MCID: MCL013
MIFTS: 67

Mucolipidosis Iv

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

Aliases & Classifications for Mucolipidosis Iv

MalaCards integrated aliases for Mucolipidosis Iv:

Name: Mucolipidosis Iv 53 23 71 36 13
Mucolipidosis Type Iv 12 49 24 55 71 28 69
Gangliosidosis 12 72 49 51 14
Ganglioside Sialidase Deficiency 49 24 28
Sialolipidosis 53 24 71
Ml4 53 24 71
Mucolipidosis Type 4 72 49
Gangliosidoses 41 69
Mliv 24 71
Ganglioside Neuraminidase Deficiency 49
Type Iv Mucolipidosis 51
Berman Syndrome 49
Mucolipidosis 4 71
Ml Iv 53
Ml 4 49

Characteristics:

Orphanet epidemiological data:

55
mucolipidosis type iv
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Sweden),1-9/100000; Age of onset: Infancy; Age of death: adult;

OMIM:

53
Inheritance:
autosomal recessive

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


HPO:

31
mucolipidosis iv:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mucolipidosis Iv

NIH Rare Diseases : 49 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. Last updated: 1/21/2016

MalaCards based summary : Mucolipidosis Iv, also known as mucolipidosis type iv, is related to gangliosidosis gm1 and gm2-gangliosidosis, ab variant, and has symptoms including ataxia, photophobia and nystagmus. An important gene associated with Mucolipidosis Iv is MCOLN1 (Mucolipin 1), and among its related pathways/superpathways are Lysosome and Chondroitin sulfate/dermatan sulfate 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 growth/size/body region and behavior/neurological

OMIM : 53 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 : 71 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.

Genetics Home Reference : 24 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.

Wikipedia : 72 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 74)
# Related Disease Score Top Affiliating Genes
1 gangliosidosis gm1 33.8 GLB1 HEXA PSAP
2 gm2-gangliosidosis, ab variant 31.9 GM2A MGEA5
3 sandhoff disease 31.2 GM2A HEXA HEXB HHEX MGEA5
4 gangliosidosis gm2 30.1 CTSA ETFA GLB1 GM2A HEXA HEXB
5 cerebral lipidosis 29.9 GLB1 HEXA
6 tay-sachs disease 29.6 CTSA ETFA GM2A HEXA HEXB HHEX
7 galactosialidosis 29.4 CTSA GLB1
8 metachromatic leukodystrophy 29.3 HEXA PSAP
9 lysosomal storage disease 28.9 CTSA GLB1 HEXA HEXB MCOLN1
10 gm1-gangliosidosis, type iii 12.2
11 gm1-gangliosidosis, type ii 12.2
12 gm1-gangliosidosis, type i 12.2
13 gm2 gangliosidosis, 0 variant 12.0
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 dystonia 10.2
22 mucopolysaccharidosis, type vii 10.1 GLB1 HEXA
23 motor neuron disease 10.1
24 mannosidosis, alpha b, lysosomal 10.0 CTSA HEXA
25 mongolian spot 10.0
26 tièche-jadassohn nevus 10.0
27 blood group, i system 10.0
28 cerebritis 10.0
29 fucosidosis 9.9 CTSA HEXA
30 retinitis 9.9
31 mucopolysaccharidosis iv 9.9 CTSA GLB1
32 mannosidosis, beta a, lysosomal 9.9 CTSA HEXA
33 hepatitis 9.8
34 dementia 9.8
35 neuronal ceroid lipofuscinosis 9.8
36 muscular atrophy 9.8
37 episodic pain syndrome, familial, 1 9.8
38 muscle disorders 9.8
39 lipid storage disease 9.8 GLB1 HEXA MCOLN1 PSAP
40 scheie syndrome 9.8 CTSA GLB1 HEXA
41 inclusion-cell disease 9.7 CTSA GLB1 PSAP
42 glycoproteinosis 9.7 CTSA GLB1 PSAP
43 cataract 32, multiple types 9.7
44 prader-willi syndrome 9.7
45 friedreich ataxia 1 9.7
46 hydrocephalus, normal-pressure 9.7
47 insulin-like growth factor i 9.7
48 dihydropyrimidine dehydrogenase deficiency 9.7
49 fabry disease 9.7
50 ataxia and polyneuropathy, adult-onset 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:

53
Head And Neck Eyes:
photophobia
optic atrophy
strabismus
corneal clouding
corneal opacities
more
Head And Neck Head:
microcephaly

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
Neurologic Central Nervous System:
dystonia
hyperreflexia
dysplastic corpus callosum
hypotonia
mental retardation
more
Abdomen Gastroin testinal:
achlorhydria


Clinical features from OMIM:

252650

Human phenotypes related to Mucolipidosis Iv:

55 31 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 55 31 frequent (33%) Frequent (79-30%) HP:0001251
2 photophobia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000613
3 nystagmus 55 31 frequent (33%) Frequent (79-30%) HP:0000639
4 intellectual disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001249
5 muscular hypotonia 55 31 frequent (33%) Frequent (79-30%) HP:0001252
6 gait disturbance 55 31 hallmark (90%) Very frequent (99-80%) HP:0001288
7 hyperreflexia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001347
8 eeg abnormality 55 31 frequent (33%) Frequent (79-30%) HP:0002353
9 coarse facial features 55 31 occasional (7.5%) Occasional (29-5%) HP:0000280
10 corneal opacity 55 31 hallmark (90%) Very frequent (99-80%) HP:0007957
11 microcephaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0000252
12 abnormality of retinal pigmentation 55 31 occasional (7.5%) Occasional (29-5%) HP:0007703
13 retinopathy 55 31 hallmark (90%) Very frequent (99-80%) HP:0000488
14 palmoplantar keratoderma 55 31 occasional (7.5%) Occasional (29-5%) HP:0000982
15 aplasia/hypoplasia of the abdominal wall musculature 55 31 hallmark (90%) Very frequent (99-80%) HP:0010318
16 strabismus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000486
17 everted lower lip vermilion 55 31 occasional (7.5%) Occasional (29-5%) HP:0000232
18 abnormal electroretinogram 55 31 occasional (7.5%) Occasional (29-5%) HP:0000512
19 microdontia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000691
20 absent speech 55 31 hallmark (90%) Very frequent (99-80%) HP:0001344
21 genu recurvatum 55 31 occasional (7.5%) Occasional (29-5%) HP:0002816
22 abnormality of ganglioside metabolism 55 31 hallmark (90%) Very frequent (99-80%) HP:0004345
23 biparietal narrowing 55 31 occasional (7.5%) Occasional (29-5%) HP:0004422
24 abnormal nasal morphology 55 31 occasional (7.5%) Occasional (29-5%) HP:0005105
25 developmental stagnation 55 31 hallmark (90%) Very frequent (99-80%) HP:0007281
26 abnormality of mucopolysaccharide metabolism 55 31 hallmark (90%) Very frequent (99-80%) HP:0011020
27 dystonia 31 HP:0001332
28 behavioral abnormality 55 Very frequent (99-80%)
29 global developmental delay 31 HP:0001263
30 optic atrophy 31 HP:0000648
31 spastic tetraplegia 31 HP:0002510
32 opacification of the corneal stroma 31 HP:0007759
33 babinski sign 31 HP:0003487
34 cerebellar atrophy 31 HP:0001272
35 generalized hypotonia 31 HP:0001290
36 dysplastic corpus callosum 31 HP:0006989
37 cerebral dysmyelination 31 HP:0007266
38 progressive retinal degeneration 31 HP:0007893
39 abnormality of abdomen morphology 31 HP:0001438
40 decreased light- and dark-adapted electroretinogram amplitude 31 HP:0000654

UMLS symptoms related to Mucolipidosis Iv:


photophobia

MGI Mouse Phenotypes related to Mucolipidosis Iv:

43 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.13 CTSA GLB1 HEXA HEXB HHEX MCOLN1
2 behavior/neurological MP:0005386 10.11 CTSA GLB1 GM2A HEXA HEXB MCOLN1
3 cellular MP:0005384 10.04 GLB1 HEXB HHEX MGEA5 MTOR PSAP
4 homeostasis/metabolism MP:0005376 10.03 GLB1 HEXA HEXB HHEX MCOLN1 MTOR
5 hematopoietic system MP:0005397 10 CTSA GLB1 HEXB HHEX MCOLN1 MTOR
6 mortality/aging MP:0010768 9.97 CTSA GLB1 HEXA HEXB HHEX MCOLN1
7 immune system MP:0005387 9.95 CTSA GLB1 HEXB HHEX MCOLN1 MTOR
8 liver/biliary system MP:0005370 9.85 HHEX PSAP CTSA GLB1 HEXA HEXB
9 nervous system MP:0003631 9.76 GLB1 GM2A HEXA HEXB HHEX MCOLN1
10 muscle MP:0005369 9.65 HEXB HHEX MCOLN1 MTOR PSAP
11 renal/urinary system MP:0005367 9.5 CTSA GLB1 HEXA HEXB MCOLN1 MTOR
12 respiratory system MP:0005388 9.02 CTSA HHEX MGEA5 MTOR PSAP

Drugs & Therapeutics for Mucolipidosis Iv

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

(show top 50) (show all 363)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-02-2 5743
2 Parecoxib Approved Phase 4 198470-84-7
3
Bupivacaine Approved, Investigational Phase 4,Phase 1 38396-39-3, 2180-92-9 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 43805 6857599 5310940 9887054
6
Dopamine Approved Phase 4,Phase 3,Phase 1 51-61-6, 62-31-7 681
7
Tranexamic Acid Approved Phase 4,Phase 3 1197-18-8 5526
8
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 83-43-2 6741
9
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 50-24-8 5755
10
Acetaminophen Approved Phase 4,Phase 2,Phase 3 103-90-2 1983
11
Haloperidol Approved Phase 4,Phase 3 52-86-8 3559
12
Ketoprofen Approved, Vet_approved Phase 4 22071-15-4 3825
13
Morphine Approved, Investigational Phase 4,Phase 2,Phase 3 57-27-2 5288826
14
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
15 Racepinephrine Approved Phase 4 329-65-7
16
Carboplatin Approved Phase 4,Phase 3,Phase 2,Phase 1 41575-94-4 10339178 38904 498142
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 59467-70-8 4192
19
Propofol Approved, Investigational, Vet_approved Phase 4,Phase 3 2078-54-8 4943
20
Clonidine Approved Phase 4 4205-90-7 2803
21
Alfentanil Approved, Illicit Phase 4 71195-58-9 51263
22
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4,Phase 3 437-38-7 3345
23
Remifentanil Approved Phase 4,Phase 3 132875-61-7 60815
24
Lidocaine Approved, Vet_approved Phase 4,Phase 2 137-58-6 3676
25
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
26
Thiopental Approved, Vet_approved Phase 4 76-75-5 3000715
27
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
28
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
29
Ondansetron Approved Phase 4,Phase 3,Phase 2 99614-02-5 4595
30
Sufentanil Approved, Investigational Phase 4,Phase 3 56030-54-7 41693
31
Prochlorperazine Approved, Vet_approved Phase 4,Phase 3 1984-02-6, 58-38-8 4917
32
Cisplatin Approved Phase 4,Phase 3,Phase 1,Phase 2 15663-27-1 2767 441203 84093
33
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 4,Phase 3 7487-88-9 24083
34
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
35
Diphenhydramine Approved, Investigational Phase 4 58-73-1, 147-24-0 3100
36
Histamine Approved, Investigational Phase 4 51-45-6, 75614-87-8 774
37
Promethazine Approved, Investigational Phase 4 60-87-7 4927
38
Oxytocin Approved, Vet_approved Phase 4 50-56-6 53477758 439302
39
Triamcinolone Approved, Vet_approved Phase 4,Phase 1 124-94-7 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
43 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Phase 1
44 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 2,Phase 1
45 Autonomic Agents Phase 4,Phase 3,Phase 2,Phase 1
46 BB 1101 Phase 4,Phase 3,Phase 2,Phase 1
47 Dexamethasone acetate Phase 4,Phase 3,Phase 2,Phase 1 1177-87-3
48 Gastrointestinal Agents Phase 4,Phase 3,Phase 2,Phase 1
49 glucocorticoids Phase 4,Phase 3,Phase 2,Phase 1
50 HIV Protease Inhibitors Phase 4,Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 145)

# 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 Study of Hyoscine N Butyl Bromide in Active Management of Labor Completed NCT02098889 Phase 4 hyoscine-N-butyl bromide(HBB);Saline
5 Safety of Orectalip® (Oxaliplatin) as Adjuvant Treatment for High-risk Stage-Ⅱ Colorectal Cancer Completed NCT02284529 Phase 4 Orectalip
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 Topical Interferon Alfa 2b and Mitomycin C in Conjunctival-Corneal Intraepithelial Neoplasia Completed NCT02199327 Phase 4 Mitomycin C;Interferon Alfa-2b
16 Intranasal Midazolam for Treatment of Anxiety in Children Undergoing Suturing in the Pediatric Emergency Department Completed NCT02618772 Phase 4 Midazolam;Saline
17 Effect of IV Acetaminophen on Patients in the Neurocritical Care Unit Completed NCT01948505 Phase 4 Intravenous acetaminophen;Placebo for IV acetaminophen
18 Analgesic Benefits of Perineural Versus Intravenous Dexamethasone in Patients Receiving Sciatic Nerve Block Completed NCT01616173 Phase 4 Dexamethasone;Dexamethasone;Saline
19 Alfentanil Versus Remifentanil in Patient-controlled Sedation During Endoscopic Retrograde Cholangiopancreatography (ERCP) Completed NCT01350037 Phase 4 alfentanil;remifentanil
20 The Prevention of Pain Associated With Rocuronium Injection Completed NCT02524743 Phase 4 acetaminophen;Lidocaine
21 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
22 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
23 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
24 Intranasal Sufentanil Versus Intravenous Morphine for the Management of Acute Pain Recruiting NCT03224039 Phase 4 Sufentanil;Normal saline;Morphine
25 Preloading Magnesium Attenuate Cisplatin-induced Nephrotoxicity Recruiting NCT02481518 Phase 4 Magnesium
26 Ketorolac on Posterior Thoracolumbar Spinal Fusions Recruiting NCT03278691 Phase 4 Saline;Ketorolac
27 Effect of Albumin Administration on Vasopressor Duration in Resolving Septic Shock Recruiting NCT02716597 Phase 4 25% Albumin;Placebo
28 Steroids and Microcirculation In Cardiac Surgery Recruiting NCT02798068 Phase 4 Solu-medrol or placebo administration
29 IV Versus IM Administration of Oxytocin for Postpartum Bleeding Recruiting NCT02954068 Phase 4 IV Oxytocin + IM placebo;IM Oxytocin + IV placebo
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 Effects of Articaine Computer-controlled and Conventional Delivery for Anterior and Middle Superior Alveolar Nerve Block for Tooth Extraction Active, not recruiting NCT03225326 Phase 4 Computer controlled 4% articaine delivery by Anaeject;Conventional 4% articaine delivery by carpule syringe
33 Diphenhydramine as an Adjunctive Sedative in Patients on Chronic Opioids Active, not recruiting NCT01967433 Phase 4 Diphenhydramine;Placebo
34 Effect of Furosemide on Confirmation of Ureteral Patency During Routine Cystoscopy Not yet recruiting NCT02960412 Phase 4 furosemide;Normal Saline
35 Tranexamic Acid for Preventing Postpartum Hemorrhage After Cesarean Section Not yet recruiting NCT02936661 Phase 4 Tranexamic Acid;Placebo
36 Efficacy of IV Acetaminophen Versus Oral Acetaminophen Not yet recruiting NCT03365622 Phase 4 acetaminophen;Acetaminophen;Placebos;Placebo Oral Tablet
37 Intermittent Versus Continuous Infusion Meropenem in Cystic Fibrosis Withdrawn NCT02048163 Phase 4
38 Use of Dexmedetomidine in Children Undergoing Oral Maxillofacial Surgery to Decrease Emergence Delirium Withdrawn NCT01353378 Phase 4 dexmedetomidine
39 Prochlorperazine Versus Prochlorperazine & Ketorolac in Treatment of Pediatric Migraine in the Emergency Department Withdrawn NCT01534806 Phase 4 Ketorolac;Placebo
40 Trial of FFP+HDMP+Rituximab for Ultra-high Risk Chronic Lymphocytic Leukemia Unknown status NCT01670812 Phase 3 FFP+HDMP+Rituximab
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 28 MCOLN1
2 Ganglioside Sialidase Deficiency 28

Anatomical Context for Mucolipidosis Iv

MalaCards organs/tissues related to Mucolipidosis Iv:

38
Eye, Lung, Bone, Brain, Liver, Skin, B Cells

Publications for Mucolipidosis Iv

Articles related to Mucolipidosis Iv:

(show top 50) (show all 110)
# Title Authors Year
1
Elucidating the behavioral phenotype of patients affected with mucolipidosis IV: What can we learn from the parents? ( 28392473 )
2017
2
Retinal Dystrophy and Optic Nerve Pathology inA the Mouse Model of Mucolipidosis IV. ( 26608452 )
2016
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
Impaired myelination and reduced brain ferric iron in the mouse model of mucolipidosis IV. ( 26398942 )
2015
6
Mucolipidosis type IV protein TRPML1-dependent lysosome formation. ( 25491304 )
2015
7
The mucolipidosis IV Ca2+ channel TRPML1 (MCOLN1) is regulated by the TOR kinase. ( 26195823 )
2015
8
A novel homozygous MCOLN1 double mutant allele leading to TRP channel domain ablation underlies Mucolipidosis IV in an Italian Child. ( 25156245 )
2014
9
Behavioral deficits, early gliosis, dysmyelination and synaptic dysfunction in a mouse model of mucolipidosis IV. ( 25200117 )
2014
10
A small molecule restores function to TRPML1 mutant isoforms responsible for mucolipidosis type IV. ( 25119295 )
2014
11
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
12
Quantitative neuroimaging in mucolipidosis type IV. ( 24332805 )
2013
13
A novel mutation in a large family causes a unique phenotype of Mucolipidosis IV. ( 23685283 )
2013
14
Systematic screens for proteins that interact with the mucolipidosis type IV protein TRPML1. ( 23418601 )
2013
15
LAPTMs regulate lysosomal function and interact with mucolipin 1: new clues for understanding mucolipidosis type IV. ( 21224396 )
2011
16
Mucolipidosis type IV: an update. ( 21763169 )
2011
17
Mucolipidosis type IV: a subtle pediatric neurodegenerative disorder. ( 20159435 )
2010
18
Zinc dyshomeostasis is linked with the loss of mucolipidosis IV-associated TRPML1 ion channel. ( 20864526 )
2010
19
Mucolipidosis type IV: the effect of increased lysosomal pH on the abnormal lysosomal storage. ( 19247216 )
2009
20
Chaperone-mediated autophagy is defective in mucolipidosis type IV. ( 19117012 )
2009
21
What's your diagnosis? Mucolipidosis IV (Berman syndrome). ( 19496492 )
2009
22
Mucolipidosis type IV in a Turkish boy associated with a novel MCOLN1 mutation. ( 19006653 )
2009
23
Neuropathology of the Mcoln1(-/-) knockout mouse model of mucolipidosis type IV. ( 19151629 )
2009
24
A variant form of mucolipidosis IV: report on 4 patients from the Indian subcontinent. ( 19073851 )
2008
25
Mucolipidosis type IV: the importance of functional lysosomes for efficient autophagy. ( 18635948 )
2008
26
Autophagic dysfunction in mucolipidosis type IV patients. ( 18550655 )
2008
27
Membrane traffic and turnover in TRP-ML1-deficient cells: a revised model for mucolipidosis type IV pathogenesis. ( 18504305 )
2008
28
Motor deficit in a Drosophila model of mucolipidosis type IV due to defective clearance of apoptotic cells. ( 19041749 )
2008
29
Gene expression profiling of mucolipidosis type IV fibroblasts reveals deregulation of genes with relevant functions in lysosome physiology. ( 18258208 )
2008
30
Neurologic, gastric, and opthalmologic pathologies in a murine model of mucolipidosis type IV. ( 17924347 )
2007
31
Mucolipidosis IV: report of a case with ocular restricted phenotype caused by leaky splice mutation. ( 17239335 )
2007
32
Mitochondrial aberrations in mucolipidosis Type IV. ( 17056595 )
2006
33
Basis of lethality in C. elegans lacking CUP-5, the Mucolipidosis Type IV orthologue. ( 16530747 )
2006
34
Rapid one-step carrier detection assay of mucolipidosis IV mutations in the Ashkenazi Jewish population. ( 16645217 )
2006
35
Suppression of the cup-5 mucolipidosis type IV-related lysosomal dysfunction by the inactivation of an ABC transporter in C. elegans. ( 16943270 )
2006
36
Lysosomal exocytosis is impaired in mucolipidosis type IV. ( 16914343 )
2006
37
The frequency of mucolipidosis type IV in the Ashkenazi Jewish population and the identification of 3 novel MCOLN1 mutations. ( 16287144 )
2005
38
Molecular pathophysiology of mucolipidosis type IV: pH dysregulation of the mucolipin-1 cation channel. ( 14749347 )
2004
39
Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of mucolipidosis IV. ( 15523648 )
2004
40
Mucolipidosis type IV a rare genetic disorder: new addition to the Ashkenazi Jewish panel. ( 15236718 )
2004
41
Functional links between mucolipin-1 and Ca2+-dependent membrane trafficking in mucolipidosis IV. ( 15336987 )
2004
42
Diffuse neuroaxonal involvement in mucolipidosis IV as assessed by proton magnetic resonance spectroscopic imaging. ( 12940649 )
2003
43
The molecular basis of mucolipidosis type IV. ( 12125810 )
2002
44
Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population. ( 11845410 )
2002
45
Electronegative electroretinogram in mucolipidosis IV. ( 11786056 )
2002
46
The neurogenetics of mucolipidosis type IV. ( 12182165 )
2002
47
Mucolipidosis IV: novel mutation and diverse ultrastructural spectrum in the skin. ( 12368990 )
2002
48
Noninvasive diagnosis and ophthalmic features of mucolipidosis type IV. ( 11874766 )
2002
49
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
50
Rapid detection of the two common mutations in Ashkenazi Jewish patients with mucolipidosis type IV. ( 11551108 )
2001

Variations for Mucolipidosis Iv

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

71
# 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 all 40)
# 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 NG_015806.1: g.4127_10560del6434 deletion Pathogenic GRCh37 Chromosome 19, 7586622: 7593055
3 MCOLN1 NM_020533.2(MCOLN1): c.964C> T (p.Arg322Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908371 GRCh37 Chromosome 19, 7593569: 7593569
4 MCOLN1 MCOLN1, 3-BP DEL, 1346CTT deletion Pathogenic
5 MCOLN1 NM_020533.2(MCOLN1): c.1084G> T (p.Asp362Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs121908372 GRCh37 Chromosome 19, 7593806: 7593806
6 MCOLN1 NM_020533.2(MCOLN1): c.304C> T (p.Arg102Ter) single nucleotide variant Pathogenic rs121908373 GRCh37 Chromosome 19, 7591391: 7591391
7 MCOLN1 NM_020533.2(MCOLN1): c.1207C> T (p.Arg403Cys) single nucleotide variant Pathogenic rs121908374 GRCh37 Chromosome 19, 7594059: 7594059
8 MCOLN1 MCOLN1, 93-BP INS, NT236 insertion Pathogenic
9 MCOLN1 MCOLN1, 1704A-T single nucleotide variant Pathogenic
10 MCOLN1 NM_020533.2(MCOLN1): c.163_197del35insTCA (p.Lys55Serfs) indel Pathogenic rs797044820 GRCh38 Chromosome 19, 7525092: 7525126
11 MCOLN1 NM_020533.2(MCOLN1): c.235C> T (p.Gln79Ter) single nucleotide variant Pathogenic rs797044832 GRCh38 Chromosome 19, 7525164: 7525164
12 MCOLN1 NM_020533.2(MCOLN1) insertion Pathogenic GRCh38 Chromosome 19, 7525165: 7525166
13 MCOLN1 NM_020533.2(MCOLN1): c.302_303delTC (p.Phe101Serfs) deletion Pathogenic rs797044830 GRCh38 Chromosome 19, 7526503: 7526504
14 MCOLN1 NM_020533.2(MCOLN1): c.317T> C (p.Leu106Pro) single nucleotide variant Pathogenic rs797044825 GRCh38 Chromosome 19, 7526518: 7526518
15 MCOLN1 NM_020533.2(MCOLN1): c.473_474delCC (p.Thr158Lysfs) deletion Pathogenic rs797044821 GRCh38 Chromosome 19, 7526828: 7526829
16 MCOLN1 NM_020533.2(MCOLN1): c.497G> T (p.Cys166Phe) single nucleotide variant Pathogenic rs797044826 GRCh37 Chromosome 19, 7591738: 7591738
17 MCOLN1 NM_020533.2(MCOLN1): c.514C> T (p.Arg172Ter) single nucleotide variant Pathogenic/Likely pathogenic rs797044824 GRCh37 Chromosome 19, 7591755: 7591755
18 MCOLN1 NM_020533.2(MCOLN1): c.694A> C (p.Thr232Pro) single nucleotide variant Pathogenic rs767122713 GRCh37 Chromosome 19, 7592763: 7592763
19 MCOLN1 NM_020533.2(MCOLN1): c.920delT (p.Leu307Profs) deletion Pathogenic/Likely pathogenic rs755042147 GRCh38 Chromosome 19, 7528639: 7528639
20 MCOLN1 NM_020533.2(MCOLN1): c.1210dupT (p.Tyr404Leufs) duplication Pathogenic rs797044822 GRCh38 Chromosome 19, 7529176: 7529176
21 MCOLN1 NM_020533.2(MCOLN1): c.1221_1223delCTT (p.Phe408del) deletion Pathogenic rs797044817 GRCh38 Chromosome 19, 7529187: 7529189
22 MCOLN1 NM_020533.2(MCOLN1): c.1336G> T (p.Val446Leu) single nucleotide variant Pathogenic rs754097561 GRCh38 Chromosome 19, 7529689: 7529689
23 MCOLN1 NM_020533.2(MCOLN1): c.1340T> C (p.Leu447Pro) single nucleotide variant Pathogenic rs797044827 GRCh38 Chromosome 19, 7529693: 7529693
24 MCOLN1 NM_020533.2(MCOLN1): c.1388G> A (p.Cys463Tyr) single nucleotide variant Pathogenic rs797044829 GRCh37 Chromosome 19, 7595200: 7595200
25 MCOLN1 NM_020533.2(MCOLN1): c.1395C> G (p.Phe465Leu) single nucleotide variant Pathogenic rs797044828 GRCh38 Chromosome 19, 7530321: 7530321
26 MCOLN1 NM_020533.2(MCOLN1): c.1406A> G (p.Asn469Ser) single nucleotide variant Pathogenic rs797044818 GRCh38 Chromosome 19, 7530332: 7530332
27 MCOLN1 NM_020533.2(MCOLN1): c.1463_1464insGGCCGCAGCAG (p.Ser488Argfs) duplication Pathogenic rs797044823 GRCh38 Chromosome 19, 7530379: 7530389
28 MCOLN1 NM_020533.2(MCOLN1): c.1615delG (p.Ala539Profs) deletion Pathogenic rs797044819 GRCh38 Chromosome 19, 7533562: 7533562
29 MCOLN1 NM_020533.2(MCOLN1): c.1704A> T (p.Gly568=) single nucleotide variant Pathogenic rs751298168 GRCh38 Chromosome 19, 7533651: 7533651
30 MCOLN1 AF287270: g.511_6943del undetermined variant Pathogenic
31 MCOLN1 NM_020533.2(MCOLN1): c.31+1G> A single nucleotide variant Likely pathogenic rs1057516246 GRCh38 Chromosome 19, 7522782: 7522782
32 MCOLN1 NM_020533.2(MCOLN1): c.54dupC (p.Asn19Glnfs) duplication Likely pathogenic rs1057516602 GRCh37 Chromosome 19, 7589869: 7589869
33 MCOLN1 NM_020533.2(MCOLN1): c.681-2A> G single nucleotide variant Likely pathogenic rs1057517453 GRCh37 Chromosome 19, 7592748: 7592748
34 MCOLN1 NM_020533.2(MCOLN1): c.855_856insA (p.His286Thrfs) insertion Likely pathogenic rs1057517040 GRCh38 Chromosome 19, 7528235: 7528236
35 MCOLN1 NM_020533.2(MCOLN1): c.984+1G> A single nucleotide variant Likely pathogenic rs767950930 GRCh38 Chromosome 19, 7528704: 7528704
36 MCOLN1 NM_020533.2(MCOLN1): c.1047dupA (p.Phe350Ilefs) duplication Likely pathogenic rs1057516904 GRCh37 Chromosome 19, 7593769: 7593769
37 MCOLN1 NM_020533.2(MCOLN1): c.1135-2A> G single nucleotide variant Likely pathogenic rs1057517335 GRCh37 Chromosome 19, 7593985: 7593985
38 MCOLN1 NM_020533.2(MCOLN1): c.1135-1G> A single nucleotide variant Likely pathogenic rs1057516458 GRCh37 Chromosome 19, 7593986: 7593986
39 MCOLN1 NM_020533.2(MCOLN1): c.1135-1G> C single nucleotide variant Likely pathogenic rs1057516458 GRCh37 Chromosome 19, 7593986: 7593986
40 MCOLN1 NM_020533.2(MCOLN1): c.1447C> T (p.Gln483Ter) single nucleotide variant Likely pathogenic rs1057516531 GRCh37 Chromosome 19, 7595259: 7595259

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:

36
# 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
12.12 GLB1 HEXA HEXB
2
Show member pathways
11.84 CTSA GLB1 GM2A HEXA HEXB PSAP
3
Show member pathways
11.49 GLB1 HEXA HEXB
4 11.26 CTSA GLB1 GM2A HEXA HEXB MCOLN1
5
Show member pathways
10.97 HEXA HEXB
6
Show member pathways
10.94 GLB1 HEXA HEXB
7
Show member pathways
10.73 GLB1 HEXA HEXB
8 10.59 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 exosome GO:0070062 9.91 CTSA ETFA GLB1 GM2A HEXA HEXB
2 intracellular membrane-bounded organelle GO:0043231 9.71 CTSA GLB1 MTOR PSAP
3 lysosomal membrane GO:0005765 9.56 CTSA MCOLN1 MTOR PSAP
4 azurophil granule lumen GO:0035578 9.46 CTSA GLB1 GM2A HEXB
5 lysosomal lumen GO:0043202 9.43 CTSA GLB1 GM2A HEXA HEXB PSAP
6 azurophil granule GO:0042582 9.32 HEXA HEXB
7 lysosome GO:0005764 9.23 CTSA GLB1 GM2A HEXA HEXB MCOLN1

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 9.78 GLB1 HEXA HEXB MGEA5
2 carbohydrate metabolic process GO:0005975 9.69 GLB1 HEXA HEXB
3 neutrophil degranulation GO:0043312 9.55 CTSA 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 9.46 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 9.13 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 GLB1 GM2A HEXA HEXB MGEA5
2 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.46 GLB1 HEXB
3 acetylglucosaminyltransferase activity GO:0008375 9.43 HEXA HEXB
4 enzyme activator activity GO:0008047 9.43 CTSA GM2A PSAP
5 exo-alpha-sialidase activity GO:0004308 9.37 CTSA GLB1
6 beta-galactosidase activity GO:0004565 9.32 GLB1 PSAP
7 hydrolase activity, acting on glycosyl bonds GO:0016798 9.26 GLB1 HEXA HEXB MGEA5
8 N-acetyl-beta-D-galactosaminidase activity GO:0102148 9.16 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....