ML4
MCID: MCL013
MIFTS: 65

Mucolipidosis Iv (ML4)

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

Aliases & Classifications for Mucolipidosis Iv

MalaCards integrated aliases for Mucolipidosis Iv:

Name: Mucolipidosis Iv 57 25 73 36 13
Mucolipidosis Type Iv 12 20 43 58 73 29 6 15 71
Ganglioside Sialidase Deficiency 20 43 39
Sialolipidosis 57 43 73
Ml4 57 43 73
Mucolipidosis Type 4 74 20
Mliv 43 73
Ganglioside Neuraminidase Deficiency 20
Type Iv Mucolipidosis 54
Berman Syndrome 20
Mucolipidosis 4 73
Gangliosidoses 71
Ml Iv 57
Ml 4 20

Characteristics:

Orphanet epidemiological data:

58
mucolipidosis type iv
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Sweden),1-9/100000; Age of onset: Infancy; Age of death: adult;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

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


HPO:

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


Classifications:

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


Summaries for Mucolipidosis Iv

MedlinePlus Genetics : 43 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.Approximately 95 percent of individuals with this condition have the severe form. People with typical mucolipidosis type IV have delayed development of mental and motor skills (psychomotor delay). Motor skills include sitting, standing, walking, grasping objects, and writing. Psychomotor delay is moderate to severe and usually becomes apparent during the first year of life. Affected individuals have intellectual disability, limited or absent speech, difficulty chewing and swallowing, weak muscle tone (hypotonia) that gradually turns into abnormal muscle stiffness (spasticity), and problems controlling hand movements. Most people with typical mucolipidosis type IV are unable to walk independently. In about 15 percent of affected individuals, the psychomotor problems worsen over time.Vision may be normal at birth in people with typical mucolipidosis type IV, but it becomes increasingly impaired during the first decade of life. Individuals with this condition develop clouding of the clear covering of the eye (cornea) and progressive breakdown of the light-sensitive layer at the back of the eye (retina). By their early teens, affected individuals have severe vision loss or blindness.People with typical mucolipidosis type IV also have impaired production of stomach acid (achlorhydria). Achlorhydria does not cause any symptoms in these individuals, but it does result in unusually high levels of gastrin in the blood. Gastrin is a hormone that regulates the production of stomach acid. Individuals with mucolipidosis type IV may not have enough iron in their blood, which can lead to a shortage of red blood cells (anemia). People with the severe form of this disorder usually survive to adulthood; however, they may have a shortened lifespan.About 5 percent of affected individuals have atypical mucolipidosis type IV. These individuals usually have mild psychomotor delay and may develop the ability to walk. People with atypical mucolipidosis type IV tend to have milder eye abnormalities than those with the severe form of the disorder. Achlorhydria also may be present in mildly affected individuals.

MalaCards based summary : Mucolipidosis Iv, also known as mucolipidosis type iv, is related to mucolipidoses and mucolipidosis, and has symptoms including photophobia An important gene associated with Mucolipidosis Iv is MCOLN1 (Mucolipin TRP Cation Channel 1), and among its related pathways/superpathways are Lysosome and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. The drugs parecoxib and Fluorouracil have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and retina, and related phenotypes are intellectual disability and hyperreflexia

Disease Ontology : 12 A mucolipidosis that is characterized by delayed development and vision impairment that worsens over time.

GARD : 20 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.

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) (Updated 05-Mar-2021)

KEGG : 36 Mucolipidosis IV (ML IV) is an autosomal recessive neurodegenerative lysosomal storage disorder characterized by psychomotor retardation and ophthalmologic abnormalities. ML IV is caused by mutations in mucolipin 1 (MCOLN1), a late endosomal/lysosomal ion channel. Cells from patients with MLIV accumulate enlarged vacuolar structures containing phospholipids, sphingolipids, mucopolysaccharides, and gangliosides. Accumulation of lipids results from defects in membrane transport along the late endocytic pathway. It was found that MCOLN1 is required for efficient fusion of both late endosomes and autophagosomes with lysosomes.

UniProtKB/Swiss-Prot : 73 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 : 74 Mucolipidosis type IV (ML IV, ganglioside sialidase deficiency, or ML4) is an autosomal recessive... more...

GeneReviews: NBK1214

Related Diseases for Mucolipidosis Iv

Diseases in the Mucolipidosis family:

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

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

(show top 50) (show all 87)
# Related Disease Score Top Affiliating Genes
1 mucolipidoses 32.2 MCOLN1 HEXA
2 mucolipidosis 30.7 TPCN2 TFEB NPC1 MTOR MCOLN3 MCOLN2
3 niemann-pick disease, type c1 30.3 NPC2 NPC1 LAMP1
4 lysosomal storage disease 30.2 NPC2 NPC1 MCOLN1 HEXA CLCN7
5 niemann-pick disease 30.0 TPCN2 TFEB NPC2 NPC1 MCOLN1 LAMP1
6 tay-sachs disease 29.9 TFEB NPC2 NPC1 MCOLN1 HEXA
7 neuronal ceroid lipofuscinosis 29.8 TFEB NPC2 MCOLN1 LAMP1
8 sphingolipidosis 29.8 TFEB NPC2 NPC1 MCOLN1 LAMP1 HEXA
9 gaucher's disease 29.8 TFEB NPC2 NPC1 LAMP1 HEXA
10 niemann-pick disease type c, juvenile neurologic onset 10.3 NPC2 NPC1
11 niemann-pick disease type c, adult neurologic onset 10.3 NPC2 NPC1
12 niemann-pick disease type c, severe early infantile neurologic onset 10.3 NPC2 NPC1
13 niemann-pick disease type c, late infantile neurologic onset 10.3 NPC2 NPC1
14 niemann-pick disease type c, severe perinatal form 10.3 NPC2 NPC1
15 t cell and nk cell immunodeficiency 10.2 TRPC3 TRPC1
16 lysosomal and lipase deficiency 10.2 TFEB NPC2 NPC1
17 yunis-varon syndrome 10.2 TPCN2 PIKFYVE MCOLN1
18 gm1 gangliosidosis 10.2 NPC2 NPC1 HEXA
19 niemann-pick disease, type a 10.2 NPC2 NPC1 MCOLN1
20 lysosomal acid lipase deficiency 10.2 TFEB NPC2 NPC1
21 sandhoff disease 10.2 NPC2 NPC1 HEXA
22 spondylometaphyseal dysplasia, kozlowski type 10.2 TRPV4 MCOLN1
23 spondyloepiphyseal dysplasia, maroteaux type 10.2 TRPV4 TRPC1 MCOLN1
24 gm2 gangliosidosis 10.2 NPC2 NPC1 HEXA
25 parastremmatic dwarfism 10.1 TRPV4 MCOLN1
26 polycystic liver disease 10.1 TRPV4 PKD2 MTOR
27 yemenite deaf-blind hypopigmentation syndrome 10.1
28 autosomal recessive disease 10.1
29 retinal degeneration 10.1
30 hypotonia 10.1
31 cerebral palsy 10.1
32 lipid storage disease 10.1 NPC2 NPC1 MCOLN1
33 mucopolysaccharidosis, type iiia 10.1 TFEB NPC1 MCOLN1 LAMP1
34 metachromatic leukodystrophy 10.1 NPC2 NPC1 HEXA
35 metatropic dysplasia 10.1 TRPV4 TRPV3 MCOLN1
36 chronic inflammatory demyelinating polyneuritis 10.1 TRPV4 HEXA
37 strabismus 10.1
38 3-methylglutaconic aciduria, type iii 10.1
39 alacrima, achalasia, and mental retardation syndrome 10.1
40 glycoproteinosis 10.1
41 myopathy 10.1
42 fundus dystrophy 10.1
43 mechanical strabismus 10.1
44 inherited retinal disorder 10.1
45 polycystic kidney disease 1 with or without polycystic liver disease 10.0 TRPV4 TRPC1 PKD2 MTOR
46 facial dermatosis 10.0 TRPV4 TRPV3
47 amyotrophic lateral sclerosis 1 10.0
48 vici syndrome 10.0
49 fabry disease 10.0
50 polycystic kidney disease 2 with or without polycystic liver disease 10.0

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



Diseases related to Mucolipidosis Iv

Symptoms & Phenotypes for Mucolipidosis Iv

Human phenotypes related to Mucolipidosis Iv:

58 31 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 hyperreflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001347
3 gait disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0001288
4 corneal opacity 58 31 hallmark (90%) Very frequent (99-80%) HP:0007957
5 photophobia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000613
6 retinopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000488
7 strabismus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000486
8 absent speech 58 31 hallmark (90%) Very frequent (99-80%) HP:0001344
9 developmental stagnation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007281
10 aplasia/hypoplasia of the abdominal wall musculature 58 31 hallmark (90%) Very frequent (99-80%) HP:0010318
11 abnormality of mucopolysaccharide metabolism 58 31 hallmark (90%) Very frequent (99-80%) HP:0011020
12 ganglioside accumulation 31 hallmark (90%) HP:0004345
13 eeg abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0002353
14 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
15 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
16 hypotonia 31 frequent (33%) HP:0001252
17 coarse facial features 58 31 occasional (7.5%) Occasional (29-5%) HP:0000280
18 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
19 abnormality of retinal pigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0007703
20 everted lower lip vermilion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000232
21 abnormal electroretinogram 58 31 occasional (7.5%) Occasional (29-5%) HP:0000512
22 microdontia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000691
23 palmoplantar keratoderma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000982
24 genu recurvatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002816
25 biparietal narrowing 58 31 occasional (7.5%) Occasional (29-5%) HP:0004422
26 abnormal nasal morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0005105
27 muscular hypotonia 58 Frequent (79-30%)
28 global developmental delay 31 HP:0001263
29 behavioral abnormality 58 Very frequent (99-80%)
30 visual impairment 31 HP:0000505
31 optic atrophy 31 HP:0000648
32 spastic tetraplegia 31 HP:0002510
33 opacification of the corneal stroma 31 HP:0007759
34 abnormality of ganglioside metabolism 58 Very frequent (99-80%)
35 dystonia 31 HP:0001332
36 babinski sign 31 HP:0003487
37 cerebellar atrophy 31 HP:0001272
38 progressive neurologic deterioration 31 HP:0002344
39 retinal degeneration 31 HP:0000546
40 generalized hypotonia 31 HP:0001290
41 cerebral dysmyelination 31 HP:0007266
42 dysplastic corpus callosum 31 HP:0006989
43 achlorhydria 31 HP:0032448
44 hypergastrinemia 31 HP:0500167
45 decreased light- and dark-adapted electroretinogram amplitude 31 HP:0000654
46 abnormal abdomen morphology 31 HP:0001438

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

UMLS symptoms related to Mucolipidosis Iv:


photophobia

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00297-A 9.1 CLCN7 HEXA MCOLN2 PKD2 TPCN2 TRPM1

MGI Mouse Phenotypes related to Mucolipidosis Iv:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.41 CLCN7 HEXA MCOLN1 MCOLN3 MTOR NPC1
2 growth/size/body region MP:0005378 10.34 CLCN7 HEXA LAMP1 MCOLN1 MCOLN3 MTOR
3 homeostasis/metabolism MP:0005376 10.3 CLCN7 HEXA LAMP1 MCOLN1 MCOLN2 MTOR
4 hematopoietic system MP:0005397 10.26 CLCN7 MCOLN1 MCOLN2 MTOR NPC1 NPC2
5 immune system MP:0005387 10.21 CLCN7 MCOLN1 MCOLN2 MTOR NPC1 NPC2
6 mortality/aging MP:0010768 10.18 CLCN7 HEXA LAMP1 MCOLN1 MCOLN3 MTOR
7 nervous system MP:0003631 10.17 CLCN7 HEXA LAMP1 MCOLN1 MCOLN3 MTOR
8 integument MP:0010771 10.06 CLCN7 LAMP1 MCOLN1 MCOLN3 NPC1 PIKFYVE
9 normal MP:0002873 9.91 CLCN7 LAMP1 MTOR NPC1 PIKFYVE PKD2
10 renal/urinary system MP:0005367 9.7 CLCN7 HEXA MCOLN1 MTOR PIKFYVE PKD2
11 respiratory system MP:0005388 9.5 CLCN7 MTOR NPC1 NPC2 PIKFYVE PKD2
12 vision/eye MP:0005391 9.28 CLCN7 HEXA MCOLN1 NPC1 TFEB TRPC3

Drugs & Therapeutics for Mucolipidosis Iv

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

(show top 50) (show all 309)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
parecoxib Approved Phase 4 198470-84-7
2
Fluorouracil Approved Phase 4 51-21-8 3385
3
leucovorin Approved Phase 4 58-05-9 6006
4
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 4 7487-88-9 24083
5
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
6
Morphine Approved, Investigational Phase 4 57-27-2 5288826
7
Sufentanil Approved, Investigational Phase 4 56030-54-7 41693
8
Oxaliplatin Approved, Investigational Phase 4 61825-94-3 5310940 9887054 6857599 43805
9
Bupivacaine Approved, Investigational Phase 4 38396-39-3, 2180-92-9 2474
10
Pregabalin Approved, Investigational Phase 4 148553-50-8 5486971
11
Ketoprofen Approved, Vet_approved Phase 4 22071-15-4 3825
12
Buprenorphine Approved, Illicit, Investigational, Vet_approved Phase 4 52485-79-7 40400 644073
13
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
14
Hydromorphone Approved, Illicit Phase 4 466-99-9 5284570
15
Thiopental Approved, Vet_approved Phase 4 76-75-5 3000715
16
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
17
Diphenhydramine Approved, Investigational Phase 4 147-24-0, 58-73-1 3100
18
Histamine Approved, Investigational Phase 4 51-45-6, 75614-87-8 774
19
Promethazine Approved, Investigational Phase 4 60-87-7 4927
20
Ondansetron Approved Phase 4 99614-02-5 4595
21
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
22
Budesonide Approved Phase 4 51333-22-3 63006 5281004
23
Fluticasone Approved, Experimental Phase 4 90566-53-3 62924
24
Omalizumab Approved, Investigational Phase 4 242138-07-4
25
Miglustat Approved Phase 4 72599-27-0 51634
26
Acetaminophen Approved Phase 4 103-90-2 1983
27
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
28
Zoledronic Acid Approved Phase 4 118072-93-8 68740
29
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
30
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
31
Tranexamic Acid Approved Phase 4 1197-18-8 5526
32
Ethanol Approved Phase 4 64-17-5 702
33
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
34
protease inhibitors Phase 4
35 HIV Protease Inhibitors Phase 4
36 BB 1101 Phase 4
37 Cyclooxygenase 2 Inhibitors Phase 4
38 Nutrients Phase 4
39 Protective Agents Phase 4
40 Micronutrients Phase 4
41 Vitamin B Complex Phase 4
42 Trace Elements Phase 4
43 Vitamins Phase 4
44 Folate Phase 4
45 Vitamin B9 Phase 4
46 Antidotes Phase 4
47 GABA Modulators Phase 4
48 Psychotropic Drugs Phase 4
49 Anti-Anxiety Agents Phase 4
50 Antiemetics Phase 4

Interventional clinical trials:

(show top 50) (show all 154)
# Name Status NCT ID Phase Drugs
1 The Compare the Effect of Peroperative Intravenous Single Dose Dexamethasone and the Addition of Dexamethasone to Femoral Nerve Block on Postoperative Analgesic Consumption Anf Patient Comfort in Unilateral Total Knee Arthroplasty Patients Unknown status NCT02090790 Phase 4 iv dexamethasone;femoral dexamethasone;serum physiologic
2 Effects of Parecoxib on Emergence Delirium and Postoperative Pain in Elderly Patients Undergoing Abdominal Surgery After General Anesthesia Unknown status NCT01221025 Phase 4 Parecoxib
3 Randomized, Double-blind, Placebo-controlled Study to Evaluate the Efficacy of Propofol or Midazolam Versus Placebo for Preoperative Medication in Patients Undergoing Elective Orthopedic Surgery Completed NCT01976845 Phase 4 Midazolam;Propofol;Saline
4 Efficacy of Preoperative Intravenous Dexamethasone in Controlling Postoperative Pain After Primary Total Knee Arthroplasty: A Randomized Double-blinded Controlled Trial Completed NCT02102815 Phase 4 Dexamethasone;Normal saline
5 The Management of Chronic Pain With Acetaminophen Four Times a Day Completed NCT02086747 Phase 4 Acetaminophen;Isotonic
6 Preloading Magnesium Attenuate Cisplatin-induced Nephrotoxicity Completed NCT02481518 Phase 4 Magnesium
7 Effects of Pre-operative Oral Pregabalin on Post Operative Morphine Consumption After Abdominal Hysterectomy With/Without Salpingo-oophorectomy Under Spinal Anesthesia With Intrathecal Morphine Completed NCT02285010 Phase 4 placebo;Pregabalin
8 A Phase IV, Multi-Center, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Analgesic Efficacy And Safety of IV Paracetamol Versus Placebo in Subjects With Postoperative Pain After Total Hip Arthroplasty Completed NCT00344045 Phase 4 Paracetamol;Placebo
9 A Randomized, Parallel Group, Masked Clinical Study to Evaluate the Efficacy of Triamcinolone and Bevacizumab Through Intravitreal Injection With Individual or Simultaneous Drugs to Treatment of Diabetic Macular Edema Completed NCT00737971 Phase 4 Bevacizumab intravitreal;Triamcinolone;Triamcinolone + Bevacizumab
10 Optimizing Periconceptional and Prenatal Folic Acid Supplementation Completed NCT02300948 Phase 4 PregVit® contains 1.1 mg of folic acid;PregVit-folic 5® contains 5 mg of folic acid
11 Does Vaccinating Health Hutterite Children Against Influenza Prevent Influenza in Other Hutterite Colony Members: A Randomized Cluster Trial Completed NCT00877396 Phase 4
12 Comparison of Sublingual Buprenorphine With Intravenous Morphine Sulfate in Treatment of Acute Pain Due to Long Bone Fracture Completed NCT01298297 Phase 4 Buprenorphine;Morphine
13 Randomized Clinical Trial of IV Acetaminophen as an Analgesic Adjunct to IV Hydromorphone in the Treatment of Acute Severe Pain in Elderly ED Patients Completed NCT02621619 Phase 4 IV acetaminophen + 0.5 mg IV hydromorphone;Normal saline + 0.5 mg IV hydromorphone
14 The Prevention of Pain Associated With Rocuronium Injection: Effect of Pretreatment With Acetaminophen and Lidocaine Completed NCT02524743 Phase 4 acetaminophen;Lidocaine
15 Preemptive Analgesia With Intravenous Paracetamol for Post-cesarean Section Pain Control : A Randomized Controlled Trial Completed NCT02369133 Phase 4 paracetamol;Placebo
16 Comparison of a Patient Controlled Oral Administration (PCOA) of Analgesic Protocol With an IV Administration After Planned Caesarian Section : Monocentric, Randomised and Controlled Study Completed NCT01566253 Phase 4 Acetaminophen, ketoprofen, morphine;Acetaminophen, ketoprofen,morphine
17 Evaluate the Safety of Combination of Orectalip® (Oxaliplatin), Fluorouracil and Leucovorin as Adjuvant Treatment for High-risk Stage-Ⅱ Colorectal Cancer Completed NCT02284529 Phase 4 Orectalip
18 Intravenous Fluids in Benign Headaches Trail: A Randomized Single Blind Clinical Trial Completed 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
19 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
20 Ultrasound Guidance or Electrical Nerve Stimulation for Interscalene Brachial Plexus Block: a Randomized, Controlled Trial Completed NCT00702416 Phase 4 Ropivacaine;Paracetamol;Morphine;Fentanyl
21 Budesonide Versus Fluticasone for Treatment of Eosinophilic Esophagitis Completed NCT02019758 Phase 4 Oral Viscous Budesonide;Fluticasone MDI;Placebo slurry;Placebo inhaler
22 The Effect of Xolair (Omalizumab) on Inhibiting Leukotriene and Cytokine (IL-4 and IL-13) Release From Blood Basophils Completed NCT00657891 Phase 4 Omalizumab;Placebo
23 General Anesthesia Versus Spinal Anesthesia Combined With Intrathecal Morphine in Abdominal Hysterectomy for Benign Gynecological Diseases. A Randomized Open Controlled Study. Completed NCT00527332 Phase 4 Bupivacain;Morphine;Propofol;Propofol;Fentanyl;Rocuronbromid;Morphine
24 Synergistic Enteral Regimen for Treatment of the Gangliosidoses (Syner-G) Recruiting NCT02030015 Phase 4 miglustat
25 TOPAZ: Trial of Parkinson's And Zoledronic Acid A Randomized Placebo-controlled Trial of Zoledronic Acid for the Prevention of Fractures in Patients With Parkinson's Disease Recruiting NCT03924414 Phase 4 Zoledronic Acid 5Mg/Bag 100Ml Inj
26 The Effect of Ketorolac on Posterior Thoracolumbar Spinal Fusions: a Prospective Randomized Controlled Trial Recruiting NCT03278691 Phase 4 Saline;Ketorolac
27 Randomized, Double-Blind Clinical Study Evaluating Efficacy of Intravenous Versus Enteric Acetaminophen in Donor Nephrectomy and Robot-Assisted, Laparoscopic Nephrectomy. Recruiting NCT03365622 Phase 4 acetaminophen;Acetaminophen;Placebos;Placebo Oral Tablet
28 Efficacy of Ketamine-fentanyl VS Fentanyl for Analgosedation in Postoperative Ventilated SICU Patients Recruiting NCT03879564 Phase 4 Ketamine;Normal saline
29 Coronavirus Induced Acute Kidney Injury: Prevention Using Urine Alkalinization Recruiting NCT04530448 Phase 4 Sodium bicarbonate
30 Xingnaojing for Moderate-to-severe Acute Ischemic Stroke (XMAS): A Multicenter, Prospective, Randomized, Open-label, Blinded Endpoint Clinical Trial. Active, not recruiting NCT02728180 Phase 4 Xingnaojing injection
31 Comparison of Propofol Combine Ketamine Anesthesia and Propofol Anesthesia in Schizophrenia Electroconvulsive Therapy: A Randomized Controlled Trial Not yet recruiting NCT03829124 Phase 4 Propofol;Ketamine
32 Different Dermatological Approaches in Treatment of Melasma: A Split Face Randomized Clinical Trial Not yet recruiting NCT03923062 Phase 4
33 A Randomized Double Blinded Study Comparing Use of Prochlorperazine Versus Prochlorperazine and Ketorolac in the Treatment of Pediatric Migraine in the Emergency Department Withdrawn NCT01534806 Phase 4 Ketorolac;Placebo
34 Randomized Comparison of Cyclophosphamide Versus Fludarabine in Addition to Anti-thymocyte Globulin for the Conditioning Therapy in Allogeneic Hematopoietic Cell Transplantation for Adult Acquired Aplastic Anemia Unknown status NCT01145976 Phase 3 Cy-ATG;Flu-ATG
35 Randomised Double-blinded Trial Comparing Efficacy and Safety of Methylprednisolone Per os Versus IV for the Treatment of Multiple Sclerosis Relapses Unknown status NCT00984984 Phase 3 methylprednisolone PO;methylprednisolone IV
36 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)
37 Comparative Efficacy of the Suppository Composed by Guaiacol, Eucalyptol, Menthol and Camphor Versus Guaiacol Suppository Versus Guaifenesin Syrup in Pediatric Patients With Cough Due the Infectious Origin Unknown status NCT01119534 Phase 3 Guaiacol, eucalyptol, menthol and camphor suppository;guaiacol suppository;Guaifenesin syrup
38 Phase III Randomized Trial of Taxotere/Cisplatin Followed by FOLFIRI or the Reverse Sequence in Unresectable Gastric Cancer Completed NCT00313872 Phase 3 DP;FOLFIRI
39 Pharmacokinetics, Safety and Tolerability of Zavesca (Miglustat) in Patients With Infantile Onset GM2 Gangliosidosis: Single and Steady State Oral Doses Completed NCT00672022 Phase 3 Zavesca (Miglustat)
40 A Phase III, Randomized, Open-Label, Multi-Center, Safety and Efficacy Study to Evaluate Nab-Paclitaxel (Abraxane®) as Maintenance Treatment After Induction With Nab-Paclitaxel Plus Carboplatin in Subjects With Squamous Cell Non-Small Cell Lung Cancer (NSCLC) Completed NCT02027428 Phase 3 Abraxane (Induction);Carboplatin (Induction);Abraxane (Maintenance);Abraxane (Induction);Carboplatin (Induction)
41 A Multi-Center, Randomized, Double-Blind, Placebo-Controlled, Parallel Design, 2-Arm Study to Investigate the Effect of Aprotinin on Transfusion Requirements and Blood Loss in Patients Undergoing Elective Primary Total Hip Replacement Surgery Completed NCT00668031 Phase 3 Trasylol (Aprotinin, BAYA0128);Placebo
42 Exchange of a Double Lumen Tube With a Proseal Laryngeal Mask or Single Lumen Endotracheal Tube Before Emergence Following a Thoracic Surgery: a Randomized-controlled Trial. Completed NCT00925613 Phase 3
43 Comparison of the Effects of Norepinephrine and Phenylephrine on Tissue Oxygenation and Hemodynamic Stability During an SVV Fluid Guided Therapy in Elderly Undergoing Radical Resection of Colon Cancer Surgery Completed NCT03215797 Phase 3 phenylephrine;Norepinephrine
44 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Bone Marrow Transplantation Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
45 Randomized Phase 3 Trial to Evaluate Two Simplified Antiretroviral Treatment Strategies in HIV Infected Children, Treated by Antiretroviral Triple Therapy Before One Year of Age, in Virological Success in Africa (Burkina Faso, Côte d'Ivoire, Rwanda) Completed NCT01127204 Phase 2, Phase 3 AZT-3TC-LPV/r twice a day;ABC-3TC-EFV once a day
46 A Prospective Multicenter Phase III Clinical Evaluation of the Safety and Efficacy of Lumason™/SonoVue® in Subjects Undergoing Pharmacologic Stress Echocardiography With Dobutamine for the Diagnosis of Coronary Artery Disease Completed NCT02522481 Phase 3 Lumason
47 Randomized Comparison of Cyclophosphamide Versus Cyclophosphamide Plus Fludarabine In Addition To Anti-Thymocyte Globulin for the Conditioning Therapy in Allogeneic Hematopoietic Cell Transplantation for Bone Marrow Failure Syndrome Completed NCT00774527 Phase 3 Cyclophosphamide-fludarabine-anti thymocyte globulin
48 A Prospective Multicenter Phase III Clinical Evaluation of the Safety and Efficacy of Lumason™/SonoVue® in Subjects Undergoing Pharmacologic Stress Echocardiography With Dobutamine for the Diagnosis of Coronary Artery Disease Completed NCT02552238 Phase 3 Lumason
49 Dexamethasone Versus Placebo in Optimizing the Postoperative Period After Laparoscopic Inguinal Hernia Repair Completed NCT01170780 Phase 3 Dexamethasone;Saline
50 A Randomized Phase 3 Study Comparing Pemetrexed-Carboplatin With Docetaxel-Carboplatin as First-Line Treatment for Patients With Locally Advanced or Metastatic Non-Small Cell Lung Cancer Completed NCT00520676 Phase 3 pemetrexed;docetaxel;carboplatin

Search NIH Clinical Center for Mucolipidosis Iv

Genetic Tests for Mucolipidosis Iv

Genetic tests related to Mucolipidosis Iv:

# Genetic test Affiliating Genes
1 Mucolipidosis Type Iv 29 MCOLN1

Anatomical Context for Mucolipidosis Iv

MalaCards organs/tissues related to Mucolipidosis Iv:

40
Eye, Bone, Retina, Brain, Bone Marrow, Skin, Colon

Publications for Mucolipidosis Iv

Articles related to Mucolipidosis Iv:

(show top 50) (show all 238)
# Title Authors PMID Year
1
Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel. 61 54 57 6 25
11030752 2000
2
Identification of the gene causing mucolipidosis type IV. 54 61 25 57 6
10973263 2000
3
Mucolipidosis IV: report of a case with ocular restricted phenotype caused by leaky splice mutation. 61 57 6 25
17239335 2007
4
Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of mucolipidosis IV. 6 25 61 57
15523648 2004
5
Mapping of the mucolipidosis type IV gene to chromosome 19p and definition of founder haplotypes. 61 54 6 57
10441585 1999
6
Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population. 61 25 54 6
11845410 2002
7
Cloning of the gene encoding a novel integral membrane protein, mucolipidin-and identification of the two major founder mutations causing mucolipidosis type IV. 54 6 25 61
11013137 2000
8
Mucolipidosis IV consists of one complementation group. 25 54 61 57
10411915 1999
9
Electronegative electroretinogram in mucolipidosis IV. 57 25 61
11786056 2002
10
Regulation of endocytosis by CUP-5, the Caenorhabditis elegans mucolipin-1 homolog. 57 61 25
11326278 2001
11
Mucolipidosis type IV: characteristic MRI findings. 25 57 61
9710036 1998
12
Constitutive achlorhydria in mucolipidosis type IV. 25 61 57
9448310 1998
13
Autophagic dysfunction in mucolipidosis type IV patients. 57 54 61
18550655 2008
14
Mucolipidosis type IV: the origin of the disease in the Ashkenazi Jewish population. 57 54 61
10352940 1999
15
Mucolipidosis type IV: abnormal transport of lipids to lysosomes. 54 57 61
9323557 1997
16
Mucolipidosis type IV: clinical manifestations and natural history. 61 54 57
1789285 1991
17
Isolated ocular disease is associated with decreased mucolipin-1 channel conductance. 25 54 61
18326692 2008
18
Overexpression of wild-type and mutant mucolipin proteins in mammalian cells: effects on the late endocytic compartment organization. 25 61 54
15178326 2004
19
Caenorhabditis elegans functional orthologue of human protein h-mucolipin-1 is required for lysosome biogenesis. 25 54 61
15070744 2004
20
Molecular pathophysiology of mucolipidosis type IV: pH dysregulation of the mucolipin-1 cation channel. 61 54 25
14749347 2004
21
Identification and characterization of the single channel function of human mucolipin-1 implicated in mucolipidosis type IV, a disorder affecting the lysosomal pathway. 61 25 54
12459486 2002
22
Mucolipidosis IV: novel mutation and diverse ultrastructural spectrum in the skin. 25 54 61
12368990 2002
23
The neurogenetics of mucolipidosis type IV. 61 54 25
12182165 2002
24
Mucolipidosis type IV. 25 54 61
11461186 2001
25
Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population. 25 54 61
11317355 2001
26
Abnormal transport along the lysosomal pathway in mucolipidosis, type IV disease. 57 61
9600972 1998
27
Mucolipidosis IV: morphology and histochemistry of an autopsy case. 61 57
7876885 1995
28
Early prenatal diagnosis of mucolipidosis IV. 57 61
3425607 1987
29
Mucolipidosis type IV: clinical spectrum and natural history. 61 57
2438637 1987
30
Ocular abnormalities in mucolipidosis IV. 57 61
3918453 1985
31
Treatment of corneal opacification in mucolipidosis IV with conjunctival transplantation. 57 61
3970116 1985
32
Review article: mucolipidosis IV. 61 57
7114093 1982
33
Catalytically defective ganglioside neuraminidase in mucolipidosis IV. 57 61
6813002 1982
34
Mucolipidosis IV, a sialolipidosis due to ganglioside sialidase deficiency. 61 57
6820444 1982
35
Two brothers with presumed mucolipidosis IV. 61 57
7171766 1982
36
Mucolipidosis IV. 57 61
231746 1979
37
Mucolipidosis type IV: ganglioside sialidase deficiency. 61 57
518603 1979
38
Mucopolysaccharide accumulation in cultured skin fibroblasts derived from patients with mucolipidosis IV. 61 57
145180 1977
39
Prenatal diagnosis of mucolipidosis IV by electron microscopy. 61 57
830895 1977
40
Mucolipidosis IV. Clinical, ultrastructural, histochemical, and chemical studies of a case, including a brain biopsy. 57 61
187156 1976
41
Mucolipidosis IV: ocular, systemic, and ultrastructural findings. 57 61
166049 1975
42
Quantitative neuroimaging in mucolipidosis type IV. 25 61
24332805 2014
43
The type IV mucolipidosis-associated protein TRPML1 is an endolysosomal iron release channel. 25 61
18794901 2008
44
Basis of lethality in C. elegans lacking CUP-5, the Mucolipidosis Type IV orthologue. 61 25
16530747 2006
45
The molecular basis of mucolipidosis type IV. 61 25
12125810 2002
46
Noninvasive diagnosis and ophthalmic features of mucolipidosis type IV. 25 61
11874766 2002
47
Rapid detection of the two common mutations in Ashkenazi Jewish patients with mucolipidosis type IV. 25 61
11551108 2001
48
Electroencephalographic findings in patients with mucolipidosis type IV. 25 61
9680151 1998
49
Cultured skin fibroblasts derived from patients with mucolipidosis 4 are auto-fluorescent. 57
7651750 1995
50
A mild variant of mucolipidosis type 4 (ML4). 57
7171767 1982

Variations for Mucolipidosis Iv

ClinVar genetic disease variations for Mucolipidosis Iv:

6 (show top 50) (show all 194)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MCOLN1 NG_015806.1:g.4127_10560del6434 Deletion Pathogenic 5132 19:7586622-7593055 19:7521736-7528169
2 MCOLN1 MCOLN1, 3-BP DEL, 1346CTT Deletion Pathogenic 5134
3 MCOLN1 NM_020533.3(MCOLN1):c.304C>T (p.Arg102Ter) SNV Pathogenic 5136 rs121908373 19:7591391-7591391 19:7526505-7526505
4 MCOLN1 NM_020533.3(MCOLN1):c.1207C>T (p.Arg403Cys) SNV Pathogenic 5137 rs121908374 19:7594059-7594059 19:7529173-7529173
5 MCOLN1 MCOLN1, 93-BP INS, NT236 Insertion Pathogenic 5138
6 MCOLN1 MCOLN1, 1704A-T SNV Pathogenic 5139
7 MCOLN1 AF287270:g.511_6943del Deletion Pathogenic 208020
8 MCOLN1 NM_020533.3(MCOLN1):c.1704A>T (p.Gly568=) SNV Pathogenic 208024 rs751298168 19:7598537-7598537 19:7533651-7533651
9 MCOLN1 NM_020533.3(MCOLN1):c.1615del (p.Ala539fs) Deletion Pathogenic 208025 rs1555742780 19:7598447-7598447 19:7533561-7533561
10 MCOLN1 NM_020533.3(MCOLN1):c.163_197delinsTCA (p.Lys55fs) Indel Pathogenic 208026 rs797044820 19:7589978-7590012 19:7525092-7525126
11 MCOLN1 NM_020533.3(MCOLN1):c.473_474del (p.Thr158fs) Deletion Pathogenic 208027 rs797044821 19:7591714-7591715 19:7526828-7526829
12 MCOLN1 NM_020533.3(MCOLN1):c.1210dup (p.Tyr404fs) Duplication Pathogenic 208028 rs797044822 19:7594061-7594062 19:7529175-7529176
13 MCOLN1 NM_020533.3(MCOLN1):c.1340T>C (p.Leu447Pro) SNV Pathogenic 208034 rs797044827 19:7594579-7594579 19:7529693-7529693
14 MCOLN1 NM_020533.3(MCOLN1):c.236_237ins[NC_012920.1:m.12435_12527] (p.Gln79delinsHisHisTyrValLysSerIleValAlaSerThrPheIleIleSerLeuPheProThrThrIlePheMetCysLeuAspGlnGluValIleIleSer) Insertion Pathogenic 208037 19:7590051-7590052 19:7525165-7525166
15 MCOLN1 NM_020533.3(MCOLN1):c.1453_1463dup (p.Ser488fs) Duplication Pathogenic 208029 rs797044823 19:7595256-7595257 19:7530370-7530371
16 MCOLN1 NM_020533.3(MCOLN1):c.1395C>G (p.Phe465Leu) SNV Pathogenic 208035 rs797044828 19:7595207-7595207 19:7530321-7530321
17 MCOLN1 NM_020533.3(MCOLN1):c.302_303del (p.Phe101fs) Deletion Pathogenic 208038 rs797044830 19:7591389-7591390 19:7526503-7526504
18 MCOLN1 NM_020533.3(MCOLN1):c.1388G>A (p.Cys463Tyr) SNV Pathogenic 208036 rs797044829 19:7595200-7595200 19:7530314-7530314
19 MCOLN1 NM_020533.3(MCOLN1):c.235C>T (p.Gln79Ter) SNV Pathogenic 208042 rs797044832 19:7590050-7590050 19:7525164-7525164
20 MCOLN1 NM_020533.3(MCOLN1):c.497G>T (p.Cys166Phe) SNV Pathogenic 208032 rs797044826 19:7591738-7591738 19:7526852-7526852
21 MCOLN1 NM_020533.3(MCOLN1):c.317T>C (p.Leu106Pro) SNV Pathogenic 208031 rs797044825 19:7591404-7591404 19:7526518-7526518
22 MCOLN1 NM_020533.3(MCOLN1):c.445dup (p.Tyr149fs) Duplication Pathogenic 661439 rs1568398702 19:7591685-7591686 19:7526799-7526800
23 MCOLN1 NM_020533.3(MCOLN1):c.680+1G>A SNV Pathogenic 813499 rs1599254152 19:7592515-7592515 19:7527629-7527629
24 MCOLN1 NM_020533.3(MCOLN1):c.166_182del (p.Phe56fs) Deletion Pathogenic 951639 19:7589980-7589996 19:7525094-7525110
25 MCOLN1 NM_020533.3(MCOLN1):c.878_879GA[1] (p.Asp294fs) Microsatellite Pathogenic 860465 19:7593483-7593484 19:7528597-7528598
26 MCOLN1 NM_020533.3(MCOLN1):c.874_877delinsTACT (p.His292_Gly293delinsTyrTer) Indel Pathogenic 970981 19:7593140-7593143 19:7528254-7528257
27 MCOLN1 NM_020533.3(MCOLN1):c.405+1G>A SNV Pathogenic 419813 rs148748724 19:7591493-7591493 19:7526607-7526607
28 MCOLN1 NM_020533.3(MCOLN1):c.406-2A>G SNV Pathogenic 5131 rs104886461 19:7591645-7591645 19:7526759-7526759
29 MCOLN1 NM_020533.3(MCOLN1):c.192C>A (p.Cys64Ter) SNV Pathogenic 836263 19:7590007-7590007 19:7525121-7525121
30 MCOLN1 NC_000019.10:g.(?_7522731)_(7528277_?)del Deletion Pathogenic 528767 19:7587617-7593163 19:7522731-7528277
31 MCOLN1 NM_020533.3(MCOLN1):c.694A>C (p.Thr232Pro) SNV Pathogenic/Likely pathogenic 208021 rs767122713 19:7592763-7592763 19:7527877-7527877
32 MCOLN1 NM_020533.3(MCOLN1):c.920del (p.Leu307fs) Deletion Pathogenic/Likely pathogenic 208039 rs755042147 19:7593525-7593525 19:7528639-7528639
33 MCOLN1 NM_020533.3(MCOLN1):c.964C>T (p.Arg322Ter) SNV Pathogenic/Likely pathogenic 5133 rs121908371 19:7593569-7593569 19:7528683-7528683
34 MCOLN1 NM_020533.3(MCOLN1):c.984+1G>A SNV Pathogenic/Likely pathogenic 371019 rs767950930 19:7593590-7593590 19:7528704-7528704
35 MCOLN1 NM_020533.3(MCOLN1):c.1135-2A>G SNV Likely pathogenic 371520 rs1057517335 19:7593985-7593985 19:7529099-7529099
36 MCOLN1 NM_020533.3(MCOLN1):c.1135-1G>C SNV Likely pathogenic 370398 rs1057516458 19:7593986-7593986 19:7529100-7529100
37 MCOLN1 NM_020533.3(MCOLN1):c.1447C>T (p.Gln483Ter) SNV Likely pathogenic 370494 rs1057516531 19:7595259-7595259 19:7530373-7530373
38 MCOLN1 NM_020533.3(MCOLN1):c.1135-1G>A SNV Likely pathogenic 371113 rs1057516458 19:7593986-7593986 19:7529100-7529100
39 MCOLN1 NM_020533.3(MCOLN1):c.681-2A>G SNV Likely pathogenic 371671 rs1057517453 19:7592748-7592748 19:7527862-7527862
40 MCOLN1 NM_020533.3(MCOLN1):c.855_856insA (p.His286fs) Insertion Likely pathogenic 371144 rs1057517040 19:7593121-7593122 19:7528235-7528236
41 MCOLN1 NM_020533.3(MCOLN1):c.31+1G>A SNV Likely pathogenic 370118 rs1057516246 19:7587668-7587668 19:7522782-7522782
42 MCOLN1 NM_020533.3(MCOLN1):c.54dup (p.Asn19fs) Duplication Likely pathogenic 370580 rs1057516602 19:7589864-7589865 19:7524978-7524979
43 MCOLN1 NM_020533.3(MCOLN1):c.38_41dup (p.Leu15fs) Duplication Likely pathogenic 550237 rs1555741548 19:7589850-7589851 19:7524964-7524965
44 MCOLN1 NM_020533.3(MCOLN1):c.571+2T>C SNV Likely pathogenic 554026 rs1555741822 19:7591814-7591814 19:7526928-7526928
45 MCOLN1 NM_020533.3(MCOLN1):c.32-2A>G SNV Likely pathogenic 555282 rs1555741545 19:7589845-7589845 19:7524959-7524959
46 MCOLN1 NM_020533.3(MCOLN1):c.1134+2T>C SNV Likely pathogenic 555566 rs1555742162 19:7593858-7593858 19:7528972-7528972
47 MCOLN1 NM_020533.3(MCOLN1):c.1084G>T (p.Asp362Tyr) SNV Likely pathogenic 5135 rs121908372 19:7593806-7593806 19:7528920-7528920
48 MCOLN1 NM_020533.3(MCOLN1):c.1219_1221TTC[1] (p.Phe408del) Microsatellite Likely pathogenic 208022 rs797044817 19:7594070-7594072 19:7529184-7529186
49 MCOLN1 NM_020533.3(MCOLN1):c.1406A>G (p.Asn469Ser) SNV Likely pathogenic 208023 rs797044818 19:7595218-7595218 19:7530332-7530332
50 MCOLN1 NM_020533.3(MCOLN1):c.1336G>T (p.Val446Leu) SNV Likely pathogenic 208033 rs754097561 19:7594575-7594575 19:7529689-7529689

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

73
# 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

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
13.06 TRPV4 TRPV3 TRPM6 TRPM1 TRPC3 TRPC1
2 12.1 TPCN2 TPCN1 MCOLN3 MCOLN2 MCOLN1
3
Show member pathways
11.9 TRPV4 TRPV3 TRPM6 TRPM1 TRPC3 TRPC1
4 11.76 NPC2 NPC1 MCOLN1 LAMP1 HEXA
5 11.01 TRPV4 TRPV3 TRPM6 TRPM1 TRPC3 TRPC1
6
Show member pathways
10.51 NPC2 NPC1

GO Terms for Mucolipidosis Iv

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 10.31 TRPV4 TRPV3 TRPM6 TRPM1 TRPC3 TRPC1
2 plasma membrane GO:0005886 10.27 TRPV4 TRPV3 TRPM6 TRPM1 TRPC3 TRPC1
3 membrane GO:0016020 10.23 TRPV4 TRPV3 TRPM6 TRPM1 TRPC3 TRPC1
4 integral component of plasma membrane GO:0005887 10.02 TRPV4 TRPV3 TRPM6 TRPM1 TRPC3 TRPC1
5 endosome GO:0005768 10 TPCN1 PIKFYVE NPC1 MCOLN3 MCOLN2 MCOLN1
6 cytoplasmic vesicle GO:0031410 9.97 TRPV4 PKD2 PIKFYVE MTOR MCOLN3 MCOLN1
7 endosome membrane GO:0010008 9.88 TPCN2 TPCN1 PIKFYVE MCOLN1 LAMP1
8 lysosomal membrane GO:0005765 9.65 TPCN2 TPCN1 TFEB NPC1 MTOR MCOLN3
9 late endosome membrane GO:0031902 9.63 PIKFYVE NPC1 MCOLN3 MCOLN2 MCOLN1 LAMP1
10 cation channel complex GO:0034703 9.58 TRPC3 TRPC1 PKD2
11 lysosome GO:0005764 9.4 TPCN2 TPCN1 TFEB NPC2 NPC1 MTOR

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 10.02 TRPV4 TRPV3 TRPM6 TRPM1 TRPC3 TRPC1
2 ion transport GO:0006811 9.97 TRPV4 TRPV3 TRPM6 TRPM1 TRPC3 TRPC1
3 ion transmembrane transport GO:0034220 9.96 TRPV4 TRPV3 TRPM6 TRPM1 TPCN2 TPCN1
4 cation transmembrane transport GO:0098655 9.8 TRPM6 TRPM1 MCOLN3 MCOLN2 MCOLN1
5 release of sequestered calcium ion into cytosol GO:0051209 9.8 TPCN2 TPCN1 PKD2 MCOLN3 MCOLN2 MCOLN1
6 cellular calcium ion homeostasis GO:0006874 9.77 TRPV4 TPCN2 PKD2
7 lysosome organization GO:0007040 9.65 TPCN2 TFEB MTOR
8 calcium ion transport GO:0006816 9.65 TRPV4 TRPV3 TRPM6 TRPC3 TRPC1 TPCN2
9 embryonic placenta development GO:0001892 9.61 TFEB PKD2
10 protein tetramerization GO:0051262 9.61 TRPM6 TRPM1 PKD2
11 calcium ion import across plasma membrane GO:0098703 9.59 TRPV4 TRPV3
12 negative regulation of macroautophagy GO:0016242 9.58 NPC1 MTOR
13 positive regulation of monocyte chemotactic protein-1 production GO:0071639 9.58 TRPV4 MCOLN2
14 intracellular cholesterol transport GO:0032367 9.57 NPC2 NPC1
15 manganese ion transport GO:0006828 9.56 TRPC3 TRPC1
16 cellular response to osmotic stress GO:0071470 9.55 TRPV4 PKD2
17 divalent metal ion transport GO:0070838 9.54 TRPM6 TRPM1
18 phagosome maturation GO:0090382 9.52 PIKFYVE MCOLN1
19 positive regulation of chemokine (C-C motif) ligand 5 production GO:0071651 9.51 TRPV4 MCOLN2
20 receptor-mediated endocytosis of virus by host cell GO:0019065 9.49 TPCN2 PIKFYVE
21 positive regulation of macrophage inflammatory protein 1 alpha production GO:0071642 9.46 TRPV4 MCOLN2
22 calcium ion transmembrane transport GO:0070588 9.4 TRPV4 TRPV3 TRPM6 TRPM1 TRPC3 TRPC1

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

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.86 TRPV4 TRPV3 TRPM6 TRPM1 TRPC3 TRPC1
2 cation channel activity GO:0005261 9.61 TRPV4 TRPV3 TRPM6 TRPM1 TRPC1 PKD2
3 NAADP-sensitive calcium-release channel activity GO:0072345 9.55 TPCN2 TPCN1 MCOLN3 MCOLN2 MCOLN1
4 voltage-gated calcium channel activity GO:0005245 9.5 TPCN2 TPCN1 PKD2
5 voltage-gated sodium channel activity GO:0005248 9.43 TPCN1 PKD2
6 inositol 1,4,5 trisphosphate binding GO:0070679 9.4 TRPC3 TRPC1
7 store-operated calcium channel activity GO:0015279 9.37 TRPC3 TRPC1
8 calcium channel activity GO:0005262 9.32 TRPV4 TRPV3 TRPM6 TRPM1 TRPC3 TRPC1

Sources for Mucolipidosis Iv

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