ML4
MCID: MCL013
MIFTS: 66

Mucolipidosis Iv (ML4)

Categories: Blood diseases, Bone diseases, Cardiovascular 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 6
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 niemann-pick disease and glycoproteinosis, 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 parecoxib have been mentioned in the context of this disorder. Affiliated tissues include eye, breast and liver, and related phenotypes are intellectual disability and corneal opacity

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 82)
# Related Disease Score Top Affiliating Genes
1 niemann-pick disease 30.5 NPC2 NPC1 LAMP1
2 glycoproteinosis 30.5 MCOLN1 LAMP1
3 niemann-pick disease, type c1 30.4 NPC2 NPC1 LAMP1
4 lysosomal storage disease 30.3 NPC2 NPC1 MCOLN1 HEXA CLCN7
5 tay-sachs disease 30.2 NPC2 NPC1 MCOLN1 HEXA
6 neuronal ceroid lipofuscinosis 29.9 TFEB NPC2 MCOLN1 LAMP1
7 mucolipidosis 29.9 TPCN2 TFEB PIKFYVE NPC2 NPC1 MTOR
8 mucolipidoses 11.7
9 niemann-pick disease type c, juvenile neurologic onset 10.4 NPC2 NPC1
10 niemann-pick disease type c, adult neurologic onset 10.4 NPC2 NPC1
11 niemann-pick disease type c, severe early infantile neurologic onset 10.4 NPC2 NPC1
12 niemann-pick disease type c, late infantile neurologic onset 10.4 NPC2 NPC1
13 niemann-pick disease type c, severe perinatal form 10.4 NPC2 NPC1
14 lysosomal and lipase deficiency 10.2 TFEB NPC2 NPC1
15 mucopolysaccharidosis, type iiia 10.2 TFEB MCOLN1 LAMP1
16 yunis-varon syndrome 10.2 TPCN2 PIKFYVE MCOLN1
17 spondylometaphyseal dysplasia, kozlowski type 10.2 TRPV4 MCOLN1
18 sandhoff disease 10.2 NPC2 NPC1 HEXA
19 lysosomal acid lipase deficiency 10.2 TFEB NPC2 NPC1
20 autosomal recessive disease 10.2
21 retinal degeneration 10.2
22 spondyloepiphyseal dysplasia, maroteaux type 10.2 TRPV4 TRPC1
23 gm2 gangliosidosis 10.2 NPC2 NPC1 MCOLN1 HEXA
24 metatropic dysplasia 10.2 TRPV4 TRPV3 MCOLN1
25 metachromatic leukodystrophy 10.1 NPC2 NPC1 HEXA
26 cerebral palsy 10.1
27 lipid storage disease 10.1 NPC2 NPC1 MCOLN1
28 polycystic liver disease 10.1 TRPV4 PKD2 MTOR
29 ceroid lipofuscinosis, neuronal, 3 10.1 TFEB NPC2 MCOLN1 LAMP1
30 niemann-pick disease, type b 10.1 NPC2 NPC1
31 strabismus 10.1
32 neuraminidase deficiency 10.1
33 3-methylglutaconic aciduria, type iii 10.1
34 yemenite deaf-blind hypopigmentation syndrome 10.1
35 iron metabolism disease 10.1
36 fundus dystrophy 10.1
37 mechanical strabismus 10.1
38 hypotonia 10.1
39 inherited retinal disorder 10.1
40 c syndrome 10.1 TFEB NPC2 NPC1 LAMP1
41 brachyolmia 10.1 TRPV4 TRPV3 TRPC1
42 niemann-pick disease, type c2 10.0 NPC2 NPC1
43 dentin sensitivity 10.0 TRPV4 TRPV3 TRPM3
44 amyotrophic lateral sclerosis 1 10.0
45 polycystic kidney disease 1 with or without polycystic liver disease 10.0
46 vici syndrome 10.0
47 fabry disease 10.0
48 polycystic kidney disease 2 with or without polycystic liver disease 10.0
49 vitamin b12 deficiency 10.0
50 ptosis 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 corneal opacity 58 31 hallmark (90%) Very frequent (99-80%) HP:0007957
3 photophobia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000613
4 retinopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000488
5 gait disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0001288
6 aplasia/hypoplasia of the abdominal wall musculature 58 31 hallmark (90%) Very frequent (99-80%) HP:0010318
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 hyperreflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001347
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 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
14 eeg abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0002353
15 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
16 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
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 global developmental delay 31 HP:0001263
28 behavioral abnormality 58 Very frequent (99-80%)
29 visual impairment 31 HP:0000505
30 optic atrophy 31 HP:0000648
31 spastic tetraplegia 31 HP:0002510
32 opacification of the corneal stroma 31 HP:0007759
33 abnormality of ganglioside metabolism 58 Very frequent (99-80%)
34 dystonia 31 HP:0001332
35 babinski sign 31 HP:0003487
36 cerebellar atrophy 31 HP:0001272
37 progressive neurologic deterioration 31 HP:0002344
38 retinal degeneration 31 HP:0000546
39 generalized hypotonia 31 HP:0001290
40 cerebral dysmyelination 31 HP:0007266
41 dysplastic corpus callosum 31 HP:0006989
42 achlorhydria 31 HP:0032448
43 hypergastrinemia 31 HP:0500167
44 abnormality of abdomen morphology 31 HP:0001438
45 decreased light- and dark-adapted electroretinogram amplitude 31 HP:0000654

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Head:
microcephaly

Neurologic Central Nervous System:
hyperreflexia
dystonia
dysplastic corpus callosum
hypotonia
mental retardation
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 Eyes:
optic atrophy
photophobia
strabismus
corneal clouding
corneal opacities
more
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 9.02 CLCN7 HEXA MCOLN2 PKD2 TPCN2

MGI Mouse Phenotypes related to Mucolipidosis Iv:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.34 CLCN7 HEXA MCOLN1 MCOLN3 MTOR NPC1
2 growth/size/body region MP:0005378 10.32 CLCN7 HEXA LAMP1 MCOLN1 MCOLN3 MTOR
3 hematopoietic system MP:0005397 10.23 CLCN7 MCOLN1 MCOLN2 MTOR NPC1 NPC2
4 homeostasis/metabolism MP:0005376 10.21 CLCN7 HEXA MCOLN1 MCOLN2 MTOR NPC1
5 immune system MP:0005387 10.18 CLCN7 MCOLN1 MCOLN2 MTOR NPC1 NPC2
6 mortality/aging MP:0010768 10.13 CLCN7 HEXA LAMP1 MCOLN1 MCOLN3 MTOR
7 nervous system MP:0003631 10.1 CLCN7 HEXA LAMP1 MCOLN1 MCOLN3 MTOR
8 integument MP:0010771 10.07 CLCN7 LAMP1 MCOLN1 MCOLN3 NPC1 PIKFYVE
9 normal MP:0002873 9.81 CLCN7 LAMP1 MTOR NPC1 PIKFYVE PKD2
10 renal/urinary system MP:0005367 9.5 CLCN7 HEXA MCOLN1 MTOR PIKFYVE PKD2
11 respiratory system MP:0005388 9.17 CLCN7 MTOR NPC1 NPC2 PIKFYVE PKD2

Drugs & Therapeutics for Mucolipidosis Iv

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

(show top 50) (show all 401)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Atropine Approved, Vet_approved Phase 4 51-55-8, 5908-99-6 174174
2
parecoxib Approved Phase 4 198470-84-7
3
leucovorin Approved Phase 4 58-05-9 6006 143
4
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
5
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
6
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 4 7487-88-9 24083
7
Oxaliplatin Approved, Investigational Phase 4 61825-94-3 43805 6857599 5310940 9887054
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
Fluorouracil Approved Phase 4 51-21-8 3385
11
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
12
Racepinephrine Approved Phase 4 329-65-7 838
13
Pregabalin Approved, Investigational Phase 4 148553-50-8 5486971
14
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
15
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
16
Histamine Approved, Investigational Phase 4 51-45-6 774
17
Omalizumab Approved, Investigational Phase 4 242138-07-4
18
Ketoprofen Approved, Vet_approved Phase 4 22071-15-4 3825
19
Sufentanil Approved, Investigational Phase 4 56030-54-7 41693
20
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
21
Granisetron Approved, Investigational Phase 4 109889-09-0 3510
22
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
23
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
24
Chlorhexidine Approved, Vet_approved Phase 4 55-56-1 9552079 2713
25
Sodium citrate Approved, Investigational Phase 4 68-04-2
26
Leuprolide Approved, Investigational Phase 4 53714-56-0 657181 3911
27
Thiopental Approved, Vet_approved Phase 4 76-75-5 3000715
28
Fluticasone Approved, Experimental Phase 4 90566-53-3 62924
29
Budesonide Approved Phase 4 51333-22-3 63006 5281004
30
Abacavir Approved, Investigational Phase 4 136470-78-5 441300 65140
31
Efavirenz Approved, Investigational Phase 4 154598-52-4 64139
32
Emtricitabine Approved, Investigational Phase 4 143491-57-0 60877
33
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
34
Zidovudine Approved Phase 4 30516-87-1 35370
35
Miglustat Approved Phase 4 72599-27-0 51634
36
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
37
Entecavir Approved, Investigational Phase 4 142217-69-4 153941
38
Menotropins Approved Phase 4 61489-71-2, 9002-68-0 5360545
39
Iloprost Approved, Investigational Phase 4 78919-13-8 6443959
40
Zoledronic Acid Approved Phase 4 118072-93-8 68740
41
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
42
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
43
Tranexamic Acid Approved Phase 4 1197-18-8 5526
44
Ethanol Approved Phase 4 64-17-5 702
45
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
46
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
47
Tenofovir Experimental, Investigational Phase 4 147127-20-6 464205
48 Cyclooxygenase 2 Inhibitors Phase 4
49 Dopamine Antagonists Phase 4
50 Histamine Antagonists Phase 4

Interventional clinical trials:

(show top 50) (show all 245)
# 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 Intravenous Fluids in Benign Headaches Trail: A Randomized Single Blind Clinical Trial Unknown status 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
5 COLITIS: Clostridial Infection and Oral Lavage -Improving Treatment Before Illness Becomes Severe Unknown status NCT01630096 Phase 4 Nu-Lytely
6 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
7 Preloading Magnesium Attenuate Cisplatin-induced Nephrotoxicity Completed NCT02481518 Phase 4 Magnesium
8 Comparison of Sublingual Buprenorphine With Intravenous Morphine Sulfate in Treatment of Acute Pain Due to Long Bone Fracture Completed NCT01298297 Phase 4 Buprenorphine;Morphine
9 Preemptive Analgesia With Intravenous Paracetamol for Post-cesarean Section Pain Control : A Randomized Controlled Trial Completed NCT02369133 Phase 4 paracetamol;Placebo
10 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
11 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
12 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
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 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
15 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
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 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
19 Does Vaccinating Health Hutterite Children Against Influenza Prevent Influenza in Other Hutterite Colony Members: A Randomized Cluster Trial Completed NCT00877396 Phase 4
20 Granisetron Effect on Hemodynamic Changes and Intubation Condition During Anesthesia Induction in Laparoscopic Cholecystectomy Completed NCT03180229 Phase 4 Granisetron 1 Mg/mL Intravenous Solution
21 The Management of Chronic Pain With Acetaminophen Four Times a Day Completed NCT02086747 Phase 4 Acetaminophen;Isotonic
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 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 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
25 A Multicenter, Open, Prospective Study to Evaluate the Safety and Efficacy of Leuprorelin Acetate DPS (Leuplin DPS) Treatment Quarterly in Patients With Central Precocious Puberty Completed NCT03316482 Phase 4 Leuplin DPS 11.25mg
26 The Prevention of Pain Associated With Rocuronium Injection: Effect of Pretreatment With Acetaminophen and Lidocaine Completed NCT02524743 Phase 4 acetaminophen;Lidocaine
27 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
28 Budesonide Versus Fluticasone for Treatment of Eosinophilic Esophagitis Completed NCT02019758 Phase 4 Oral Viscous Budesonide;Fluticasone MDI;Placebo slurry;Placebo inhaler
29 Ultrasound Guidance or Electrical Nerve Stimulation for Interscalene Brachial Plexus Block: a Randomized, Controlled Trial Completed NCT00702416 Phase 4 Ropivacaine;Paracetamol;Morphine;Fentanyl
30 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
31 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)
32 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
33 Perioperative Fluid Treatment in Colorectal Surgery Completed NCT03537989 Phase 4 Saline
34 Synergistic Enteral Regimen for Treatment of the Gangliosidoses (Syner-G) Recruiting NCT02030015 Phase 4 miglustat
35 The Effect of Ketorolac on Posterior Thoracolumbar Spinal Fusions: a Prospective Randomized Controlled Trial Recruiting NCT03278691 Phase 4 Saline;Ketorolac
36 Efficacy of Ketamine-fentanyl VS Fentanyl for Analgosedation in Postoperative Ventilated SICU Patients Recruiting NCT03879564 Phase 4 Ketamine;Normal saline
37 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
38 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
39 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
40 Follicle Stimulating Hormone (FSH) Followed by Human Menopausal Gonadotropin (HMG) Versus FSH Plus HMG During Controlled Ovarian Stimulation for in Vitro Fertilization Recruiting NCT04385342 Phase 4 FSH;HP-hMG
41 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
42 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
43 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 Enrolling by invitation NCT03924414 Phase 4 Zoledronic Acid 5Mg/Bag 100Ml Inj
44 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
45 Different Dermatological Approaches in Treatment of Melasma: A Split Face Randomized Clinical Trial Not yet recruiting NCT03923062 Phase 4
46 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
47 Does Bupivacaine Liposomal Injectable Suspension Decrease Post-operative Pain and Narcotic Use After Elective Orthognathic Surgery? Withdrawn NCT03318757 Phase 4 Bupivacaine Extended Release Liposome Injection;Bupivacaine HCl
48 Proteomics and Stem Cell Therapy as a New Vascularization Strategy Withdrawn NCT02408991 Phase 4 Neupogen
49 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
50 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

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

Publications for Mucolipidosis Iv

Articles related to Mucolipidosis Iv:

(show top 50) (show all 232)
# Title Authors PMID Year
1
Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel. 54 6 24 56 61
11030752 2000
2
Identification of the gene causing mucolipidosis type IV. 24 54 6 61 56
10973263 2000
3
Mucolipidosis IV: report of a case with ocular restricted phenotype caused by leaky splice mutation. 61 24 56 6
17239335 2007
4
Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of mucolipidosis IV. 24 56 6 61
15523648 2004
5
Mapping of the mucolipidosis type IV gene to chromosome 19p and definition of founder haplotypes. 6 56 54 61
10441585 1999
6
Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population. 24 6 54 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. 6 24 54 61
11013137 2000
8
Mucolipidosis IV consists of one complementation group. 61 54 56 24
10411915 1999
9
Electronegative electroretinogram in mucolipidosis IV. 24 61 56
11786056 2002
10
Regulation of endocytosis by CUP-5, the Caenorhabditis elegans mucolipin-1 homolog. 61 56 24
11326278 2001
11
Mucolipidosis type IV: characteristic MRI findings. 56 61 24
9710036 1998
12
Constitutive achlorhydria in mucolipidosis type IV. 61 56 24
9448310 1998
13
Autophagic dysfunction in mucolipidosis type IV patients. 54 61 56
18550655 2008
14
Mucolipidosis type IV: the origin of the disease in the Ashkenazi Jewish population. 61 56 54
10352940 1999
15
Mucolipidosis type IV: abnormal transport of lipids to lysosomes. 56 54 61
9323557 1997
16
Mucolipidosis type IV: clinical manifestations and natural history. 54 61 56
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. 54 24 61
18326692 2008
19
Mucolipidosis IV 6 61
20301393 2005
20
Overexpression of wild-type and mutant mucolipin proteins in mammalian cells: effects on the late endocytic compartment organization. 61 54 24
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. 24 61 54
12182165 2002
25
Mucolipidosis IV: novel mutation and diverse ultrastructural spectrum in the skin. 24 61 54
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. 61 54 24
11317355 2001
28
Abnormal transport along the lysosomal pathway in mucolipidosis, type IV disease. 56 61
9600972 1998
29
Mucolipidosis IV: morphology and histochemistry of an autopsy case. 61 56
7876885 1995
30
Early prenatal diagnosis of mucolipidosis IV. 56 61
3425607 1987
31
Mucolipidosis type IV: clinical spectrum and natural history. 61 56
2438637 1987
32
Treatment of corneal opacification in mucolipidosis IV with conjunctival transplantation. 61 56
3970116 1985
33
Ocular abnormalities in mucolipidosis IV. 61 56
3918453 1985
34
Review article: mucolipidosis IV. 61 56
7114093 1982
35
Catalytically defective ganglioside neuraminidase in mucolipidosis IV. 61 56
6813002 1982
36
Mucolipidosis IV, a sialolipidosis due to ganglioside sialidase deficiency. 61 56
6820444 1982
37
Two brothers with presumed mucolipidosis IV. 56 61
7171766 1982
38
Mucolipidosis IV. 61 56
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. 61 56
145180 1977
41
Prenatal diagnosis of mucolipidosis IV by electron microscopy. 56 61
830895 1977
42
Mucolipidosis IV. Clinical, ultrastructural, histochemical, and chemical studies of a case, including a brain biopsy. 61 56
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. 24 61
16530747 2006
48
The molecular basis of mucolipidosis type IV. 24 61
12125810 2002
49
Noninvasive diagnosis and ophthalmic features of mucolipidosis type IV. 24 61
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 181) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MCOLN1 NC_000019.10:g.(?_7522731)_(7528277_?)deldeletion Pathogenic 528767 19:7587617-7593163 19:7522731-7528277
2 MCOLN1 NM_020533.3(MCOLN1):c.445dup (p.Tyr149fs)duplication Pathogenic 661439 19:7591685-7591686 19:7526799-7526800
3 MCOLN1 NM_020533.3(MCOLN1):c.192C>A (p.Cys64Ter)SNV Pathogenic 836263 19:7590007-7590007 19:7525121-7525121
4 MCOLN1 NM_020533.3(MCOLN1):c.878_879GA[1] (p.Asp294fs)short repeat Pathogenic 860465 19:7593483-7593484 19:7528597-7528598
5 MCOLN1 NM_020533.3(MCOLN1):c.680+1G>ASNV Pathogenic 813499 19:7592515-7592515 19:7527629-7527629
6 MCOLN1 NM_020533.3(MCOLN1):c.304C>T (p.Arg102Ter)SNV Pathogenic 5136 rs121908373 19:7591391-7591391 19:7526505-7526505
7 MCOLN1 NM_020533.3(MCOLN1):c.1207C>T (p.Arg403Cys)SNV Pathogenic 5137 rs121908374 19:7594059-7594059 19:7529173-7529173
8 MCOLN1 MCOLN1, 93-BP INS, NT236insertion Pathogenic 5138
9 MCOLN1 MCOLN1, 1704A-TSNV Pathogenic 5139
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.235C>T (p.Gln79Ter)SNV Pathogenic 208042 rs797044832 19:7590050-7590050 19:7525164-7525164
12 MCOLN1 NM_020533.2(MCOLN1):c.236_237insNC_012920.1:m.12435_12527 (p.Gln79delinsHisHisTyrValLysSerIleValAlaSerThrPheIleIleSerLeuPheProThrThrIlePheMetCysLeuAspGlnGluValIleIleSer)insertion Pathogenic 208037 19:7590051-7590052 19:7525165-7525166
13 MCOLN1 NM_020533.3(MCOLN1):c.302_303del (p.Phe101fs)deletion Pathogenic 208038 rs797044830 19:7591389-7591390 19:7526503-7526504
14 MCOLN1 NM_020533.3(MCOLN1):c.317T>C (p.Leu106Pro)SNV Pathogenic 208031 rs797044825 19:7591404-7591404 19:7526518-7526518
15 MCOLN1 NM_020533.3(MCOLN1):c.473_474del (p.Thr158fs)deletion Pathogenic 208027 rs797044821 19:7591714-7591715 19:7526828-7526829
16 MCOLN1 NM_020533.3(MCOLN1):c.497G>T (p.Cys166Phe)SNV Pathogenic 208032 rs797044826 19:7591738-7591738 19:7526852-7526852
17 MCOLN1 NM_020533.3(MCOLN1):c.1210dup (p.Tyr404fs)duplication Pathogenic 208028 rs797044822 19:7594061-7594062 19:7529175-7529176
18 MCOLN1 NM_020533.3(MCOLN1):c.1219_1221TTC[1] (p.Phe408del)short repeat Pathogenic 208022 rs797044817 19:7594070-7594072 19:7529184-7529186
19 MCOLN1 NM_020533.3(MCOLN1):c.1336G>T (p.Val446Leu)SNV Pathogenic 208033 rs754097561 19:7594575-7594575 19:7529689-7529689
20 MCOLN1 NM_020533.3(MCOLN1):c.1340T>C (p.Leu447Pro)SNV Pathogenic 208034 rs797044827 19:7594579-7594579 19:7529693-7529693
21 MCOLN1 NM_020533.3(MCOLN1):c.1388G>A (p.Cys463Tyr)SNV Pathogenic 208036 rs797044829 19:7595200-7595200 19:7530314-7530314
22 MCOLN1 NM_020533.3(MCOLN1):c.1395C>G (p.Phe465Leu)SNV Pathogenic 208035 rs797044828 19:7595207-7595207 19:7530321-7530321
23 MCOLN1 NM_020533.3(MCOLN1):c.1406A>G (p.Asn469Ser)SNV Pathogenic 208023 rs797044818 19:7595218-7595218 19:7530332-7530332
24 MCOLN1 NM_020533.3(MCOLN1):c.1453_1463dup (p.Ser488fs)duplication Pathogenic 208029 rs797044823 19:7595256-7595257 19:7530370-7530371
25 MCOLN1 NM_020533.3(MCOLN1):c.1615del (p.Ala539fs)deletion Pathogenic 208025 rs1555742780 19:7598447-7598447 19:7533561-7533561
26 MCOLN1 NM_020533.3(MCOLN1):c.1704A>T (p.Gly568=)SNV Pathogenic 208024 rs751298168 19:7598537-7598537 19:7533651-7533651
27 MCOLN1 AF287270:g.511_6943deldeletion Pathogenic 208020
28 MCOLN1 NM_020533.3(MCOLN1):c.406-2A>GSNV Pathogenic 5131 rs104886461 19:7591645-7591645 19:7526759-7526759
29 MCOLN1 NG_015806.1:g.4127_10560del6434deletion Pathogenic 5132 19:7586622-7593055 19:7521736-7528169
30 MCOLN1 MCOLN1, 3-BP DEL, 1346CTTdeletion Pathogenic 5134
31 MCOLN1 NM_020533.3(MCOLN1):c.1084G>T (p.Asp362Tyr)SNV Pathogenic/Likely pathogenic 5135 rs121908372 19:7593806-7593806 19:7528920-7528920
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>ASNV Pathogenic/Likely pathogenic 371019 rs767950930 19:7593590-7593590 19:7528704-7528704
35 MCOLN1 NM_020533.3(MCOLN1):c.1047dup (p.Phe350fs)duplication Pathogenic/Likely pathogenic 370970 rs1057516904 19:7593767-7593768 19:7528881-7528882
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.54dup (p.Asn19fs)duplication Likely pathogenic 370580 rs1057516602 19:7589864-7589865 19:7524978-7524979
42 MCOLN1 NM_020533.3(MCOLN1):c.681-2A>GSNV Likely pathogenic 371671 rs1057517453 19:7592748-7592748 19:7527862-7527862
43 MCOLN1 NM_020533.3(MCOLN1):c.855_856insA (p.His286fs)insertion Likely pathogenic 371144 rs1057517040 19:7593121-7593122 19:7528235-7528236
44 MCOLN1 NM_020533.3(MCOLN1):c.514C>T (p.Arg172Ter)SNV Likely pathogenic 208030 rs797044824 19:7591755-7591755 19:7526869-7526869
45 MCOLN1 NM_020533.3(MCOLN1):c.694A>C (p.Thr232Pro)SNV Likely pathogenic 208021 rs767122713 19:7592763-7592763 19:7527877-7527877
46 MCOLN1 NM_020533.3(MCOLN1):c.1149C>G (p.Tyr383Ter)SNV Likely pathogenic 813500 19:7594001-7594001 19:7529115-7529115
47 MCOLN1 NM_020533.3(MCOLN1):c.1308C>G (p.Tyr436Ter)SNV Likely pathogenic 813501 19:7594547-7594547 19:7529661-7529661
48 MCOLN1 NM_020533.3(MCOLN1):c.38_41dup (p.Leu15fs)duplication Likely pathogenic 550237 rs1555741548 19:7589850-7589851 19:7524964-7524965
49 MCOLN1 NM_020533.3(MCOLN1):c.973_984+10deldeletion Likely pathogenic 555937 rs779141908 19:7593570-7593591 19:7528684-7528705
50 MCOLN1 NM_020533.3(MCOLN1):c.571+2T>CSNV Likely pathogenic 554026 rs1555741822 19:7591814-7591814 19:7526928-7526928

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 TRPM3 TRPC3 TRPC1
2
Show member pathways
12.02 TPCN2 TPCN1 MCOLN3 MCOLN2 MCOLN1
3
Show member pathways
11.9 TRPV4 TRPV3 TRPM6 TRPM3 TRPC3 TRPC1
4 11.76 NPC2 NPC1 MCOLN1 LAMP1 HEXA
5 11.01 TRPV4 TRPV3 TRPM6 TRPM3 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 12)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.32 TRPV4 TRPV3 TRPM6 TRPM3 TRPC3 TRPC1
2 plasma membrane GO:0005886 10.29 TRPV4 TRPV3 TRPM6 TRPM3 TRPC3 TRPC1
3 integral component of membrane GO:0016021 10.28 TRPV4 TRPV3 TRPM6 TRPM3 TRPC3 TRPC1
4 integral component of plasma membrane GO:0005887 10.1 TRPV4 TRPV3 TRPC3 TRPC1 PKD2 NPC1
5 cytoplasmic vesicle GO:0031410 10.02 TRPV4 PKD2 PIKFYVE MCOLN3 MCOLN1 LAMP1
6 endosome GO:0005768 9.98 TPCN1 PIKFYVE NPC1 MCOLN3 MCOLN2 MCOLN1
7 cell GO:0005623 9.91 TRPV4 TRPC3 TRPC1 TPCN2 TPCN1 PKD2
8 endosome membrane GO:0010008 9.85 TPCN2 TPCN1 PIKFYVE MCOLN1 LAMP1
9 lysosomal membrane GO:0005765 9.65 TPCN2 TPCN1 TFEB NPC1 MTOR MCOLN3
10 late endosome membrane GO:0031902 9.63 PIKFYVE NPC1 MCOLN3 MCOLN2 MCOLN1 LAMP1
11 cation channel complex GO:0034703 9.5 TRPC3 TRPC1 PKD2
12 lysosome GO:0005764 9.36 TPCN2 TPCN1 NPC2 NPC1 MTOR MCOLN3

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 10.02 TRPV4 TRPV3 TRPM6 TRPM3 TRPC3 TRPC1
2 ion transport GO:0006811 9.97 TRPV4 TRPV3 TRPM6 TRPM3 TRPC3 TRPC1
3 ion transmembrane transport GO:0034220 9.96 TRPV4 TRPV3 TRPM6 TRPM3 TPCN2 TPCN1
4 cation transmembrane transport GO:0098655 9.8 TRPM6 TRPM3 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 9.76 TRPV4 TPCN2 PKD2
7 calcium ion transport GO:0006816 9.7 TRPV4 TRPV3 TRPM6 TRPM3 TRPC3 TRPC1
8 cation transport GO:0006812 9.69 TRPM6 TRPM3 MCOLN1
9 lysosome organization GO:0007040 9.65 TPCN2 TFEB MTOR
10 low-density lipoprotein particle clearance GO:0034383 9.61 NPC2 NPC1
11 cholesterol transport GO:0030301 9.61 NPC2 NPC1
12 protein tetramerization GO:0051262 9.61 TRPM6 TRPM3 PKD2
13 embryonic placenta development GO:0001892 9.6 TFEB PKD2
14 cholesterol efflux GO:0033344 9.59 NPC2 NPC1
15 negative regulation of macroautophagy GO:0016242 9.58 NPC1 MTOR
16 calcium ion import across plasma membrane GO:0098703 9.57 TRPV4 TRPV3
17 positive regulation of monocyte chemotactic protein-1 production GO:0071639 9.56 TRPV4 MCOLN2
18 manganese ion transport GO:0006828 9.55 TRPC3 TRPC1
19 cellular response to osmotic stress GO:0071470 9.54 TRPV4 PKD2
20 intracellular cholesterol transport GO:0032367 9.52 NPC2 NPC1
21 positive regulation of chemokine (C-C motif) ligand 5 production GO:0071651 9.49 TRPV4 MCOLN2
22 positive regulation of macrophage inflammatory protein 1 alpha production GO:0071642 9.46 TRPV4 MCOLN2
23 calcium ion transmembrane transport GO:0070588 9.4 TRPV4 TRPV3 TRPM6 TRPM3 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 TRPM3 TRPC3 TRPC1
2 cation channel activity GO:0005261 9.61 TRPV4 TRPV3 TRPM6 TRPM3 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 TRPM3 TRPC3 TRPC1

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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