ML4
MCID: MCL013
MIFTS: 62

Mucolipidosis Iv (ML4) malady

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

Aliases & Classifications for Mucolipidosis Iv

Aliases & Descriptions for Mucolipidosis Iv:

Name: Mucolipidosis Iv 54 23 24 66 13
Mucolipidosis Type Iv 12 50 25 56 66 69
Gangliosidosis 12 50 52 14
Ganglioside Sialidase Deficiency 50 25 29
Mliv 24 25 66
Sialolipidosis 25 66
Gangliosidoses 42 69
Ml4 25 66
Ganglioside Neuraminidase Deficiency 50
Type Iv Mucolipidosis 52
Mucolipidosis Type 4 50
Berman Syndrome 50
Mucolipidosis 4 66
Ml Iv 24
Ml 4 50

Characteristics:

Orphanet epidemiological data:

56
mucolipidosis type iv
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Sweden),1-9/100000; Age of onset: Infancy; Age of death: adult;

HPO:

32
mucolipidosis iv:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 54 252650
Disease Ontology 12 DOID:2368
ICD10 33 E75.10
SNOMED-CT 64 50967008
Orphanet 56 ORPHA578
UMLS via Orphanet 70 C0238286
ICD10 via Orphanet 34 E75.1
MedGen 40 C0238286
UMLS 69 C0017083

Summaries for Mucolipidosis Iv

NIH Rare Diseases : 50 mucolipidosis type 4 is a metabolic condition that affects the body's ability to process certain carbohydrates and fats. as a result, these materials accumulate in cells leading to the various signs and symptoms of the condition. most people with mucolipidosis type 4 develop severe psychomotor (mental and motor skills) delay by the end of the first year of life and visual impairment that worsens over time. other common features of the condition include limited or absent speech; intellectual disability; hypotonia that gradually progresses to spasticity; problems controlling hand movements; impaired production of stomach acids; and iron deficiency. approximately 5% of affected people have a mild form of the condition (known as atypical mucolipidosis type 4) which is associated with milder psychomotor delay and less severe eye abnormalities. mucolipidosis type 4 is caused by changes (mutations) in the mcoln1 gene and is inherited in an autosomal recessive manner. treatment is based on the signs and symptoms present in each person. last updated: 1/21/2016

MalaCards based summary : Mucolipidosis Iv, also known as mucolipidosis type iv, is related to gangliosidosis gm1 and generalized gangliosidoses, and has symptoms including ataxia, photophobia and nystagmus. An important gene associated with Mucolipidosis Iv is MCOLN1 (Mucolipin 1), and among its related pathways/superpathways are Sphingolipid metabolism and Keratan sulfate/keratin metabolism. The drugs Dexamethasone and Prednisolone have been mentioned in the context of this disorder. Affiliated tissues include eye, skin and brain, and related phenotypes are growth/size/body region and behavior/neurological

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.

OMIM : 54 Mucolipidosis IV is an autosomal recessive neurodegenerative lysosomal storage disorder characterized by psychomotor... (252650) more...

UniProtKB/Swiss-Prot : 66 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.

GeneReviews: NBK1214

Related Diseases for Mucolipidosis Iv

Diseases in the Mucolipidosis Iv family:

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

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

(show top 50) (show all 79)
id Related Disease Score Top Affiliating Genes
1 gangliosidosis gm1 12.4
2 generalized gangliosidoses 12.1
3 tay-sachs disease 12.0
4 gangliosidosis gm2 12.0
5 gm1-gangliosidosis, type ii 11.9
6 gm1-gangliosidosis, type iii 11.9
7 gm1-gangliosidosis, type i 11.9
8 gm2 gangliosidosis, 0 variant 11.9
9 sandhoff disease, infantile, juvenile, and adult forms 11.5
10 gm2-gangliosidosis, ab variant 11.4
11 tay-sachs disease, b1 variant 11.2
12 tay-sachs disease, b variant, juvenile form 11.0
13 tay-sachs disease, b variant, infantile form 11.0
14 tay-sachs disease, b variant, adult form 11.0
15 neuronitis 10.2
16 chronic pyelonephritis 10.2 GLB1 HEXA
17 dystonia 10.1
18 mitochondrial dna depletion syndrome 1 10.1 HEXA PSAP
19 seizures, benign familial infantile, 1 10.1 CTSA HEXA
20 fucosidosis 10.0 CTSA HEXA
21 partial motor epilepsy 10.0 GLB1 HEXA PSAP
22 myasthenia gravis 10.0 CTSA GLB1
23 megakaryocytic leukemia 10.0 CTSA HEXA
24 severe combined immunodeficiency due to ada deficiency 10.0 CTSA GLB1
25 gaucher disease, type ii 10.0 HEXA PSAP
26 motor neuron disease 10.0
27 hyperinsulinemic hypoglycemia, familial, 4 10.0 CTSA HEXA
28 myopia 23, autosomal recessive 9.9 CTSA GLB1 HEXA
29 mongolian spot 9.9
30 spina bifida occulta 9.9 CTSA GLB1 PSAP
31 malignant fibrous histiocytoma of bone 9.9 CTSA GLB1 PSAP
32 nasopharyngeal carcinoma 2 9.9 CTSA GLB1 PSAP
33 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 9.9 GM2A PSAP
34 cerebritis 9.9
35 retinitis 9.9
36 mononeuritis of lower limb 9.8 GLB1 HEXA HEXB MCOLN1 PSAP
37 lysosomal storage disease 9.7
38 muscular atrophy 9.7
39 dementia 9.7
40 neuronal ceroid lipofuscinosis 9.7
41 cardiomyopathy 9.7
42 hepatitis 9.7
43 mannosidosis 9.7 CTSA GLB1 HEXA HEXB MCOLN1
44 muscle disorders 9.7
45 cerebral atrophy 9.6
46 hypotonia 9.6
47 spinal muscular atrophy 9.6
48 spinocerebellar degeneration 9.6
49 generalized dystonia 9.6
50 myopathy 9.6

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



Diseases related to Mucolipidosis Iv

Symptoms & Phenotypes for Mucolipidosis Iv

Symptoms by clinical synopsis from OMIM:

252650

Clinical features from OMIM:

252650

Human phenotypes related to Mucolipidosis Iv:

56 32 (show all 39)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 56 32 Frequent (79-30%) HP:0001251
2 photophobia 56 32 Very frequent (99-80%) HP:0000613
3 nystagmus 56 32 Frequent (79-30%) HP:0000639
4 intellectual disability 56 32 Very frequent (99-80%) HP:0001249
5 muscular hypotonia 56 32 Frequent (79-30%) HP:0001252
6 gait disturbance 56 32 Very frequent (99-80%) HP:0001288
7 hyperreflexia 56 32 Very frequent (99-80%) HP:0001347
8 eeg abnormality 56 32 Frequent (79-30%) HP:0002353
9 coarse facial features 56 32 Occasional (29-5%) HP:0000280
10 corneal opacity 56 32 Very frequent (99-80%) HP:0007957
11 microcephaly 56 32 Occasional (29-5%) HP:0000252
12 abnormality of retinal pigmentation 56 32 Occasional (29-5%) HP:0007703
13 retinopathy 56 32 Very frequent (99-80%) HP:0000488
14 palmoplantar keratoderma 56 32 Occasional (29-5%) HP:0000982
15 aplasia/hypoplasia of the abdominal wall musculature 56 32 Very frequent (99-80%) HP:0010318
16 strabismus 56 32 Very frequent (99-80%) HP:0000486
17 everted lower lip vermilion 56 32 Occasional (29-5%) HP:0000232
18 abnormal electroretinogram 56 32 Occasional (29-5%) HP:0000512
19 microdontia 56 32 Occasional (29-5%) HP:0000691
20 absent speech 56 32 Very frequent (99-80%) HP:0001344
21 genu recurvatum 56 32 Occasional (29-5%) HP:0002816
22 abnormality of ganglioside metabolism 56 32 Very frequent (99-80%) HP:0004345
23 biparietal narrowing 56 32 Occasional (29-5%) HP:0004422
24 abnormal nasal morphology 56 32 Occasional (29-5%) HP:0005105
25 developmental stagnation 56 32 Very frequent (99-80%) HP:0007281
26 abnormality of mucopolysaccharide metabolism 56 32 Very frequent (99-80%) HP:0011020
27 dystonia 32 HP:0001332
28 behavioral abnormality 56 Very frequent (99-80%)
29 global developmental delay 32 HP:0001263
30 optic atrophy 32 HP:0000648
31 spastic tetraplegia 32 HP:0002510
32 opacification of the corneal stroma 32 HP:0007759
33 babinski sign 32 HP:0003487
34 cerebellar atrophy 32 HP:0001272
35 cerebral dysmyelination 32 HP:0007266
36 abnormality of abdomen morphology 32 HP:0001438
37 decreased light- and dark-adapted electroretinogram amplitude 32 HP:0000654
38 progressive retinal degeneration 32 HP:0007893
39 dysplastic corpus callosum 32 HP:0006989

UMLS symptoms related to Mucolipidosis Iv:


photophobia

MGI Mouse Phenotypes related to Mucolipidosis Iv:

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

Drugs & Therapeutics for Mucolipidosis Iv

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

(show top 50) (show all 360)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-02-2 5743
2
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 50-24-8 5755
3
Oxaliplatin Approved, Investigational Phase 4,Phase 2,Phase 1 61825-94-3 5310940 9887054 6857599, 9887054 43805
4
Bupivacaine Approved, Investigational Phase 4,Phase 1 2180-92-9, 38396-39-3 2474
5
Tranexamic Acid Approved Phase 4 1197-18-8 5526
6
Triamcinolone Approved, Vet_approved Phase 4,Phase 1 124-94-7 31307
7 Parecoxib Approved Phase 4 198470-84-7
8
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 83-43-2 6741
9
Fluorouracil Approved Phase 4,Phase 3,Phase 1,Phase 2 51-21-8 3385
10
Dopamine Approved Phase 4,Phase 3,Phase 1 51-61-6, 62-31-7 681
11
Clonidine Approved Phase 4 4205-90-7 2803
12
Paclitaxel Approved, Vet_approved Phase 4,Phase 3,Phase 2 33069-62-4 36314
13
Cisplatin Approved Phase 4,Phase 3,Phase 1,Phase 2 15663-27-1 84093 441203 2767
14
Carboplatin Approved Phase 4,Phase 3,Phase 2 41575-94-4 10339178 498142 38904
15
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
16
Midazolam Approved, Illicit Phase 4,Phase 1 59467-70-8 4192
17
Morphine Approved, Investigational Phase 4,Phase 2,Phase 3 57-27-2 5288826
18
Acetaminophen Approved Phase 4,Phase 2,Phase 3 103-90-2 1983
19
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
20
Haloperidol Approved Phase 4,Phase 3 52-86-8 3559
21
Ketoprofen Approved, Vet_approved Phase 4 22071-15-4 3825
22
Lidocaine Approved, Vet_approved Phase 4,Phase 2 137-58-6 3676
23
Ondansetron Approved Phase 4,Phase 3,Phase 2 99614-02-5 4595
24
Remifentanil Approved Phase 4,Phase 3 132875-61-7 60815
25
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
26
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
27
Miglustat Approved Phase 4,Phase 3,Phase 2 72599-27-0 51634
28
Propofol Approved, Investigational, Vet_approved Phase 4,Phase 3 2078-54-8 4943
29
Alfentanil Approved, Illicit Phase 4 71195-58-9 51263
30
Thiopental Approved, Vet_approved Phase 4 76-75-5 3000715
31
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4,Phase 3 437-38-7 3345
32
Sufentanil Approved, Investigational Phase 4,Phase 3 56030-54-7 41693
33
Prochlorperazine Approved, Vet_approved Phase 4,Phase 3 1984-02-6, 58-38-8 4917
34
Magnesium Sulfate Approved, Vet_approved Phase 4 7487-88-9 24083
35
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
36
Oxytocin Approved, Vet_approved Phase 4 50-56-6 439302 53477758
37
Histamine Approved, Investigational Phase 4 75614-87-8, 51-45-6 774
38
Diphenhydramine Approved Phase 4 58-73-1, 147-24-0 3100
39
Promethazine Approved Phase 4 60-87-7 4927
40
Furosemide Approved, Vet_approved Phase 4 54-31-9 3440
41
leucovorin Approved, Nutraceutical Phase 4,Phase 3,Phase 1,Phase 2 58-05-9 54575, 6560146 143
42
decanoic acid Experimental Phase 4 334-48-5 2969
43
1-Deoxynojirimycin Experimental Phase 4,Phase 3,Phase 2 19130-96-2 1374
44 triamcinolone acetonide Phase 4,Phase 1
45 Prednisolone acetate Phase 4,Phase 3,Phase 2
46 Dexamethasone acetate Phase 4,Phase 3,Phase 2,Phase 1 1177-87-3
47 Analgesics Phase 4,Phase 2,Phase 3,Phase 1
48 Alkylating Agents Phase 4,Phase 2,Phase 3,Phase 1
49 glucocorticoids Phase 4,Phase 3,Phase 2,Phase 1
50
protease inhibitors Phase 4,Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 146)
id Name Status NCT ID Phase
1 Efficacy of Preoperative Intravenous Dexamethasone in Primary Total Knee Arthroplasty Unknown status NCT02102815 Phase 4
2 Effect Study of Parecoxib to Treat Emergence Delirium and Postoperative Pain Unknown status NCT01221025 Phase 4
3 Comparison of Analgesic Consumption Between Perioperative ıv Dexamethasone and Added to Femoral Block Unknown status NCT02090790 Phase 4
4 Safety Study of Hyoscine N Butyl Bromide in Active Management of Labor Completed NCT02098889 Phase 4
5 Safety of Orectalip® (Oxaliplatin) as Adjuvant Treatment for High-risk Stage-Ⅱ Colorectal Cancer Completed NCT02284529 Phase 4
6 Preemptive Analgesia With Intravenous Paracetamol for Post-cesarean Section Pain Control Completed NCT02369133 Phase 4
7 Preventing ICU Subsyndromal Delirium Conversion to Delirium With Haloperidol Completed NCT01174290 Phase 4
8 Oral Self Medication Versus IV Administration of Pain Killers After Caesarian Delivery Completed NCT01566253 Phase 4
9 Acetaminophen for Chronic Pain in Hysterectomy Completed NCT02086747 Phase 4
10 Effects of Articaine Computer-controlled and Conventional Delivery for Anterior and Middle Superior Alveolar Nerve Block Completed NCT02440347 Phase 4
11 Efficacy of Propofol or Midazolam Compare to Placebo for Preoperative Medication Completed NCT01976845 Phase 4
12 The Effect of Clonidine in Glycemia During Coronary Artery Bypass Graft With Cardiopulmonary By-pass Completed NCT01619436 Phase 4
13 Testing of the Drug Tranexamic Acids as Prophylaxis of Bleeding in Benign Surgical Removal of the Uterus Completed NCT01940419 Phase 4
14 Intranasal Midazolam for Treatment of Anxiety in Children Undergoing Suturing in the Pediatric Emergency Department Completed NCT02618772 Phase 4
15 Effect of IV Acetaminophen on Patients in the Neurocritical Care Unit Completed NCT01948505 Phase 4
16 Analgesic Benefits of Perineural Versus Intravenous Dexamethasone in Patients Receiving Sciatic Nerve Block Completed NCT01616173 Phase 4
17 Alfentanil Versus Remifentanil in Patient-controlled Sedation During Endoscopic Retrograde Cholangiopancreatography (ERCP) Completed NCT01350037 Phase 4
18 The Prevention of Pain Associated With Rocuronium Injection Completed NCT02524743 Phase 4
19 Pain Outcomes of Intra-operative IV Tylenol and/or IV Toradol for Carpal Tunnel and Distal Radius Fracture Surgeries Completed NCT02313675 Phase 4
20 The Effect of Intraoperative Ketamine on Opioid Consumption and Pain After Spine Surgery in Opioid-dependent Patients Completed NCT02085577 Phase 4
21 Synergistic Enteral Regimen for Treatment of the Gangliosidoses Recruiting NCT02030015 Phase 4
22 Preloading Magnesium Attenuate Cisplatin-induced Nephrotoxicity Recruiting NCT02481518 Phase 4
23 Effect of Albumin Administration on Vasopressor Duration in Resolving Septic Shock Recruiting NCT02716597 Phase 4
24 Steroids and Microcirculation In Cardiac Surgery Recruiting NCT02798068 Phase 4
25 IV Versus IM Administration of Oxytocin for Postpartum Bleeding Recruiting NCT02954068 Phase 4
26 A Comparison of Dexamethasone and Triamcinolone for Ultrasound-guided Occipital C2 Nerve Blocks Recruiting NCT02655523 Phase 4
27 Evaluate the Efficacy of Xuebijing Injection in Acute Exacerbations of COPD Active, not recruiting NCT02937974 Phase 4
28 Safety and Efficacy Study of Abraxane in Combination With Carboplatin to Treat Advanced NSCL Cancer in the Elderly Active, not recruiting NCT02151149 Phase 4
29 Diphenhydramine as an Adjunctive Sedative in Patients on Chronic Opioids Active, not recruiting NCT01967433 Phase 4
30 Topical Interferon Alfa 2b and Mitomycin C in Conjunctival-Corneal Intraepithelial Neoplasia Active, not recruiting NCT02199327 Phase 4
31 Effect of Furosemide on Confirmation of Ureteral Patency During Routine Cystoscopy Not yet recruiting NCT02960412 Phase 4
32 Tranexamic Acid for Preventing Postpartum Hemorrhage After Cesarean Section Not yet recruiting NCT02936661 Phase 4
33 Intermittent Versus Continuous Infusion Meropenem in Cystic Fibrosis Withdrawn NCT02048163 Phase 4
34 Use of Dexmedetomidine in Children Undergoing Oral Maxillofacial Surgery to Decrease Emergence Delirium Withdrawn NCT01353378 Phase 4
35 Prochlorperazine Versus Prochlorperazine & Ketorolac in Treatment of Pediatric Migraine in the Emergency Department Withdrawn NCT01534806 Phase 4
36 Study on the Effect of Intravenous Ascorbic Acid on Intraoperative Blood Loss in Women With Uterine Myoma Unknown status NCT01715597 Phase 3
37 Trial of FFP+HDMP+Rituximab for Ultra-high Risk Chronic Lymphocytic Leukemia Unknown status NCT01670812 Phase 3
38 Efficacy and Safety of Methylprednisolone Per os Versus IV for the Treatment of Multiple Sclerosis (MS) Relapses Unknown status NCT00984984 Phase 3
39 Efficacy and Safety Study of Sodium Tanshinone IIA Sulfonate on Pulmonary Hypertension Unknown status NCT01637675 Phase 2, Phase 3
40 Pharmacokinetics, Safety and Tolerability of Zavesca (Miglustat) in Patients With Infantile Onset Gangliosidosis: Single and Steady State Oral Doses Completed NCT00672022 Phase 3
41 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3
42 A Randomized Placebo-Controlled Trial of Manuka Honey for Oral Mucositis Due to Radiation Therapy for Cancer Completed NCT00615420 Phase 3
43 Phase III Trial of DP Followed by FOLFIRI or the Reverse Sequence in Unresectable Gastric Cancer Completed NCT00313872 Phase 3
44 Dexamethasone Versus Placebo in Optimizing the Postoperative Period After Laparoscopic Inguinal Hernia Repair Completed NCT01170780 Phase 3
45 Benefits of Exchanging a Double Lumen Tube to a Proseal Laryngeal Mask or a Single Lumen Tube After a Thoracic Surgery Completed NCT00925613 Phase 3
46 Efficacy and Safety of Fosaprepitant Dimeglumine in Preventing Chemotherapy-Induced Nausea and Vomiting (MK-0517-031) Completed NCT01594749 Phase 3
47 Evaluation of Safety and Efficacy of Lumason/SonoVue in Subjects Undergoing Pharmacologic Stress BR1-141 Recruiting NCT02522481 Phase 3
48 Bone Demineralization Lesions in the Injured Marrow: Efficacy and Tolerability of Administration Early and Repeated the Zoledronic Acid. Comparative Study, Prospective, Double-blind Controlled (DBMZol) Recruiting NCT01802658 Phase 3
49 A PhaseⅡ/ Ⅲ Seamless Study to Evaluate Efficacy and Safety of Paracetamol Injection as Adjuvant to Morphine-based Postoperative Analgesia Recruiting NCT02811991 Phase 2, Phase 3
50 Management of Hypotension In the Preterm Infant Recruiting NCT01482559 Phase 3

Search NIH Clinical Center for Mucolipidosis Iv

Cochrane evidence based reviews: gangliosidoses

Genetic Tests for Mucolipidosis Iv

Genetic tests related to Mucolipidosis Iv:

id Genetic test Affiliating Genes
1 Ganglioside Sialidase Deficiency 29
2 Mucolipidosis Iv 24 MCOLN1

Anatomical Context for Mucolipidosis Iv

MalaCards organs/tissues related to Mucolipidosis Iv:

39
Eye, Skin, Brain

Publications for Mucolipidosis Iv

Articles related to Mucolipidosis Iv:

(show top 50) (show all 53)
id Title Authors Year
1
Elucidating the behavioral phenotype of patients affected with mucolipidosis IV: What can we learn from the parents? ( 28392473 )
2017
2
Retinal Dystrophy and Optic Nerve Pathology inA the Mouse Model of Mucolipidosis IV. ( 26608452 )
2016
3
Mucolipidosis IV: A milder form with novel mutations and serial MRI findings. ( 26926398 )
2016
4
The mucolipidosis IV Ca2+ channel TRPML1 (MCOLN1) is regulated by the TOR kinase. ( 26195823 )
2015
5
Impaired myelination and reduced brain ferric iron in the mouse model of mucolipidosis IV. ( 26398942 )
2015
6
Behavioral deficits, early gliosis, dysmyelination and synaptic dysfunction in a mouse model of mucolipidosis IV. ( 25200117 )
2014
7
A novel homozygous MCOLN1 double mutant allele leading to TRP channel domain ablation underlies Mucolipidosis IV in an Italian Child. ( 25156245 )
2014
8
A novel mutation in a large family causes a unique phenotype of Mucolipidosis IV. ( 23685283 )
2013
9
Zinc dyshomeostasis is linked with the loss of mucolipidosis IV-associated TRPML1 ion channel. ( 20864526 )
2010
10
What's your diagnosis? Mucolipidosis IV (Berman syndrome). ( 19496492 )
2009
11
A variant form of mucolipidosis IV: report on 4 patients from the Indian subcontinent. ( 19073851 )
2008
12
Mucolipidosis IV: report of a case with ocular restricted phenotype caused by leaky splice mutation. ( 17239335 )
2007
13
Rapid one-step carrier detection assay of mucolipidosis IV mutations in the Ashkenazi Jewish population. ( 16645217 )
2006
14
Functional links between mucolipin-1 and Ca2+-dependent membrane trafficking in mucolipidosis IV. ( 15336987 )
2004
15
Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of mucolipidosis IV. ( 15523648 )
2004
16
Diffuse neuroaxonal involvement in mucolipidosis IV as assessed by proton magnetic resonance spectroscopic imaging. ( 12940649 )
2003
17
Electronegative electroretinogram in mucolipidosis IV. ( 11786056 )
2002
18
Mucolipidosis IV: novel mutation and diverse ultrastructural spectrum in the skin. ( 12368990 )
2002
19
Mucolipidosis IV in an African American patient with new findings on electron microscopy. ( 11413414 )
2001
20
G(M2)-ganglioside metabolism in situ in mucolipidosis IV fibroblasts. ( 10227679 )
1999
21
Mucolipidosis IV consists of one complementation group. ( 10411915 )
1999
22
Mucolipidosis IV: morphology and histochemistry of an autopsy case. ( 7876885 )
1995
23
Mucolipidosis IV fibroblasts synthesize normal amounts of hyaluronic acid. ( 7837760 )
1994
24
Mucolipidosis IV ( 20301393 )
1993
25
Stimulation of GM3 ganglioside sialidase activity by an activator protein in patients with mucolipidosis IV and controls. ( 1806363 )
1991
26
Muscle involvement in mucolipidosis IV. ( 2288386 )
1990
27
Corneal surface irregularities and episodic pain in a patient with mucolipidosis IV. ( 2302112 )
1990
28
Ganglioside GM3 sialidase activity in fibroblasts of normal individuals and of patients with sialidosis and mucolipidosis IV. Subcellular distribution and and some properties. ( 2775195 )
1989
29
Lysosomal accumulation of phospholipids in mucolipidosis IV cultured fibroblasts. ( 3168971 )
1988
30
Phospholipids accumulation in mucolipidosis IV cultured fibroblasts. ( 3139925 )
1988
31
Early prenatal diagnosis of mucolipidosis IV. ( 3425607 )
1987
32
Internalization of exogenous gangliosides in cultured skin fibroblasts for the diagnosis of mucolipidosis IV. ( 3087662 )
1986
33
Treatment of corneal opacification in mucolipidosis IV with conjunctival transplantation. ( 3970116 )
1985
34
Ocular abnormalities in mucolipidosis IV. ( 3918453 )
1985
35
Retinal function in mucolipidosis IV. ( 4088609 )
1985
36
Mucolipidosis IV. ( 6847966 )
1983
37
A muscle disorder as presenting symptom in a child with mucolipidosis IV. ( 6877526 )
1983
38
Mucolipidosis IV, a sialolipidosis due to ganglioside sialidase deficiency. ( 6820444 )
1982
39
Mucolipidosis IV: prenatal diagnosis by electron microscopy. ( 7156027 )
1982
40
Catalytically defective ganglioside neuraminidase in mucolipidosis IV. ( 6813002 )
1982
41
Review article: mucolipidosis IV. ( 7114093 )
1982
42
Morphologic and chemical biopsy findings in mucolipidosis IV. ( 6301721 )
1982
43
Two brothers with presumed mucolipidosis IV. ( 7171766 )
1982
44
Mucolipidosis IV. Histopathology of conjunctiva, cornea, and skin. ( 220944 )
1979
45
Mucolipidosis IV. ( 231746 )
1979
46
Mucolipidosis IV: fetal and placental pathology. A report on two subsequent interruptions of pregnancy. ( 723903 )
1978
47
Mucolipidosis IV: ultrastructural diagnosis of a recently defined genetic disorder. ( 581454 )
1978
48
Mucopolysaccharide accumulation in cultured skin fibroblasts derived from patients with mucolipidosis IV. ( 145180 )
1977
49
Prenatal diagnosis of mucolipidosis IV by electron microscopy. ( 830895 )
1977
50
The cornea in mucolipidosis IV. ( 1018215 )
1976

Variations for Mucolipidosis Iv

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

66
id 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
5 MCOLN1 p.Leu447Pro VAR_019374 rs797044827
6 MCOLN1 p.Phe465Leu VAR_019375 rs797044828
7 MCOLN1 p.Arg403Cys VAR_038380 rs121908374

ClinVar genetic disease variations for Mucolipidosis Iv:

6 (show all 40)
id Gene Variation Type Significance SNP ID Assembly Location
1 MCOLN1 NM_020533.2(MCOLN1): c.406-2A> G single nucleotide variant Pathogenic rs104886461 GRCh37 Chromosome 19, 7591645: 7591645
2 MCOLN1 NG_015806.1: g.4127_10560del6434 deletion Pathogenic GRCh37 Chromosome 19, 7586622: 7593055
3 MCOLN1 NM_020533.2(MCOLN1): c.964C> T (p.Arg322Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908371 GRCh37 Chromosome 19, 7593569: 7593569
4 MCOLN1 MCOLN1, 3-BP DEL, 1346CTT deletion Pathogenic
5 MCOLN1 NM_020533.2(MCOLN1): c.1084G> T (p.Asp362Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs121908372 GRCh37 Chromosome 19, 7593806: 7593806
6 MCOLN1 NM_020533.2(MCOLN1): c.304C> T (p.Arg102Ter) single nucleotide variant Pathogenic rs121908373 GRCh37 Chromosome 19, 7591391: 7591391
7 MCOLN1 NM_020533.2(MCOLN1): c.1207C> T (p.Arg403Cys) single nucleotide variant Pathogenic rs121908374 GRCh37 Chromosome 19, 7594059: 7594059
8 MCOLN1 MCOLN1, 93-BP INS, NT236 insertion Pathogenic
9 MCOLN1 MCOLN1, 1704A-T single nucleotide variant Pathogenic
10 MCOLN1 NM_020533.2(MCOLN1): c.163_197del35insTCA (p.Lys55Serfs) indel Pathogenic rs797044820 GRCh38 Chromosome 19, 7525092: 7525126
11 MCOLN1 NM_020533.2(MCOLN1): c.235C> T (p.Gln79Ter) single nucleotide variant Pathogenic rs797044832 GRCh38 Chromosome 19, 7525164: 7525164
12 MCOLN1 NM_020533.2(MCOLN1) insertion Pathogenic GRCh38 Chromosome 19, 7525165: 7525166
13 MCOLN1 NM_020533.2(MCOLN1): c.302_303delTC (p.Phe101Serfs) deletion Pathogenic rs797044830 GRCh38 Chromosome 19, 7526503: 7526504
14 MCOLN1 NM_020533.2(MCOLN1): c.317T> C (p.Leu106Pro) single nucleotide variant Pathogenic rs797044825 GRCh38 Chromosome 19, 7526518: 7526518
15 MCOLN1 NM_020533.2(MCOLN1): c.473_474delCC (p.Thr158Lysfs) deletion Pathogenic rs797044821 GRCh38 Chromosome 19, 7526828: 7526829
16 MCOLN1 NM_020533.2(MCOLN1): c.497G> T (p.Cys166Phe) single nucleotide variant Pathogenic rs797044826 GRCh37 Chromosome 19, 7591738: 7591738
17 MCOLN1 NM_020533.2(MCOLN1): c.514C> T (p.Arg172Ter) single nucleotide variant Pathogenic/Likely pathogenic rs797044824 GRCh37 Chromosome 19, 7591755: 7591755
18 MCOLN1 NM_020533.2(MCOLN1): c.694A> C (p.Thr232Pro) single nucleotide variant Pathogenic rs767122713 GRCh37 Chromosome 19, 7592763: 7592763
19 MCOLN1 NM_020533.2(MCOLN1): c.920delT (p.Leu307Profs) deletion Pathogenic/Likely pathogenic rs755042147 GRCh38 Chromosome 19, 7528639: 7528639
20 MCOLN1 NM_020533.2(MCOLN1): c.1210dupT (p.Tyr404Leufs) duplication Pathogenic rs797044822 GRCh38 Chromosome 19, 7529176: 7529176
21 MCOLN1 NM_020533.2(MCOLN1): c.1221_1223delCTT (p.Phe408del) deletion Pathogenic rs797044817 GRCh38 Chromosome 19, 7529187: 7529189
22 MCOLN1 NM_020533.2(MCOLN1): c.1336G> T (p.Val446Leu) single nucleotide variant Pathogenic rs754097561 GRCh38 Chromosome 19, 7529689: 7529689
23 MCOLN1 NM_020533.2(MCOLN1): c.1340T> C (p.Leu447Pro) single nucleotide variant Pathogenic rs797044827 GRCh38 Chromosome 19, 7529693: 7529693
24 MCOLN1 NM_020533.2(MCOLN1): c.1388G> A (p.Cys463Tyr) single nucleotide variant Pathogenic rs797044829 GRCh37 Chromosome 19, 7595200: 7595200
25 MCOLN1 NM_020533.2(MCOLN1): c.1395C> G (p.Phe465Leu) single nucleotide variant Pathogenic rs797044828 GRCh38 Chromosome 19, 7530321: 7530321
26 MCOLN1 NM_020533.2(MCOLN1): c.1406A> G (p.Asn469Ser) single nucleotide variant Pathogenic rs797044818 GRCh38 Chromosome 19, 7530332: 7530332
27 MCOLN1 NM_020533.2(MCOLN1): c.1453_1463dupGGCCGCAGCAG (p.Ser488Argfs) duplication Pathogenic rs797044823 GRCh38 Chromosome 19, 7530379: 7530389
28 MCOLN1 NM_020533.2(MCOLN1): c.1615delG (p.Ala539Profs) deletion Pathogenic rs797044819 GRCh38 Chromosome 19, 7533562: 7533562
29 MCOLN1 NM_020533.2(MCOLN1): c.1704A> T (p.Gly568=) single nucleotide variant Pathogenic rs751298168 GRCh38 Chromosome 19, 7533651: 7533651
30 MCOLN1 AF287270: g.511_6943del undetermined variant Pathogenic
31 MCOLN1 NM_020533.2(MCOLN1): c.31+1G> A single nucleotide variant Likely pathogenic rs1057516246 GRCh38 Chromosome 19, 7522782: 7522782
32 MCOLN1 NM_020533.2(MCOLN1): c.54dupC (p.Asn19Glnfs) duplication Likely pathogenic rs1057516602 GRCh37 Chromosome 19, 7589869: 7589869
33 MCOLN1 NM_020533.2(MCOLN1): c.681-2A> G single nucleotide variant Likely pathogenic rs1057517453 GRCh37 Chromosome 19, 7592748: 7592748
34 MCOLN1 NM_020533.2(MCOLN1): c.855_856insA (p.His286Thrfs) insertion Likely pathogenic rs1057517040 GRCh38 Chromosome 19, 7528235: 7528236
35 MCOLN1 NM_020533.2(MCOLN1): c.984+1G> A single nucleotide variant Likely pathogenic rs767950930 GRCh38 Chromosome 19, 7528704: 7528704
36 MCOLN1 NM_020533.2(MCOLN1): c.1047dupA (p.Phe350Ilefs) duplication Likely pathogenic rs1057516904 GRCh37 Chromosome 19, 7593769: 7593769
37 MCOLN1 NM_020533.2(MCOLN1): c.1135-2A> G single nucleotide variant Likely pathogenic rs1057517335 GRCh37 Chromosome 19, 7593985: 7593985
38 MCOLN1 NM_020533.2(MCOLN1): c.1135-1G> A single nucleotide variant Likely pathogenic rs1057516458 GRCh37 Chromosome 19, 7593986: 7593986
39 MCOLN1 NM_020533.2(MCOLN1): c.1135-1G> C single nucleotide variant Likely pathogenic rs1057516458 GRCh37 Chromosome 19, 7593986: 7593986
40 MCOLN1 NM_020533.2(MCOLN1): c.1447C> T (p.Gln483Ter) single nucleotide variant Likely pathogenic rs1057516531 GRCh37 Chromosome 19, 7595259: 7595259

Expression for Mucolipidosis Iv

Search GEO for disease gene expression data for Mucolipidosis Iv.

Pathways for Mucolipidosis Iv

GO Terms for Mucolipidosis Iv

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

id Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.91 CTSA ETFA GLB1 GM2A HEXA HEXB
2 intracellular membrane-bounded organelle GO:0043231 9.71 CTSA GLB1 MTOR PSAP
3 lysosomal membrane GO:0005765 9.56 CTSA MCOLN1 MTOR PSAP
4 azurophil granule lumen GO:0035578 9.46 CTSA GLB1 GM2A HEXB
5 lysosomal lumen GO:0043202 9.43 CTSA GLB1 GM2A HEXA HEXB PSAP
6 azurophil granule GO:0042582 9.32 HEXA HEXB
7 lysosome GO:0005764 9.23 CTSA GLB1 GM2A HEXA HEXB MCOLN1

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

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.78 GLB1 HEXA HEXB MGEA5
2 carbohydrate metabolic process GO:0005975 9.69 GLB1 HEXA HEXB
3 neutrophil degranulation GO:0043312 9.55 CTSA GLB1 GM2A HEXB PSAP
4 neuromuscular process controlling balance GO:0050885 9.52 GM2A HEXB
5 positive regulation of catalytic activity GO:0043085 9.5 CTSA GM2A PSAP
6 sphingolipid metabolic process GO:0006665 9.49 GM2A PSAP
7 lipid storage GO:0019915 9.46 GM2A HEXB
8 hyaluronan catabolic process GO:0030214 9.43 HEXA HEXB
9 chondroitin sulfate catabolic process GO:0030207 9.4 HEXA HEXB
10 oligosaccharide catabolic process GO:0009313 9.37 GM2A HEXB
11 ganglioside catabolic process GO:0006689 9.26 GM2A HEXB
12 keratan sulfate catabolic process GO:0042340 9.13 GLB1 HEXA HEXB
13 glycosphingolipid metabolic process GO:0006687 9.1 CTSA GLB1 GM2A HEXA HEXB PSAP

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

id Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.85 CTSA GLB1 GM2A HEXA HEXB MGEA5
2 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.43 GLB1 HEXB
3 acetylglucosaminyltransferase activity GO:0008375 9.4 HEXA HEXB
4 enzyme activator activity GO:0008047 9.33 CTSA GM2A PSAP
5 exo-alpha-sialidase activity GO:0004308 9.32 CTSA GLB1
6 beta-galactosidase activity GO:0004565 9.26 GLB1 PSAP
7 hydrolase activity, acting on glycosyl bonds GO:0016798 9.26 GLB1 HEXA HEXB MGEA5
8 beta-N-acetylhexosaminidase activity GO:0004563 8.8 GM2A HEXA HEXB

Sources for Mucolipidosis Iv

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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