ML4
MCID: MCL013
MIFTS: 66

Mucolipidosis Iv (ML4)

Categories: Bone diseases, Cardiovascular diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Mucolipidosis Iv

MalaCards integrated aliases for Mucolipidosis Iv:

Name: Mucolipidosis Iv 57 24 73 12 38
Mucolipidosis Type Iv 11 19 42 58 73 28 5 14 71 75
Sialolipidosis 57 42 73
Ml4 57 42 73
Ganglioside Sialidase Deficiency 19 42
Mucolipidosis Type 4 19 75
Mliv 42 73
Ganglioside Neuraminidase Deficiency 19
Type Iv Mucolipidosis 53
Berman Syndrome 19
Mucolipidosis 4 73
Gangliosidoses 71
Ml Iv 57
Ml 4 19

Characteristics:


Inheritance:

Mucolipidosis Iv: Autosomal recessive 57
Mucolipidosis Type Iv: Autosomal recessive 58

Prevelance:

Mucolipidosis Type Iv: 1-9/1000000 (Sweden) 1-9/100000 (Specific population) 58

Age Of Onset:

Mucolipidosis Type Iv: Infancy 58

Age Of Death:

Mucolipidosis Type Iv: adult 58

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
onset in first year of life
increased frequency in ashkenazi jewish population (1/100 are carriers)


Classifications:

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


Summaries for Mucolipidosis Iv

MedlinePlus Genetics: 42 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 ceroid lipofuscinosis, neuronal, 3, and has symptoms including photophobia An important gene associated with Mucolipidosis Iv is MCOLN1 (Mucolipin TRP Cation Channel 1), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Ion channel transport. The drugs Miglustat and Anti-HIV Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and kidney, and related phenotypes are intellectual disability and hyperreflexia

GARD: 19 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 and visual impairment. 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 in the MCOLN1 gene and is inherited in an autosomal recessive manner.

OMIM®: 57 Mucolipidosis IV is an autosomal recessive neurodegenerative lysosomal storage disorder characterized by psychomotor retardation and ophthalmologic abnormalities. The lysosomal hydrolases in ML IV are normal, in contrast to most other storage diseases. The disorder results from a defect in transport along the lysosomal pathway, affecting membrane sorting and/or late steps of endocytosis, which causes intracellular accumulation of lysosomal substrates. Over 80% of the patients in whom the diagnosis of ML IV has been made are Ashkenazi Jews, including severely affected and mildly affected patients (Chen et al., 1998). (252650) (Updated 24-Oct-2022)

UniProtKB/Swiss-Prot: 73 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.

Orphanet: 58 A rare lysosomal storage disease characterized clinically by severe global development delay due to neuronal dysmyelination, hypotonia which gradually progresses to spasticity during childhood, speech deficits, progressive visual impairment (due to corneal clouding, retinal degeneration and optic atrophy), achlorhydria, with increased gastrin secretion and iron deficiency anemia, and kidney disease and failure, all in the absence of dysmorphic features.

Disease Ontology: 11 A mucolipidosis that is characterized by delayed development and vision impairment that worsens over time.

Wikipedia: 75 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 110)
# Related Disease Score Top Affiliating Genes
1 glycoproteinosis 30.3 NPC2 NPC1 LAMP1
2 ceroid lipofuscinosis, neuronal, 3 30.2 TFEB NPC1 MCOLN1 LAMP1
3 scheie syndrome 30.1 NPC2 NPC1 LAMP1
4 gaucher disease, type i 30.1 TFEB NPC2 NPC1
5 tay-sachs disease 30.1 TFEB NPC2 NPC1 MCOLN1
6 niemann-pick disease, type c1 29.9 TPCN2 TFEB RAB7A NPC2 NPC1 MCOLN1
7 sphingolipidosis 29.9 TFEB NPC2 NPC1 MCOLN1 LAMP1 BLOC1S1
8 gaucher's disease 29.9 TFEB NPC2 NPC1 MCOLN1 LAMP1
9 mucolipidosis 29.8 VAC14 TPCN2 TPCN1 TFEB RAB7A PIKFYVE
10 niemann-pick disease 29.8 TPCN2 TFEB RAB7A NPC2 NPC1 MCOLN1
11 neuronal ceroid lipofuscinosis 29.4 TFEB RAB7A NPC2 NPC1 MCOLN1 LAMP1
12 mucolipidoses 11.2
13 lysosomal storage disease 10.5
14 niemann-pick disease type c, juvenile neurologic onset 10.3 NPC2 NPC1
15 niemann-pick disease type c, adult neurologic onset 10.3 NPC2 NPC1
16 niemann-pick disease type c, severe early infantile neurologic onset 10.3 NPC2 NPC1
17 niemann-pick disease type c, late infantile neurologic onset 10.3 NPC2 NPC1
18 niemann-pick disease type c, severe perinatal form 10.3 NPC2 NPC1
19 cerebral palsy 10.2
20 t cell and nk cell immunodeficiency 10.2 TRPC3 TRPC1
21 narcolepsy 1 10.2 NPC2 NPC1
22 lysosomal disease 10.2
23 familial episodic pain syndrome 10.2 TRPV4 MCOLN1
24 lysosomal and lipase deficiency 10.2 TFEB NPC2 NPC1
25 danon disease 10.2 TFEB LAMP1 BLOC1S1
26 niemann-pick disease, type a 10.2 NPC2 NPC1 MCOLN1
27 gm2 gangliosidosis 10.2 NPC2 NPC1 MCOLN1
28 progressive familial heart block 10.2 TRPM6 TRPC3
29 brachyolmia 10.2 TRPV4 TRPC1 MCOLN1
30 yunis-varon syndrome 10.2 VAC14 TPCN2 PIKFYVE MCOLN1
31 neuraminidase deficiency 10.2
32 3-methylglutaconic aciduria, type iii 10.2
33 peripheral retinal degeneration 10.2
34 retinal degeneration 10.2
35 hypotonia 10.2
36 pick disease of brain 10.1
37 mucopolysaccharidosis, type ii 10.1
38 ptosis 10.1
39 retinal vascular disease 10.1
40 esotropia 10.1
41 encephalopathy 10.1
42 mucopolysaccharidosis-plus syndrome 10.1 TFEB NPC1 LAMP1 BLOC1S1
43 parastremmatic dwarfism 10.1 TRPV4 PKD2 MCOLN1
44 inherited metabolic disorder 10.1
45 charcot-marie-tooth disease, type 4b2 10.1 VAC14 RAB7A PIKFYVE
46 lipid storage disease 10.1 NPC2 NPC1 MCOLN1 BLOC1S1
47 mucopolysaccharidosis, type iiib 10.1 TFEB NPC2 NPC1 LAMP1
48 immunodeficiency 10 10.1 TRPC3 TRPC1
49 charcot-marie-tooth disease, type 4j 10.1 VAC14 RAB7A PIKFYVE MCOLN1
50 spondylometaphyseal dysplasia, kozlowski type 10.1 TRPV6 TRPV4 MCOLN1

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Neurologic Central Nervous System:
hyperreflexia
dystonia
dysplastic corpus callosum
hypotonia
mental retardation
more
Head And Neck Eyes:
optic atrophy
photophobia
strabismus
corneal clouding
corneal opacities
more
Laboratory Abnormalities:
skin fibroblasts contain cytoplasmic membrane-bound granular inclusions
cytoplasmic lamellar concentric inclusions
inclusions contain phospholipids, phosphatidylcholine, sphingolipids, gangliosides, mucopolysaccharides
normal lysosomal hydrolases
increased serum gastrin
more
Head And Neck Head:
microcephaly

Abdomen Gastrointestinal:
achlorhydria

Clinical features from OMIM®:

252650 (Updated 24-Oct-2022)

UMLS symptoms related to Mucolipidosis Iv:


photophobia

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.09 BLOC1S1 CLCN7 LAMP1 MCOLN1 MCOLN3 NPC1
2 no effect GR00402-S-2 10.09 BLOC1S1 MCOLN3 NPC1 NPC2 PIKFYVE PKD2

MGI Mouse Phenotypes related to Mucolipidosis Iv:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.28 BLOC1S1 CLCN7 LAMP1 MCOLN1 MCOLN2 NPC1
2 nervous system MP:0003631 10.21 CLCN7 LAMP1 MCOLN1 MCOLN3 NPC1 NPC2
3 growth/size/body region MP:0005378 10.21 CLCN7 LAMP1 MCOLN1 MCOLN3 NPC1 NPC2
4 normal MP:0002873 10.13 CLCN7 LAMP1 NPC1 PIKFYVE PKD2 RAB7A
5 cellular MP:0005384 10.06 BLOC1S1 CLCN7 LAMP1 MCOLN2 NPC1 NPC2
6 behavior/neurological MP:0005386 10.03 CLCN7 MCOLN1 MCOLN3 NPC1 NPC2 PIKFYVE
7 no phenotypic analysis MP:0003012 10 MCOLN2 MCOLN3 NPC1 RAB7A TPCN1 TPCN2
8 pigmentation MP:0001186 9.97 BLOC1S1 CLCN7 MCOLN3 PIKFYVE TFEB VAC14
9 immune system MP:0005387 9.97 CLCN7 LAMP1 MCOLN1 MCOLN2 NPC1 NPC2
10 hematopoietic system MP:0005397 9.83 CLCN7 LAMP1 MCOLN1 MCOLN2 NPC1 NPC2
11 mortality/aging MP:0010768 9.47 BLOC1S1 CLCN7 LAMP1 MCOLN1 MCOLN3 NPC1

Drugs & Therapeutics for Mucolipidosis Iv

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

(show top 50) (show all 67)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miglustat Approved Phase 4 72599-27-0 51634
2 Anti-HIV Agents Phase 4
3 Cardiac Glycosides Phase 4
4 Antiviral Agents Phase 4
5 Glycoside Hydrolase Inhibitors Phase 4
6 Anti-Retroviral Agents Phase 4
7 Hypoglycemic Agents Phase 4
8
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
9
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
10 Antineoplastic Agents, Alkylating Phase 2, Phase 3
11 Alkylating Agents Phase 2, Phase 3
12 Antilymphocyte Serum Phase 2, Phase 3
13
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
14
Melphalan Approved Phase 2 148-82-3 4053 460612
15
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
16
Tannic acid Approved Phase 2 1401-55-4 16129878 16129778
17
Hydroxyurea Approved Phase 2 127-07-1 3657
18
Alemtuzumab Approved, Investigational Phase 2 216503-57-0
19
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
20
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
21
Prednisolone phosphate Approved, Vet_approved Phase 1, Phase 2 302-25-0
22
Prednisolone acetate Approved, Vet_approved Phase 1, Phase 2 52-21-1
23
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 4894 5755
24
Methylprednisolone hemisuccinate Approved Phase 1, Phase 2 2921-57-5 1875
25
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 4159 6741
26
Prednisone Approved, Vet_approved Phase 1, Phase 2 53-03-2 5865
27
Rituximab Approved Phase 1, Phase 2 174722-31-7
28
Chlorhexidine Approved, Vet_approved Phase 1, Phase 2 55-56-1 2713 9552079
29
Lidocaine Approved, Vet_approved Phase 1, Phase 2 137-58-6 3676
30
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030
31
D-Lysine Approved, Experimental, Nutraceutical Phase 1, Phase 2 923-27-3, 56-87-1 57449 5962
32
Prednisolone hemisuccinate Experimental Phase 1, Phase 2 2920-86-7 4897
33 Micronutrients Phase 1, Phase 2
34 Antidotes Phase 1, Phase 2
35 Vitamins Phase 1, Phase 2
36 Trace Elements Phase 1, Phase 2
37 Dermatologic Agents Phase 2
38 Cyclosporins Phase 2
39 Calcineurin Inhibitors Phase 2
40 Antimetabolites Phase 2
41 Anti-Infective Agents Phase 1, Phase 2
42 Protective Agents Phase 1, Phase 2
43 Antifungal Agents Phase 1, Phase 2
44 Antirheumatic Agents Phase 1, Phase 2
45 Immunosuppressive Agents Phase 1, Phase 2
46 Antineoplastic Agents, Immunological Phase 1, Phase 2
47 Immunologic Factors Phase 1, Phase 2
48
Methylprednisolone Acetate Phase 1, Phase 2 584547
49 Gastrointestinal Agents Phase 1, Phase 2
50 glucocorticoids Phase 1, Phase 2

Interventional clinical trials:

(show all 29)
# Name Status NCT ID Phase Drugs
1 Synergistic Enteral Regimen for Treatment of the Gangliosidoses (Syner-G) Terminated NCT02030015 Phase 4 miglustat
2 Pharmacokinetics, Safety and Tolerability of Zavesca (Miglustat) in Patients With Infantile Onset GM2 Gangliosidosis: Single and Steady State Oral Doses Completed NCT00672022 Phase 3 Zavesca (Miglustat)
3 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Bone Marrow Transplantation Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
4 Survey of Miglustat Therapeutic Effects on Neurological and Systemic Symptoms of Infantile Type of Sandhoff and Taysachs Diseases Recruiting NCT03822013 Phase 3 Miglustat
5 Ganglioside-Monosialic Acid Prophylaxis for Cognitive Dysfunction Related to Whole Brain Radiotherapy in Breast Cancer Patients With Brain Metastases ,a Multi-center,Randomized,Single Blind,Phase III Clinical Trail Recruiting NCT04395339 Phase 3 Monosialotetrahexosyl ganglioside (GM1);Control
6 Proposed Investigator-Initiated Clinical Trial of Pyrimethamine as a Treatment for Late-Onset GM2-gangliosidosis (Tay-Sachs and Sandhoff Disease) Completed NCT01102686 Phase 1, Phase 2 Pyrimethamine;Leucovorin
7 Pharmacokinetics and Tolerability of Zavesca® (Miglustat) In Patients With Juvenile GM2 Gangliosidosis: Single and Multiple Oral Doses Completed NCT00418847 Phase 2 miglustat
8 Treatment of High Risk, Inherited Lysosomal And Peroxisomal Disorders by Reduced Intensity Hematopoietic Stem Cell Transplantation Completed NCT00383448 Phase 2 Clofarabine;Melphalan;Alemtuzumab;mycophenylate mofetil;Hydroxyurea
9 Phase 1/2 Open-Label, Multicenter Study to Assess the Safety, Tolerability and Efficacy of a Single Dose of PBGM01 Delivered Into the Cisterna Magna of Subjects With Type 1 (Early Onset) and Type 2a (Late Onset) Infantile GM1 Gangliosidosis Recruiting NCT04713475 Phase 1, Phase 2
10 A Phase 1-2 Study of Intravenous Gene Transfer With an AAV9 Vector Expressing Human Beta-galactosidase in Type I and Type II GM1 Gangliosidosis Recruiting NCT03952637 Phase 1, Phase 2 Rituximab;Sirolimus;Methylprednisolone;Prednisone
11 Phase 1/2, Open-Label Clinical Study to Evaluate the Safety and Efficacy of Intrathecal TSHA-101 Gene Therapy for Treatment of Infantile Onset GM2 Gangliosidosis Active, not recruiting NCT04798235 Phase 1, Phase 2
12 Effects of N-Acetyl-L-Leucine on GM2 Gangliosdisosis (Tay-Sachs and Sandhoff Disease): A Multinational, Multicenter, Open-label, Rater-blinded Phase II Study Active, not recruiting NCT03759665 Phase 2 IB1001
13 An Open-Label Adaptive-Design Study of Intracisternal Adenoassociated Viral Vector Serotype rh.10 Carrying the Human β-Galactosidase cDNA for Treatment of GM1 Gangliosidosis Active, not recruiting NCT04273269 Phase 1, Phase 2
14 A Dose-Escalated, Double-Blind, Placebo-Controlled, Randomized Phase I Clinical Trial of Pyrimethamine in Patients Affected With Chronic GM2 Gangliosidosis (Tay-Sachs or Sandhoff Variants) Withdrawn NCT00679744 Phase 1 Pyrimethamine
15 The Natural History of Mucolipidosis Type IV Unknown status NCT01067742
16 A Natural History of Late Onset Tay-Sachs Disease: MGH Site Unknown status NCT02851862
17 Natural History of Morquio B and Late-Onset GM1 Gangliosidosis Unknown status NCT04320329
18 The Natural History and Pathogenesis of Mucolipidosis Type IV Completed NCT00015782
19 Natural History Study for Pediatric Patients With Early Onset of Either GM1 Gangliosidosis, GM2 Gangliosidoses, or Gaucher Disease Type 2 Completed NCT04470713
20 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
21 Eight At One Stroke: Attention Gangliosidoses A Registry Study for Patients With Gangliosidoses Recruiting NCT04624789
22 Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders Recruiting NCT00029965
23 Prospective Longitudinal Study of Neurological Disease Trajectory in Children Living With Late-Infantile or Juvenile Onset of GM1 or GM2 Gangliosidosis Recruiting NCT05109793
24 A Natural History Study of the Gangliosidoses Recruiting NCT00668187
25 The Myelin Disorders Biorepository Project and Global Leukodystrophy Initiative Clinical Trials Network Recruiting NCT03047369
26 Natural History Study of Infantile and Juvenile GM1 Gangliosidosis (GM1) Patients Recruiting NCT04041102
27 Natural History Study Using Interview and Video Capture of Infantile and Juvenile GM1 Gangliosidosis (GM1) Active, not recruiting NCT04310163
28 Biomarker for Gangliosidosis: BioGM1 / BioGM2 AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT02298647
29 ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program Enrolling by invitation NCT05368038

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 28 MCOLN1

Anatomical Context for Mucolipidosis Iv

Organs/tissues related to Mucolipidosis Iv:

MalaCards : Eye, Retina, Kidney, Brain, Bone Marrow, Bone, Skin

Publications for Mucolipidosis Iv

Articles related to Mucolipidosis Iv:

(show top 50) (show all 1913)
# Title Authors PMID Year
1
Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel. 53 62 24 57 5
11030752 2000
2
Identification of the gene causing mucolipidosis type IV. 53 62 24 57 5
10973263 2000
3
Mucolipidosis IV: report of a case with ocular restricted phenotype caused by leaky splice mutation. 62 24 57 5
17239335 2007
4
Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of mucolipidosis IV. 62 24 57 5
15523648 2004
5
Mapping of the mucolipidosis type IV gene to chromosome 19p and definition of founder haplotypes. 53 62 57 5
10441585 1999
6
Isolated ocular disease is associated with decreased mucolipin-1 channel conductance. 53 62 24 5
18326692 2008
7
Overexpression of wild-type and mutant mucolipin proteins in mammalian cells: effects on the late endocytic compartment organization. 53 62 24 5
15178326 2004
8
Molecular pathophysiology of mucolipidosis type IV: pH dysregulation of the mucolipin-1 cation channel. 53 62 24 5
14749347 2004
9
The neurogenetics of mucolipidosis type IV. 53 62 24 5
12182165 2002
10
Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population. 53 62 24 5
11845410 2002
11
Mucolipidosis type IV. 53 62 24 5
11461186 2001
12
Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population. 53 62 24 5
11317355 2001
13
Cloning of the gene encoding a novel integral membrane protein, mucolipidin-and identification of the two major founder mutations causing mucolipidosis type IV. 53 62 24 5
11013137 2000
14
Mucolipidosis IV consists of one complementation group. 53 62 24 57
10411915 1999
15
Electronegative electroretinogram in mucolipidosis IV. 62 24 57
11786056 2002
16
Rapid detection of the two common mutations in Ashkenazi Jewish patients with mucolipidosis type IV. 62 24 5
11551108 2001
17
Mucolipidosis type IV: characteristic MRI findings. 62 24 57
9710036 1998
18
Constitutive achlorhydria in mucolipidosis type IV. 62 24 57
9448310 1998
19
Mucolipidosis type IV: clinical spectrum and natural history. 62 24 57
2438637 1987
20
Autophagic dysfunction in mucolipidosis type IV patients. 53 62 57
18550655 2008
21
TRP-ML1 regulates lysosomal pH and acidic lysosomal lipid hydrolytic activity. 53 62 5
16361256 2006
22
TRP-ML1 is a lysosomal monovalent cation channel that undergoes proteolytic cleavage. 53 62 5
16257972 2005
23
The frequency of mucolipidosis type IV in the Ashkenazi Jewish population and the identification of 3 novel MCOLN1 mutations. 53 62 5
16287144 2005
24
Functional links between mucolipin-1 and Ca2+-dependent membrane trafficking in mucolipidosis IV. 53 62 5
15336987 2004
25
Mucolipidosis type IV: the origin of the disease in the Ashkenazi Jewish population. 53 62 57
10352940 1999
26
Mucolipidosis type IV: abnormal transport of lipids to lysosomes. 53 62 57
9323557 1997
27
Mucolipidosis type IV: clinical manifestations and natural history. 53 62 57
1789285 1991
28
Persistently elevated CK and lysosomal storage myopathy associated with mucolipin 1 defects. 62 5
33454187 2021
29
Exome sequencing study of partial agenesis of the corpus callosum in men with developmental delay, epilepsy, and microcephaly. 62 5
31578829 2020
30
Mucolipidosis type IV in a child. 62 5
30120981 2018
31
Cryo-EM structures of the mammalian endo-lysosomal TRPML1 channel elucidate the combined regulation mechanism. 62 5
28936784 2017
32
Human TRPML1 channel structures in open and closed conformations. 62 5
29019983 2017
33
Structural basis of dual Ca2+/pH regulation of the endolysosomal TRPML1 channel. 62 5
28112729 2017
34
The role of TRPMLs in endolysosomal trafficking and function. 62 5
25465891 2015
35
A small molecule restores function to TRPML1 mutant isoforms responsible for mucolipidosis type IV. 62 5
25119295 2014
36
Role of TRPML and two-pore channels in endolysosomal cation homeostasis. 62 5
22518024 2012
37
Role of protein kinase d in Golgi exit and lysosomal targeting of the transmembrane protein, Mcoln1. 62 5
22268962 2012
38
Development of TaqMan allelic discrimination based genotyping of large DNA deletions. 62 5
22281206 2012
39
Mucolipidosis type IV: an update. 62 5
21763169 2011
40
Mucolipidosis type IV: a subtle pediatric neurodegenerative disorder. 62 5
20159435 2010
41
Functional multimerization of mucolipin channel proteins. 62 5
19885840 2010
42
Development of genomic DNA reference materials for genetic testing of disorders common in people of ashkenazi jewish descent. 62 5
19815695 2009
43
The type IV mucolipidosis-associated protein TRPML1 is an endolysosomal iron release channel. 62 5
18794901 2008
44
Comprehensive arrayed primer extension array for the detection of 59 sequence variants in 15 conditions prevalent among the (Ashkenazi) Jewish population. 62 5
17384215 2007
45
Rapid one-step carrier detection assay of mucolipidosis IV mutations in the Ashkenazi Jewish population. 62 5
16645217 2006
46
The molecular basis of mucolipidosis type IV. 62 5
12125810 2002
47
Mucolipidosis IV: novel mutation and diverse ultrastructural spectrum in the skin. 53 62 24
12368990 2002
48
Regulation of endocytosis by CUP-5, the Caenorhabditis elegans mucolipin-1 homolog. 62 57
11326278 2001
49
Abnormal transport along the lysosomal pathway in mucolipidosis, type IV disease. 62 57
9600972 1998
50
Cultured skin fibroblasts derived from patients with mucolipidosis 4 are auto-fluorescent. 62 57
7651750 1995

Variations for Mucolipidosis Iv

ClinVar genetic disease variations for Mucolipidosis Iv:

5 (show top 50) (show all 460)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MCOLN1 NM_020533.3(MCOLN1):c.1207C>T (p.Arg403Cys) SNV Pathogenic
5137 rs121908374 GRCh37: 19:7594059-7594059
GRCh38: 19:7529173-7529173
2 MCOLN1 AF287270:g.511_6943del DEL Pathogenic
208020 GRCh37:
GRCh38:
3 MCOLN1 NM_020533.3(MCOLN1):c.236_237ins[NC_012920.1:m.12435_12527] (p.Gln79delinsHisHisTyrValLysSerIleValAlaSerThrPheIleIleSerLeuPheProThrThrIlePheMetCysLeuAspGlnGluValIleIleSer) INSERT Pathogenic
208037 GRCh37: 19:7590051-7590052
GRCh38: 19:7525165-7525166
4 MCOLN1 NC_000019.10:g.(?_7522731)_(7528277_?)del DEL Pathogenic
528767 GRCh37: 19:7587617-7593163
GRCh38: 19:7522731-7528277
5 MCOLN1 NM_020533.3(MCOLN1):c.874_877delinsTACT (p.His292_Gly293delinsTyrTer) INDEL Pathogenic
970981 rs2022601213 GRCh37: 19:7593140-7593143
GRCh38: 19:7528254-7528257
6 MCOLN1 NC_000019.9:g.(?_7586622)_7593056del DEL Pathogenic
1071277 GRCh37:
GRCh38:
7 MCOLN1 NC_000019.9:g.(?_7586623)_7593055del DEL Pathogenic
1071278 GRCh37:
GRCh38:
8 MCOLN1 NC_000019.9:g.(?_7586622)_7593054del DEL Pathogenic
1073086 GRCh37:
GRCh38:
9 MCOLN1 NM_020533.3(MCOLN1):c.278del (p.Phe93fs) DEL Pathogenic
1323272 GRCh37: 19:7591364-7591364
GRCh38: 19:7526478-7526478
10 MCOLN1 NM_020533.3(MCOLN1):c.615dup (p.Ser206fs) DUP Pathogenic
280304 rs886041533 GRCh37: 19:7592443-7592444
GRCh38: 19:7527557-7527558
11 MCOLN1 NM_020533.3(MCOLN1):c.419del (p.Pro140fs) DEL Pathogenic
1377765 GRCh37: 19:7591659-7591659
GRCh38: 19:7526773-7526773
12 MCOLN1 NM_020533.3(MCOLN1):c.948dup (p.Ala317fs) DUP Pathogenic
1386426 GRCh37: 19:7593552-7593553
GRCh38: 19:7528666-7528667
13 MCOLN1 NM_020533.3(MCOLN1):c.165del (p.Lys55fs) DEL Pathogenic
1414260 GRCh37: 19:7589980-7589980
GRCh38: 19:7525094-7525094
14 MCOLN1 NM_020533.3(MCOLN1):c.1627C>T (p.Gln543Ter) SNV Pathogenic
1454517 GRCh37: 19:7598460-7598460
GRCh38: 19:7533574-7533574
15 MCOLN1 NM_020533.3(MCOLN1):c.66T>G (p.Tyr22Ter) SNV Pathogenic
1402137 GRCh37: 19:7589881-7589881
GRCh38: 19:7524995-7524995
16 MCOLN1 NC_000019.9:g.(?_7587627)_(7587677_?)del DEL Pathogenic
1456674 GRCh37: 19:7587627-7587677
GRCh38:
17 MCOLN1 NM_020533.3(MCOLN1):c.844C>T (p.Gln282Ter) SNV Pathogenic
1455180 GRCh37: 19:7593110-7593110
GRCh38: 19:7528224-7528224
18 MCOLN1 NM_020533.3(MCOLN1):c.507C>G (p.Tyr169Ter) SNV Pathogenic
1460387 GRCh37: 19:7591748-7591748
GRCh38: 19:7526862-7526862
19 MCOLN1 NM_020533.3(MCOLN1):c.504del (p.Tyr169fs) DEL Pathogenic
1453483 GRCh37: 19:7591744-7591744
GRCh38: 19:7526858-7526858
20 MCOLN1 NM_020533.3(MCOLN1):c.95dup (p.Pro33fs) DUP Pathogenic
1452230 GRCh37: 19:7589906-7589907
GRCh38: 19:7525020-7525021
21 MCOLN1 NM_020533.3(MCOLN1):c.230del (p.Thr77fs) DEL Pathogenic
1451357 GRCh37: 19:7590045-7590045
GRCh38: 19:7525159-7525159
22 MCOLN1 NM_020533.3(MCOLN1):c.654C>A (p.Tyr218Ter) SNV Pathogenic
1452538 GRCh37: 19:7592488-7592488
GRCh38: 19:7527602-7527602
23 MCOLN1 NM_020533.3(MCOLN1):c.192C>A (p.Cys64Ter) SNV Pathogenic
836263 rs2022550603 GRCh37: 19:7590007-7590007
GRCh38: 19:7525121-7525121
24 MCOLN1 NM_020533.3(MCOLN1):c.880_881del (p.Asp294fs) MICROSAT Pathogenic
860465 rs2022607233 GRCh37: 19:7593483-7593484
GRCh38: 19:7528597-7528598
25 MCOLN1 NM_020533.3(MCOLN1):c.166_182del (p.Phe56fs) DEL Pathogenic
951639 rs2022549661 GRCh37: 19:7589980-7589996
GRCh38: 19:7525094-7525110
26 MCOLN1 NM_020533.3(MCOLN1):c.724del (p.Leu242fs) DEL Pathogenic
1072781 GRCh37: 19:7592792-7592792
GRCh38: 19:7527906-7527906
27 MCOLN1 NM_020533.3(MCOLN1):c.445dup (p.Tyr149fs) DUP Pathogenic
661439 rs1568398702 GRCh37: 19:7591685-7591686
GRCh38: 19:7526799-7526800
28 MCOLN1 NM_020533.3(MCOLN1):c.594del (p.Glu199fs) DEL Pathogenic
1068939 GRCh37: 19:7592423-7592423
GRCh38: 19:7527537-7527537
29 MCOLN1 NM_020533.3(MCOLN1):c.159C>A (p.Cys53Ter) SNV Pathogenic
1072052 GRCh37: 19:7589974-7589974
GRCh38: 19:7525088-7525088
30 MCOLN1 NM_020533.3(MCOLN1):c.169C>T (p.Arg57Ter) SNV Pathogenic
1072635 GRCh37: 19:7589984-7589984
GRCh38: 19:7525098-7525098
31 MCOLN1 NM_020533.3(MCOLN1):c.499C>T (p.Gln167Ter) SNV Pathogenic
1074644 GRCh37: 19:7591740-7591740
GRCh38: 19:7526854-7526854
32 MCOLN1 NM_020533.3(MCOLN1):c.304C>T (p.Arg102Ter) SNV Pathogenic
5136 rs121908373 GRCh37: 19:7591391-7591391
GRCh38: 19:7526505-7526505
33 MCOLN1 NM_020533.3(MCOLN1):c.1210dup (p.Tyr404fs) DUP Pathogenic
208028 rs797044822 GRCh37: 19:7594061-7594062
GRCh38: 19:7529175-7529176
34 MCOLN1 NM_020533.3:c.236_237ins[NC_012920.1:g.12435_12528] INSERT Pathogenic
5138 GRCh37:
GRCh38:
35 MCOLN1 NM_020533.3(MCOLN1):c.406-2A>G SNV Pathogenic
5131 rs104886461 GRCh37: 19:7591645-7591645
GRCh38: 19:7526759-7526759
36 MCOLN1 NM_020533.2(MCOLN1):c.-1015_789del DEL Pathogenic
5132 GRCh37: 19:7586622-7593055
GRCh38: 19:7521736-7528169
37 MCOLN1 NM_020533.3(MCOLN1):c.1704A>T (p.Gly568=) SNV Pathogenic
208024 rs751298168 GRCh37: 19:7598537-7598537
GRCh38: 19:7533651-7533651
38 MCOLN1 NM_020533.3(MCOLN1):c.1615del (p.Ala539fs) DEL Pathogenic
208025 rs1555742780 GRCh37: 19:7598447-7598447
GRCh38: 19:7533561-7533561
39 MCOLN1 NM_020533.3(MCOLN1):c.1453_1463dup (p.Ser488fs) DUP Pathogenic
208029 rs797044823 GRCh37: 19:7595256-7595257
GRCh38: 19:7530370-7530371
40 MCOLN1 NM_020533.3(MCOLN1):c.694A>C (p.Thr232Pro) SNV Pathogenic/Likely Pathogenic
208021 rs767122713 GRCh37: 19:7592763-7592763
GRCh38: 19:7527877-7527877
41 MCOLN1 NM_020533.3(MCOLN1):c.514C>T (p.Arg172Ter) SNV Pathogenic/Likely Pathogenic
208030 rs797044824 GRCh37: 19:7591755-7591755
GRCh38: 19:7526869-7526869
42 MCOLN1 NM_020533.3(MCOLN1):c.571+2T>C SNV Pathogenic/Likely Pathogenic
554026 rs1555741822 GRCh37: 19:7591814-7591814
GRCh38: 19:7526928-7526928
43 MCOLN1 NM_020533.3(MCOLN1):c.405+1G>A SNV Pathogenic/Likely Pathogenic
419813 rs148748724 GRCh37: 19:7591493-7591493
GRCh38: 19:7526607-7526607
44 MCOLN1 NM_020533.3(MCOLN1):c.964C>T (p.Arg322Ter) SNV Pathogenic/Likely Pathogenic
5133 rs121908371 GRCh37: 19:7593569-7593569
GRCh38: 19:7528683-7528683
45 MCOLN1 NM_020533.3(MCOLN1):c.920del (p.Leu307fs) DEL Pathogenic/Likely Pathogenic
208039 rs755042147 GRCh37: 19:7593525-7593525
GRCh38: 19:7528639-7528639
46 MCOLN1 NM_020533.3(MCOLN1):c.984+1G>A SNV Pathogenic/Likely Pathogenic
371019 rs767950930 GRCh37: 19:7593590-7593590
GRCh38: 19:7528704-7528704
47 MCOLN1 NM_020533.3(MCOLN1):c.680+1G>A SNV Pathogenic/Likely Pathogenic
813499 rs1599254152 GRCh37: 19:7592515-7592515
GRCh38: 19:7527629-7527629
48 MCOLN1 NM_020533.3(MCOLN1):c.1149C>G (p.Tyr383Ter) SNV Likely Pathogenic
Likely Benign
813500 rs376777270 GRCh37: 19:7594001-7594001
GRCh38: 19:7529115-7529115
49 MCOLN1 NM_020533.3(MCOLN1):c.1308C>G (p.Tyr436Ter) SNV Likely Pathogenic
813501 rs1599255682 GRCh37: 19:7594547-7594547
GRCh38: 19:7529661-7529661
50 MCOLN1 NM_020533.3(MCOLN1):c.1336G>A (p.Val446Met) SNV Likely Pathogenic
Likely Pathogenic
426811 rs754097561 GRCh37: 19:7594575-7594575
GRCh38: 19:7529689-7529689

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

73
# Symbol AA change Variation ID SNP ID
1 MCOLN1 p.Leu106Pro VAR_019369 rs797044825
2 MCOLN1 p.Thr232Pro VAR_019370 rs767122713
3 MCOLN1 p.Asp362Tyr VAR_019371 rs121908372
4 MCOLN1 p.Val446Leu VAR_019373 rs754097561
5 MCOLN1 p.Leu447Pro VAR_019374 rs797044827
6 MCOLN1 p.Phe465Leu VAR_019375 rs797044828
7 MCOLN1 p.Arg403Cys VAR_038380 rs121908374

Expression for Mucolipidosis Iv

Search GEO for disease gene expression data for Mucolipidosis Iv.

Pathways for Mucolipidosis Iv

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.1 CLCN7 MCOLN1 MCOLN2 MCOLN3 NPC1 NPC2
2
Show member pathways
11.83 TRPV6 TRPV4 TRPM6 TRPC3 TRPC1 TPCN2
3 11.73 TPCN2 RAB7A NPC2 NPC1
4 11 TRPV6 TRPV4 TRPM6 TRPC3 TRPC1 MCOLN3
5
Show member pathways
10.58 RAB7A NPC2 NPC1
6 10.48 NPC2 NPC1
7 10.41 RAB7A CLCN7

GO Terms for Mucolipidosis Iv

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 11.02 CLCN7 LAMP1 MCOLN1 MCOLN2 MCOLN3 NPC1
2 membrane GO:0016021 11.02 CLCN7 LAMP1 MCOLN1 MCOLN2 MCOLN3 NPC1
3 plasma membrane GO:0005887 10.5 TRPV6 TRPV4 TRPM6 TRPC3 TRPC1 PKD2
4 plasma membrane GO:0005886 10.5 TRPV6 TRPV4 TRPM6 TRPC3 TRPC1 PKD2
5 lysosomal membrane GO:0005765 10.18 BLOC1S1 CLCN7 LAMP1 MCOLN1 MCOLN2 MCOLN3
6 endosome membrane GO:0010008 10.17 LAMP1 MCOLN1 PIKFYVE RAB7A TPCN1 TPCN2
7 cytoplasmic vesicle GO:0031410 10.16 CLCN7 MCOLN1 MCOLN3 PIKFYVE PKD2 RAB7A
8 early endosome membrane GO:0031901 10.1 VAC14 TPCN1 PIKFYVE MCOLN3
9 endosome GO:0005768 10 VAC14 TPCN2 TPCN1 RAB7A PIKFYVE NPC1
10 phagocytic vesicle membrane GO:0030670 9.99 RAB7A PIKFYVE MCOLN1
11 autophagosome membrane GO:0000421 9.95 RAB7A MCOLN3 LAMP1
12 late endosome membrane GO:0031902 9.91 LAMP1 MCOLN1 MCOLN2 MCOLN3 NPC1 PIKFYVE
13 cation channel complex GO:0034703 9.88 PKD2 TRPC1 TRPC3
14 lysosome GO:0005764 9.6 TPCN2 TPCN1 TFEB RAB7A NPC2 NPC1

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 release of sequestered calcium ion into cytosol GO:0051209 10.03 TPCN2 TPCN1 PKD2 MCOLN3 MCOLN2 MCOLN1
2 ion transmembrane transport GO:0034220 10.02 MCOLN1 MCOLN2 MCOLN3 TPCN1 TPCN2 TRPM6
3 response to calcium ion GO:0051592 9.99 TRPV6 TRPC3 TRPC1
4 transmembrane transport GO:0055085 9.97 TRPV6 TRPV4 TRPM6 TRPC3 TRPC1 TPCN2
5 ion transport GO:0006811 9.93 TRPV6 TRPV4 TRPM6 TRPC3 TRPC1 TPCN2
6 phagosome maturation GO:0090382 9.88 RAB7A PIKFYVE MCOLN1
7 phagosome-lysosome fusion GO:0090385 9.87 RAB7A PIKFYVE
8 cellular response to osmotic stress GO:0071470 9.86 TRPV4 PKD2
9 intracellular cholesterol transport GO:0032367 9.85 NPC2 NPC1
10 receptor-mediated endocytosis of virus by host cell GO:0019065 9.84 TPCN2 PIKFYVE
11 cation transmembrane transport GO:0098655 9.83 TRPM6 MCOLN3 MCOLN2 MCOLN1
12 calcium ion transport GO:0006816 9.83 MCOLN1 MCOLN2 PKD2 TPCN1 TPCN2 TRPC1
13 positive regulation of chemokine (C-C motif) ligand 5 production GO:0071651 9.8 TRPV4 MCOLN2
14 endocytosis involved in viral entry into host cell GO:0075509 9.78 TPCN1 TPCN2
15 positive regulation of macrophage inflammatory protein 1 alpha production GO:0071642 9.76 TRPV4 MCOLN2
16 calcium ion transmembrane transport GO:0070588 9.62 TRPV6 TRPV4 TRPM6 TRPC3 TRPC1 TPCN2
17 manganese ion transport GO:0006828 9.52 TRPC3 TRPC1

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

# Name GO ID Score Top Affiliating Genes
1 cation channel activity GO:0005261 9.93 MCOLN1 MCOLN2 MCOLN3 PKD2 TRPC1 TRPM6
2 ion channel activity GO:0005216 9.91 TRPV6 TRPV4 TRPM6 TRPC3 TRPC1 TPCN2
3 intracellular phosphatidylinositol-3,5-bisphosphate-sensitive cation channel activity GO:0097682 9.8 TPCN2 TPCN1 MCOLN1
4 inositol 1,4,5 trisphosphate binding GO:0070679 9.78 TRPC3 TRPC1
5 voltage-gated sodium channel activity GO:0005248 9.77 TPCN2 TPCN1 PKD2
6 ligand-gated sodium channel activity GO:0015280 9.76 TPCN2 TPCN1
7 store-operated calcium channel activity GO:0015279 9.73 TRPC3 TRPC1
8 NAADP-sensitive calcium-release channel activity GO:0072345 9.65 TPCN2 TPCN1 MCOLN3 MCOLN2 MCOLN1
9 calcium channel activity GO:0005262 9.64 TRPV6 TRPV4 TRPM6 TRPC3 TRPC1 TPCN2
10 voltage-gated channel activity GO:0022832 9.4 TPCN2 TPCN1

Sources for Mucolipidosis Iv

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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