PEBAS
MCID: ENC059
MIFTS: 21

Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Spasticity (PEBAS)

Categories: Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and...

MalaCards integrated aliases for Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Spasticity:

Name: Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Spasticity 58 76 6 41
Pebas 58 76
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome 60

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset at birth
three patients from 2 unrelated families have been reported (last curated september 2017)


HPO:

33
encephalopathy, progressive, early-onset, with brain atrophy and spasticity:
Onset and clinical course congenital onset progressive


Classifications:



Summaries for Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and...

UniProtKB/Swiss-Prot : 76 Encephalopathy, progressive, early-onset, with brain atrophy and spasticity: An autosomal recessive, progressive encephalopathy characterized by central nervous system atrophy and dysfunction, spasticity, microcephaly, global developmental delay, and hearing loss.

MalaCards based summary : Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Spasticity, also known as pebas, is related to choriocarcinoma. An important gene associated with Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Spasticity is TRAPPC12 (Trafficking Protein Particle Complex 12). Affiliated tissues include brain, pons and cerebellum, and related phenotypes are seizures and agenesis of corpus callosum

Description from OMIM: 617669

Related Diseases for Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and...

Diseases related to Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Spasticity via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 1, show less)
# Related Disease Score Top Affiliating Genes
1 choriocarcinoma 10.2

Symptoms & Phenotypes for Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and...

Human phenotypes related to Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Spasticity:

33 (showing 16, show less)
# Description HPO Frequency HPO Source Accession
1 seizures 33 very rare (1%) HP:0001250
2 agenesis of corpus callosum 33 HP:0001274
3 spasticity 33 HP:0001257
4 dysphagia 33 HP:0002015
5 developmental regression 33 HP:0002376
6 global developmental delay 33 HP:0001263
7 optic atrophy 33 HP:0000648
8 feeding difficulties 33 HP:0011968
9 myoclonus 33 HP:0001336
10 dystonia 33 HP:0001332
11 ventriculomegaly 33 HP:0002119
12 cerebral cortical atrophy 33 HP:0002120
13 hypsarrhythmia 33 HP:0002521
14 encephalopathy 33 HP:0001298
15 cerebral visual impairment 33 HP:0100704
16 hypoplasia of the pons 33 HP:0012110

Symptoms via clinical synopsis from OMIM:

58
Abdomen Gastrointestinal:
dysphagia
poor feeding
reflux

Head And Neck Eyes:
optic atrophy
cortical visual impairment
loss of tracking

Head And Neck Ears:
hearing loss

Head And Neck Head:
microcephaly (-3 to -4 sd)

Skeletal Spine:
scoliosis

Neurologic Central Nervous System:
myoclonus
dystonia
hypsarrhythmia
encephalopathy
enlarged ventricles
more
Muscle Soft Tissue:
truncal hypotonia

Clinical features from OMIM:

617669

Drugs & Therapeutics for Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and...

Search Clinical Trials , NIH Clinical Center for Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Spasticity

Genetic Tests for Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and...

Anatomical Context for Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and...

MalaCards organs/tissues related to Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Spasticity:

42
Brain, Pons, Cerebellum

Publications for Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and...

Articles related to Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Spasticity:

(showing 1, show less)
# Title Authors Year
1
Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction. ( 28777934 )
2017

Variations for Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and...

ClinVar genetic disease variations for Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Spasticity:

6 (showing 6, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 TRAPPC12 NM_016030.5(TRAPPC12): c.360dup (p.Glu121Argfs) duplication Pathogenic rs1135401749 GRCh38 Chromosome 2, 3387983: 3387983
2 TRAPPC12 NM_016030.5(TRAPPC12): c.360dup (p.Glu121Argfs) duplication Pathogenic rs1135401749 GRCh37 Chromosome 2, 3391754: 3391754
3 TRAPPC12 NM_016030.5(TRAPPC12): c.1880C> T (p.Ala627Val) single nucleotide variant Pathogenic rs768950892 GRCh38 Chromosome 2, 3478848: 3478848
4 TRAPPC12 NM_016030.5(TRAPPC12): c.1880C> T (p.Ala627Val) single nucleotide variant Pathogenic rs768950892 GRCh37 Chromosome 2, 3482619: 3482619
5 TRAPPC12 NM_016030.5(TRAPPC12): c.145delG (p.Glu49Argfs) deletion Pathogenic rs1553309983 GRCh38 Chromosome 2, 3387768: 3387768
6 TRAPPC12 NM_016030.5(TRAPPC12): c.145delG (p.Glu49Argfs) deletion Pathogenic rs1553309983 GRCh37 Chromosome 2, 3391539: 3391539

Expression for Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and...

Search GEO for disease gene expression data for Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Spasticity.

Pathways for Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and...

GO Terms for Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and...

Sources for Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and...

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
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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
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