MECRCN
MCID: MTB008
MIFTS: 24

Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration (MECRCN)

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

Aliases & Classifications for Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac...

MalaCards integrated aliases for Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration:

Name: Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration 57 29 6
Metabolic Encephalomyopathic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration 57 74
Mecrcn 57 74
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome 59

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
metabolic encephalomyopathic crises often triggered by infection


HPO:

32
metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 616878
Orphanet 59 ORPHA480864

Summaries for Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac...

OMIM : 57 Recurrent metabolic crises with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MECRCN) is an autosomal recessive disorder characterized by episodic metabolic degeneration affecting skeletal muscle, cardiac muscle, and the nervous system. Affected individuals usually present in childhood with acute encephalomyopathic features, including rhabdomyolysis, hypotonia, and neurologic regression, although most patients have delayed psychomotor development before the acute onset. The overall disease course is characterized by progressive neurodegeneration with epilepsy, cognitive impairment, pyramidal and cerebellar signs, and loss of expressive language. Cardiac involvement with severe arrhythmias is a consistent and potentially life-threatening manifestation (summary by Lalani et al., 2016 and Kremer et al., 2016). (616878)

MalaCards based summary : Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration, also known as metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, is related to tango2-related metabolic encephalopathy and arrhythmias. An important gene associated with Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration is TANGO2 (Transport And Golgi Organization 2 Homolog). Affiliated tissues include skeletal muscle, and related phenotypes are microcephaly and sensorineural hearing impairment

UniProtKB/Swiss-Prot : 74 Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration: An autosomal recessive disorder characterized by metabolic encephalomyopathic crises, hypoglycemia, hyperammonemia, episodic rhabdomyolysis, susceptibility to life-threatening cardiac tachyarrhythmias, developmental delay, mental retardation, and mild diffuse cerebral atrophy.

Related Diseases for Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac...

Diseases related to Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 tango2-related metabolic encephalopathy and arrhythmias 12.0

Symptoms & Phenotypes for Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac...

Human phenotypes related to Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration:

32 (show all 44)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 occasional (7.5%) HP:0000252
2 sensorineural hearing impairment 32 occasional (7.5%) HP:0000407
3 optic atrophy 32 occasional (7.5%) HP:0000648
4 spastic tetraplegia 32 occasional (7.5%) HP:0002510
5 hypertrophic cardiomyopathy 32 occasional (7.5%) HP:0001639
6 dystonia 32 occasional (7.5%) HP:0001332
7 spastic diplegia 32 occasional (7.5%) HP:0001264
8 premature pubarche 32 occasional (7.5%) HP:0012411
9 premature thelarche 32 occasional (7.5%) HP:0010314
10 seizures 32 very rare (1%) HP:0001250
11 global developmental delay 32 very rare (1%) HP:0001263
12 hypoglycemia 32 very rare (1%) HP:0001943
13 increased serum lactate 32 very rare (1%) HP:0002151
14 hyperammonemia 32 very rare (1%) HP:0001987
15 ventricular tachycardia 32 very rare (1%) HP:0004756
16 prolonged qtc interval 32 very rare (1%) HP:0005184
17 torsade de pointes 32 very rare (1%) HP:0001664
18 hypothyroidism 32 HP:0000821
19 intellectual disability 32 HP:0001249
20 ataxia 32 HP:0001251
21 dysarthria 32 HP:0001260
22 gait disturbance 32 HP:0001288
23 muscle weakness 32 HP:0001324
24 clonus 32 HP:0002169
25 generalized hypotonia 32 HP:0001290
26 absent speech 32 HP:0001344
27 elevated hepatic transaminase 32 HP:0002910
28 gait ataxia 32 HP:0002066
29 lactic acidosis 32 HP:0003128
30 neurodegeneration 32 HP:0002180
31 metabolic acidosis 32 HP:0001942
32 myopathic facies 32 HP:0002058
33 poor coordination 32 HP:0002370
34 cardiac arrest 32 HP:0001695
35 cerebral atrophy 32 HP:0002059
36 drooling 32 HP:0002307
37 hyperactive deep tendon reflexes 32 HP:0006801
38 myoglobinuria 32 HP:0002913
39 acute rhabdomyolysis 32 HP:0008942
40 ketonuria 32 HP:0002919
41 oral-pharyngeal dysphagia 32 HP:0200136
42 ventricular fibrillation 32 HP:0001663
43 elevated plasma acylcarnitine levels 32 HP:0045045
44 elevated serum creatine kinase 32 HP:0003236

Symptoms via clinical synopsis from OMIM:

57
Endocrine Features:
hypothyroidism
elevated tsh
premature pubarche (rare)

Muscle Soft Tissue:
muscle weakness
rhabdomyolysis, episodic
normal respiratory chain studies seen on muscle biopsy
normal histopathology seen on muscle biopsy (in some patients)
nonspecific myopathic changes seen on biopsy (in some patients)
more
Head And Neck Face:
myopathic facies

Head And Neck Mouth:
drooling
oropharyngeal dysphagia

Head And Neck Head:
microcephaly (in some patients)

Head And Neck Ears:
hearing loss, sensorineural (in some patients)

Chest Breasts:
premature thelarche (rare)

Neurologic Central Nervous System:
seizures
clonus
global developmental delay
hypotonia
mental retardation
more
Metabolic Features:
metabolic acidosis
lactic acidemia
hypoglycemia, intermittent severe
excretion of dicarboxylic acids
normalization of metabolic parameters in between crises

Cardiovascular Heart:
cardiac arrest
ventricular tachycardia
ventricular fibrillation
torsade de pointes
cardiomyopathy, hypertrophic (in some patients)
more
Laboratory Abnormalities:
myoglobinuria
ketonuria
elevated serum transaminases
hypoglycemia, intermittent severe
elevated serum creatine phosphokinase (cpk) levels
more
Skeletal Skull:
microcephaly (in some patients)

Head And Neck Eyes:
optic atrophy (rare)

Clinical features from OMIM:

616878

Drugs & Therapeutics for Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac...

Search Clinical Trials , NIH Clinical Center for Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration

Genetic Tests for Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac...

Genetic tests related to Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration:

# Genetic test Affiliating Genes
1 Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration 29 TANGO2

Anatomical Context for Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac...

MalaCards organs/tissues related to Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration:

41
Skeletal Muscle

Publications for Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac...

Articles related to Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration:

# Title Authors PMID Year
1
Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy. 8 71
26805782 2016
2
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. 8 71
26805781 2016
3
TANGO2-Related Metabolic Encephalopathy and Arrhythmias 71
29369572 2018

Variations for Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac...

ClinVar genetic disease variations for Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TANGO2 NM_001283106.2(TANGO2): c.460G> A (p.Gly154Arg) single nucleotide variant Pathogenic rs752298579 22:20049061-20049061 22:20061538-20061538
2 TANGO2 NM_001283106.2(TANGO2): c.605+1G> A single nucleotide variant Pathogenic rs372949028 22:20049207-20049207 22:20061684-20061684
3 TANGO2 NM_152906.5(TANGO2): c.57-1743_*10769del deletion Pathogenic 22:20029135-20062954 22:20041612-20075431
4 TANGO2 NM_152906.5(TANGO2): c.146-3605_451+2245del deletion Pathogenic
5 TANGO2 NM_001283106.2(TANGO2): c.4del (p.Cys2fs) deletion Pathogenic rs869320693 22:20024325-20024325 22:20036802-20036802
6 TANGO2 NM_001283106.2(TANGO2): c.418C> T (p.Arg140Ter) single nucleotide variant Pathogenic rs764883927 22:20043503-20043503 22:20055980-20055980
7 TANGO2 NM_001283106.2(TANGO2): c.256C> T (p.Arg86Ter) single nucleotide variant Pathogenic 22:20040098-20040098 22:20052575-20052575

UniProtKB/Swiss-Prot genetic disease variations for Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration:

74
# Symbol AA change Variation ID SNP ID
1 TANGO2 p.Gly154Arg VAR_076912 rs752298579

Expression for Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac...

Search GEO for disease gene expression data for Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration.

Pathways for Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac...

GO Terms for Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac...

Sources for Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac...

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69 SNOMED-CT via HPO
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73 UMLS via Orphanet
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