MECRCN
MCID: MTB008
MIFTS: 22

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 58 30 6
Metabolic Encephalomyopathic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration 58 76
Mecrcn 58 76
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome 60

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
metabolic encephalomyopathic crises often triggered by infection


HPO:

33
metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


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

OMIM : 58 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 : 76 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 11.9

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

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

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

Symptoms via clinical synopsis from OMIM:

58
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 30 TANGO2

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

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

42
Skeletal Muscle

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

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

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

76
# Symbol AA change Variation ID SNP ID
1 TANGO2 p.Gly154Arg VAR_076912 rs752298579

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

6 (show all 13)
# Gene Variation Type Significance SNP ID Assembly Location
1 TANGO2 NM_152906.6(TANGO2): c.460G> A (p.Gly154Arg) single nucleotide variant Pathogenic rs752298579 GRCh37 Chromosome 22, 20049061: 20049061
2 TANGO2 NM_152906.6(TANGO2): c.460G> A (p.Gly154Arg) single nucleotide variant Pathogenic rs752298579 GRCh38 Chromosome 22, 20061538: 20061538
3 TANGO2 NM_152906.6(TANGO2): c.605+1G> A single nucleotide variant Pathogenic rs372949028 GRCh37 Chromosome 22, 20049207: 20049207
4 TANGO2 NM_152906.6(TANGO2): c.605+1G> A single nucleotide variant Pathogenic rs372949028 GRCh38 Chromosome 22, 20061684: 20061684
5 TANGO2 NM_152906.5(TANGO2): c.57-1743_*10769del deletion Pathogenic GRCh38 Chromosome 22, 20041612: 20075431
6 TANGO2 NM_152906.5(TANGO2): c.57-1743_*10769del deletion Pathogenic GRCh37 Chromosome 22, 20029135: 20062954
7 TANGO2 NM_152906.5(TANGO2): c.146-3605_451+2245del deletion Pathogenic GRCh38 Chromosome 22, 20048857: 20058261
8 TANGO2 NM_152906.6(TANGO2): c.4delT (p.Cys2Alafs) deletion Pathogenic rs869320693 GRCh37 Chromosome 22, 20024325: 20024325
9 TANGO2 NM_152906.6(TANGO2): c.4delT (p.Cys2Alafs) deletion Pathogenic rs869320693 GRCh38 Chromosome 22, 20036802: 20036802
10 TANGO2 NM_152906.6(TANGO2): c.418C> T (p.Arg140Ter) single nucleotide variant Pathogenic rs764883927 GRCh37 Chromosome 22, 20043503: 20043503
11 TANGO2 NM_152906.6(TANGO2): c.418C> T (p.Arg140Ter) single nucleotide variant Pathogenic rs764883927 GRCh38 Chromosome 22, 20055980: 20055980
12 TANGO2 NM_152906.6(TANGO2): c.256C> T (p.Arg86Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 22, 20052575: 20052575
13 TANGO2 NM_152906.6(TANGO2): c.256C> T (p.Arg86Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 22, 20040098: 20040098

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...

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
Content
Loading form....