1 41575-94-4 10339178 498142 38904
17
Paclitaxel Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 33069-62-4 36314
18
Midazolam Approved, Illicit Phase 4,Phase 1,Not Applicable 59467-70-8 4192
19
Propofol Approved, Investigational, Vet_approved Phase 4,Phase 3,Not Applicable 2078-54-8 4943
20
Clonidine Approved Phase 4 4205-90-7 2803
21
Oxytocin Approved, Vet_approved Phase 4 50-56-6 439302 53477758
22
Alfentanil Approved, Illicit Phase 4 71195-58-9 51263
23
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4,Phase 3,Not Applicable 437-38-7 3345
24
Remifentanil Approved Phase 4,Phase 3 132875-61-7 60815
25
Lidocaine Approved, Vet_approved Phase 4,Phase 2,Not Applicable 137-58-6 3676
26
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
27
Thiopental Approved, Vet_approved Phase 4 76-75-5 3000715
28
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
29
Ketamine Approved, Vet_approved Phase 4,Not Applicable 6740-88-1 3821
30
Ondansetron Approved Phase 4,Phase 3,Phase 2,Not Applicable 99614-02-5 4595
31
Sufentanil Approved, Investigational Phase 4,Phase 3 56030-54-7 41693
32
Prochlorperazine Approved, Vet_approved Phase 4,Phase 3 1984-02-6, 58-38-8 4917
33
Cisplatin Approved Phase 4,Phase 3,Phase 1,Phase 2 15663-27-1 84093 441203 2767
34
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 4,Phase 3,Not Applicable 7487-88-9 24083
35
Sevoflurane Approved, Vet_approved Phase 4,Not Applicable 28523-86-6 5206
36
Diphenhydramine Approved, Investigational Phase 4 147-24-0, 58-73-1 3100
37
Histamine Approved, Investigational Phase 4 75614-87-8, 51-45-6 774
38
Promethazine Approved, Investigational Phase 4 60-87-7 4927
39
Triamcinolone Approved, Vet_approved Phase 4,Phase 1,Not Applicable 124-94-7 31307
40
Furosemide Approved, Vet_approved Phase 4 54-31-9 3440
41
leucovorin Approved, Nutraceutical Phase 4,Phase 3,Phase 1,Phase 2 58-05-9 143 6006
42 Antiemetics Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
43 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
44 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
45 Autonomic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
46 BB 1101 Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
47 Dexamethasone acetate Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 1177-87-3
48 Gastrointestinal Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
49 glucocorticoids Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
50 HIV Protease Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 151)
# Name Status NCT ID Phase Drugs
1 Efficacy of Preoperative Intravenous Dexamethasone in Primary Total Knee Arthroplasty Unknown status NCT02102815 Phase 4 Dexamethasone;Normal saline
2 Effect Study of Parecoxib to Treat Emergence Delirium and Postoperative Pain Unknown status NCT01221025 Phase 4 Parecoxib
3 Comparison of Analgesic Consumption Between Perioperative ıv Dexamethasone and Added to Femoral Block Unknown status NCT02090790 Phase 4 iv dexamethasone;femoral dexamethasone;serum physiologic
4 Safety of Orectalip® (Oxaliplatin) as Adjuvant Treatment for High-risk Stage-Ⅱ Colorectal Cancer Completed NCT02284529 Phase 4 Orectalip
5 Safety Study of Hyoscine N Butyl Bromide in Active Management of Labor Completed NCT02098889 Phase 4 hyoscine-N-butyl bromide(HBB);Saline
6 Preemptive Analgesia With Intravenous Paracetamol for Post-cesarean Section Pain Control Completed NCT02369133 Phase 4 paracetamol;Placebo
7 Preventing ICU Subsyndromal Delirium Conversion to Delirium With Haloperidol Completed NCT01174290 Phase 4 Haloperidol decanoate;Placebo
8 Oral Self Medication Versus IV Administration of Pain Killers After Caesarian Delivery Completed NCT01566253 Phase 4 Acetaminophen, ketoprofen, morphine;Acetaminophen, ketoprofen,morphine
9 Acetaminophen for Chronic Pain in Hysterectomy Completed NCT02086747 Phase 4 Acetaminophen;Isotonic
10 Effects of Articaine Computer-controlled and Conventional Delivery for Anterior and Middle Superior Alveolar Nerve Block Completed NCT02440347 Phase 4
11 Safety and Efficacy Study of Abraxane in Combination With Carboplatin to Treat Advanced NSCL Cancer in the Elderly Completed NCT02151149 Phase 4 nab-paclitaxel;Carboplatin
12 Efficacy of Propofol or Midazolam Compare to Placebo for Preoperative Medication Completed NCT01976845 Phase 4 Midazolam;Propofol;Saline
13 The Effect of Clonidine in Glycemia During Coronary Artery Bypass Graft With Cardiopulmonary By-pass Completed NCT01619436 Phase 4 Clonidine;Ringer lactato
14 Testing of the Drug Tranexamic Acids as Prophylaxis of Bleeding in Benign Surgical Removal of the Uterus Completed NCT01940419 Phase 4 Tranexamic Acid;Placebo
15 IV Versus IM Administration of Oxytocin for Postpartum Bleeding Completed NCT02954068 Phase 4 IV Oxytocin + IM placebo;IM Oxytocin + IV placebo
16 Topical Interferon Alfa 2b and Mitomycin C in Conjunctival-Corneal Intraepithelial Neoplasia Completed NCT02199327 Phase 4 Mitomycin C;Interferon Alfa-2b
17 Intranasal Midazolam for Treatment of Anxiety in Children Undergoing Suturing in the Pediatric Emergency Department Completed NCT02618772 Phase 4 Midazolam;Saline
18 Effect of IV Acetaminophen on Patients in the Neurocritical Care Unit Completed NCT01948505 Phase 4 Intravenous acetaminophen;Placebo for IV acetaminophen
19 Analgesic Benefits of Perineural Versus Intravenous Dexamethasone in Patients Receiving Sciatic Nerve Block Completed NCT01616173 Phase 4 Dexamethasone;Dexamethasone;Saline
20 Alfentanil Versus Remifentanil in Patient-controlled Sedation During Endoscopic Retrograde Cholangiopancreatography (ERCP) Completed NCT01350037 Phase 4 alfentanil;remifentanil
21 The Prevention of Pain Associated With Rocuronium Injection Completed NCT02524743 Phase 4 acetaminophen;Lidocaine
22 Pain Outcomes of Intra-operative IV Tylenol and/or IV Toradol for Carpal Tunnel and Distal Radius Fracture Surgeries Completed NCT02313675 Phase 4 Acetaminophen;Ketorolac Tromethamine;Saline
23 The Effect of Intraoperative Ketamine on Opioid Consumption and Pain After Spine Surgery in Opioid-dependent Patients Completed NCT02085577 Phase 4 (S)-(+)-Ketamine Hydrochloride Solution 25 mg/ml;Isotonic sodium chloride 0.9 percent;Paracetamol 1 g;Morphine Sulphate 1 mg/ml;Morphine Sulphate 1 mg/ml;Ondansetron 2 mg/ml;Usual daily opioids;Morphine Sulphate 1 mg/ml;Sufentanil 5 microgram/ml
24 Intravenous Fluids in Benign Headaches Trail Recruiting NCT03185130 Phase 4 Normal Saline 5mL;Normal Saline 20mL/kg;Prochlorperazine 0.15 mg/kg up to 10 mg IV;Diphenhydramine 1 mg/kg up to 50 mg IV
25 Intranasal Sufentanil Versus Intravenous Morphine for the Management of Acute Pain Recruiting NCT03224039 Phase 4 Sufentanil;Normal saline;Morphine
26 Preloading Magnesium Attenuate Cisplatin-induced Nephrotoxicity Recruiting NCT02481518 Phase 4 Magnesium
27 Ketorolac on Posterior Thoracolumbar Spinal Fusions Recruiting NCT03278691 Phase 4 Saline;Ketorolac
28 Effect of Albumin Administration on Vasopressor Duration in Resolving Septic Shock Recruiting NCT02716597 Phase 4 25% Albumin;Placebo
29 Steroids and Microcirculation In Cardiac Surgery Recruiting NCT02798068 Phase 4 Solu-medrol or placebo administration
30 A Comparison of Dexamethasone and Triamcinolone for Ultrasound-guided Occipital C2 Nerve Blocks Recruiting NCT02655523 Phase 4 Triamcinolone;Dexamethasone;Normal Saline;Bupivacaine
31 Evaluate the Efficacy of Xuebijing Injection in Acute Exacerbations of COPD Active, not recruiting NCT02937974 Phase 4 Xuebijing;Placebo
32 Diphenhydramine as an Adjunctive Sedative in Patients on Chronic Opioids Active, not recruiting NCT01967433 Phase 4 Diphenhydramine;Placebo
33 Effect of Furosemide on Confirmation of Ureteral Patency During Routine Cystoscopy Not yet recruiting NCT02960412 Phase 4 furosemide;Normal Saline
34 Tranexamic Acid for Preventing Postpartum Hemorrhage After Cesarean Section Not yet recruiting NCT02936661 Phase 4 Tranexamic Acid;Placebo
35 Efficacy of IV Acetaminophen Versus Oral Acetaminophen Not yet recruiting NCT03365622 Phase 4 acetaminophen;Acetaminophen;Placebos;Placebo Oral Tablet
36 Effects of Articaine Computer-controlled and Conventional Delivery for Anterior and Middle Superior Alveolar Nerve Block for Tooth Extraction Withdrawn NCT03225326 Phase 4 Computer controlled 4% articaine delivery by Anaeject;Conventional 4% articaine delivery by carpule syringe
37 Use of Dexmedetomidine in Children Undergoing Oral Maxillofacial Surgery to Decrease Emergence Delirium Withdrawn NCT01353378 Phase 4 dexmedetomidine
38 Prochlorperazine Versus Prochlorperazine & Ketorolac in Treatment of Pediatric Migraine in the Emergency Department Withdrawn NCT01534806 Phase 4 Ketorolac;Placebo
39 Trial of FFP+HDMP+Rituximab for Ultra-high Risk Chronic Lymphocytic Leukemia Unknown status NCT01670812 Phase 3 FFP+HDMP+Rituximab
40 A PhaseⅡ/ Ⅲ Seamless Study to Evaluate Efficacy and Safety of Paracetamol Injection as Adjuvant to Morphine-based Postoperative Analgesia Unknown status NCT02811991 Phase 2, Phase 3 Paracetamol injection;Normal Saline injection;Morhpine PCA
41 Management of Hypotension In the Preterm Infant Unknown status NCT01482559 Phase 3 Dopamine hydrochloride;Dextrose 5%
42 Efficacy and Safety of Methylprednisolone Per os Versus IV for the Treatment of Multiple Sclerosis (MS) Relapses Unknown status NCT00984984 Phase 3 methylprednisolone PO;methylprednisolone IV
43 Efficacy and Safety Study of Sodium Tanshinone IIA Sulfonate on Pulmonary Hypertension Unknown status NCT01637675 Phase 2, Phase 3 20 mg sildenafil citrate by mouth;sodium tanshinone IIA sulfonate diluted with 5% glucose solution,20mg sildenafil citrate by mouth
44 Study on the Effect of Intravenous Ascorbic Acid on Intraoperative Blood Loss in Women With Uterine Myoma Completed NCT01715597 Phase 3 ascorbic acid;Normal saline
45 Phenylephrine or Norepinephrine for a Better Hemodynamic Stability Completed NCT03215797 Phase 3 phenylephrine;Norepinephrine
46 A Randomized Placebo-Controlled Trial of Manuka Honey for Oral Mucositis Due to Radiation Therapy for Cancer Completed NCT00615420 Phase 3
47 Phase III Trial of DP Followed by FOLFIRI or the Reverse Sequence in Unresectable Gastric Cancer Completed NCT00313872 Phase 3 DP;FOLFIRI
48 Dexamethasone Versus Placebo in Optimizing the Postoperative Period After Laparoscopic Inguinal Hernia Repair Completed NCT01170780 Phase 3 Dexamethasone;Saline
49 Rituximab in Systemic Sclerosis Completed NCT01748084 Phase 2, Phase 3 Rituximab;Placebo (NaCl)
50 Benefits of Exchanging a Double Lumen Tube to a Proseal Laryngeal Mask or a Single Lumen Tube After a Thoracic Surgery Completed NCT00925613 Phase 3

Search NIH Clinical Center for Mucolipidosis Iv

Cochrane evidence based reviews: gangliosidoses

Genetic Tests for Mucolipidosis Iv

Genetic tests related to Mucolipidosis Iv:

# Genetic test Affiliating Genes
1 Mucolipidosis Type Iv 29 MCOLN1
2 Ganglioside Sialidase Deficiency 29
3 Mucolipidosis Iv 29

Anatomical Context for Mucolipidosis Iv

MalaCards organs/tissues related to Mucolipidosis Iv:

41
Eye, Lung, Bone, Brain, Liver, Skin, B Cells

Publications for Mucolipidosis Iv

Articles related to Mucolipidosis Iv:

(show top 50) (show all 112)
# Title Authors Year
1
Fingolimod Phosphate Inhibits Astrocyte Inflammatory Activity in Mucolipidosis IV. ( 29771310 )
2018
2
Elucidating the behavioral phenotype of patients affected with mucolipidosis IV: What can we learn from the parents? ( 28392473 )
2017
3
Mucolipidosis IV: A milder form with novel mutations and serial MRI findings. ( 26926398 )
2016
4
Fusion of lysosomes with secretory organelles leads to uncontrolled exocytosis in the lysosomal storage disease mucolipidosis type IV. ( 26682800 )
2016
5
The first genetically confirmed Japanese patient with mucolipidosis type IV. ( 27190617 )
2016
6
Retinal Dystrophy and Optic Nerve Pathology inA the Mouse Model of Mucolipidosis IV. ( 26608452 )
2016
7
Impaired myelination and reduced brain ferric iron in the mouse model of mucolipidosis IV. ( 26398942 )
2015
8
Mucolipidosis type IV protein TRPML1-dependent lysosome formation. ( 25491304 )
2015
9
The mucolipidosis IV Ca2+ channel TRPML1 (MCOLN1) is regulated by the TOR kinase. ( 26195823 )
2015
10
A small molecule restores function to TRPML1 mutant isoforms responsible for mucolipidosis type IV. ( 25119295 )
2014
11
A novel homozygous MCOLN1 double mutant allele leading to TRP channel domain ablation underlies Mucolipidosis IV in an Italian Child. ( 25156245 )
2014
12
Behavioral deficits, early gliosis, dysmyelination and synaptic dysfunction in a mouse model of mucolipidosis IV. ( 25200117 )
2014
13
Systematic screens for proteins that interact with the mucolipidosis type IV protein TRPML1. ( 23418601 )
2013
14
Characterization and expression analysis of mcoln1.1 and mcoln1.2, the putative zebrafish co-orthologs of the gene responsible for human mucolipidosis type IV. ( 23585356 )
2013
15
Quantitative neuroimaging in mucolipidosis type IV. ( 24332805 )
2013
16
A novel mutation in a large family causes a unique phenotype of Mucolipidosis IV. ( 23685283 )
2013
17
LAPTMs regulate lysosomal function and interact with mucolipin 1: new clues for understanding mucolipidosis type IV. ( 21224396 )
2011
18
Mucolipidosis type IV: an update. ( 21763169 )
2011
19
Mucolipidosis type IV: a subtle pediatric neurodegenerative disorder. ( 20159435 )
2010
20
Zinc dyshomeostasis is linked with the loss of mucolipidosis IV-associated TRPML1 ion channel. ( 20864526 )
2010
21
What's your diagnosis? Mucolipidosis IV (Berman syndrome). ( 19496492 )
2009
22
Chaperone-mediated autophagy is defective in mucolipidosis type IV. ( 19117012 )
2009
23
Mucolipidosis type IV: the effect of increased lysosomal pH on the abnormal lysosomal storage. ( 19247216 )
2009
24
Neuropathology of the Mcoln1(-/-) knockout mouse model of mucolipidosis type IV. ( 19151629 )
2009
25
Mucolipidosis type IV in a Turkish boy associated with a novel MCOLN1 mutation. ( 19006653 )
2009
26
Gene expression profiling of mucolipidosis type IV fibroblasts reveals deregulation of genes with relevant functions in lysosome physiology. ( 18258208 )
2008
27
Mucolipidosis type IV: the importance of functional lysosomes for efficient autophagy. ( 18635948 )
2008
28
A variant form of mucolipidosis IV: report on 4 patients from the Indian subcontinent. ( 19073851 )
2008
29
Autophagic dysfunction in mucolipidosis type IV patients. ( 18550655 )
2008
30
Motor deficit in a Drosophila model of mucolipidosis type IV due to defective clearance of apoptotic cells. ( 19041749 )
2008
31
Membrane traffic and turnover in TRP-ML1-deficient cells: a revised model for mucolipidosis type IV pathogenesis. ( 18504305 )
2008
32
Mucolipidosis IV: report of a case with ocular restricted phenotype caused by leaky splice mutation. ( 17239335 )
2007
33
Neurologic, gastric, and opthalmologic pathologies in a murine model of mucolipidosis type IV. ( 17924347 )
2007
34
Mitochondrial aberrations in mucolipidosis Type IV. ( 17056595 )
2006
35
Rapid one-step carrier detection assay of mucolipidosis IV mutations in the Ashkenazi Jewish population. ( 16645217 )
2006
36
Basis of lethality in C. elegans lacking CUP-5, the Mucolipidosis Type IV orthologue. ( 16530747 )
2006
37
Suppression of the cup-5 mucolipidosis type IV-related lysosomal dysfunction by the inactivation of an ABC transporter in C. elegans. ( 16943270 )
2006
38
Lysosomal exocytosis is impaired in mucolipidosis type IV. ( 16914343 )
2006
39
The frequency of mucolipidosis type IV in the Ashkenazi Jewish population and the identification of 3 novel MCOLN1 mutations. ( 16287144 )
2005
40
Molecular pathophysiology of mucolipidosis type IV: pH dysregulation of the mucolipin-1 cation channel. ( 14749347 )
2004
41
Functional links between mucolipin-1 and Ca2+-dependent membrane trafficking in mucolipidosis IV. ( 15336987 )
2004
42
Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of mucolipidosis IV. ( 15523648 )
2004
43
Mucolipidosis type IV a rare genetic disorder: new addition to the Ashkenazi Jewish panel. ( 15236718 )
2004
44
Diffuse neuroaxonal involvement in mucolipidosis IV as assessed by proton magnetic resonance spectroscopic imaging. ( 12940649 )
2003
45
Electronegative electroretinogram in mucolipidosis IV. ( 11786056 )
2002
46
Identification and characterization of the single channel function of human mucolipin-1 implicated in mucolipidosis type IV, a disorder affecting the lysosomal pathway. ( 12459486 )
2002
47
Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population. ( 11845410 )
2002
48
The molecular basis of mucolipidosis type IV. ( 12125810 )
2002
49
Noninvasive diagnosis and ophthalmic features of mucolipidosis type IV. ( 11874766 )
2002
50
Mucolipidosis IV: novel mutation and diverse ultrastructural spectrum in the skin. ( 12368990 )
2002

Variations for Mucolipidosis Iv

UniProtKB/Swiss-Prot genetic disease variations for Mucolipidosis Iv:

75
# Symbol AA change Variation ID SNP ID
1 MCOLN1 p.Leu106Pro VAR_019369 rs797044825
2 MCOLN1 p.Thr232Pro VAR_019370 rs767122713
3 MCOLN1 p.Asp362Tyr VAR_019371 rs121908372
4 MCOLN1 p.Val446Leu VAR_019373 rs754097561
5 MCOLN1 p.Leu447Pro VAR_019374 rs797044827
6 MCOLN1 p.Phe465Leu VAR_019375 rs797044828
7 MCOLN1 p.Arg403Cys VAR_038380 rs121908374

ClinVar genetic disease variations for Mucolipidosis Iv:

6
(show top 50) (show all 152)
# Gene Variation Type Significance SNP ID Assembly Location
1 MCOLN1 NM_020533.2(MCOLN1): c.406-2A> G single nucleotide variant Pathogenic rs104886461 GRCh37 Chromosome 19, 7591645: 7591645
2 MCOLN1 NM_020533.2(MCOLN1): c.406-2A> G single nucleotide variant Pathogenic rs104886461 GRCh38 Chromosome 19, 7526759: 7526759
3 MCOLN1 NG_015806.1: g.4127_10560del6434 deletion Pathogenic GRCh37 Chromosome 19, 7586622: 7593055
4 MCOLN1 NG_015806.1: g.4127_10560del6434 deletion Pathogenic GRCh38 Chromosome 19, 7521736: 7528169
5 MCOLN1 NM_020533.2(MCOLN1): c.964C> T (p.Arg322Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908371 GRCh37 Chromosome 19, 7593569: 7593569
6 MCOLN1 NM_020533.2(MCOLN1): c.964C> T (p.Arg322Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908371 GRCh38 Chromosome 19, 7528683: 7528683
7 MCOLN1 MCOLN1, 3-BP DEL, 1346CTT deletion Pathogenic
8 MCOLN1 NM_020533.2(MCOLN1): c.1084G> T (p.Asp362Tyr) single nucleotide variant Likely pathogenic rs121908372 GRCh37 Chromosome 19, 7593806: 7593806
9 MCOLN1 NM_020533.2(MCOLN1): c.1084G> T (p.Asp362Tyr) single nucleotide variant Likely pathogenic rs121908372 GRCh38 Chromosome 19, 7528920: 7528920
10 MCOLN1 NM_020533.2(MCOLN1): c.304C> T (p.Arg102Ter) single nucleotide variant Pathogenic rs121908373 GRCh37 Chromosome 19, 7591391: 7591391
11 MCOLN1 NM_020533.2(MCOLN1): c.304C> T (p.Arg102Ter) single nucleotide variant Pathogenic rs121908373 GRCh38 Chromosome 19, 7526505: 7526505
12 MCOLN1 NM_020533.2(MCOLN1): c.1207C> T (p.Arg403Cys) single nucleotide variant Pathogenic rs121908374 GRCh37 Chromosome 19, 7594059: 7594059
13 MCOLN1 NM_020533.2(MCOLN1): c.1207C> T (p.Arg403Cys) single nucleotide variant Pathogenic rs121908374 GRCh38 Chromosome 19, 7529173: 7529173
14 MCOLN1 MCOLN1, 93-BP INS, NT236 insertion Pathogenic
15 MCOLN1 MCOLN1, 1704A-T single nucleotide variant Pathogenic
16 MCOLN1 NM_020533.2(MCOLN1): c.163_197del35insTCA (p.Lys55Serfs) indel Pathogenic rs797044820 GRCh38 Chromosome 19, 7525092: 7525126
17 MCOLN1 NM_020533.2(MCOLN1): c.163_197del35insTCA (p.Lys55Serfs) indel Pathogenic rs797044820 GRCh37 Chromosome 19, 7589978: 7590012
18 MCOLN1 NM_020533.2(MCOLN1): c.235C> T (p.Gln79Ter) single nucleotide variant Pathogenic rs797044832 GRCh38 Chromosome 19, 7525164: 7525164
19 MCOLN1 NM_020533.2(MCOLN1): c.235C> T (p.Gln79Ter) single nucleotide variant Pathogenic rs797044832 GRCh37 Chromosome 19, 7590050: 7590050
20 MCOLN1 NM_020533.2(MCOLN1) insertion Pathogenic GRCh38 Chromosome 19, 7525165: 7525166
21 MCOLN1 NM_020533.2(MCOLN1) insertion Pathogenic GRCh37 Chromosome 19, 7590051: 7590052
22 MCOLN1 NM_020533.2(MCOLN1): c.302_303delTC (p.Phe101Serfs) deletion Pathogenic rs797044830 GRCh38 Chromosome 19, 7526503: 7526504
23 MCOLN1 NM_020533.2(MCOLN1): c.302_303delTC (p.Phe101Serfs) deletion Pathogenic rs797044830 GRCh37 Chromosome 19, 7591389: 7591390
24 MCOLN1 NM_020533.2(MCOLN1): c.317T> C (p.Leu106Pro) single nucleotide variant Pathogenic rs797044825 GRCh38 Chromosome 19, 7526518: 7526518
25 MCOLN1 NM_020533.2(MCOLN1): c.317T> C (p.Leu106Pro) single nucleotide variant Pathogenic rs797044825 GRCh37 Chromosome 19, 7591404: 7591404
26 MCOLN1 NM_020533.2(MCOLN1): c.473_474delCC (p.Thr158Lysfs) deletion Pathogenic rs797044821 GRCh38 Chromosome 19, 7526828: 7526829
27 MCOLN1 NM_020533.2(MCOLN1): c.473_474delCC (p.Thr158Lysfs) deletion Pathogenic rs797044821 GRCh37 Chromosome 19, 7591714: 7591715
28 MCOLN1 NM_020533.2(MCOLN1): c.497G> T (p.Cys166Phe) single nucleotide variant Pathogenic rs797044826 GRCh37 Chromosome 19, 7591738: 7591738
29 MCOLN1 NM_020533.2(MCOLN1): c.497G> T (p.Cys166Phe) single nucleotide variant Pathogenic rs797044826 GRCh38 Chromosome 19, 7526852: 7526852
30 MCOLN1 NM_020533.2(MCOLN1): c.514C> T (p.Arg172Ter) single nucleotide variant Likely pathogenic rs797044824 GRCh37 Chromosome 19, 7591755: 7591755
31 MCOLN1 NM_020533.2(MCOLN1): c.514C> T (p.Arg172Ter) single nucleotide variant Likely pathogenic rs797044824 GRCh38 Chromosome 19, 7526869: 7526869
32 MCOLN1 NM_020533.2(MCOLN1): c.694A> C (p.Thr232Pro) single nucleotide variant Pathogenic rs767122713 GRCh37 Chromosome 19, 7592763: 7592763
33 MCOLN1 NM_020533.2(MCOLN1): c.694A> C (p.Thr232Pro) single nucleotide variant Pathogenic rs767122713 GRCh38 Chromosome 19, 7527877: 7527877
34 MCOLN1 NM_020533.2(MCOLN1): c.920delT (p.Leu307Profs) deletion Likely pathogenic rs755042147 GRCh38 Chromosome 19, 7528639: 7528639
35 MCOLN1 NM_020533.2(MCOLN1): c.920delT (p.Leu307Profs) deletion Likely pathogenic rs755042147 GRCh37 Chromosome 19, 7593525: 7593525
36 MCOLN1 NM_020533.2(MCOLN1): c.1210dupT (p.Tyr404Leufs) duplication Pathogenic rs797044822 GRCh38 Chromosome 19, 7529176: 7529176
37 MCOLN1 NM_020533.2(MCOLN1): c.1210dupT (p.Tyr404Leufs) duplication Pathogenic rs797044822 GRCh37 Chromosome 19, 7594062: 7594062
38 MCOLN1 NM_020533.2(MCOLN1): c.1221_1223delCTT (p.Phe408del) deletion Pathogenic rs797044817 GRCh38 Chromosome 19, 7529187: 7529189
39 MCOLN1 NM_020533.2(MCOLN1): c.1221_1223delCTT (p.Phe408del) deletion Pathogenic rs797044817 GRCh37 Chromosome 19, 7594073: 7594075
40 MCOLN1 NM_020533.2(MCOLN1): c.1336G> T (p.Val446Leu) single nucleotide variant Pathogenic rs754097561 GRCh38 Chromosome 19, 7529689: 7529689
41 MCOLN1 NM_020533.2(MCOLN1): c.1336G> T (p.Val446Leu) single nucleotide variant Pathogenic rs754097561 GRCh37 Chromosome 19, 7594575: 7594575
42 MCOLN1 NM_020533.2(MCOLN1): c.1340T> C (p.Leu447Pro) single nucleotide variant Pathogenic rs797044827 GRCh38 Chromosome 19, 7529693: 7529693
43 MCOLN1 NM_020533.2(MCOLN1): c.1340T> C (p.Leu447Pro) single nucleotide variant Pathogenic rs797044827 GRCh37 Chromosome 19, 7594579: 7594579
44 MCOLN1 NM_020533.2(MCOLN1): c.1388G> A (p.Cys463Tyr) single nucleotide variant Pathogenic rs797044829 GRCh37 Chromosome 19, 7595200: 7595200
45 MCOLN1 NM_020533.2(MCOLN1): c.1388G> A (p.Cys463Tyr) single nucleotide variant Pathogenic rs797044829 GRCh38 Chromosome 19, 7530314: 7530314
46 MCOLN1 NM_020533.2(MCOLN1): c.1395C> G (p.Phe465Leu) single nucleotide variant Pathogenic rs797044828 GRCh38 Chromosome 19, 7530321: 7530321
47 MCOLN1 NM_020533.2(MCOLN1): c.1395C> G (p.Phe465Leu) single nucleotide variant Pathogenic rs797044828 GRCh37 Chromosome 19, 7595207: 7595207
48 MCOLN1 NM_020533.2(MCOLN1): c.1406A> G (p.Asn469Ser) single nucleotide variant Pathogenic rs797044818 GRCh38 Chromosome 19, 7530332: 7530332
49 MCOLN1 NM_020533.2(MCOLN1): c.1406A> G (p.Asn469Ser) single nucleotide variant Pathogenic rs797044818 GRCh37 Chromosome 19, 7595218: 7595218
50 MCOLN1 NM_020533.2(MCOLN1): c.1463_1464insGGCCGCAGCAG (p.Ser488Argfs) duplication Pathogenic rs797044823 GRCh38 Chromosome 19, 7530379: 7530389

Expression for Mucolipidosis Iv

Search GEO for disease gene expression data for Mucolipidosis Iv.

Pathways for Mucolipidosis Iv

Pathways related to Mucolipidosis Iv according to KEGG:

37
# Name Kegg Source Accession
1 Lysosome hsa04142

Pathways related to Mucolipidosis Iv according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.64 CTSA ETFA GALNS GLB1 GM2A HEXA
2
Show member pathways
12.14 GLB1 HEXA HEXB
3
Show member pathways
12.04 CTSA GLB1 GM2A HEXA HEXB PSAP
4
Show member pathways
11.49 GLB1 HEXA HEXB
5 11.32 CTSA GALNS GLB1 GM2A HEXA HEXB
6
Show member pathways
11 HEXA HEXB
7
Show member pathways
10.94 GLB1 HEXA HEXB
8 10.69 GLB1 HEXA HEXB
9
Show member pathways
10.56 GALNS GLB1 HEXA HEXB

GO Terms for Mucolipidosis Iv

Cellular components related to Mucolipidosis Iv according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.88 CTSA GALNS GLB1 GM2A HEXB PSAP
2 extracellular exosome GO:0070062 9.86 CTSA ETFA GALNS GLB1 GM2A HEXA
3 intracellular membrane-bounded organelle GO:0043231 9.73 CTSA GLB1 MTOR PSAP
4 lysosomal membrane GO:0005765 9.62 CTSA MCOLN1 MTOR PSAP
5 azurophil granule lumen GO:0035578 9.55 CTSA GALNS GLB1 GM2A HEXB
6 lysosomal lumen GO:0043202 9.5 CTSA GALNS GLB1 GM2A HEXA HEXB
7 azurophil granule GO:0042582 9.37 HEXA HEXB
8 lysosome GO:0005764 9.28 CTSA GALNS GLB1 GM2A HEXA HEXB

Biological processes related to Mucolipidosis Iv according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.76 GALNS GLB1 HEXA HEXB
2 carbohydrate metabolic process GO:0005975 9.69 GLB1 HEXA HEXB
3 neutrophil degranulation GO:0043312 9.63 CTSA GALNS GLB1 GM2A HEXB PSAP
4 neuromuscular process controlling balance GO:0050885 9.52 GM2A HEXB
5 positive regulation of catalytic activity GO:0043085 9.5 CTSA GM2A PSAP
6 sphingolipid metabolic process GO:0006665 9.49 GM2A PSAP
7 lipid storage GO:0019915 9.48 GM2A HEXB
8 hyaluronan catabolic process GO:0030214 9.43 HEXA HEXB
9 chondroitin sulfate catabolic process GO:0030207 9.4 HEXA HEXB
10 oligosaccharide catabolic process GO:0009313 9.37 GM2A HEXB
11 ganglioside catabolic process GO:0006689 9.26 GM2A HEXB
12 keratan sulfate catabolic process GO:0042340 9.26 GALNS GLB1 HEXA HEXB
13 glycosphingolipid metabolic process GO:0006687 9.1 CTSA GLB1 GM2A HEXA HEXB PSAP

Molecular functions related to Mucolipidosis Iv according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.88 CTSA GALNS GLB1 GM2A HEXA HEXB
2 hydrolase activity, acting on glycosyl bonds GO:0016798 9.54 GLB1 HEXA HEXB
3 acetylglucosaminyltransferase activity GO:0008375 9.46 HEXA HEXB
4 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.43 GLB1 HEXB
5 enzyme activator activity GO:0008047 9.33 CTSA GM2A PSAP
6 exo-alpha-sialidase activity GO:0004308 9.32 CTSA GLB1
7 beta-galactosidase activity GO:0004565 9.26 GLB1 PSAP
8 N-acetyl-beta-D-galactosaminidase activity GO:0102148 8.96 HEXA HEXB
9 beta-N-acetylhexosaminidase activity GO:0004563 8.8 GM2A HEXA HEXB

Sources for Mucolipidosis Iv

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30