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 57 59 75 37 29 13 6 40 73
Metabolic Myopathy Due to Lactate Transporter Defect 59
Lactate Transporter Defect, Myopathy Due to 57
Symptomatic Deficiency in Lactate Transport 75
Sdlt 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
erythrocyte lactate transporter defect:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 245340
Orphanet 59 ORPHA171690
ICD10 via Orphanet 34 G72.8
UMLS via Orphanet 74 C1855577
MedGen 42 C1855577
KEGG 37 H01248
ICD10 33 G73.6
SNOMED-CT via HPO 69 263681008
UMLS 73 C1855577

Summaries for Erythrocyte Lactate Transporter Defect

UniProtKB/Swiss-Prot : 75 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 elevated serum creatine phosphokinase and exercise-induced muscle fatigue

Description from OMIM: 245340

Related Diseases for Erythrocyte Lactate Transporter Defect

Symptoms & Phenotypes for Erythrocyte Lactate Transporter Defect

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Erythrocyte Lactate Transporter Defect:

32
# Description HPO Frequency HPO Source Accession
1 elevated serum creatine phosphokinase 32 HP:0003236
2 exercise-induced muscle fatigue 32 HP:0009020
3 exercise-induced muscle stiffness 32 HP:0008967
4 exercise-induced muscle cramps 32 HP:0003710

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:

# Title Authors Year
1
Mutations in MCT1 cDNA in patients with symptomatic deficiency in lactate transport. ( 10590411 )
2000

Variations for Erythrocyte Lactate Transporter Defect

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

75
# 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.610A> G (p.Lys204Glu) single nucleotide variant Pathogenic rs80358222 GRCh37 Chromosome 1, 113460418: 113460418
2 SLC16A1 NM_003051.3(SLC16A1): c.610A> G (p.Lys204Glu) single nucleotide variant Pathogenic rs80358222 GRCh38 Chromosome 1, 112917796: 112917796
3 SLC16A1 NM_003051.3(SLC16A1): c.1414G> A (p.Gly472Arg) single nucleotide variant Uncertain significance rs72552271 GRCh37 Chromosome 1, 113456602: 113456602
4 SLC16A1 NM_003051.3(SLC16A1): c.1414G> A (p.Gly472Arg) single nucleotide variant Uncertain significance rs72552271 GRCh38 Chromosome 1, 112913980: 112913980

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 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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