MECRCN
MCID: MTB008
MIFTS: 27

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 56 29 6
Metabolic Encephalomyopathic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration 56 73
Mecrcn 56 73
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome 58

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
metabolic encephalomyopathic crises often triggered by infection


HPO:

31
metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


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

OMIM : 56 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 brain, and related phenotypes are microcephaly and sensorineural hearing impairment

UniProtKB/Swiss-Prot : 73 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:

58 31 (show top 50) (show all 78)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 58 31 occasional (7.5%) Very rare (<4-1%) HP:0000252
2 sensorineural hearing impairment 58 31 occasional (7.5%) Very rare (<4-1%) HP:0000407
3 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
4 dystonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001332
5 spastic tetraplegia 31 occasional (7.5%) HP:0002510
6 hypertrophic cardiomyopathy 31 occasional (7.5%) HP:0001639
7 premature pubarche 31 occasional (7.5%) HP:0012411
8 spastic diplegia 31 occasional (7.5%) HP:0001264
9 premature thelarche 31 occasional (7.5%) HP:0010314
10 seizures 58 31 very rare (1%) Frequent (79-30%) HP:0001250
11 global developmental delay 58 31 very rare (1%) Very frequent (99-80%) HP:0001263
12 hypoglycemia 58 31 very rare (1%) Frequent (79-30%) HP:0001943
13 increased serum lactate 58 31 very rare (1%) Very frequent (99-80%) HP:0002151
14 hyperammonemia 58 31 very rare (1%) Frequent (79-30%) HP:0001987
15 ventricular tachycardia 31 very rare (1%) HP:0004756
16 prolonged qtc interval 31 very rare (1%) HP:0005184
17 torsade de pointes 31 very rare (1%) HP:0001664
18 intellectual disability 58 31 Very frequent (99-80%) HP:0001249
19 clonus 58 31 Occasional (29-5%) HP:0002169
20 ataxia 58 31 Frequent (79-30%) HP:0001251
21 elevated hepatic transaminase 58 31 Frequent (79-30%) HP:0002910
22 lactic acidosis 58 31 Frequent (79-30%) HP:0003128
23 acute rhabdomyolysis 58 31 Frequent (79-30%) HP:0008942
24 ketonuria 58 31 Very frequent (99-80%) HP:0002919
25 elevated plasma acylcarnitine levels 58 31 Occasional (29-5%) HP:0045045
26 hyperreflexia 58 Occasional (29-5%)
27 nystagmus 58 Occasional (29-5%)
28 dysarthria 31 HP:0001260
29 gait disturbance 31 HP:0001288
30 dysphagia 58 Occasional (29-5%)
31 hypothyroidism 31 HP:0000821
32 muscle weakness 31 HP:0001324
33 developmental regression 58 Frequent (79-30%)
34 delayed speech and language development 58 Frequent (79-30%)
35 hypertonia 58 Occasional (29-5%)
36 feeding difficulties in infancy 58 Frequent (79-30%)
37 elevated serum creatine phosphokinase 58 Very frequent (99-80%)
38 arrhythmia 58 Frequent (79-30%)
39 generalized hypotonia 31 HP:0001290
40 generalized myoclonic seizures 58 Occasional (29-5%)
41 severe global developmental delay 58 Occasional (29-5%)
42 absent speech 31 HP:0001344
43 prolonged qt interval 58 Frequent (79-30%)
44 gait ataxia 31 HP:0002066
45 babinski sign 58 Occasional (29-5%)
46 emg: myopathic abnormalities 58 Very frequent (99-80%)
47 generalized tonic-clonic seizures 58 Occasional (29-5%)
48 focal impaired awareness seizure 58 Occasional (29-5%)
49 generalized tonic seizures 58 Occasional (29-5%)
50 neurodegeneration 31 HP:0002180

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
clonus
global developmental delay
hypotonia
mental retardation
more
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
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
Head And Neck Head:
microcephaly (in some patients)

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

Chest Breasts:
premature thelarche (rare)

Endocrine Features:
hypothyroidism
elevated tsh
premature pubarche (rare)

Head And Neck Mouth:
drooling
oropharyngeal dysphagia

Head And Neck Face:
myopathic facies

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

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

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

40
Skeletal Muscle, Brain

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
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. 56 6
26805781 2016
2
Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy. 56 6
26805782 2016
3
TANGO2-Related Metabolic Encephalopathy and Arrhythmias 6
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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TANGO2 NM_152906.5(TANGO2):c.57-1743_*10769deldeletion Pathogenic 224770 22:20029135-20062954 22:20041612-20075431
2 TANGO2 NM_152906.5(TANGO2):c.146-3605_451+2245deldeletion Pathogenic 224772 22:20048857-20058261
3 TANGO2 NM_152906.7(TANGO2):c.4del (p.Cys2fs)deletion Pathogenic 224773 rs869320693 22:20024325-20024325 22:20036802-20036802
4 TANGO2 NM_152906.7(TANGO2):c.418C>T (p.Arg140Ter)SNV Pathogenic 224774 rs764883927 22:20043503-20043503 22:20055980-20055980
5 TANGO2 NM_152906.7(TANGO2):c.94C>T (p.Arg32Ter)SNV Pathogenic 378700 rs199801224 22:20030915-20030915 22:20043392-20043392
6 TANGO2 NM_152906.7(TANGO2):c.256C>T (p.Arg86Ter)SNV Pathogenic 617515 rs1162037663 22:20040098-20040098 22:20052575-20052575
7 TANGO2 NM_152906.7(TANGO2):c.460G>A (p.Gly154Arg)SNV Pathogenic 208823 rs752298579 22:20049061-20049061 22:20061538-20061538
8 TANGO2 NM_152906.7(TANGO2):c.605+1G>ASNV Pathogenic/Likely pathogenic 208824 rs372949028 22:20049207-20049207 22:20061684-20061684
9 TANGO2 NM_152906.7(TANGO2):c.95G>A (p.Arg32Gln)SNV Likely pathogenic 803644 22:20030916-20030916 22:20043393-20043393

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

73
# 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...

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