PEBAS
MCID: ENC059
MIFTS: 27

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 72 39
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome 58 29 6
Pebas 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
encephalopathy, progressive, early-onset, with brain atrophy and spasticity:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive congenital onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


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

UniProtKB/Swiss-Prot : 72 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, is also known as early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome. An important gene associated with Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Spasticity is TRAPPC12 (Trafficking Protein Particle Complex Subunit 12). Affiliated tissues include brain, pons and cerebellum, and related phenotypes are spasticity and scoliosis

More information from OMIM: 617669

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

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

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

58 31 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0001257
2 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
3 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
4 gastroesophageal reflux 58 31 frequent (33%) Frequent (79-30%) HP:0002020
5 myoclonus 58 31 frequent (33%) Frequent (79-30%) HP:0001336
6 cerebral cortical atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002120
7 ventriculomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002119
8 dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0001332
9 severe global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0011344
10 partial agenesis of the corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0001338
11 gastrostomy tube feeding in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0011471
12 muscular hypotonia of the trunk 58 31 frequent (33%) Frequent (79-30%) HP:0008936
13 cerebral visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0100704
14 hypoplasia of the pons 58 31 frequent (33%) Frequent (79-30%) HP:0012110
15 hyperintensity of cerebral white matter on mri 58 31 frequent (33%) Frequent (79-30%) HP:0030890
16 congenital microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0011451
17 hypoplasia of the optic tract 58 31 frequent (33%) Frequent (79-30%) HP:0007096
18 developmental regression 58 31 occasional (7.5%) Occasional (29-5%) HP:0002376
19 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
20 vocal cord paralysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001605
21 polyhydramnios 58 31 occasional (7.5%) Occasional (29-5%) HP:0001561
22 increased csf lactate 58 31 occasional (7.5%) Occasional (29-5%) HP:0002490
23 postnatal microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0005484
24 hypsarrhythmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002521
25 neurogenic bladder 58 31 occasional (7.5%) Occasional (29-5%) HP:0000011
26 hip subluxation 58 31 occasional (7.5%) Occasional (29-5%) HP:0030043
27 increased cup-to-disc ratio 58 31 occasional (7.5%) Occasional (29-5%) HP:0012796
28 epileptic spasm 31 occasional (7.5%) HP:0011097
29 seizure 31 very rare (1%) HP:0001250
30 agenesis of corpus callosum 58 31 Occasional (29-5%) HP:0001274
31 seizures 58 Frequent (79-30%)
32 hearing impairment 31 HP:0000365
33 microcephaly 31 HP:0000252
34 encephalopathy 31 HP:0001298
35 feeding difficulties 31 HP:0011968
36 epileptic spasms 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Spine:
scoliosis

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)

Abdomen Gastrointestinal:
dysphagia
poor feeding
reflux

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

Clinical features from OMIM®:

617669 (Updated 05-Apr-2021)

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...

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

# Genetic test Affiliating Genes
1 Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome 29 TRAPPC12

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:

40
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:

(show all 20)
# Title Authors PMID Year
1
Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction. 57 6
28777934 2017
2
Evolution and biogeographic history of the Saguinus mystax group (Primates, Callithrichidae). 61
33492691 2021
3
Expanding Clinical Phenotype of TRAPPC12-Related Childhood Encephalopathy: Two Cases and Review of Literature. 61
32369837 2020
4
New record of Neosaimiri (Cebidae, Platyrrhini) from the late Middle Miocene of Peruvian Amazonia. 61
32652341 2020
5
Predation of the giant Miocene caiman Purussaurus on a mylodontid ground sloth in the wetlands of proto-Amazonia. 61
32842894 2020
6
Vastly underestimated species richness of Amazonian salamanders (Plethodontidae: Bolitoglossa) and implications about plethodontid diversification. 61
32305511 2020
7
An exploration of the complex biogeographical history of the Neotropical banner-wing damselflies (Odonata: Polythoridae). 61
32580705 2020
8
Atlantic forests to the all Americas: Biogeographical history and divergence times of Neotropical Ficus (Moraceae). 61
29371027 2018
9
Parallel diversifications of Cremastosperma and Mosannona (Annonaceae), tropical rainforest trees tracking Neogene upheaval of South America. 61
29410860 2018
10
Dental remains of cebid platyrrhines from the earliest late Miocene of Western Amazonia, Peru: Macroevolutionary implications on the extant capuchin and marmoset lineages. 61
27430626 2016
11
A minute ostracod (Crustacea: Cytheromatidae) from the Miocene Solimões Formation (western Amazonia, Brazil): evidence for marine incursions? 61
27453692 2016
12
A dated phylogeny of the papilionoid legume genus Canavalia reveals recent diversification by a pantropical liana lineage. 61
26860339 2016
13
A New 13 Million Year Old Gavialoid Crocodylian from Proto-Amazonian Mega-Wetlands Reveals Parallel Evolutionary Trends in Skull Shape Linked to Longirostry. 61
27097031 2016
14
A Miocene hyperdiverse crocodylian community reveals peculiar trophic dynamics in proto-Amazonian mega-wetlands. 61
25716785 2015
15
Apistogramma ortegai (Teleostei: Cichlidae), a new species of cichlid fish from the Ampyiacu River in the Peruvian Amazon basin. 61
25283927 2014
16
Late Miocene sedimentary environments in south-western Amazonia (Solimões Formation; Brazil). 61
26523089 2011
17
Post-error behavioral adjustments are facilitated by activation and suppression of task-relevant and task-irrelevant information processing. 61
20861380 2010
18
Epidemiological investigation of an acute case of Chagas disease in an area of active transmission in Peruvian Amazon region. 61
21049232 2010
19
Tropical timber rush in Peruvian Amazonia: spatial allocation of forest concessions in an uninventoried frontier. 61
19669830 2009
20
Tracing the impact of the Andean uplift on Neotropical plant evolution. 61
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
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TRAPPC12 NM_016030.6(TRAPPC12):c.360dup (p.Glu121fs) Duplication Pathogenic 430822 rs1135401749 GRCh37: 2:3391749-3391750
GRCh38: 2:3387978-3387979
2 TRAPPC12 NM_016030.6(TRAPPC12):c.1880C>T (p.Ala627Val) SNV Pathogenic 430823 rs768950892 GRCh37: 2:3482619-3482619
GRCh38: 2:3478848-3478848
3 TRAPPC12 NM_016030.6(TRAPPC12):c.1604-1G>T SNV Likely pathogenic 1029569 GRCh37: 2:3464033-3464033
GRCh38: 2:3460262-3460262
4 TRAPPC12 NM_016030.6(TRAPPC12):c.145del (p.Glu49fs) Deletion Likely pathogenic 438738 rs1553309983 GRCh37: 2:3391539-3391539
GRCh38: 2:3387768-3387768
5 TRAPPC12 NM_016030.6(TRAPPC12):c.496C>A (p.Arg166Ser) SNV Uncertain significance 1029570 GRCh37: 2:3391890-3391890
GRCh38: 2:3388119-3388119
6 TRAPPC12 NM_016030.6(TRAPPC12):c.641C>T (p.Ala214Val) SNV Uncertain significance 1033387 GRCh37: 2:3392035-3392035
GRCh38: 2:3388264-3388264
7 TRAPPC12 NM_016030.6(TRAPPC12):c.1394C>T (p.Pro465Leu) SNV Uncertain significance 1029567 GRCh37: 2:3428411-3428411
GRCh38: 2:3424640-3424640
8 TRAPPC12 NM_016030.6(TRAPPC12):c.1597A>G (p.Arg533Gly) SNV Uncertain significance 1029568 GRCh37: 2:3461458-3461458
GRCh38: 2:3457687-3457687

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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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