MCID: ENC047
MIFTS: 24

Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum

Categories: Genetic diseases, Neuronal diseases, Eye 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 Thin Corpus Callosum:

Name: Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum 57 75 29 6 40
Pebat 57 75
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome 59

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset at birth or in the first months of life


HPO:

32
encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:



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

OMIM : 57 PEBAT is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development apparent soon after birth or in infancy, profound intellectual disability, poor or absent speech, and seizures. Most patients are never able to walk due to hypotonia or spasticity. Brain imaging shows cerebral and cerebellar atrophy, thin corpus callosum, and secondary hypomyelination. The disorder shows progressive features, including microcephaly, consistent with a neurodegenerative process (summary by Miyake et al., 2016; Flex et al., 2016). (617193)

MalaCards based summary : Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum, is also known as pebat. An important gene associated with Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum is TBCD (Tubulin Folding Cofactor D). Affiliated tissues include brain, tongue and skeletal muscle, and related phenotypes are facial hypotonia and hypertelorism

UniProtKB/Swiss-Prot : 75 Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum: An autosomal recessive disease with neurodevelopmental and neurodegenerative features. PEBAT is characterized by early-onset cortical atrophy, hypomyelination, microcephaly, thin corpus callosum, delayed psychomotor development, developmental regression, intellectual disability, seizures, optic atrophy, muscle weakness and atrophy, spastic quadriplegia, and respiratory insufficiency due to hypotonia.

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
Head And Neck Eyes:
hypertelorism
optic atrophy
upslanting palpebral fissures
sparse eyebrows
lack of visual attention

Muscle Soft Tissue:
muscle weakness
muscle atrophy
hypotonia, severe
myopathic changes seen on muscle biopsy

Skeletal Spine:
scoliosis

Head And Neck Face:
micrognathia
facial hypotonia

Head And Neck Head:
microcephaly, postnatal

Growth Other:
poor overall growth

Genitourinary Bladder:
incontinence (in some patients)

Neurologic Central Nervous System:
intellectual disability
seizures
developmental regression
spastic tetraplegia
cerebellar atrophy
more
Abdomen Gastrointestinal:
constipation
poor feeding

Head And Neck Teeth:
widely spaced teeth

Head And Neck Mouth:
tongue fasciculations

Skeletal:
arthrogryposis

Respiratory:
respiratory insufficiency due to hypotonia


Clinical features from OMIM:

617193

Human phenotypes related to Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum:

32 (show all 30)
# Description HPO Frequency HPO Source Accession
1 facial hypotonia 32 HP:0000297
2 hypertelorism 32 HP:0000316
3 micrognathia 32 HP:0000347
4 upslanted palpebral fissure 32 HP:0000582
5 optic atrophy 32 HP:0000648
6 widely spaced teeth 32 HP:0000687
7 intellectual disability 32 HP:0001249
8 seizures 32 HP:0001250
9 global developmental delay 32 HP:0001263
10 cerebellar atrophy 32 HP:0001272
11 encephalopathy 32 HP:0001298
12 tongue fasciculations 32 HP:0001308
13 muscle weakness 32 HP:0001324
14 constipation 32 HP:0002019
15 hypoplasia of the corpus callosum 32 HP:0002079
16 ventriculomegaly 32 HP:0002119
17 gliosis 32 HP:0002171
18 developmental regression 32 HP:0002376
19 diffuse cerebral atrophy 32 HP:0002506
20 spastic tetraplegia 32 HP:0002510
21 neuronal loss in central nervous system 32 HP:0002529
22 scoliosis 32 HP:0002650
23 arthrogryposis multiplex congenita 32 HP:0002804
24 skeletal muscle atrophy 32 HP:0003202
25 cns hypomyelination 32 HP:0003429
26 postnatal microcephaly 32 HP:0005484
27 severe muscular hypotonia 32 HP:0006829
28 atrophy/degeneration affecting the brainstem 32 HP:0007366
29 feeding difficulties 32 HP:0011968
30 sparse eyebrow 32 HP:0045075

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 Thin Corpus Callosum

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

Genetic tests related to Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum:

# Genetic test Affiliating Genes
1 Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum 29 TBCD

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

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

41
Brain, Tongue, Skeletal Muscle, Eye

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

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

UniProtKB/Swiss-Prot genetic disease variations for Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum:

75 (show all 11)
# Symbol AA change Variation ID SNP ID
1 TBCD p.Leu229Arg VAR_077968 rs778417127
2 TBCD p.Thr374Met VAR_077969 rs953299085
3 TBCD p.Arg377Gln VAR_077970 rs764085684
4 TBCD p.Met387Arg VAR_077971 rs886041086
5 TBCD p.Ala475Thr VAR_077972 rs775014444
6 TBCD p.Ala586Val VAR_077973
7 TBCD p.Ala626Thr VAR_077974 rs749225304
8 TBCD p.Arg772Cys VAR_077975 rs181969865
9 TBCD p.Ala921Thr VAR_077976 rs886041085
10 TBCD p.Pro937Arg VAR_077977 rs886041087
11 TBCD p.Pro1122Leu VAR_077980 rs755177846

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

6
(show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 TBCD NM_005993.4(TBCD): c.1564-12C> G single nucleotide variant Pathogenic rs886041084 GRCh38 Chromosome 17, 82893535: 82893535
2 TBCD NM_005993.4(TBCD): c.1564-12C> G single nucleotide variant Pathogenic rs886041084 GRCh37 Chromosome 17, 80851411: 80851411
3 TBCD NM_005993.4(TBCD): c.2314C> T (p.Arg772Cys) single nucleotide variant Pathogenic rs181969865 GRCh37 Chromosome 17, 80882868: 80882868
4 TBCD NM_005993.4(TBCD): c.2314C> T (p.Arg772Cys) single nucleotide variant Pathogenic rs181969865 GRCh38 Chromosome 17, 82924992: 82924992
5 TBCD NM_005993.4(TBCD): c.2761G> A (p.Ala921Thr) single nucleotide variant Pathogenic rs886041085 GRCh38 Chromosome 17, 82929180: 82929180
6 TBCD NM_005993.4(TBCD): c.2761G> A (p.Ala921Thr) single nucleotide variant Pathogenic rs886041085 GRCh37 Chromosome 17, 80887056: 80887056
7 TBCD NM_005993.4(TBCD): c.1160T> G (p.Met387Arg) single nucleotide variant Pathogenic rs886041086 GRCh38 Chromosome 17, 82809719: 82809719
8 TBCD NM_005993.4(TBCD): c.1160T> G (p.Met387Arg) single nucleotide variant Pathogenic rs886041086 GRCh37 Chromosome 17, 80767595: 80767595
9 TBCD NM_005993.4(TBCD): c.2280C> A (p.Tyr760Ter) single nucleotide variant Pathogenic rs754750539 GRCh38 Chromosome 17, 82924958: 82924958
10 TBCD NM_005993.4(TBCD): c.2280C> A (p.Tyr760Ter) single nucleotide variant Pathogenic rs754750539 GRCh37 Chromosome 17, 80882834: 80882834
11 TBCD NM_005993.4(TBCD): c.3365C> T (p.Pro1122Leu) single nucleotide variant Pathogenic rs755177846 GRCh38 Chromosome 17, 82938132: 82938132
12 TBCD NM_005993.4(TBCD): c.3365C> T (p.Pro1122Leu) single nucleotide variant Pathogenic rs755177846 GRCh37 Chromosome 17, 80896008: 80896008
13 TBCD NM_005993.4(TBCD): c.2810C> G (p.Pro937Arg) single nucleotide variant Pathogenic rs886041087 GRCh38 Chromosome 17, 82929229: 82929229
14 TBCD NM_005993.4(TBCD): c.2810C> G (p.Pro937Arg) single nucleotide variant Pathogenic rs886041087 GRCh37 Chromosome 17, 80887105: 80887105
15 TBCD NM_005993.4(TBCD): c.686T> G (p.Leu229Arg) single nucleotide variant Pathogenic rs778417127 GRCh37 Chromosome 17, 80739512: 80739512
16 TBCD NM_005993.4(TBCD): c.686T> G (p.Leu229Arg) single nucleotide variant Pathogenic rs778417127 GRCh38 Chromosome 17, 82781636: 82781636
17 TBCD NM_005993.4(TBCD): c.1876G> A (p.Ala626Thr) single nucleotide variant Pathogenic rs749225304 GRCh38 Chromosome 17, 82906007: 82906007
18 TBCD NM_005993.4(TBCD): c.1876G> A (p.Ala626Thr) single nucleotide variant Pathogenic rs749225304 GRCh37 Chromosome 17, 80863883: 80863883
19 TBCD NM_005993.4(TBCD): c.1130G> A (p.Arg377Gln) single nucleotide variant Pathogenic rs764085684 GRCh37 Chromosome 17, 80765526: 80765526
20 TBCD NM_005993.4(TBCD): c.1130G> A (p.Arg377Gln) single nucleotide variant Pathogenic rs764085684 GRCh38 Chromosome 17, 82807650: 82807650

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 Thin Corpus Callosum.

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...

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