MCID: MNC019
MIFTS: 34

Monocarboxylate Transporter 1 Deficiency

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Monocarboxylate Transporter 1 Deficiency

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 dominant
autosomal recessive

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 dominant inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

OMIM 57 616095
Orphanet 59 ORPHA438075
ICD10 via Orphanet 34 E88.8
MeSH 44 D007662

Summaries for Monocarboxylate Transporter 1 Deficiency

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 holocarboxylase synthetase deficiency. 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. 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

Related Diseases for Monocarboxylate Transporter 1 Deficiency

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

(show all 49)
# Related Disease Score Top Affiliating Genes
1 diabetes mellitus, ketosis-prone 34.4 GAD1 INS
2 holocarboxylase synthetase deficiency 29.9 HLCS PC
3 diabetes mellitus, noninsulin-dependent 27.0 GGT1 IAPP INS LCAT PTPN3
4 hyperinsulinemic hypoglycemia, familial, 7 11.2
5 fructose-1,6-bisphosphatase deficiency 11.0
6 glycogen storage disease vi 10.9
7 malonyl-coa decarboxylase deficiency 10.9
8 propionic acidemia 10.9
9 tropical calcific pancreatitis 10.9
10 growth hormone deficiency, isolated partial 10.9
11 autoimmune polyendocrine syndrome, type ii 10.5 GAD1 INS
12 stiff-person syndrome 10.4 GAD1 INS
13 prediabetes syndrome 10.4 GAD1 INS
14 biotin deficiency 10.4 HLCS PC
15 multiple carboxylase deficiency 10.4 HLCS PC
16 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.3 GAD1 INS
17 carbohydrate metabolic disorder 10.3 HLCS INS
18 fetal macrosomia 10.3 INS LCAT
19 diabetes mellitus 10.2
20 algoneurodystrophy 10.1 GGT1 LCAT
21 methylmalonic aciduria, cblb type 10.0 HLCS PC
22 3-hydroxyacyl-coa dehydrogenase deficiency 10.0 GLUD1 INS
23 hyperinsulinemic hypoglycemia 10.0 GLUD1 INS SLC16A1
24 hyperglycemia 10.0
25 pancreatitis 10.0
26 hypoglycemia 10.0 GLUD1 INS SLC16A1
27 coronary heart disease 1 9.9 INS LCAT
28 multiple endocrine neoplasia, type i 9.7
29 lipodystrophy, familial partial, type 2 9.7
30 human herpesvirus 8 9.7
31 west syndrome 9.7
32 hepatitis 9.7
33 metabolic acidosis 9.7
34 endometritis 9.7
35 mastitis 9.7
36 megaloblastic anemia 9.7
37 gastroenteritis 9.7
38 acromegaly 9.7
39 acute pancreatitis 9.7
40 lactic acidosis 9.7
41 pneumonia 9.7
42 influenza 9.7
43 fatty liver disease 9.7
44 monogenic diabetes 9.7
45 multiple endocrine neoplasia 9.7
46 endotheliitis 9.7
47 fibrocalculous pancreatopathy 9.7
48 familial hyperlipidemia 9.7 INS LCAT
49 diabetes mellitus, insulin-dependent 8.8 GAD1 IAPP INS PTPN3

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



Diseases related to Monocarboxylate Transporter 1 Deficiency

Symptoms & Phenotypes for Monocarboxylate Transporter 1 Deficiency

Symptoms via clinical synopsis from OMIM:

57
Abdomen Gastrointestinal:
poor feeding
cyclic vomiting

Metabolic Features:
ketoacidosis, severe
ketonuria, marked
ketotic hypoglycemia

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


Clinical features from OMIM:

616095

Human phenotypes related to Monocarboxylate Transporter 1 Deficiency:

32
# 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 ketoacidosis 32 HP:0001993
5 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 GGT1 GLUD1 IAPP INS LCAT OXCT1

Drugs & Therapeutics for Monocarboxylate Transporter 1 Deficiency

Search Clinical Trials , NIH Clinical Center for Monocarboxylate Transporter 1 Deficiency

Cochrane evidence based reviews: ketosis

Genetic Tests for Monocarboxylate Transporter 1 Deficiency

Genetic tests related to Monocarboxylate Transporter 1 Deficiency:

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

Anatomical Context for Monocarboxylate Transporter 1 Deficiency

Publications for Monocarboxylate Transporter 1 Deficiency

Articles related to Monocarboxylate Transporter 1 Deficiency:

# Title Authors Year
1
Monocarboxylate transporter 1 deficiency and ketone utilization. ( 25390740 )
2014

Variations for Monocarboxylate Transporter 1 Deficiency

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

Expression for Monocarboxylate Transporter 1 Deficiency

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

Pathways for Monocarboxylate Transporter 1 Deficiency

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.91 GAD1 GGT1 GLUD1 HLCS INS LCAT
2 12.03 GAD1 GLUD1 INS
3
Show member pathways
10.9 GAD1 OXCT1
4 10.8 GAD1 GLUD1
5
Show member pathways
10.27 GAD1 PC
6 10 GAD1 GGT1

GO Terms for Monocarboxylate Transporter 1 Deficiency

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

Sources for Monocarboxylate Transporter 1 Deficiency

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
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