SDLT
MCID: ERY030
MIFTS: 18

Erythrocyte Lactate Transporter Defect (SDLT)

Categories: Genetic diseases, Metabolic 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 58 60 76 38 30 13 6 41 74
Metabolic Myopathy Due to Lactate Transporter Defect 60
Lactate Transporter Defect, Myopathy Due to 58
Symptomatic Deficiency in Lactate Transport 76
Sdlt 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
erythrocyte lactate transporter defect:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

OMIM 58 245340
KEGG 38 H01248
ICD10 34 G73.6
ICD10 via Orphanet 35 G72.8
UMLS via Orphanet 75 C1855577
Orphanet 60 ORPHA171690
MedGen 43 C1855577
SNOMED-CT via HPO 70 263681008
UMLS 74 C1855577

Summaries for Erythrocyte Lactate Transporter Defect

UniProtKB/Swiss-Prot : 76 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, is also known as metabolic myopathy due to lactate transporter defect. An important gene associated with Erythrocyte Lactate Transporter Defect is SLC16A1 (Solute Carrier Family 16 Member 1). Related phenotypes are exercise-induced muscle fatigue and exercise-induced muscle cramps

Description from OMIM: 245340

Related Diseases for Erythrocyte Lactate Transporter Defect

Symptoms & Phenotypes for Erythrocyte Lactate Transporter Defect

Human phenotypes related to Erythrocyte Lactate Transporter Defect:

33
# Description HPO Frequency HPO Source Accession
1 exercise-induced muscle fatigue 33 HP:0009020
2 exercise-induced muscle cramps 33 HP:0003710
3 elevated serum creatine kinase 33 HP:0003236
4 exercise-induced muscle stiffness 33 HP:0008967

Symptoms via clinical synopsis from OMIM:

58
Muscle Soft Tissue:
exercise-induced muscle fatigue
normal muscle biopsy
exercise-induced muscle cramping
exercise-induced muscle stiffness
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

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 30 SLC16A1

Anatomical Context for Erythrocyte Lactate Transporter Defect

Publications for Erythrocyte Lactate Transporter Defect

Articles related to Erythrocyte Lactate Transporter Defect:

# Title Authors Year
1
Mutations in MCT1 cDNA in patients with symptomatic deficiency in lactate transport. ( 10590411 )
2000
2
Lactate transporter defect: a new disease of muscle. ( 3775384 )
1986

Variations for Erythrocyte Lactate Transporter Defect

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

76
# Symbol AA change Variation ID SNP ID
1 SLC16A1 p.Lys204Glu VAR_010434 rs80358222
2 SLC16A1 p.Gly472Arg VAR_010435 rs72552271

ClinVar genetic disease variations for Erythrocyte Lactate Transporter Defect:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC16A1 NM_003051.3(SLC16A1): c.1414G> A (p.Gly472Arg) single nucleotide variant Uncertain significance rs72552271 GRCh38 Chromosome 1, 112913980: 112913980
2 SLC16A1 NM_003051.3(SLC16A1): c.1414G> A (p.Gly472Arg) single nucleotide variant Uncertain significance rs72552271 GRCh37 Chromosome 1, 113456602: 113456602
3 SLC16A1 NM_003051.3(SLC16A1): c.610A> G (p.Lys204Glu) single nucleotide variant Pathogenic rs80358222 GRCh38 Chromosome 1, 112917796: 112917796
4 SLC16A1 NM_003051.3(SLC16A1): c.610A> G (p.Lys204Glu) single nucleotide variant Pathogenic rs80358222 GRCh37 Chromosome 1, 113460418: 113460418

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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