MCID: MTB007
MIFTS: 29

Metabolic Encephalomyopathic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration

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

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

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

Name: Metabolic Encephalomyopathic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration 57 75
Rhabdomyolysis 44 73
Mecrcn 57 75
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 encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


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

UniProtKB/Swiss-Prot : 75 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.

MalaCards based summary : Metabolic Encephalomyopathic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration, also known as rhabdomyolysis, is related to tango2-related metabolic encephalopathy and arrhythmias and myoglobinuria, acute recurrent, autosomal recessive, and has symptoms including muscle cramp, muscle rigidity and muscle spasticity. An important gene associated with Metabolic Encephalomyopathic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration is TANGO2 (Transport And Golgi Organization 2 Homolog). Related phenotypes are microcephaly and sensorineural hearing impairment

Description from OMIM: 616878

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

Graphical network of the top 20 diseases related to Metabolic Encephalomyopathic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration:



Diseases related to Metabolic Encephalomyopathic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration

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

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:
ketonuria
myoglobinuria
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

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

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

UMLS symptoms related to Metabolic Encephalomyopathic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration:


muscle cramp, muscle rigidity, muscle spasticity, spasm, muscle weakness, myalgia, generalized muscle weakness

MGI Mouse Phenotypes related to Metabolic Encephalomyopathic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.13 ACADVL PIK3C2A RYR1
2 cardiovascular system MP:0005385 8.92 ACADVL MB PIK3C2A RYR1

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

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

Cochrane evidence based reviews: rhabdomyolysis

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

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

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

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

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

75
# Symbol AA change Variation ID SNP ID
1 TANGO2 p.Gly154Arg VAR_076912 rs752298579

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

6
(show all 15)
# Gene Variation Type Significance SNP ID Assembly Location
1 ACADVL NM_000018.3(ACADVL): c.1376G> A (p.Arg459Gln) single nucleotide variant Pathogenic/Likely pathogenic rs751995154 GRCh37 Chromosome 17, 7127330: 7127330
2 ACADVL NM_000018.3(ACADVL): c.1376G> A (p.Arg459Gln) single nucleotide variant Pathogenic/Likely pathogenic rs751995154 GRCh38 Chromosome 17, 7224011: 7224011
3 TANGO2 NM_152906.6(TANGO2): c.460G> A (p.Gly154Arg) single nucleotide variant Pathogenic rs752298579 GRCh37 Chromosome 22, 20049061: 20049061
4 TANGO2 NM_152906.6(TANGO2): c.460G> A (p.Gly154Arg) single nucleotide variant Pathogenic rs752298579 GRCh38 Chromosome 22, 20061538: 20061538
5 TANGO2 NM_152906.6(TANGO2): c.605+1G> A single nucleotide variant Pathogenic rs372949028 GRCh37 Chromosome 22, 20049207: 20049207
6 TANGO2 NM_152906.6(TANGO2): c.605+1G> A single nucleotide variant Pathogenic rs372949028 GRCh38 Chromosome 22, 20061684: 20061684
7 TANGO2 NM_152906.5(TANGO2): c.57-1743_*10769del deletion Pathogenic GRCh38 Chromosome 22, 20041612: 20075431
8 TANGO2 NM_152906.5(TANGO2): c.146-3605_451+2245del deletion Pathogenic GRCh38 Chromosome 22, 20048857: 20058261
9 TANGO2 NM_001283106.2(TANGO2): c.4delT (p.Cys2Alafs) deletion Pathogenic rs869320693 GRCh37 Chromosome 22, 20024325: 20024325
10 TANGO2 NM_001283106.2(TANGO2): c.4delT (p.Cys2Alafs) deletion Pathogenic rs869320693 GRCh38 Chromosome 22, 20036802: 20036802
11 TANGO2 NM_001283106.2(TANGO2): c.418C> T (p.Arg140Ter) single nucleotide variant Pathogenic rs764883927 GRCh37 Chromosome 22, 20043503: 20043503
12 TANGO2 NM_001283106.2(TANGO2): c.418C> T (p.Arg140Ter) single nucleotide variant Pathogenic rs764883927 GRCh38 Chromosome 22, 20055980: 20055980
13 ACADVL NM_001270447.1(ACADVL): c.1427G> A (p.Arg476Gln) single nucleotide variant Likely pathogenic rs138058572 GRCh38 Chromosome 17, 7223993: 7223993
14 ACADVL NM_001270447.1(ACADVL): c.1427G> A (p.Arg476Gln) single nucleotide variant Likely pathogenic rs138058572 GRCh37 Chromosome 17, 7127312: 7127312
15 TANGO2 NC_000022.10: g.20029135_20062954del33820 deletion Pathogenic GRCh37 Chromosome 22, 20029135: 20062954

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

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

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

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

Biological processes related to Metabolic Encephalomyopathic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to hypoxia GO:0001666 8.62 MB RYR1

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

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