PEBAS
MCID: ENC059
MIFTS: 23

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 57 74 6 40
Pebas 57 74
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome 59

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
encephalopathy, progressive, early-onset, with brain atrophy and spasticity:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive congenital onset


Classifications:



External Ids:

OMIM 57 617669
MeSH 44 D001927
Orphanet 59 ORPHA500144

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

UniProtKB/Swiss-Prot : 74 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

More information 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 10.3

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

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

32 (showing 20, show less)
# Description HPO Frequency HPO Source Accession
1 seizures 32 very rare (1%) HP:0001250
2 agenesis of corpus callosum 32 HP:0001274
3 spasticity 32 HP:0001257
4 dysphagia 32 HP:0002015
5 developmental regression 32 HP:0002376
6 scoliosis 32 HP:0002650
7 hearing impairment 32 HP:0000365
8 global developmental delay 32 HP:0001263
9 microcephaly 32 HP:0000252
10 optic atrophy 32 HP:0000648
11 feeding difficulties 32 HP:0011968
12 myoclonus 32 HP:0001336
13 dystonia 32 HP:0001332
14 ventriculomegaly 32 HP:0002119
15 cerebral cortical atrophy 32 HP:0002120
16 hypsarrhythmia 32 HP:0002521
17 encephalopathy 32 HP:0001298
18 muscular hypotonia of the trunk 32 HP:0008936
19 cerebral visual impairment 32 HP:0100704
20 hypoplasia of the pons 32 HP:0012110

Symptoms via clinical synopsis from OMIM:

57
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:

41
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 14, show less)
# Title Authors PMID Year
1
Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction. 8 71
28777934 2017
2
Atlantic forests to the all Americas: Biogeographical history and divergence times of Neotropical Ficus (Moraceae). 38
29371027 2018
3
Parallel diversifications of Cremastosperma and Mosannona (Annonaceae), tropical rainforest trees tracking Neogene upheaval of South America. 38
29410860 2018
4
Dental remains of cebid platyrrhines from the earliest late Miocene of Western Amazonia, Peru: Macroevolutionary implications on the extant capuchin and marmoset lineages. 38
27430626 2016
5
A minute ostracod (Crustacea: Cytheromatidae) from the Miocene Solimões Formation (western Amazonia, Brazil): evidence for marine incursions? 38
27453692 2016
6
A dated phylogeny of the papilionoid legume genus Canavalia reveals recent diversification by a pantropical liana lineage. 38
26860339 2016
7
A New 13 Million Year Old Gavialoid Crocodylian from Proto-Amazonian Mega-Wetlands Reveals Parallel Evolutionary Trends in Skull Shape Linked to Longirostry. 38
27097031 2016
8
A Miocene hyperdiverse crocodylian community reveals peculiar trophic dynamics in proto-Amazonian mega-wetlands. 38
25716785 2015
9
Apistogramma ortegai (Teleostei: Cichlidae), a new species of cichlid fish from the Ampyiacu River in the Peruvian Amazon basin. 38
25283927 2014
10
Late Miocene sedimentary environments in south-western Amazonia (Solimões Formation; Brazil). 38
26523089 2011
11
Post-error behavioral adjustments are facilitated by activation and suppression of task-relevant and task-irrelevant information processing. 38
20861380 2010
12
Epidemiological investigation of an acute case of Chagas disease in an area of active transmission in Peruvian Amazon region. 38
21049232 2010
13
Tropical timber rush in Peruvian Amazonia: spatial allocation of forest concessions in an uninventoried frontier. 38
19669830 2009
14
Tracing the impact of the Andean uplift on Neotropical plant evolution. 38
19470489 2009

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 3, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TRAPPC12 NM_016030.6(TRAPPC12): c.360dup (p.Glu121fs) duplication Pathogenic rs1135401749 2:3391754-3391754 2:3387983-3387983
2 TRAPPC12 NM_016030.6(TRAPPC12): c.1880C> T (p.Ala627Val) single nucleotide variant Pathogenic rs768950892 2:3482619-3482619 2:3478848-3478848
3 TRAPPC12 NM_016030.6(TRAPPC12): c.145del (p.Glu49fs) deletion Pathogenic rs1553309983 2:3391539-3391539 2:3387768-3387768

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
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
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40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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