PEERB
MCID: ENC067
MIFTS: 9

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 6
Peerb 58

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

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

MalaCards based summary : Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis, is also known as peerb. An important gene associated with Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis is TRAPPC2L (Trafficking Protein Particle Complex 2 Like). Affiliated tissues include brain.

Description from OMIM: 618331

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

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

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

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

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

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

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TRAPPC2L NM_016209.4(TRAPPC2L): c.109G> T (p.Asp37Tyr) single nucleotide variant Pathogenic GRCh38 Chromosome 16, 88858694: 88858694
2 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...

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

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

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....