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MCT1D
MCID: MNC019
MIFTS: 46

Monocarboxylate Transporter 1 Deficiency (MCT1D)

Categories: Genetic diseases, Metabolic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Monocarboxylate Transporter 1 Deficiency

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MalaCards integrated aliases for Monocarboxylate Transporter 1 Deficiency:

Name: Monocarboxylate Transporter 1 Deficiency 56 73 29 6 39 71
Ketosis 43 71
Mct1d 56 73
Ketoacidosis Due to Monocarboxylate Transporter-1 Deficiency 58

Characteristics:

Orphanet epidemiological data:

58
ketoacidosis due to monocarboxylate transporter-1 deficiency
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy;

OMIM:

56
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
age of onset within the first years of life
episodes brought on by fasting or infection


HPO:

31
monocarboxylate transporter 1 deficiency:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Inborn errors of metabolism


External Ids:

OMIM 56 616095
MeSH 43 D007662
ICD10 via Orphanet 33 E88.8
Orphanet 58 ORPHA438075
UMLS 71 C0022638 C4015186
Sources

Summaries for Monocarboxylate Transporter 1 Deficiency

About this section
UniProtKB/Swiss-Prot : 73 Monocarboxylate transporter 1 deficiency: A metabolic disorder characterized by recurrent ketoacidosis, a pathologic state due to ketone formation exceeding ketone utilization. The clinical consequences of ketoacidosis are vomiting, osmotic diuresis, dehydration, and Kussmaul breathing. The condition may progress to decreased consciousness and, ultimately, death.

MalaCards based summary : Monocarboxylate Transporter 1 Deficiency, also known as ketosis, is related to diabetes mellitus, ketosis-prone and hyperinsulinemic hypoglycemia, familial, 7. An important gene associated with Monocarboxylate Transporter 1 Deficiency is SLC16A1 (Solute Carrier Family 16 Member 1), and among its related pathways/superpathways are Metabolism and Butanoate metabolism. The drugs Rufinamide and Topiramate have been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and testes, and related phenotypes are intellectual disability and global developmental delay

Wikipedia : 74 Monocarboxylate transporter 1 is a protein that in humans is encoded by the SLC16A1 gene (also known as... more...

More information from OMIM: 616095
Sources

Related Diseases for Monocarboxylate Transporter 1 Deficiency

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Diseases related to Monocarboxylate Transporter 1 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 199)
# Related Disease Score Top Affiliating Genes
1 diabetes mellitus, ketosis-prone 34.5 INS GAD1
2 hyperinsulinemic hypoglycemia, familial, 7 32.7 SLC16A1 GLUD1
3 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 30.8 INS GAD1
4 fatty liver disease, nonalcoholic 1 30.0 INS GGT1
5 holocarboxylase synthetase deficiency 29.9 PC HLCS
6 multiple carboxylase deficiency 29.8 PC HLCS
7 hypoglycemia 29.8 SLC16A1 PC INS IAPP GLUD1
8 diabetes mellitus, insulin-dependent 29.6 PTPN3 INS IAPP GAD1
9 hyperinsulinism 29.5 SLC16A1 INS IAPP GLUD1
10 lipid metabolism disorder 29.3 LCAT INS GGT1
11 diabetes mellitus 29.3 LCAT INS IAPP GGT1 GAD1
12 islet cell tumor 29.2 INS IAPP
13 maturity-onset diabetes of the young 28.8 INS IAPP GGT1 GAD1
14 diabetes mellitus, noninsulin-dependent 28.6 LCAT INS IAPP GGT1 GAD1
15 body mass index quantitative trait locus 11 28.3 PC LCAT INS IAPP GGT1
16 propionic acidemia 11.6
17 tropical calcific pancreatitis 11.5
18 succinyl-coa:3-oxoacid-coa transferase deficiency 11.5
19 fructose-1,6-bisphosphatase deficiency 11.3
20 glycogen storage disease vi 11.3
21 3-hydroxy-3-methylglutaryl-coa lyase deficiency 11.2
22 malonyl-coa decarboxylase deficiency 11.2
23 growth hormone deficiency, isolated partial 11.2
24 phosphorylase kinase deficiency 11.2
25 glycogen storage disease type 0 11.2
26 hyperglycemia 10.7
27 ocular motor apraxia 10.6
28 fatty liver disease 10.5
29 mastitis 10.4
30 metabolic acidosis 10.3
31 asphyxia neonatorum 10.3 SLC16A1 INS
32 autoimmune polyendocrine syndrome, type ii 10.3 INS GAD1
33 autoimmune polyendocrine syndrome 10.3 INS GAD1
34 lactic acidosis 10.2
35 hypertriglyceridemia, familial 10.2
36 non-alcoholic fatty liver disease 10.2
37 endometritis 10.2
38 fetal macrosomia 10.2 LCAT INS
39 kwashiorkor 10.2 LCAT INS
40 stiff-person syndrome 10.1 INS GAD1
41 visual epilepsy 10.1
42 acute pancreatitis 10.1
43 hypokalemia 10.1
44 seizure disorder 10.1
45 biotinidase deficiency 10.1 PC HLCS
46 alzheimer disease 6 10.1 INS IAPP
47 urea cycle disorder 10.1 PC HLCS
48 gestational diabetes 10.1
49 major affective disorder 9 10.1
50 major affective disorder 8 10.1

Graphical network of the top 20 diseases related to Monocarboxylate Transporter 1 Deficiency:



Diseases related to Monocarboxylate Transporter 1 Deficiency
Sources

Symptoms & Phenotypes for Monocarboxylate Transporter 1 Deficiency

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Human phenotypes related to Monocarboxylate Transporter 1 Deficiency:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 global developmental delay 31 HP:0001263
3 feeding difficulties 31 HP:0011968
4 ketonuria 31 HP:0002919
5 ketoacidosis 31 HP:0001993
6 ketotic hypoglycemia 31 HP:0012734

Symptoms via clinical synopsis from OMIM:

56
Metabolic Features:
ketotic hypoglycemia
ketoacidosis, severe
ketonuria, marked

Neurologic Central Nervous System:
intellectual disability, mild to moderate (in homozygotes)
developmental delay (in homozygotes)

Abdomen Gastrointestinal:
poor feeding
cyclic vomiting

Clinical features from OMIM:

616095

MGI Mouse Phenotypes related to Monocarboxylate Transporter 1 Deficiency:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.23 GAD1 GGT1 GLUD1 HLCS IAPP INS
Sources

Drugs & Therapeutics for Monocarboxylate Transporter 1 Deficiency

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Drugs for Monocarboxylate Transporter 1 Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 143)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Rufinamide Approved Phase 4 106308-44-5 129228
2
Topiramate Approved Phase 4 97240-79-4 5284627
3
Zonisamide Approved, Investigational Phase 4 68291-97-4 5734
4
Lamotrigine Approved, Investigational Phase 4 84057-84-1 3878
5
Levetiracetam Approved Phase 4 102767-28-2 441341
6
Clobazam Approved, Illicit Phase 4 22316-47-8 2789
7
Carbamazepine Approved, Investigational Phase 4 298-46-4 2554
8
Clonazepam Approved, Illicit Phase 4 1622-61-3 2802
9
Phenytoin Approved, Vet_approved Phase 4 57-41-0 1775
10
Vigabatrin Approved Phase 4 60643-86-9, 68506-86-5 5665
11
Nitrazepam Approved Phase 4 146-22-5 4506
12
Valproic acid Approved, Investigational Phase 4 99-66-1 3121
13
Ethosuximide Approved Phase 4 77-67-8 3291
14
Stiripentol Approved Phase 4 49763-96-4
15
Exenatide Approved, Investigational Phase 4 141758-74-9 15991534
16
Insulin lispro Approved Phase 4 133107-64-9
17
Insulin glulisine Approved Phase 4 207748-29-6
18 Vitamins Phase 4
19 Anticonvulsants Phase 4
20 Anti-Obesity Agents Phase 4
21 Pharmaceutical Solutions Phase 4
22
Calcium Approved, Nutraceutical Phase 2, Phase 3 7440-70-2 271
23 Calcium, Dietary Phase 2, Phase 3
24 Soy Bean Phase 2, Phase 3
25
Temozolomide Approved, Investigational Phase 1, Phase 2 85622-93-1 5394
26
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
27
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 2 70-16-6, 59-43-8 1130
28 Trace Elements Phase 2
29 Micronutrients Phase 2
30 Vitamin B9 Phase 2
31 Vitamin B Complex Phase 2
32 Folate Phase 2
33 Thiamin Phase 2
34 Alkylating Agents Phase 1, Phase 2
35 Biguanides Phase 1
36
Nicotinamide Approved, Investigational 98-92-0 936
37
Chromium Approved 7440-47-3 27668
38 Cranberry Approved, Investigational
39 Grape Approved
40 Ginger Approved
41
Bevacizumab Approved, Investigational Early Phase 1 216974-75-3
42
Pioglitazone Approved, Investigational 111025-46-8 4829
43
Palmitic Acid Approved 57-10-3 985
44
carbamide peroxide Approved 124-43-6
45 Barley Approved
46
Potassium citrate Approved, Investigational, Vet_approved
47
Sodium citrate Approved, Investigational 68-04-2
48
Calcium carbonate Approved, Investigational 471-34-1
49
Ursodeoxycholic acid Approved, Investigational 128-13-2 31401
50
Rosiglitazone Approved, Investigational 122320-73-4 77999

Interventional clinical trials:

(show top 50) (show all 147)
# Name Status NCT ID Phase Drugs
1 A Randomised Controlled Trial of the Ketogenic Diet in the Treatment of Epilepsy in Children Under the Age of Two Years Unknown status NCT02205931 Phase 4 Antiepileptic drug therapy
2 Ketosis-Prone Diabetes in African Americans: Predictive Markers, Underlying Mechanisms, and Treatment Outcomes: The Effects of Metformin vs. Sitagliptin on Beta-Cell Preservation in Obese Subjects With Ketosis-Prone Type 2 Diabetes Mellitus Completed NCT01099618 Phase 4 metformin;placebo;Sitagliptin
3 Comparison Between GLP 1 Analogues and DPP 4 Inhibitors in Type 1 Diabetes Mellitus Completed NCT01235819 Phase 4 Insulin;Sitagliptin;Exenatide
4 Effect of Insulin Glulisine Compared to Insulin Aspart and Insulin Lispro When Administered by Continuous Subcutaneous Insulin Infusion (CSII) on Specific Pump Parameters in Patient With Type 1 Diabetes Mellitus Completed NCT00607087 Phase 4 Insulin glulisine;Insulin lispro;Insulin aspart
5 Basal Insulin in the Management of Patients With Diabetic Ketoacidosis Completed NCT00590044 Phase 4 insulin glargine+ glulisine;NPH + Regular insulin
6 The Efficacy, Short and Long Term Effects of Regular Home Use Vs Diabetic Team - Supported Use of the Medtronic CareLink Therapy Management System in Patients With Diabetes Completed NCT00814476 Phase 4
7 Management of Diabetic Ketoacidosis in Children: Does Early Glargine Prevent Rebound Hyperglycemia? Recruiting NCT03107208 Phase 4 Glargine
8 A Single-center Randomized Double Blinded Control Trial of Intravenous Fluid Content in Children With Diabetic Ketoacidosis Admitted to the Pediatric Intensive Care Unit Suspended NCT03066440 Phase 4 Normal saline;Lactated Ringers
9 An Open-label Evaluation of KetoCal in Initial Combination With the Modified Atkins Diet for the Treatment of Intractable Childhood Epilepsy Completed NCT00681239 Phase 3
10 Internet Administration of the Modified Atkins Diet for Adults With Intractable Epilepsy Completed NCT00436631 Phase 3
11 Fluid Therapy and Cerebral Injury in Pediatric Diabetic Ketoacidosis Completed NCT01365793 Phase 3 0.45% saline replacement fluid;0.9% saline replacement fluid;0.45% saline intravenous fluid;0.9% saline Intravenous fluid
12 6-Month, Multicenter, Randomized, Open-label, 2-Arm, Parallel-group Study Comparing the Efficacy and Safety of a New Formulation of Insulin Glargine and Lantus® Injected Once Daily in Children and Adolescents Age 6 - 17 Years With Type 1 Diabetes Mellitus With a 6-month Safety Extension Period Completed NCT02735044 Phase 3 Insulin glargine,300 U/mL;Insulin glargine (100 units /mL);Background therapy
13 Evaluation Of The Efficacy Of The Modified Atkins Diet In Children With Refractory Epilepsy: A Randomized Controlled Trial. Completed NCT00836836 Phase 2, Phase 3
14 A Phase 2-3, 6-12 Month, Double-blind, Randomized, Placebo-controlled, Parallel-group Study to Investigate the Effects of Daily Administration of AC-1204 in Subjects With Mild to Moderate Alzheimer's Disease Who Are APOE4(-) Withdrawn NCT01211782 Phase 2, Phase 3 caprylic triglyceride;long-chain triglyceride
15 Does a Ketogenic Diet Reduce Delirium in Intensive Care? Part 1: - A Feasibility Study to Test if a Ketogenic Diet Causes Ketosis in Patients on Intensive Care Unknown status NCT02763553 Phase 2
16 The Efficacy of Allogeneic Umbilical Cord Mesenchymal Stem Cell Transplantation to Treat New-onset Type 1 Diabetes With Diabetic Ketoacidosis Unknown status NCT02763423 Phase 2
17 Efficacy of Modified Atkins Diet Versus Ketogenic Diet in Children With Refractory Epilepsy Aged 1 Year to 18 Years: a Randomized Controlled Trial Completed NCT01983163 Phase 2
18 Effects of Glucose Containing Fluid in the Treatment of Acute Dehydration Completed NCT01285713 Phase 2 5% Dextrose (D5) in Normal Saline (NS);Normal Saline (NS)
19 The University of Michigan PCOS Intervention Using Nutritional Ketosis Recruiting NCT03987854 Phase 1, Phase 2
20 Thiamine as Adjunctive Therapy for Diabetic Ketoacidosis Recruiting NCT03717896 Phase 2 200mg IV thiamine in 50mL 0.9% saline;Placebo
21 Phase I/II Prospective Trial for Newly Diagnosed GBM, With Upfront Gross or Subtotal Resection, Followed by Ketogenic Diet With Radiotherapy and Concurrent Temodar(R) Chemotherapy Followed by Adjuvant Temodar(R) Chemotherapy. Terminated NCT02046187 Phase 1, Phase 2 Temozolomide
22 Treatment Development of Triheptanoin for Glucose Transporter Type I Deficiency Withdrawn NCT02021526 Phase 1, Phase 2 Triheptanoin
23 Anti-IL-1 Treatment in Children Diabetic Keto-Acidosis (DKA) at Diagnosis of Type 1 Diabetes. Withdrawn NCT01477476 Phase 2 Anakinra
24 Improving the Response of Recurrent Glioma to Radiation Therapy Through Metabolic Intervention Unknown status NCT02149459 Phase 1 Metformin
25 Use of the Atkins Diet for Children With Intractable Epilepsy: A Comparison of Daily Carbohydrate Limits Completed NCT00181090 Phase 1
26 Use of the Atkins Diet for Adolescents With Chronic Daily Headache. Completed NCT00181064 Phase 1
27 The Effect of a Ketogenic Diet on Blood Glucose, Function and Disease Progress in Acute Stroke Patients Completed NCT01997749 Phase 1
28 IIT2016-17-HU-KETORADTMZ: A Phase 1 Study of a 4-month Ketogenic Diet in Combination With Standard-of-care Radiation and Temozolomide for Patients With Newly/Recently Diagnosed Glioblastoma Recruiting NCT03451799 Phase 1 Standard-of-care Temozolomide
29 Pilot Study of the Modified Atkins Diet for Tourette Syndrome Terminated NCT00952601 Phase 1
30 Assessing Feasibility of Non-invasive Breath Based Acetone Meter -Easy Check- Relative to Finger Capillary Blood Glucose and Beta Hydroxybutyrate Reference Terminated NCT01530347 Phase 1
31 Compliance With American Diabetes Association Treatment Guidelines for Adult Ketoacidosis Unknown status NCT00589680
32 Therapeutic Education in Very Young Children With Diabetes Mellitus. Evaluation of the Impact of a Specific Tool for Parents on Glycemic Control and Prevention of Acute Events (Hypoglycemia and Ketosis) Unknown status NCT01354288
33 Efficacy, Tolerability and Long-Term Adherence of a Modified Ketogenic Diet (Atkins) in the Management of Pharmacoresistant Epilepsy Unknown status NCT00188500
34 Incidence of Postoperative Ketosis and Metabolic Acidosis Unknown status NCT01860001
35 Ketosis, Vascular Inflammation, and Its Therapy (Chromium Supplementation) in Diabetic Patients Unknown status NCT01709123 chromium niacinate;placebo
36 Do Preoperative Carbohydrate Drinks Prevent Preoperative Catabolism in Mothers Undergoing Elective Caesarean Section? A Randomised Controlled Study Unknown status NCT03220997
37 Measurement of the Optic Nerve Sheath Diameter by Optic Ultrasound in Diabetic Ketoacidosis and the Relationship to Cerebral Edema Unknown status NCT02130180
38 Comparison of Ringer Lactate and Isotonic Acetate Solution as Maintenance Fluids in Children Undergoing Elective Laparoscopic Surgery Unknown status NCT02936167
39 Quantification of Ketosis After Intake of Coconut Oil and Caprylic Acid—With and Without Glucose—After a 12-hour Fast: A 6-way Cross-over Study in Healthy Older Adults Completed NCT03904433
40 PET Study of Cerebral Metabolism of 11C-acetoacetate and 18F-FDG in Patients Under Moderate Ketosis Completed NCT02409784
41 Characterization of a Portable Solid-State Breath Acetone Testing Device for Real-Time Ketosis Status and Comparison to Blood Ketone Testing Completed NCT04130724
42 Ketone Bodies Ingested Orally Alter Metabolism for Glucose, Lipid, and Protein Completed NCT02917252
43 Use of the Atkins Diet for Adults With Intractable Epilepsy Completed NCT00121927
44 Ketones & Mitochondrial Heteroplasmy Completed NCT01252979 Early Phase 1
45 Clear Liquids vs Enhanced Clear Liquids; Effect on Labor Performance Completed NCT02524002
46 A Feasibility Trial of the Modified Atkins Diet and Bevacizumab for Recurrent Glioblastoma Completed NCT02768389 Early Phase 1 Bevacizumab
47 Acute Nutritional Ketosis and Exercise in Glycogen Storage Disease Type IIIa Completed NCT03011203
48 Ketosis Prone Diabetes Mellitus in African-Americans: Insulin Signaling, Proteomics, and Outcomes Completed NCT00426413 pioglitazone
49 Modified Ketogenic Diet in Patients With McArdle Disease Part A - a Pilot Study Completed NCT03843606
50 Effectiveness of Subcutaneous Glargine On The Time To Closure of The Anion Gap in Patients Presenting to the Emergency Department With Diabetic Keto-acidosis: A Pilot Study Completed NCT02006342 Insulin Glargine;Regular Insulin

Search NIH Clinical Center for Monocarboxylate Transporter 1 Deficiency

Cochrane evidence based reviews: ketosis

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Genetic Tests for Monocarboxylate Transporter 1 Deficiency

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Genetic tests related to Monocarboxylate Transporter 1 Deficiency:

# Genetic test Affiliating Genes
1 Monocarboxylate Transporter 1 Deficiency 29 SLC16A1
Sources

Anatomical Context for Monocarboxylate Transporter 1 Deficiency

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MalaCards organs/tissues related to Monocarboxylate Transporter 1 Deficiency:

40
Liver, Kidney, Testes, Heart, Brain, Spinal Cord, Breast
Sources

Publications for Monocarboxylate Transporter 1 Deficiency

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Articles related to Monocarboxylate Transporter 1 Deficiency:

(show top 50) (show all 101)
# Title Authors PMID Year
1
Monocarboxylate transporter 1 deficiency and ketone utilization. 61 56
25390740 2014
2
Monocarboxylate transporter-1 deficiency results in severe metabolic acidosis with ketogenic diet in early onset absence epilepsy: Case report. 61
31812089 2020
3
Monocarboxylate transporter 1 deficiency and ketone utilization. 61
25651259 2015
4
Monocarboxylate transporter 1 deficiency and ketone utilization. 61
25651260 2015
5
Monocarboxylate transporter 1 deficiency and ketone utilization. 61
25651261 2015
6
Low cortisol levels in blood from dairy cows with ketosis: a field study. 54
20487518 2010
7
Effects of intravenous glucose load on insulin secretion in patients with ketosis-prone diabetes during near-normoglycemia remission. 54
20067967 2010
8
Lack of lipotoxicity effect on {beta}-cell dysfunction in ketosis-prone type 2 diabetes. 54
20028938 2010
9
[Fulminant type 1 diabetes mellitus]. 54
20408439 2010
10
Lecithin cholesterol acyltransferase (LCAT) activity as a predictor for ketosis and parturient haemoglobinuria in Egyptian water buffaloes. 54
19682715 2010
11
The influence of liberal alcohol consumption on glucose metabolism in patients with type 1 diabetes: a pilot study. 54
19098076 2009
12
[Changes of lipoproteins during insulin therapy in diabetes mellitus type 1]. 54
19702119 2009
13
Atypical onset of diabetes in a teenage girl: a case report. 54
19116001 2008
14
People with type 1 diabetes using short acting analogue insulins are less dehydrated than those with using human soluble insulin prior to onset of diabetic ketoacidosis. 54
18694627 2008
15
The CTLA4 -819 C/T and +49 A/G dimorphisms are associated with Type 1 diabetes in Egyptian children. 54
20300303 2008
16
Treatment of diabetes mellitus using an external insulin pump in clinical practice. 54
18951117 2008
17
Ketosis-prone type 2 diabetes mellitus and human herpesvirus 8 infection in sub-saharan africans. 54
18560004 2008
18
[Diabetic ketoacidosis in adults--update of an old complication]. 54
18209885 2007
19
A morning dose of insulin glargine prevents nocturnal ketosis after postprandial interruption of continuous subcutaneous insulin infusion with insulin lispro. 54
18032083 2007
20
[Switching of NPH insulin to glargine therapy in a cohort of diabetic patients: observational study]. 54
17546241 2007
21
Metabolic control with insulin pump therapy: the Waikato experience. 54
17277817 2007
22
[Dietary management of diabetic pregnancy]. 54
17111716 2006
23
Safety and efficacy of blood glucose management practices at a diabetes camp. 54
16972974 2006
24
Performance of the continuous glucose monitoring system (CGMS) during development of ketosis in patients on insulin pump therapy. 54
16978378 2006
25
Juvenile fibrocalculous pancreatopathy--a patient report. 54
16995576 2006
26
Detection of ketonemia and its relationship with hyperglycemia in type 1 diabetic patients. 54
16297489 2006
27
Sick day management using blood 3-hydroxybutyrate (3-OHB) compared with urine ketone monitoring reduces hospital visits in young people with T1DM: a randomized clinical trial. 54
16492211 2006
28
[Secondary forms of diabetes mellitus associated with endocrine diseases]. 54
16035309 2005
29
Inhibition of glucagon secretion. 54
16492545 2005
30
Patients homozygous for the T435N mutation of succinyl-CoA:3-ketoacid CoA Transferase (SCOT) do not show permanent ketosis. 54
15496607 2004
31
Autoimmunity to islet proteins in children diagnosed with new-onset diabetes. 54
15126545 2004
32
[Clinical characteristics and outcome of adult diabetic patients with ketosis as the initial manifestation: a follow-up study]. 54
15132798 2004
33
The therapeutic implications of ketone bodies: the effects of ketone bodies in pathological conditions: ketosis, ketogenic diet, redox states, insulin resistance, and mitochondrial metabolism. 54
14769489 2004
34
Glucose and insulin requirements during labor and delivery: the case for normoglycemia in pregnancies complicated by diabetes. 54
15251639 2004
35
[Subclassification of seronegative type 1 diabetic subjects with HLA-DQ genotypes]. 54
15059369 2004
36
The effects of a single injection of dexamethasone-21-isonicotinate on the lymphocyte functions of dairy cows at two weeks post partum. 54
15099507 2004
37
Tropical chronic pancreatitis. 54
14654569 2003
38
Extreme subcutaneous insulin resistance: a misunderstood syndrome. 54
14631332 2003
39
Metabolic syndrome and low-carbohydrate ketogenic diets in the medical school biochemistry curriculum. 54
18370662 2003
40
[Value of glutamic acid decarboxylase autoantibody detection for early diagnosis of latent autoimmune diabetes in adults]. 54
12919925 2003
41
Accuracy of an electrochemical sensor for measuring capillary blood ketones by fingerstick samples during metabolic deterioration after continuous subcutaneous insulin infusion interruption in type 1 diabetic patients. 54
12663586 2003
42
Tropical chronic pancreatitis: an update. 54
12642742 2003
43
[A 50-year history of new drugs in Japan-the development and progress of anti-diabetic drugs and the epidemiological aspects of diabetes mellitus]. 54
14570054 2003
44
Clinical and biochemical profiles of young diabetics in North-Eastern India. 54
12516694 2002
45
[Sports and type I diabetes: personal experience]. 54
12422437 2002
46
Autoantibodies to tissue transglutaminase in patients from eastern India with malnutrition-modulated diabetes mellitus, insulin-dependent diabetes mellitus, and non-insulin-dependent diabetes mellitus. 54
12021113 2002
47
Molecular mechanisms involved in the etiopathogenesis of malnutrition-modulated diabetes mellitus. 54
12021093 2002
48
Beta cell rest and recovery--does it bring patients with latent autoimmune diabetes in adults to euglycemia? 54
12021087 2002
49
Pathogenic mechanism, prophylaxis, and therapy of symptomatic acidosis induced by acetazolamide. 54
11928941 2002
50
Severe diabetes in remission: a Singapore's perspective. 54
11817290 2001
Sources

Variations for Monocarboxylate Transporter 1 Deficiency

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ClinVar genetic disease variations for Monocarboxylate Transporter 1 Deficiency:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC16A1 NM_003051.4(SLC16A1):c.1079del (p.Ala360fs)deletion Likely pathogenic 800884 1:113459949-113459949 1:112917327-112917327

UniProtKB/Swiss-Prot genetic disease variations for Monocarboxylate Transporter 1 Deficiency:

73
# Symbol AA change Variation ID SNP ID
1 SLC16A1 p.Arg313Gln VAR_072428 rs606231302

Sources

Expression for Monocarboxylate Transporter 1 Deficiency

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Search GEO for disease gene expression data for Monocarboxylate Transporter 1 Deficiency.
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Pathways for Monocarboxylate Transporter 1 Deficiency

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Pathways related to Monocarboxylate Transporter 1 Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Metabolism 65
Show member pathways
 12.93 SLC16A1 PC OXCT1 LCAT INS HLCS
2
Butanoate metabolism 36
Show member pathways
 10.9 OXCT1 GAD1
3
Alanine, aspartate and glutamate metabolism 36
10.81 GLUD1 GAD1
4
Alanine and aspartate metabolism 1
Show member pathways
 10.27 PC GAD1
5
Taurine and hypotaurine metabolism 36
10 GGT1 GAD1
Sources

GO Terms for Monocarboxylate Transporter 1 Deficiency

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Biological processes related to Monocarboxylate Transporter 1 Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular amino acid metabolic process GO:0006520 9.26 GLUD1 GGT1
2 pyruvate metabolic process GO:0006090 9.16 SLC16A1 PC
3 biotin metabolic process GO:0006768 8.96 PC HLCS
4 glutamate catabolic process GO:0006538 8.62 GLUD1 GAD1

Molecular functions related to Monocarboxylate Transporter 1 Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 biotin binding GO:0009374 8.62 PC HLCS
Sources

Sources for Monocarboxylate Transporter 1 Deficiency

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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