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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
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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 57 75 29 40 73
Ketosis 44 73
Mct1d 57 75
Ketoacidosis Due to Monocarboxylate Transporter-1 Deficiency 59

Characteristics:

Orphanet epidemiological data:

59
ketoacidosis due to monocarboxylate transporter-1 deficiency
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy;

OMIM:

57
Inheritance:
autosomal recessive
autosomal dominant

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


HPO:

32
monocarboxylate transporter 1 deficiency:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Inborn errors of metabolism


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Summaries for Monocarboxylate Transporter 1 Deficiency

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UniProtKB/Swiss-Prot : 75 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 Glucose / Energy Metabolism. Affiliated tissues include liver, testes and brain, and related phenotypes are intellectual disability and global developmental delay

Wikipedia : 76 Monocarboxylate transporter 1 is a protein that in humans is encoded by the SLC16A1 gene (also known as... more...

Description from OMIM: 616095
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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 80)
# Related Disease Score Top Affiliating Genes
1 diabetes mellitus, ketosis-prone 34.2 GAD1 INS
2 hyperinsulinemic hypoglycemia, familial, 7 32.6 INS SLC16A1
3 hypoglycemia 30.3 GLUD1 INS SLC16A1
4 holocarboxylase synthetase deficiency 29.8 HLCS PC
5 diabetes mellitus, noninsulin-dependent 29.6 GGT1 IAPP INS LCAT PTPN3
6 diabetes mellitus, insulin-dependent 29.1 GAD1 IAPP INS PTPN3
7 propionic acidemia 11.3
8 fructose-1,6-bisphosphatase deficiency 11.2
9 glycogen storage disease vi 11.0
10 malonyl-coa decarboxylase deficiency 11.0
11 tropical calcific pancreatitis 11.0
12 growth hormone deficiency, isolated partial 11.0
13 diabetes mellitus 10.5
14 hyperglycemia 10.4
15 fatty liver disease 10.3
16 epilepsy 10.2
17 autoimmune polyendocrine syndrome, type ii 10.2 GAD1 INS
18 mastitis 10.1
19 stiff-person syndrome 10.1 GAD1 INS
20 biotin deficiency 10.1 HLCS PC
21 multiple carboxylase deficiency 10.1 HLCS PC
22 prediabetes syndrome 10.1 GAD1 INS
23 lactic acidosis 10.1
24 hyperinsulinemic hypoglycemia, familial, 6 10.1 GLUD1 INS
25 fetal macrosomia 10.1 INS LCAT
26 algoneurodystrophy 10.0 GGT1 LCAT
27 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0 GAD1 INS
28 acute pancreatitis 10.0
29 pancreatitis 10.0
30 hypoxia 10.0
31 hyperinsulinemic hypoglycemia 10.0 GLUD1 INS SLC16A1
32 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency 10.0 HLCS PC
33 pancreatic cystadenoma 10.0 IAPP INS
34 insulinoma 9.9
35 ischemia 9.9
36 islet cell tumor 9.9 IAPP INS
37 gastrointestinal system benign neoplasm 9.9 IAPP INS
38 3-hydroxyacyl-coa dehydrogenase deficiency 9.9 GLUD1 INS
39 multiple endocrine neoplasia, type i 9.8
40 hypertriglyceridemia, familial 9.8
41 mitochondrial myopathy 9.8
42 neutrophil actin dysfunction 9.8
43 maturity-onset diabetes of the young 9.8
44 myocardial infarction 9.8
45 hypertriglyceridemia, transient infantile 9.8
46 human herpesvirus 8 9.8
47 west syndrome 9.8
48 burns 9.8
49 cataract 9.8
50 glycogen storage disease 9.8

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



Diseases related to Monocarboxylate Transporter 1 Deficiency
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Symptoms & Phenotypes for Monocarboxylate Transporter 1 Deficiency

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Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Monocarboxylate Transporter 1 Deficiency:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 global developmental delay 32 HP:0001263
3 feeding difficulties 32 HP:0011968
4 ketonuria 32 HP:0002919
5 ketoacidosis 32 HP:0001993
6 ketotic hypoglycemia 32 HP:0012734

MGI Mouse Phenotypes related to Monocarboxylate Transporter 1 Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.56 GAD1 GGT1 GLUD1 IAPP INS PC
2 homeostasis/metabolism MP:0005376 9.23 GAD1 GGT1 GLUD1 IAPP INS LCAT
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Drugs & Therapeutics for Monocarboxylate Transporter 1 Deficiency

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Search Clinical Trials , 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
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Anatomical Context for Monocarboxylate Transporter 1 Deficiency

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MalaCards organs/tissues related to Monocarboxylate Transporter 1 Deficiency:

41
Liver, Testes, Brain, T Cells, Heart, Kidney, Cortex
Sources

Publications for Monocarboxylate Transporter 1 Deficiency

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Articles related to Monocarboxylate Transporter 1 Deficiency:

(show top 50) (show all 852)
# Title Authors Year
1
Prediabetes Directly Deteriorates into Diabetic Ketoacidosis and Hyperosmolar Hyperglycemic Syndrome Triggered by Acute Pancreatitis: A Case Report Illustrating a "Chicken and Egg" Paradigm in Ketosis-Prone Diabetes. ( 29600506 )
2018
2
Acute pancreatitis secondary to hypertriglyceridemia precipitated by diabetic ketoacidosis in a previously undiagnosed ketosis-prone patient with diabetes mellitus. ( 29706815 )
2018
3
Heterogeneous clinical features of ketosis-prone type 2 diabetes mellitus patients: gender, age, loss of weight and HbA1c. ( 30482009 )
2018
4
Prevalence and clinical characteristics of non-alcoholic fatty liver disease in newly diagnosed patients with ketosis-onset diabetes. ( 29631765 )
2018
5
Nutritional Ketosis Increases NAD+/NADH Ratio in Healthy Human Brain: An in Vivo Study by 31P-MRS. ( 30050907 )
2018
6
Estimating the economic impact of subclinical ketosis in dairy cattle using a dynamic stochastic simulation model. ( 28637532 )
2018
7
Prevalence of and risk factors for diabetic ketosis in Chinese diabetic patients with random blood glucose levels >13.9 mmol/L: Results from the CHina study in prEvalence of diabetiC Ketosis (CHECK) study. ( 28685968 )
2018
8
Effect of two treatment protocols for ketosis on the resolution, postpartum health, milk yield, and reproductive outcomes of dairy cows. ( 29035838 )
2018
9
Genome-wide association study for ketosis in US Jerseys using producer-recorded data. ( 29128227 )
2018
10
Elevated unmethylated and methylated insulin DNA are unique markers of A+β+ ketosis prone diabetes. ( 29175121 )
2018
11
In Uncontrolled Diabetes, Hyperglucagonemia and Ketosis Result From Deficient Leptin Action in the Parabrachial Nucleus. ( 29438473 )
2018
12
Arginine Metabolism Is Altered in Adults with A-β + Ketosis-Prone Diabetes. ( 29490093 )
2018
13
Arginine Metabolism and A-β + Ketosis-Prone Diabetes. ( 29490106 )
2018
14
Candidate gene association analyses for ketosis resistance in Holsteins. ( 29550117 )
2018
15
The use of nutritional supplements to induce ketosis and reduce symptoms associated with keto-induction: a narrative review. ( 29576959 )
2018
16
Nutritional Ketosis and Mitohormesis: Potential Implications for Mitochondrial Function and Human Health. ( 29607218 )
2018
17
The concentration of free amino acids in blood serum of dairy cows with primary ketosis. ( 29624009 )
2018
18
Cardiovascular disease risk factor responses to a type 2 diabetes care model including nutritional ketosis induced by sustained carbohydrate restriction at 1 year: an open label, non-randomized, controlled study. ( 29712560 )
2018
19
Risk factors for clinical ketosis and association with milk production and reproduction variables in dairy cows in a hot environment. ( 29717378 )
2018
20
Prepartal standing behavior as a parameter for early detection of postpartal subclinical ketosis associated with inflammation and liver function biomarkers in peripartal dairy cows. ( 29935824 )
2018
21
The Effect of Medium Chain Triglycerides on Time to Nutritional Ketosis and Symptoms of Keto-Induction in Healthy Adults: A Randomised Controlled Clinical Trial. ( 29951312 )
2018
22
Nutritional ketosis delays the onset of isoflurane induced anesthesia. ( 30021521 )
2018
23
Nutritional Ketosis for Weight Management and Reversal of Metabolic Syndrome. ( 30128963 )
2018
24
Ketosis-Prone Diabetes (Flatbush Diabetes): an Emerging Worldwide Clinically Important Entity. ( 30280274 )
2018
25
Acute phase ketosis-prone atypical diabetes is associated with a pro-inflammatory profile: a case-control study in a sub-Saharan African population. ( 30288384 )
2018
26
Added dietary cobalt or vitamin B12, or injecting vitamin B12 does not improve performance or indicators of ketosis in pre- and post-partum Holstein-Friesian dairy cows. ( 30289090 )
2018
27
Autoantibodies to the IA-2 Extracellular Domain Refine the Definition of "A+" Subtypes of Ketosis-Prone Diabetes. ( 30327357 )
2018
28
Identification of IQ motif-containing GTPase-activating protein 1 as a regulator of long-term ketosis. ( 30385723 )
2018
29
Eruptive xanthomas in a patient with soft-drink diabetic ketosis and apolipoprotein E4/2. ( 30393272 )
2018
30
Expression patterns of hepatic genes involved in lipid metabolism in cows with subclinical or clinical ketosis. ( 30471902 )
2018
31
Ketosis-prone diabetes and SLE co-presenting in an African lady with previous gestational diabetes. ( 29026609 )
2017
32
Healthcare Resource Utilization and Costs Associated with Ketosis Events in Pediatric and Adult Patients with Type 1 Diabetes Mellitus in the UK. ( 28905317 )
2017
33
Electrocardiographic changes in children with diabetic ketoacidosis and ketosis. ( 29483798 )
2017
34
Prolonged Ketosis in a Patient With Euglycemic Diabetic Ketoacidosis Secondary to Dapagliflozin. ( 28589154 )
2017
35
Ketosis and diabetic ketoacidosis in response to SGLT2 inhibitors: Basic mechanisms and therapeutic perspectives. ( 28099783 )
2017
36
Genetic diagnosis and treatment of a Chinese ketosis-prone MODY 3 family with depression. ( 28105082 )
2017
37
Relationship between HHV8 infection markers and insulin sensitivity in ketosis-prone diabetes. ( 27262367 )
2017
38
Diabetic ketosis during hyperglycemic crisis is associated with decreased all-cause mortality in patients with type 2 diabetes mellitus. ( 27592119 )
2017
39
Inverse relationship between brain glucose and ketone metabolism in adults during short-term moderate dietary ketosis: A dual tracer quantitative positron emission tomography study. ( 27629100 )
2017
40
Ketosis-prone atypical diabetes in Cameroonian people with hyperglycaemic crisis: frequency, clinical and metabolic phenotypes. ( 27657549 )
2017
41
Momilactone B Inhibits Ketosis In Vitro by Regulating the ANGPTL3-LPL Pathway and Inhibiting HMGCS2. ( 27874312 )
2017
42
Significance of insulin resistance and oxidative stress in dairy cattle with subclinical ketosis during the transition period. ( 27975191 )
2017
43
Investigating the within-herd prevalence and risk factors for ketosis in dairy cattle in Ontario as diagnosed by the test-day concentration of β-hydroxybutyrate in milk. ( 28012623 )
2017
44
Effects of a combination butaphosphan and cyanocobalamin product and insulin on ketosis resolution and milk production. ( 28215889 )
2017
45
Randomized clinical field trial on the effects of butaphosphan-cyanocobalamin and propylene glycol on ketosis resolution and milk production. ( 28259407 )
2017
46
Euglycemic ketosis in patients with type 2 diabetes on SGLT2-inhibitor therapy-an emerging problem and solutions offered by diabetes technology. ( 28303514 )
2017
47
Evaluation of a point-of-care electrochemical meter to detect subclinical ketosis and hypoglycaemia in lactating dairy cows. ( 28346669 )
2017
48
Economic Synergy between Dry Cow Diet Improvement and Monensin Bolus Use to Prevent Subclinical Ketosis: An Experimental Demonstration Based on Available Literature. ( 28382302 )
2017
49
Induced and controlled dietary ketosis as a regulator of obesity and metabolic syndrome pathologies. ( 28433617 )
2017
50
Towards practical application of sensors for monitoring animal health; design and validation of a model to detect ketosis. ( 28524012 )
2017
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Variations for Monocarboxylate Transporter 1 Deficiency

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

75
# Symbol AA change Variation ID SNP ID
1 SLC16A1 p.Arg313Gln VAR_072428 rs606231302

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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 66
Show member pathways
 12.91 GAD1 GGT1 GLUD1 HLCS INS LCAT
2
Glucose / Energy Metabolism 4
12.03 GAD1 GLUD1 INS
3
Butanoate metabolism 37
Show member pathways
 10.9 GAD1 OXCT1
4
Alanine, aspartate and glutamate metabolism 37
10.8 GAD1 GLUD1
5
Alanine and aspartate metabolism 1
Show member pathways
 10.27 GAD1 PC
6
Taurine and hypotaurine metabolism 37
10 GAD1 GGT1
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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 GGT1 GLUD1
2 pyruvate metabolic process GO:0006090 9.16 PC SLC16A1
3 biotin metabolic process GO:0006768 8.96 HLCS PC
4 glutamate catabolic process GO:0006538 8.62 GAD1 GLUD1

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 HLCS PC
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Sources for Monocarboxylate Transporter 1 Deficiency

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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