MCID: ENC059
MIFTS: 17

Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Spasticity

Categories: Genetic diseases, Neuronal diseases, Ear diseases, Fetal 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 75 6
Pebas 57 75
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)


Classifications:



External Ids:

OMIM 57 617669
Orphanet 59 ORPHA500144
MeSH 44 D001927

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

UniProtKB/Swiss-Prot : 75 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 pebas. 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.

Description 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...

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
encephalopathy
hypsarrhythmia
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...

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 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 GRCh38 Chromosome 2, 3387768: 3387768
6 TRAPPC12 NM_016030.5(TRAPPC12): c.145delG (p.Glu49Argfs) deletion Pathogenic 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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