SDLT
MCID: ERY030
MIFTS: 20

Erythrocyte Lactate Transporter Defect (SDLT)

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Erythrocyte Lactate Transporter Defect

MalaCards integrated aliases for Erythrocyte Lactate Transporter Defect:

Name: Erythrocyte Lactate Transporter Defect 57 58 72 36 29 13 6 39 70
Metabolic Myopathy Due to Lactate Transporter Defect 58
Lactate Transporter Defect, Myopathy Due to 57
Symptomatic Deficiency in Lactate Transport 72
Sdlt 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
mild phenotype
mildly progressive
symptoms are not apparent at rest


HPO:

31
erythrocyte lactate transporter defect:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM® 57 245340
KEGG 36 H01248
ICD10 via Orphanet 33 G72.8
UMLS via Orphanet 71 C1855577
Orphanet 58 ORPHA171690
MedGen 41 C1855577
SNOMED-CT via HPO 68 263681008
UMLS 70 C1855577

Summaries for Erythrocyte Lactate Transporter Defect

UniProtKB/Swiss-Prot : 72 Symptomatic deficiency in lactate transport: Deficiency of lactate transporter may result in an acidic intracellular environment created by muscle activity with consequent degeneration of muscle and release of myoglobin and creatine kinase. This defect might compromise extreme performance in otherwise healthy individuals.

MalaCards based summary : Erythrocyte Lactate Transporter Defect, also known as metabolic myopathy due to lactate transporter defect, is related to vascular dementia and binswanger's disease. An important gene associated with Erythrocyte Lactate Transporter Defect is SLC16A1 (Solute Carrier Family 16 Member 1). Related phenotypes are elevated serum creatine kinase and exercise-induced muscle fatigue

KEGG : 36 Erythrocyte lactate transporter defect is a rare condition characterized by severe chest pain and muscle cramping on vigorous exercise. The patient was found to have a missense mutation in monocarboxylate transporter 1 (MCT1), the gene for the red cell lactate transporter.

More information from OMIM: 245340

Related Diseases for Erythrocyte Lactate Transporter Defect

Diseases related to Erythrocyte Lactate Transporter Defect via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 2, show less)
# Related Disease Score Top Affiliating Genes
1 vascular dementia 10.0
2 binswanger's disease 10.0

Symptoms & Phenotypes for Erythrocyte Lactate Transporter Defect

Human phenotypes related to Erythrocyte Lactate Transporter Defect:

31 (showing 4, show less)
# Description HPO Frequency HPO Source Accession
1 elevated serum creatine kinase 31 HP:0003236
2 exercise-induced muscle fatigue 31 HP:0009020
3 exercise-induced muscle cramps 31 HP:0003710
4 exercise-induced muscle stiffness 31 HP:0008967

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Muscle Soft Tissue:
exercise-induced muscle fatigue
exercise-induced muscle stiffness
normal muscle biopsy
exercise-induced muscle cramping
symptoms may be induced by heat
more
Laboratory Abnormalities:
increased serum creatine kinase
decreased erythrocyte lactate clearance (transport), 40 to 50% of normal values

Clinical features from OMIM®:

245340 (Updated 20-May-2021)

Drugs & Therapeutics for Erythrocyte Lactate Transporter Defect

Search Clinical Trials , NIH Clinical Center for Erythrocyte Lactate Transporter Defect

Genetic Tests for Erythrocyte Lactate Transporter Defect

Genetic tests related to Erythrocyte Lactate Transporter Defect:

# Genetic test Affiliating Genes
1 Erythrocyte Lactate Transporter Defect 29 SLC16A1

Anatomical Context for Erythrocyte Lactate Transporter Defect

Publications for Erythrocyte Lactate Transporter Defect

Articles related to Erythrocyte Lactate Transporter Defect:

(showing 4, show less)
# Title Authors PMID Year
1
Mutations in MCT1 cDNA in patients with symptomatic deficiency in lactate transport. 61 57 6
10590411 2000
2
Lactate transporter defect: a new disease of muscle. 57 6
3775384 1986
3
Clinical assay of the human erythrocyte lactate transporter. II. Analysis and display of normal human data. 57
3395514 1988
4
Clinical assay of the human erythrocyte lactate transporter. I. Principles, procedure, and validation. 57
3395513 1988

Variations for Erythrocyte Lactate Transporter Defect

ClinVar genetic disease variations for Erythrocyte Lactate Transporter Defect:

6 (showing 2, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC16A1 NM_003051.3(SLC16A1):c.1414G>A (p.Gly472Arg) SNV Pathogenic 8915 rs72552271 GRCh37: 1:113456602-113456602
GRCh38: 1:112913980-112913980
2 SLC16A1 NM_003051.3(SLC16A1):c.610A>G (p.Lys204Glu) SNV Pathogenic 8914 rs80358222 GRCh37: 1:113460418-113460418
GRCh38: 1:112917796-112917796

UniProtKB/Swiss-Prot genetic disease variations for Erythrocyte Lactate Transporter Defect:

72 (showing 2, show less)
# Symbol AA change Variation ID SNP ID
1 SLC16A1 p.Lys204Glu VAR_010434 rs80358222
2 SLC16A1 p.Gly472Arg VAR_010435 rs72552271

Expression for Erythrocyte Lactate Transporter Defect

Search GEO for disease gene expression data for Erythrocyte Lactate Transporter Defect.

Pathways for Erythrocyte Lactate Transporter Defect

GO Terms for Erythrocyte Lactate Transporter Defect

Sources for Erythrocyte Lactate Transporter Defect

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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