Monocarboxylate Transporter 1 Deficiency disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Other metabolic disorders

Other specified metabolic disorders

Orphanet: ⁵⁹

Inborn errors of metabolism

External Ids:

OMIM ⁵⁷ 616095

Orphanet ⁵⁹ ORPHA438075

ICD10 via Orphanet ³⁴ E88.8

MedGen ⁴² C4015186 CN221290

MeSH ⁴⁴ D007662

SNOMED-CT via HPO ⁶⁹ 263681008 258211005 228156007 more

UMLS ⁷³ C4015186 C0022638

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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

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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:

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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 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

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Drugs & Therapeutics for Monocarboxylate Transporter 1 Deficiency

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

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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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 )	van Hasselt P.M....van Haaften G.	2014

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Genes for Monocarboxylate Transporter 1 Deficiency

Genes related to Monocarboxylate Transporter 1 Deficiency (1 elite genes):

(show all 11)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SLC16A1	Solute Carrier Family 16 Member 1	Protein Coding	1288.71	Molecular basis known ⁵⁷ Causative germline mutation (loss of function) ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Publications Variants (show sections)
2	INS	Insulin	Protein Coding	19.51	Novoseek inferred ⁵⁵ GeneCards inferred via : Novoseek inferred (show sections)	9589247 18032083 9465772 (more) 15132798 12919925 7863172 8636382 2343336 1915515 11219236 12021087 15251639 17546241 18209885 19116001 19702119 1813323 1629924 1519609 9282605 9179463 10374307 11225212 11137179 2108273 12021113 11591629 11202216 9283776 20028938 19098076 17277817 16972974 11817290 11594299 9011147 7883295 1903465 1995280 2276309 20487518 7587854 10975220 1777907 1914533 2057287 2307153 18560004 18370662 16978378 15126545 20067967 14654569 14570054 12642742 11487174 11215678 9096965 7607050 8436669 18951117 12516694 17111716 16995576 16035309 14769489 12422437 11456277 9167100 2112100 12663586 11795838 10334319 10546033 8621010 8496310 8485955 1960041 20300303 18694627 12021093 14631332 15099507 16297489 16492211
3	OXCT1	3-Oxoacid CoA-Transferase 1	Protein Coding	18.26	Novoseek inferred ⁵⁵ GeneCards inferred via : Novoseek inferred (show sections)	11757586 15496607
4	HLCS	Holocarboxylase Synthetase	Protein Coding	16.01	Novoseek inferred ⁵⁵ GeneCards inferred via : Novoseek inferred (show sections)	11196112
5	GAD1	Glutamate Decarboxylase 1	Protein Coding	15.99	Novoseek inferred ⁵⁵ GeneCards inferred via : Novoseek inferred (show sections)	15132798 20408439
6	PC	Pyruvate Carboxylase	Protein Coding	15.31	Novoseek inferred ⁵⁵ GeneCards inferred via : Novoseek inferred (show sections)	11928941
7	LCAT	Lecithin-Cholesterol Acyltransferase	Protein Coding	15.29	Novoseek inferred ⁵⁵ GeneCards inferred via : Novoseek inferred (show sections)	10066125 11193341 19682715
8	GLUD1	Glutamate Dehydrogenase 1	Protein Coding	14.93	Novoseek inferred ⁵⁵ GeneCards inferred via : Novoseek inferred (show sections)	9465772
9	PTPN3	Protein Tyrosine Phosphatase, Non-Receptor Type 3	Protein Coding	14.32	Novoseek inferred ⁵⁵ GeneCards inferred via : Novoseek inferred (show sections)	15059369
10	IAPP	Islet Amyloid Polypeptide	Protein Coding	13.29	Novoseek inferred ⁵⁵ GeneCards inferred via : Novoseek inferred (show sections)	16492545
11	GGT1	Gamma-Glutamyltransferase 1	Protein Coding	3.67	Novoseek inferred ⁵⁵	9465772 9719761

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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

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Expression for Monocarboxylate Transporter 1 Deficiency

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

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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	Metabolism ⁶⁶ Show member pathways Metabolic pathways ³⁷ Metabolism of lipids and lipoproteins ⁶⁶	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 Synthesis and degradation of ketone bodies ³⁷	10.9	GAD1 OXCT1
4	Alanine, aspartate and glutamate metabolism ³⁷	10.8	GAD1 GLUD1
5	Alanine and aspartate metabolism ¹ Show member pathways alanine biosynthesis/degradation ¹	10.27	GAD1 PC
6	Taurine and hypotaurine metabolism ³⁷	10	GAD1 GGT1

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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

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