MECREN
MCID: MTB009
MIFTS: 12

Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression (MECREN)

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases

Aliases & Classifications for Metabolic Crises, Recurrent, with Variable Encephalomyopathic...

MalaCards integrated aliases for Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression:

Name: Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression 58 6
Mecren 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
highly variable phenotype, even within families
onset in the first decade
acute metabolic decompensation associated with fever, infection, or stress


Classifications:



External Ids:

OMIM 58 618416

Summaries for Metabolic Crises, Recurrent, with Variable Encephalomyopathic...

OMIM : 58 Recurrent metabolic crises with variable encephalomyopathic features and neurologic regression (MECREN) is an autosomal recessive metabolic disorder with a highly variable phenotype. Most affected individuals present in the first years of life with episodic lactic acidosis associated with illness or stress, resulting in transient or permanent neurologic dysfunction. Some patients may recover, whereas others show subsequent variable developmental regression of motor and cognitive skills. Other features may include dystonia, hypotonia with inability to sit or walk, seizures, and abnormal signals in the basal ganglia. There is significant phenotypic heterogeneity, even among patients with the same mutation (summary by Almannai et al., 2018). (618416)

MalaCards based summary : Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression, is also known as mecren. An important gene associated with Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression is SLC25A42 (Solute Carrier Family 25 Member 42). Affiliated tissues include brain.

Related Diseases for Metabolic Crises, Recurrent, with Variable Encephalomyopathic...

Symptoms & Phenotypes for Metabolic Crises, Recurrent, with Variable Encephalomyopathic...

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
ataxia
dystonia
choreoathetosis
seizures (in some patients)
delayed walking
more
Metabolic Features:
lactic acidosis

Head And Neck Face:
facial muscle weakness

Laboratory Abnormalities:
increased serum lactate
increased serum creatine kinase
hyperammonemia (in some patients)

Muscle Soft Tissue:
hypotonia
rhabdomyolysis, episodic (rare)

Cardiovascular Heart:
poor left ventricular function (in some patients)

Clinical features from OMIM:

618416

Drugs & Therapeutics for Metabolic Crises, Recurrent, with Variable Encephalomyopathic...

Search Clinical Trials , NIH Clinical Center for Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression

Genetic Tests for Metabolic Crises, Recurrent, with Variable Encephalomyopathic...

Anatomical Context for Metabolic Crises, Recurrent, with Variable Encephalomyopathic...

MalaCards organs/tissues related to Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression:

42
Brain

Publications for Metabolic Crises, Recurrent, with Variable Encephalomyopathic...

Variations for Metabolic Crises, Recurrent, with Variable Encephalomyopathic...

ClinVar genetic disease variations for Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC25A42 NM_178526.4(SLC25A42): c.871A> G (p.Asn291Asp) single nucleotide variant Likely pathogenic rs864321624 GRCh37 Chromosome 19, 19221599: 19221599
2 SLC25A42 NM_178526.4(SLC25A42): c.871A> G (p.Asn291Asp) single nucleotide variant Likely pathogenic rs864321624 GRCh38 Chromosome 19, 19110790: 19110790
3 SLC25A42 NM_001321544.1(SLC25A42): c.380+2T> A single nucleotide variant Pathogenic GRCh37 Chromosome 19, 19216538: 19216538
4 SLC25A42 NM_001321544.1(SLC25A42): c.380+2T> A single nucleotide variant Pathogenic GRCh38 Chromosome 19, 19105729: 19105729

Expression for Metabolic Crises, Recurrent, with Variable Encephalomyopathic...

Search GEO for disease gene expression data for Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression.

Pathways for Metabolic Crises, Recurrent, with Variable Encephalomyopathic...

GO Terms for Metabolic Crises, Recurrent, with Variable Encephalomyopathic...

Sources for Metabolic Crises, Recurrent, with Variable Encephalomyopathic...

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10 dbSNP
11 DGIdb
17 EFO
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33 HPO
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35 ICD10 via Orphanet
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63 PubMed
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
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75 UMLS via Orphanet
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