PEERB
MCID: ENC067
MIFTS: 35

Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis (PEERB)

Categories: Genetic diseases

Aliases & Classifications for Encephalopathy, Progressive, Early-Onset, with Episodic...

MalaCards integrated aliases for Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis:

Name: Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis 58 76 6
Rhabdomyolysis 45 17
Peerb 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
progressive disorder
two unrelated patients have been reported (last curated february 2019)
episodic exacerbation associated with illness


Classifications:



External Ids:

OMIM 58 618331
MedGen 43 CN258216

Summaries for Encephalopathy, Progressive, Early-Onset, with Episodic...

UniProtKB/Swiss-Prot : 76 Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis: An autosomal recessive disease characterized by progressive encephalopathy exacerbated by febrile illness and associated with severe neurodevelopmental delay, episodes of rhabdomyolysis, developmental regression, epilepsy and tetraplegia.

MalaCards based summary : Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis, also known as rhabdomyolysis, is related to acyl-coa dehydrogenase, very long-chain, deficiency of and phosphoglycerate kinase deficiency. An important gene associated with Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis is TRAPPC2L (Trafficking Protein Particle Complex 2 Like), and among its related pathways/superpathways are Metabolism and AMPK Enzyme Complex Pathway. Affiliated tissues include prostate, thyroid and myeloid, and related phenotypes are Decreased viability and Decreased viability

Description from OMIM: 618331

Related Diseases for Encephalopathy, Progressive, Early-Onset, with Episodic...

Diseases related to Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 479)
# Related Disease Score Top Affiliating Genes
1 acyl-coa dehydrogenase, very long-chain, deficiency of 32.4 ACADVL CPT2
2 phosphoglycerate kinase deficiency 31.9 PFKM PYGM
3 malignant hyperthermia 31.7 CPT2 MB PIK3C2A RYR1 SCN4A
4 neuroleptic malignant syndrome 31.5 CHKB MB PIK3C2A RYR1
5 myoglobinuria, recurrent 31.4 ACADVL CPT2 PYGM
6 myoglobinuria 30.8 ACADVL CPT2 MB PFKM PIK3C2A PYGM
7 muscle disorders 30.6 PIK3C2A RYR1
8 compartment syndrome 30.5 CHKB MB PIK3C2A
9 glycogen storage disease v 30.4 AMPD1 CHKB CPT2 MB PFKM PYGM
10 carnitine palmitoyltransferase ii deficiency, infantile 30.2 ACADVL CPT2
11 malignant hyperthermia susceptibility 30.1 RYR1 SCN4A
12 myositis 30.1 CHKB MB PIK3C2A
13 disseminated intravascular coagulation 30.0 MB PIK3C2A
14 plexopathy 30.0 MB PIK3C2A
15 gas gangrene 29.9 MB PIK3C2A
16 multiple acyl-coa dehydrogenase deficiency 29.7 ACADVL CPT2
17 pericardial effusion 29.6 ACADVL CHKB PIK3C2A
18 acute kidney failure 29.6 MB PIK3C2A
19 virus associated hemophagocytic syndrome 29.6 MB PIK3C2A
20 hypokalemic periodic paralysis, type 1 29.4 RYR1 SCN4A
21 acute myocardial infarction 29.3 CHKB MB PIK3C2A
22 coronary artery anomaly 29.0 HMGCR MB PIK3C2A
23 myocardial infarction 29.0 CHKB HMGCR MB PIK3C2A
24 metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 12.5
25 tango2-related metabolic encephalopathy and arrhythmias 12.0
26 myoglobinuria, acute recurrent, autosomal recessive 11.8
27 mitochondrial trifunctional protein deficiency 11.6
28 hypophosphatemia 11.3
29 myopathy due to myoadenylate deaminase deficiency 11.3
30 marinesco-sjogren syndrome 11.3
31 congenital cataracts, facial dysmorphism, and neuropathy 11.3
32 glycogen storage disease xii 11.2
33 malignant hyperthermia 1 11.1
34 central core disease of muscle 10.9
35 malignant hyperthermia 2 10.9
36 malignant hyperthermia 3 10.9
37 carnitine palmitoyltransferase ii deficiency, myopathic, stress-induced 10.9
38 myopathy with lactic acidosis, hereditary 10.9
39 phosphoglycerate kinase 1 deficiency 10.9
40 malignant hyperthermia 4 10.9
41 malignant hyperthermia 5 10.9
42 malignant hyperthermia 6 10.9
43 congenital disorder of glycosylation, type it 10.9
44 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 4 10.9
45 myopathy - thyrotoxic 10.9
46 influenza 10.4
47 myopathy 10.4
48 hypothyroidism 10.4
49 hypokalemia 10.3
50 carnitine deficiency, systemic primary 10.3 ACADVL CPT2

Graphical network of the top 20 diseases related to Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis:



Diseases related to Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis

Symptoms & Phenotypes for Encephalopathy, Progressive, Early-Onset, with Episodic...

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
developmental regression
tetraplegia
absent speech
inability to walk
more
Muscle Soft Tissue:
rhabdomyolysis, episodic

Laboratory Abnormalities:
increased serum creatine kinase, episodic

Head And Neck Head:
microcephaly, acquired

Head And Neck Eyes:
cortical visual impairment (1 patient)

Clinical features from OMIM:

618331

GenomeRNAi Phenotypes related to Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis according to GeneCards Suite gene sharing:

27 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10 PIK3C2A
2 Decreased viability GR00221-A-1 10 CHKB PFKM PIK3C2A
3 Decreased viability GR00221-A-2 10 CHKB CPT2 PFKM PIK3C2A
4 Decreased viability GR00221-A-3 10 CHKB PFKM
5 Decreased viability GR00221-A-4 10 CHKB CPT2 PIK3C2A
6 Decreased viability GR00240-S-1 10 PIK3C2A
7 Decreased viability GR00301-A 10 CHKB
8 Decreased viability GR00342-S-1 10 PIK3C2A
9 Decreased viability GR00342-S-2 10 PIK3C2A
10 Decreased viability GR00342-S-3 10 PIK3C2A
11 Decreased viability GR00402-S-2 10 CHKB CPT2 PFKM PIK3C2A
12 Reduced mammosphere formation GR00396-S 9.02 CHKB CPT2 HMGCR PIK3C2A PYGM

MGI Mouse Phenotypes related to Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.9 ACADVL AMPD1 CHKB CPT2 HMGCR MB
2 behavior/neurological MP:0005386 9.8 ACADVL CHKB PFKM PYGM RYR1 SCN4A
3 cardiovascular system MP:0005385 9.73 ACADVL CPT2 MB PFKM PIK3C2A RYR1
4 mortality/aging MP:0010768 9.61 ACADVL AMPD1 CPT2 HMGCR MB PFKM
5 muscle MP:0005369 9.23 ACADVL AMPD1 CHKB MB PFKM PYGM

Drugs & Therapeutics for Encephalopathy, Progressive, Early-Onset, with Episodic...

Search Clinical Trials , NIH Clinical Center for Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis

Cochrane evidence based reviews: rhabdomyolysis

Genetic Tests for Encephalopathy, Progressive, Early-Onset, with Episodic...

Anatomical Context for Encephalopathy, Progressive, Early-Onset, with Episodic...

MalaCards organs/tissues related to Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis:

42
Prostate, Thyroid, Myeloid, Brain, Kidney, Liver, Heart

Publications for Encephalopathy, Progressive, Early-Onset, with Episodic...

Articles related to Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis:

# Title Authors Year
1
Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts. ( 30120216 )
2018

Variations for Encephalopathy, Progressive, Early-Onset, with Episodic...

ClinVar genetic disease variations for Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis:

6 (show all 28)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN4A NM_000334.4(SCN4A): c.4343G> A (p.Arg1448His) single nucleotide variant Pathogenic rs121908545 GRCh37 Chromosome 17, 62019299: 62019299
2 SCN4A NM_000334.4(SCN4A): c.4343G> A (p.Arg1448His) single nucleotide variant Pathogenic rs121908545 GRCh38 Chromosome 17, 63941939: 63941939
3 CPT2 NM_000098.2(CPT2): c.338C> T (p.Ser113Leu) single nucleotide variant Pathogenic rs74315294 GRCh37 Chromosome 1, 53668099: 53668099
4 CPT2 NM_000098.2(CPT2): c.338C> T (p.Ser113Leu) single nucleotide variant Pathogenic rs74315294 GRCh38 Chromosome 1, 53202427: 53202427
5 AHCY NM_000687.3(AHCY): c.428A> G (p.Tyr143Cys) single nucleotide variant Likely pathogenic rs121918608 GRCh37 Chromosome 20, 32880181: 32880181
6 AHCY NM_000687.3(AHCY): c.428A> G (p.Tyr143Cys) single nucleotide variant Likely pathogenic rs121918608 GRCh38 Chromosome 20, 34292375: 34292375
7 PFKM NM_001166686.1(PFKM): c.450+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs202143236 GRCh37 Chromosome 12, 48525177: 48525177
8 PFKM NM_001166686.1(PFKM): c.450+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs202143236 GRCh38 Chromosome 12, 48131394: 48131394
9 ACADVL NM_000018.4(ACADVL): c.1376G> A (p.Arg459Gln) single nucleotide variant Pathogenic/Likely pathogenic rs751995154 GRCh37 Chromosome 17, 7127330: 7127330
10 ACADVL NM_000018.4(ACADVL): c.1376G> A (p.Arg459Gln) single nucleotide variant Pathogenic/Likely pathogenic rs751995154 GRCh38 Chromosome 17, 7224011: 7224011
11 MYH3 NM_002470.3(MYH3): c.875C> G (p.Ser292Cys) single nucleotide variant Uncertain significance rs139480342 GRCh37 Chromosome 17, 10550522: 10550522
12 MYH3 NM_002470.3(MYH3): c.875C> G (p.Ser292Cys) single nucleotide variant Uncertain significance rs139480342 GRCh38 Chromosome 17, 10647205: 10647205
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 AHCY NM_000687.3(AHCY): c.266C> T (p.Ala89Val) single nucleotide variant Uncertain significance rs755222515 GRCh38 Chromosome 20, 34294110: 34294110
16 AHCY NM_000687.3(AHCY): c.266C> T (p.Ala89Val) single nucleotide variant Uncertain significance rs755222515 GRCh37 Chromosome 20, 32881916: 32881916
17 CACNA1S NM_000069.2(CACNA1S): c.1678G> T (p.Ala560Ser) single nucleotide variant Likely pathogenic rs763794604 GRCh37 Chromosome 1, 201046197: 201046197
18 CACNA1S NM_000069.2(CACNA1S): c.1678G> T (p.Ala560Ser) single nucleotide variant Likely pathogenic rs763794604 GRCh38 Chromosome 1, 201077069: 201077069
19 PGAM2 NM_000290.3(PGAM2): c.637G> A (p.Gly213Arg) single nucleotide variant Likely pathogenic rs750422335 GRCh37 Chromosome 7, 44102488: 44102488
20 PGAM2 NM_000290.3(PGAM2): c.637G> A (p.Gly213Arg) single nucleotide variant Likely pathogenic rs750422335 GRCh38 Chromosome 7, 44062889: 44062889
21 RYR1 NM_000540.2(RYR1): c.179A> G (p.Asp60Gly) single nucleotide variant Likely pathogenic rs1555762532 GRCh38 Chromosome 19, 38442362: 38442362
22 RYR1 NM_000540.2(RYR1): c.179A> G (p.Asp60Gly) single nucleotide variant Likely pathogenic rs1555762532 GRCh37 Chromosome 19, 38933002: 38933002
23 HERC2 NM_004667.5(HERC2): c.5045A> G (p.Asn1682Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 15, 28474681: 28474681
24 HERC2 NM_004667.5(HERC2): c.5045A> G (p.Asn1682Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 15, 28229535: 28229535
25 RYR1 NM_000540.2(RYR1): c.1312G> C (p.Glu438Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 38943526: 38943526
26 RYR1 NM_000540.2(RYR1): c.1312G> C (p.Glu438Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 38452886: 38452886
27 TRAPPC2L NM_016209.4(TRAPPC2L): c.109G> T (p.Asp37Tyr) single nucleotide variant Pathogenic GRCh38 Chromosome 16, 88858694: 88858694
28 TRAPPC2L NM_016209.4(TRAPPC2L): c.109G> T (p.Asp37Tyr) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 88925102: 88925102

Expression for Encephalopathy, Progressive, Early-Onset, with Episodic...

Search GEO for disease gene expression data for Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis.

Pathways for Encephalopathy, Progressive, Early-Onset, with Episodic...

Pathways related to Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.4 ACADVL AMPD1 CHKB CPT2 HMGCR PFKM
2
Show member pathways
11.37 CPT2 HMGCR PFKM
3
Show member pathways
10.52 ACADVL CHKB CPT2

GO Terms for Encephalopathy, Progressive, Early-Onset, with Episodic...

Biological processes related to Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.26 ACADVL CHKB CPT2 HMGCR
2 fatty acid beta-oxidation GO:0006635 9.16 ACADVL CPT2
3 glycogen catabolic process GO:0005980 8.62 PFKM PYGM

Sources for Encephalopathy, Progressive, Early-Onset, with Episodic...

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