ML4
MCID: MCL013
MIFTS: 65

Mucolipidosis Iv (ML4)

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

Aliases & Classifications for Mucolipidosis Iv

MalaCards integrated aliases for Mucolipidosis Iv:

Name: Mucolipidosis Iv 56 24 73 36 29 13
Mucolipidosis Type Iv 12 52 25 58 73 29 6 15 71
Ganglioside Sialidase Deficiency 52 25 39
Sialolipidosis 56 25 73
Ml4 56 25 73
Mucolipidosis Type 4 74 52
Mliv 25 73
Ganglioside Neuraminidase Deficiency 52
Type Iv Mucolipidosis 54
Berman Syndrome 52
Mucolipidosis 4 73
Gangliosidoses 71
Ml Iv 56
Ml 4 52

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:

56
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

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. 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 glycoproteinosis and lysosomal storage 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 Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. The drugs Atropine and Sevoflurane have been mentioned in the context of this disorder. Affiliated tissues include eye, liver and lung, and related phenotypes are intellectual disability and gait disturbance

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

NIH Rare Diseases : 52 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 : 56 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)

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 73)
# Related Disease Score Top Affiliating Genes
1 glycoproteinosis 30.1 MCOLN1 LAMP1 ARSH
2 lysosomal storage disease 30.1 NPC2 NPC1 MCOLN1 HEXA ARSH
3 niemann-pick disease, type c1 29.8 NPC2 NPC1 LAMP1 HEXA
4 gaucher disease, type i 29.7 LAMP1 HEXA ARSH
5 mucolipidosis 29.6 TPCN2 TFEB NPC1 MTOR MCOLN3 MCOLN2
6 tay-sachs disease 29.4 TFEB NPC2 NPC1 MCOLN1 HEXA ARSH
7 neuronal ceroid lipofuscinosis 29.0 TFEB NPC2 NPC1 MCOLN1 LAMP1 ARSH
8 mucolipidoses 11.7
9 niemann-pick disease type c, juvenile neurologic onset 10.3 NPC2 NPC1
10 niemann-pick disease type c, adult neurologic onset 10.3 NPC2 NPC1
11 niemann-pick disease type c, severe early infantile neurologic onset 10.3 NPC2 NPC1
12 niemann-pick disease type c, late infantile neurologic onset 10.3 NPC2 NPC1
13 niemann-pick disease type c, severe perinatal form 10.3 NPC2 NPC1
14 autosomal recessive disease 10.2
15 yunis-varon syndrome 10.2 VAC14 TPCN2 MCOLN1
16 cerebral palsy 10.1
17 strabismus 10.1
18 neuraminidase deficiency 10.1
19 3-methylglutaconic aciduria, type iii 10.1
20 yemenite deaf-blind hypopigmentation syndrome 10.1
21 iron metabolism disease 10.1
22 retinal degeneration 10.1
23 fundus dystrophy 10.1
24 mechanical strabismus 10.1
25 hypotonia 10.1
26 inherited retinal disorder 10.1
27 niemann-pick disease, type b 10.1 NPC2 NPC1
28 lipid storage disease 10.1 NPC2 NPC1 MCOLN1 HEXA
29 brachyolmia 10.1 TRPV4 TRPV3 TRPC1
30 ceroid lipofuscinosis, neuronal, 3 10.1 TFEB MCOLN1 ARSH
31 polycystic liver disease 10.1 TRPV4 PKD2 MTOR
32 mucopolysaccharidosis-plus syndrome 10.0 TFEB HEXA ARSH
33 morquio syndrome 10.0 TRPV4 ARSH
34 polycystic kidney disease 1 with or without polycystic liver disease 10.0
35 vici syndrome 10.0
36 polycystic kidney disease 2 with or without polycystic liver disease 10.0
37 vitamin b12 deficiency 10.0
38 ptosis 10.0
39 polycystic kidney disease 10.0
40 pigmentation disease 10.0
41 niemann-pick disease 10.0
42 epilepsy 10.0
43 retinal vascular disease 10.0
44 gastritis 10.0
45 atrophic gastritis 10.0
46 niemann-pick disease, type c2 10.0 NPC2 NPC1
47 myopathy, congenital 10.0
48 reflex sympathetic dystrophy 10.0
49 alacrima, achalasia, and mental retardation syndrome 10.0
50 deficiency anemia 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 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 gait disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0001288
3 hyperreflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001347
4 corneal opacity 58 31 hallmark (90%) Very frequent (99-80%) HP:0007957
5 retinopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000488
6 photophobia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000613
7 aplasia/hypoplasia of the abdominal wall musculature 58 31 hallmark (90%) Very frequent (99-80%) HP:0010318
8 strabismus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000486
9 absent speech 58 31 hallmark (90%) Very frequent (99-80%) HP:0001344
10 developmental stagnation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007281
11 abnormality of mucopolysaccharide metabolism 58 31 hallmark (90%) Very frequent (99-80%) HP:0011020
12 ganglioside accumulation 31 hallmark (90%) HP:0004345
13 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
14 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
15 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
16 eeg abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0002353
17 coarse facial features 58 31 occasional (7.5%) Occasional (29-5%) HP:0000280
18 abnormal electroretinogram 58 31 occasional (7.5%) Occasional (29-5%) HP:0000512
19 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
20 abnormality of retinal pigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0007703
21 palmoplantar keratoderma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000982
22 everted lower lip vermilion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000232
23 microdontia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000691
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 behavioral abnormality 58 Very frequent (99-80%)
28 global developmental delay 31 HP:0001263
29 retinal degeneration 31 HP:0000546
30 visual impairment 31 HP:0000505
31 optic atrophy 31 HP:0000648
32 spastic tetraplegia 31 HP:0002510
33 generalized hypotonia 31 HP:0001290
34 opacification of the corneal stroma 31 HP:0007759
35 abnormality of ganglioside metabolism 58 Very frequent (99-80%)
36 babinski sign 31 HP:0003487
37 dystonia 31 HP:0001332
38 cerebellar atrophy 31 HP:0001272
39 progressive neurologic deterioration 31 HP:0002344
40 dysplastic corpus callosum 31 HP:0006989
41 cerebral dysmyelination 31 HP:0007266
42 abnormality of abdomen morphology 31 HP:0001438
43 hypergastrinemia 31 HP:0500167
44 decreased light- and dark-adapted electroretinogram amplitude 31 HP:0000654
45 achlorhydria 31 HP:0032448

Symptoms via clinical synopsis from OMIM:

56
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

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 9.35 ARSH HEXA MCOLN2 PKD2 TPCN2
2 Dynamic nuclei (hole, folded or small irregular) GR00257-A-1 9.28 HEXA MTOR TPCN2 TRPC1 TRPC3 TRPC6

MGI Mouse Phenotypes related to Mucolipidosis Iv:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.07 HEXA MCOLN1 MCOLN3 MTOR NPC1 NPC2
2 growth/size/body region MP:0005378 10 HEXA LAMP1 MCOLN1 MCOLN3 MTOR NPC1
3 integument MP:0010771 9.61 LAMP1 MCOLN1 MCOLN3 NPC1 TFEB TRPC6
4 nervous system MP:0003631 9.44 HEXA LAMP1 MCOLN1 MCOLN3 MTOR NPC1

Drugs & Therapeutics for Mucolipidosis Iv

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

(show top 50) (show all 413)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Atropine Approved, Vet_approved Phase 4 51-55-8, 5908-99-6 174174
2
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
3
Parecoxib Approved Phase 4 198470-84-7
4
leucovorin Approved Phase 4 58-05-9 6006 143
5
Oxaliplatin Approved, Investigational Phase 4 61825-94-3 5310940 9887054 6857599 43805
6
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 4 7487-88-9 24083
7
Fluorouracil Approved Phase 4 51-21-8 3385
8
Morphine Approved, Investigational Phase 4 57-27-2 5288826
9
Buprenorphine Approved, Illicit, Investigational, Vet_approved Phase 4 52485-79-7 40400 644073
10
Pregabalin Approved, Investigational Phase 4 148553-50-8 5486971
11
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
12
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
13
Omalizumab Approved, Investigational Phase 4 242138-07-4
14
Ketoprofen Approved, Vet_approved Phase 4 22071-15-4 3825
15
Sufentanil Approved, Investigational Phase 4 56030-54-7 41693
16
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
17
Granisetron Approved, Investigational Phase 4 109889-09-0 3510
18
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
19
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
20
Sodium citrate Approved, Investigational Phase 4 68-04-2
21
Thiopental Approved, Vet_approved Phase 4 76-75-5 3000715
22
Fluticasone Approved, Experimental Phase 4 90566-53-3 62924
23
Budesonide Approved Phase 4 51333-22-3 63006 5281004
24
Abacavir Approved, Investigational Phase 4 136470-78-5 65140 441300
25
Efavirenz Approved, Investigational Phase 4 154598-52-4 64139
26
Zidovudine Approved Phase 4 30516-87-1 35370
27
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
28
Emtricitabine Approved, Investigational Phase 4 143491-57-0 60877
29
Miglustat Approved Phase 4 72599-27-0 51634
30
Histamine Approved, Investigational Phase 4 51-45-6 774
31
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
32
Entecavir Approved, Investigational Phase 4 142217-69-4 153941
33
Iloprost Approved, Investigational Phase 4 78919-13-8 6443959
34
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
35
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
36
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
37
Zoledronic Acid Approved Phase 4 118072-93-8 68740
38
Ethanol Approved Phase 4 64-17-5 702
39
Tranexamic Acid Approved Phase 4 1197-18-8 5526
40
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
41
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
42
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
43
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 22737-96-8, 11103-57-4, 68-26-8 9904001 445354
44
1-Deoxynojirimycin Investigational Phase 4 19130-96-2 1374
45
Tenofovir Experimental, Investigational Phase 4 147127-20-6 464205
46 Cathartics Phase 4
47 Polyethylene glycol 3350 Phase 4
48 Laxatives Phase 4
49 Vitamin B Complex Phase 4
50 Vitamin B9 Phase 4

Interventional clinical trials:

(show top 50) (show all 233)
# 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 Atropine in Laparoscopic Gynaecological Surgery (The ALGOS Trial) A Randomised, Double Blind, Controlled Trial Unknown status NCT02769325 Phase 4 Atropine;Placebo;Sevoflurane;sugammadex;Ketorolac;Morphine PCA;rocuronium;propofol
3 Effects of Parecoxib on Emergence Delirium and Postoperative Pain in Elderly Patients Undergoing Abdominal Surgery After General Anesthesia Unknown status NCT01221025 Phase 4 Parecoxib
4 COLITIS: Clostridial Infection and Oral Lavage -Improving Treatment Before Illness Becomes Severe Unknown status NCT01630096 Phase 4 Nu-Lytely
5 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
6 Preloading Magnesium Attenuate Cisplatin-induced Nephrotoxicity Completed NCT02481518 Phase 4 Magnesium
7 Comparison of Sublingual Buprenorphine With Intravenous Morphine Sulfate in Treatment of Acute Pain Due to Long Bone Fracture Completed NCT01298297 Phase 4 Buprenorphine;Morphine
8 Preemptive Analgesia With Intravenous Paracetamol for Post-cesarean Section Pain Control : A Randomized Controlled Trial Completed NCT02369133 Phase 4 paracetamol;Placebo
9 Correlation of Measured and Calculated Serum Osmolality During Mannitol or Hypertonic Saline Infusion in Patients After Craniotomy Completed NCT02037815 Phase 4 20% mannitol solution, 125 ml, IV infusion in 15 min;3.1% sodium chloride solution, 125 ml, IV infusion in 15 min
10 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
11 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
12 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
13 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
14 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
15 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
16 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
17 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
18 Does Vaccinating Health Hutterite Children Against Influenza Prevent Influenza in Other Hutterite Colony Members: A Randomized Cluster Trial Completed NCT00877396 Phase 4
19 Granisetron Effect on Hemodynamic Changes and Intubation Condition During Anesthesia Induction in Laparoscopic Cholecystectomy Completed NCT03180229 Phase 4 Granisetron 1 Mg/mL Intravenous Solution
20 The Management of Chronic Pain With Acetaminophen Four Times a Day Completed NCT02086747 Phase 4 Acetaminophen;Isotonic
21 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
22 Prophylactic Antimicrobial Catheter Lock in Hemodialysis Patients: A Randomized Controlled Clinical Trial Completed NCT00571259 Phase 4 Heparin 1000U/mL;4% Sodium Citrate with Gentamicin 320 mcg/mL
23 Efficacy and Safety of Pulpal Anesthesia After Anterior and Middle Superior Alveolar (AMSA) Nerve Block Obtained by Articaine Computer-controlled and Conventional Delivery Completed NCT02440347 Phase 4
24 The Prevention of Pain Associated With Rocuronium Injection: Effect of Pretreatment With Acetaminophen and Lidocaine Completed NCT02524743 Phase 4 acetaminophen;Lidocaine
25 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
26 Ultrasound Guidance or Electrical Nerve Stimulation for Interscalene Brachial Plexus Block: a Randomized, Controlled Trial Completed NCT00702416 Phase 4 Ropivacaine;Paracetamol;Morphine;Fentanyl
27 Budesonide Versus Fluticasone for Treatment of Eosinophilic Esophagitis Completed NCT02019758 Phase 4 Oral Viscous Budesonide;Fluticasone MDI;Placebo slurry;Placebo inhaler
28 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
29 A Randomised, Open-label, 96-week Study Comparing the Safety and Efficacy of Three Different Combination Antiretroviral Regimens as Initial Therapy for HIV Infection. Completed NCT00335322 Phase 4 Truvada (fixed dose combination of tenofovir + emtricitabine) + Stocrin (efavirenz);Truvada (fixed dose combination of tenofovir + emtricitabine)+ ritonavir/atazanavir (r/ATV);Truvada (fixed dose combination of tenofovir + emtricitabine) + zidovudine (ZDV) + abacavir (ABC)
30 Effectiveness of Triamcinolone Hexacetonide Intra-articular Injection in Interphalangeal Joints: a 12 Weeks Randomized Controlled Trial in Osteoarthritis Hand Patients Completed NCT02102620 Phase 4 Intra-articular injection with corticosteroid;Intra-articular injection with lidocaine
31 Perioperative Fluid Treatment in Colorectal Surgery Completed NCT03537989 Phase 4 Saline
32 Synergistic Enteral Regimen for Treatment of the Gangliosidoses (Syner-G) Recruiting NCT02030015 Phase 4 miglustat
33 The Effect of Ketorolac on Posterior Thoracolumbar Spinal Fusions: a Prospective Randomized Controlled Trial Recruiting NCT03278691 Phase 4 Saline;Ketorolac
34 Efficacy of Ketamine-fentanyl VS Fentanyl for Analgosedation in Postoperative Ventilated SICU Patients Recruiting NCT03879564 Phase 4 Ketamine;Normal saline
35 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
36 A Study of Peg-interferon Treatment for Nucleos(t)Ide Analogues Suppressed Chronic Hepatitis B Patients With Low Level Hepatitis Surface Antigen Recruiting NCT04035837 Phase 4 pegylated interferon-alfa
37 Intravenous Fluids in Benign Headaches Trail: A Randomized Single Blind Clinical Trial 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
38 The Different Effects of Nucleotide and Nucleoside Analogues on the Prognosis of Hepatitis B Virus-Related Hepatocellular Carcinoma Patients After Curative Resection:a Randomized Controlled Trial Recruiting NCT04032860 Phase 4 Tenofovir Disoproxil;Entecavir
39 Inhaled Iloprost and Exercise Hemodynamics and Ventricular Performance in Heart Failure With Preserved Ejection Fraction - the ILO-HOPE Clinical Trial Recruiting NCT03620526 Phase 4 Iloprost;Placebo
40 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
41 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
42 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 Not yet recruiting NCT03924414 Phase 4 Zoledronic Acid 5Mg/Bag 100Ml Inj
43 Does Bupivacaine Liposomal Injectable Suspension Decrease Post-operative Pain and Narcotic Use After Elective Orthognathic Surgery? Not yet recruiting NCT03318757 Phase 4 Bupivacaine Extended Release Liposome Injection;Bupivacaine HCl
44 Different Dermatological Approaches in Treatment of Melasma: A Split Face Randomized Clinical Trial Not yet recruiting NCT03923062 Phase 4
45 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
46 Proteomics and Stem Cell Therapy as a New Vascularization Strategy Withdrawn NCT02408991 Phase 4 Neupogen
47 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
48 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
49 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
50 Efficacy and Safety of Sci B Vac vs. Engerix in Dialysis Patients Unknown status NCT01933412 Phase 3

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
2 Mucolipidosis Iv 29

Anatomical Context for Mucolipidosis Iv

MalaCards organs/tissues related to Mucolipidosis Iv:

40
Eye, Liver, Lung, Bone, Retina, Breast, T Cells

Publications for Mucolipidosis Iv

Articles related to Mucolipidosis Iv:

(show top 50) (show all 228)
# Title Authors PMID Year
1
Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel. 54 6 61 24 56
11030752 2000
2
Identification of the gene causing mucolipidosis type IV. 24 54 6 56 61
10973263 2000
3
Mucolipidosis IV: report of a case with ocular restricted phenotype caused by leaky splice mutation. 24 61 56 6
17239335 2007
4
Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of mucolipidosis IV. 56 24 6 61
15523648 2004
5
Mapping of the mucolipidosis type IV gene to chromosome 19p and definition of founder haplotypes. 61 54 6 56
10441585 1999
6
Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population. 6 54 24 61
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 61 6 24
11013137 2000
8
Mucolipidosis IV consists of one complementation group. 56 24 61 54
10411915 1999
9
Electronegative electroretinogram in mucolipidosis IV. 61 56 24
11786056 2002
10
Regulation of endocytosis by CUP-5, the Caenorhabditis elegans mucolipin-1 homolog. 56 24 61
11326278 2001
11
Mucolipidosis type IV: characteristic MRI findings. 24 56 61
9710036 1998
12
Constitutive achlorhydria in mucolipidosis type IV. 24 56 61
9448310 1998
13
Autophagic dysfunction in mucolipidosis type IV patients. 56 61 54
18550655 2008
14
Mucolipidosis type IV: the origin of the disease in the Ashkenazi Jewish population. 56 54 61
10352940 1999
15
Mucolipidosis type IV: abnormal transport of lipids to lysosomes. 56 61 54
9323557 1997
16
Mucolipidosis type IV: clinical manifestations and natural history. 56 54 61
1789285 1991
17
ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 61 6
19888064 2009
18
Isolated ocular disease is associated with decreased mucolipin-1 channel conductance. 61 54 24
18326692 2008
19
Mucolipidosis IV 61 6
20301393 2005
20
Overexpression of wild-type and mutant mucolipin proteins in mammalian cells: effects on the late endocytic compartment organization. 24 54 61
15178326 2004
21
Caenorhabditis elegans functional orthologue of human protein h-mucolipin-1 is required for lysosome biogenesis. 24 54 61
15070744 2004
22
Molecular pathophysiology of mucolipidosis type IV: pH dysregulation of the mucolipin-1 cation channel. 24 54 61
14749347 2004
23
Identification and characterization of the single channel function of human mucolipin-1 implicated in mucolipidosis type IV, a disorder affecting the lysosomal pathway. 61 54 24
12459486 2002
24
The neurogenetics of mucolipidosis type IV. 61 24 54
12182165 2002
25
Mucolipidosis IV: novel mutation and diverse ultrastructural spectrum in the skin. 54 24 61
12368990 2002
26
Mucolipidosis type IV. 24 61 54
11461186 2001
27
Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population. 54 61 24
11317355 2001
28
Abnormal transport along the lysosomal pathway in mucolipidosis, type IV disease. 61 56
9600972 1998
29
Mucolipidosis IV: morphology and histochemistry of an autopsy case. 61 56
7876885 1995
30
Early prenatal diagnosis of mucolipidosis IV. 61 56
3425607 1987
31
Mucolipidosis type IV: clinical spectrum and natural history. 56 61
2438637 1987
32
Ocular abnormalities in mucolipidosis IV. 61 56
3918453 1985
33
Treatment of corneal opacification in mucolipidosis IV with conjunctival transplantation. 61 56
3970116 1985
34
Review article: mucolipidosis IV. 61 56
7114093 1982
35
Catalytically defective ganglioside neuraminidase in mucolipidosis IV. 61 56
6813002 1982
36
Two brothers with presumed mucolipidosis IV. 61 56
7171766 1982
37
Mucolipidosis IV, a sialolipidosis due to ganglioside sialidase deficiency. 56 61
6820444 1982
38
Mucolipidosis IV. 56 61
231746 1979
39
Mucolipidosis type IV: ganglioside sialidase deficiency. 61 56
518603 1979
40
Mucopolysaccharide accumulation in cultured skin fibroblasts derived from patients with mucolipidosis IV. 56 61
145180 1977
41
Prenatal diagnosis of mucolipidosis IV by electron microscopy. 61 56
830895 1977
42
Mucolipidosis IV. Clinical, ultrastructural, histochemical, and chemical studies of a case, including a brain biopsy. 56 61
187156 1976
43
Mucolipidosis IV: ocular, systemic, and ultrastructural findings. 61 56
166049 1975
44
Quantitative neuroimaging in mucolipidosis type IV. 61 24
24332805 2014
45
The type IV mucolipidosis-associated protein TRPML1 is an endolysosomal iron release channel. 61 24
18794901 2008
46
Carrier screening in individuals of Ashkenazi Jewish descent. 6
18197057 2008
47
Basis of lethality in C. elegans lacking CUP-5, the Mucolipidosis Type IV orthologue. 61 24
16530747 2006
48
The molecular basis of mucolipidosis type IV. 61 24
12125810 2002
49
Noninvasive diagnosis and ophthalmic features of mucolipidosis type IV. 61 24
11874766 2002
50
Rapid detection of the two common mutations in Ashkenazi Jewish patients with mucolipidosis type IV. 24 61
11551108 2001

Variations for Mucolipidosis Iv

ClinVar genetic disease variations for Mucolipidosis Iv:

6 (show top 50) (show all 96) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MCOLN1 NM_020533.3(MCOLN1):c.304C>T (p.Arg102Ter)SNV Pathogenic 5136 rs121908373 19:7591391-7591391 19:7526505-7526505
2 MCOLN1 NM_020533.3(MCOLN1):c.1207C>T (p.Arg403Cys)SNV Pathogenic 5137 rs121908374 19:7594059-7594059 19:7529173-7529173
3 MCOLN1 MCOLN1, 93-BP INS, NT236insertion Pathogenic 5138
4 MCOLN1 MCOLN1, 1704A-TSNV Pathogenic 5139
5 MCOLN1 NM_020533.3(MCOLN1):c.163_197delinsTCA (p.Lys55fs)indel Pathogenic 208026 rs797044820 19:7589978-7590012 19:7525092-7525126
6 MCOLN1 NM_020533.3(MCOLN1):c.235C>T (p.Gln79Ter)SNV Pathogenic 208042 rs797044832 19:7590050-7590050 19:7525164-7525164
7 MCOLN1 NM_020533.2(MCOLN1):c.236_237insNC_012920.1:m.12435_12527 (p.Gln79delinsHisHisTyrValLysSerIleValAlaSerThrPheIleIleSerLeuPheProThrThrIlePheMetCysLeuAspGlnGluValIleIleSer)insertion Pathogenic 208037 19:7590051-7590052 19:7525165-7525166
8 MCOLN1 NM_020533.3(MCOLN1):c.302_303del (p.Phe101fs)deletion Pathogenic 208038 rs797044830 19:7591389-7591390 19:7526503-7526504
9 MCOLN1 NM_020533.3(MCOLN1):c.317T>C (p.Leu106Pro)SNV Pathogenic 208031 rs797044825 19:7591404-7591404 19:7526518-7526518
10 MCOLN1 NM_020533.3(MCOLN1):c.473_474del (p.Thr158fs)deletion Pathogenic 208027 rs797044821 19:7591714-7591715 19:7526828-7526829
11 MCOLN1 NM_020533.3(MCOLN1):c.497G>T (p.Cys166Phe)SNV Pathogenic 208032 rs797044826 19:7591738-7591738 19:7526852-7526852
12 MCOLN1 NM_020533.3(MCOLN1):c.1210dup (p.Tyr404fs)duplication Pathogenic 208028 rs797044822 19:7594062-7594062 19:7529176-7529176
13 MCOLN1 NM_020533.3(MCOLN1):c.1219_1221TTC[1] (p.Phe408del)short repeat Pathogenic 208022 rs797044817 19:7594073-7594075 19:7529187-7529189
14 MCOLN1 NM_020533.3(MCOLN1):c.1336G>T (p.Val446Leu)SNV Pathogenic 208033 rs754097561 19:7594575-7594575 19:7529689-7529689
15 MCOLN1 NM_020533.3(MCOLN1):c.1340T>C (p.Leu447Pro)SNV Pathogenic 208034 rs797044827 19:7594579-7594579 19:7529693-7529693
16 MCOLN1 NM_020533.3(MCOLN1):c.1388G>A (p.Cys463Tyr)SNV Pathogenic 208036 rs797044829 19:7595200-7595200 19:7530314-7530314
17 MCOLN1 NM_020533.3(MCOLN1):c.1395C>G (p.Phe465Leu)SNV Pathogenic 208035 rs797044828 19:7595207-7595207 19:7530321-7530321
18 MCOLN1 NM_020533.3(MCOLN1):c.1406A>G (p.Asn469Ser)SNV Pathogenic 208023 rs797044818 19:7595218-7595218 19:7530332-7530332
19 MCOLN1 NM_020533.3(MCOLN1):c.1453_1463dup (p.Ser488fs)duplication Pathogenic 208029 rs797044823 19:7595265-7595275 19:7530379-7530389
20 MCOLN1 NM_020533.3(MCOLN1):c.1615del (p.Ala539fs)deletion Pathogenic 208025 rs1555742780 19:7598448-7598448 19:7533562-7533562
21 MCOLN1 NM_020533.3(MCOLN1):c.1704A>T (p.Gly568=)SNV Pathogenic 208024 rs751298168 19:7598537-7598537 19:7533651-7533651
22 MCOLN1 AF287270:g.511_6943delundetermined variant Pathogenic 208020
23 MCOLN1 NM_020533.3(MCOLN1):c.406-2A>GSNV Pathogenic 5131 rs104886461 19:7591645-7591645 19:7526759-7526759
24 MCOLN1 nsv1067863deletion Pathogenic 5132 19:7586622-7593055 19:7521736-7528169
25 MCOLN1 MCOLN1, 3-BP DEL, 1346CTTdeletion Pathogenic 5134
26 MCOLN1 NC_000019.9:g.(?_7587617)_(7593163_?)deldeletion Pathogenic 528767 19:7587617-7593163 19:7522731-7528277
27 MCOLN1 NM_020533.3(MCOLN1):c.445dup (p.Tyr149fs)duplication Pathogenic 661439 19:7591686-7591686 19:7526800-7526800
28 MCOLN1 NM_020533.3(MCOLN1):c.1047dup (p.Phe350fs)duplication Pathogenic/Likely pathogenic 370970 rs1057516904 19:7593769-7593769 19:7528883-7528883
29 MCOLN1 NM_020533.3(MCOLN1):c.1084G>T (p.Asp362Tyr)SNV Pathogenic/Likely pathogenic 5135 rs121908372 19:7593806-7593806 19:7528920-7528920
30 MCOLN1 NM_020533.3(MCOLN1):c.964C>T (p.Arg322Ter)SNV Pathogenic/Likely pathogenic 5133 rs121908371 19:7593569-7593569 19:7528683-7528683
31 MCOLN1 NM_020533.3(MCOLN1):c.920del (p.Leu307fs)deletion Pathogenic/Likely pathogenic 208039 rs755042147 19:7593525-7593525 19:7528639-7528639
32 MCOLN1 NM_020533.3(MCOLN1):c.54dup (p.Asn19fs)duplication Likely pathogenic 370580 rs1057516602 19:7589869-7589869 19:7524983-7524983
33 MCOLN1 NM_020533.3(MCOLN1):c.681-2A>GSNV Likely pathogenic 371671 rs1057517453 19:7592748-7592748 19:7527862-7527862
34 MCOLN1 NM_020533.3(MCOLN1):c.855_856insA (p.His286fs)insertion Likely pathogenic 371144 rs1057517040 19:7593121-7593122 19:7528235-7528236
35 MCOLN1 NM_020533.3(MCOLN1):c.984+1G>ASNV Likely pathogenic 371019 rs767950930 19:7593590-7593590 19:7528704-7528704
36 MCOLN1 NM_020533.3(MCOLN1):c.1135-2A>GSNV Likely pathogenic 371520 rs1057517335 19:7593985-7593985 19:7529099-7529099
37 MCOLN1 NM_020533.3(MCOLN1):c.1135-1G>ASNV Likely pathogenic 371113 rs1057516458 19:7593986-7593986 19:7529100-7529100
38 MCOLN1 NM_020533.3(MCOLN1):c.1135-1G>CSNV Likely pathogenic 370398 rs1057516458 19:7593986-7593986 19:7529100-7529100
39 MCOLN1 NM_020533.3(MCOLN1):c.1447C>T (p.Gln483Ter)SNV Likely pathogenic 370494 rs1057516531 19:7595259-7595259 19:7530373-7530373
40 MCOLN1 NM_020533.3(MCOLN1):c.31+1G>ASNV Likely pathogenic 370118 rs1057516246 19:7587668-7587668 19:7522782-7522782
41 MCOLN1 NM_020533.3(MCOLN1):c.1134+2T>CSNV Likely pathogenic 555566 rs1555742162 19:7593858-7593858 19:7528972-7528972
42 MCOLN1 NM_020533.3(MCOLN1):c.32-2A>GSNV Likely pathogenic 555282 rs1555741545 19:7589845-7589845 19:7524959-7524959
43 MCOLN1 NM_020533.3(MCOLN1):c.38_41dup (p.Leu15fs)duplication Likely pathogenic 550237 rs1555741548 19:7589850-7589850 19:7524967-7524970
44 MCOLN1 NM_020533.3(MCOLN1):c.973_984+10deldeletion Likely pathogenic 555937 rs779141908 19:7593569-7593591 19:7528692-7528713
45 MCOLN1 NM_020533.3(MCOLN1):c.514C>T (p.Arg172Ter)SNV Likely pathogenic 208030 rs797044824 19:7591755-7591755 19:7526869-7526869
46 MCOLN1 NM_020533.3(MCOLN1):c.694A>C (p.Thr232Pro)SNV Likely pathogenic 208021 rs767122713 19:7592763-7592763 19:7527877-7527877
47 MCOLN1 NM_020533.3(MCOLN1):c.571+2T>CSNV Likely pathogenic 554026 rs1555741822 19:7591814-7591814 19:7526928-7526928
48 MCOLN1 NM_020533.3(MCOLN1):c.782C>T (p.Thr261Met)SNV Conflicting interpretations of pathogenicity 283177 rs73003348 19:7593048-7593048 19:7528162-7528162
49 MCOLN1 NM_020533.3(MCOLN1):c.16G>T (p.Gly6Cys)SNV Uncertain significance 330485 rs61736595 19:7587652-7587652 19:7522766-7522766
50 MCOLN1 NM_020533.3(MCOLN1):c.1719G>A (p.Glu573=)SNV Uncertain significance 330506 rs201076545 19:7598657-7598657 19:7533771-7533771

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
13.02 TRPV6 TRPV4 TRPV3 TRPM6 TRPC6 TRPC3
2
Show member pathways
13 TRPV6 TRPV4 TRPV3 TRPM6 TRPC6 TRPC3
3
Show member pathways
12.19 TRPV6 TRPV4 TRPV3 TRPM6 TRPC6 TRPC3
4 11.74 NPC2 NPC1 MCOLN1 LAMP1 HEXA
5
Show member pathways
11.46 TRPC6 TRPC3 TRPC1
6 11.02 TRPC6 TRPC3 MTOR
7 10.72 TRPV6 TRPV4 TRPV3 TRPM6 TRPC6 TRPC3
8
Show member pathways
10.58 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 membrane GO:0016020 10.36 VAC14 TRPV6 TRPV4 TRPV3 TRPM6 TRPC6
2 integral component of membrane GO:0016021 10.31 TRPV6 TRPV4 TRPV3 TRPM6 TRPC6 TRPC3
3 plasma membrane GO:0005886 10.29 TRPV6 TRPV4 TRPV3 TRPM6 TRPC6 TRPC3
4 integral component of plasma membrane GO:0005887 10.07 TRPV6 TRPV4 TRPV3 TRPC6 TRPC3 TRPC1
5 endosome GO:0005768 9.93 VAC14 NPC1 MCOLN3 MCOLN2 MCOLN1 LAMP1
6 cell GO:0005623 9.9 TRPV6 TRPV4 TRPC6 TRPC3 TRPC1 TPCN2
7 lysosomal membrane GO:0005765 9.87 TPCN2 NPC1 MTOR MCOLN3 MCOLN2 MCOLN1
8 endosome membrane GO:0010008 9.8 VAC14 TPCN2 MCOLN1 LAMP1
9 late endosome membrane GO:0031902 9.73 VAC14 NPC1 MCOLN3 MCOLN2 MCOLN1 LAMP1
10 lysosome GO:0005764 9.28 TPCN2 NPC2 NPC1 MTOR MCOLN3 MCOLN2
11 cation channel complex GO:0034703 9.26 TRPC6 TRPC3 TRPC1 PKD2

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.97 TRPV6 TRPV4 TRPV3 TRPM6 TRPC6 TRPC3
2 ion transport GO:0006811 9.93 TRPV6 TRPV4 TRPV3 TRPM6 TRPC6 TRPC3
3 ion transmembrane transport GO:0034220 9.86 TRPV6 TRPV4 TRPV3 TRPM6 TPCN2 MCOLN3
4 cellular calcium ion homeostasis GO:0006874 9.75 TRPV4 TPCN2 PKD2
5 cation transmembrane transport GO:0098655 9.73 TRPM6 MCOLN3 MCOLN2 MCOLN1
6 release of sequestered calcium ion into cytosol GO:0051209 9.72 TPCN2 PKD2 MCOLN3 MCOLN2 MCOLN1
7 cation transport GO:0006812 9.7 TRPM6 TRPC6 MCOLN1
8 calcium ion transport GO:0006816 9.7 TRPV6 TRPV4 TRPV3 TRPM6 TRPC6 TRPC3
9 response to calcium ion GO:0051592 9.69 TRPV6 TRPC3 TRPC1
10 regulation of cytosolic calcium ion concentration GO:0051480 9.65 TRPC6 TRPC3 TRPC1
11 cholesterol efflux GO:0033344 9.58 NPC2 NPC1
12 manganese ion transport GO:0006828 9.58 TRPC6 TRPC3 TRPC1
13 negative regulation of macroautophagy GO:0016242 9.57 NPC1 MTOR
14 positive regulation of monocyte chemotactic protein-1 production GO:0071639 9.56 TRPV4 MCOLN2
15 cellular response to osmotic stress GO:0071470 9.55 TRPV4 PKD2
16 intracellular cholesterol transport GO:0032367 9.54 NPC2 NPC1
17 positive regulation of chemokine (C-C motif) ligand 5 production GO:0071651 9.49 TRPV4 MCOLN2
18 positive regulation of macrophage inflammatory protein 1 alpha production GO:0071642 9.46 TRPV4 MCOLN2
19 calcium ion transmembrane transport GO:0070588 9.4 TRPV6 TRPV4 TRPV3 TRPM6 TRPC6 TRPC3

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 9.65 TRPV6 TRPV4 TRPV3 TRPM6 TRPC6
2 cation channel activity GO:0005261 9.61 TRPV4 TRPV3 TRPM6 TRPC6 TRPC1 PKD2
3 inositol 1,4,5 trisphosphate binding GO:0070679 9.54 TRPC6 TRPC3 TRPC1
4 store-operated calcium channel activity GO:0015279 9.5 TRPC6 TRPC3 TRPC1
5 NAADP-sensitive calcium-release channel activity GO:0072345 9.46 TPCN2 MCOLN3 MCOLN2 MCOLN1
6 actinin binding GO:0042805 9.4 TRPC6 PKD2
7 calcium channel activity GO:0005262 9.32 TRPV6 TRPV4 TRPV3 TRPM6 TRPC6 TRPC3

Sources for Mucolipidosis Iv

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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