PEBAT
MCID: ENC047
MIFTS: 29

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

Categories: Eye 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 Thin Corpus Callosum:

Name: Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum 56 73 29 6 39
Pebat 56 73 36
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome 58

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:

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


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

OMIM : 56 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, eye and bone, and related phenotypes are muscle weakness and cerebral cortical atrophy

KEGG : 36 Early-onset progressive encephalopathy with brain atrophy and thin corpus callosum (PEBAT) is an autosomal recessive neurodevelopmental and neurodegenerative disorder. Clinical features include developmental delay and profound intellectual disability, seizures, progressive spasticity, and early-onset cortical atrophy. Mutations in TBCD cause PEBAT. TBCD encodes one of the five co-chaperones playing a pivotal role in microtubule assembly.

UniProtKB/Swiss-Prot : 73 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...

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

58 31 (show top 50) (show all 72)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001324
2 cerebral cortical atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0002120
3 skeletal muscle atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003202
4 growth delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001510
5 hypoplasia of the corpus callosum 58 31 hallmark (90%) Very frequent (99-80%) HP:0002079
6 tetraplegia 58 31 frequent (33%) Frequent (79-30%) HP:0002445
7 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
8 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
9 optic atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000648
10 absent speech 58 31 frequent (33%) Frequent (79-30%) HP:0001344
11 generalized tonic-clonic seizures 58 31 frequent (33%) Frequent (79-30%) HP:0002069
12 poor speech 58 31 frequent (33%) Frequent (79-30%) HP:0002465
13 infantile muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0008947
14 generalized tonic seizures 58 31 frequent (33%) Frequent (79-30%) HP:0010818
15 respiratory failure 58 31 frequent (33%) Frequent (79-30%) HP:0002878
16 cerebellar atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0001272
17 progressive spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0002191
18 intellectual disability, profound 58 31 frequent (33%) Frequent (79-30%) HP:0002187
19 postnatal microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0005484
20 cerebral hypomyelination 58 31 frequent (33%) Frequent (79-30%) HP:0006808
21 absent smooth pursuit 58 31 frequent (33%) Frequent (79-30%) HP:0007179
22 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
23 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
24 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
25 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
26 developmental regression 58 31 occasional (7.5%) Occasional (29-5%) HP:0002376
27 widely spaced teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000687
28 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
29 intellectual disability, moderate 58 31 occasional (7.5%) Occasional (29-5%) HP:0002342
30 polyhydramnios 58 31 occasional (7.5%) Occasional (29-5%) HP:0001561
31 arthrogryposis multiplex congenita 58 31 occasional (7.5%) Occasional (29-5%) HP:0002804
32 respiratory failure requiring assisted ventilation 58 31 occasional (7.5%) Occasional (29-5%) HP:0004887
33 congenital microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0011451
34 areflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001284
35 upslanted palpebral fissure 58 31 occasional (7.5%) Occasional (29-5%) HP:0000582
36 chronic constipation 58 31 occasional (7.5%) Occasional (29-5%) HP:0012450
37 fasciculations 58 31 occasional (7.5%) Occasional (29-5%) HP:0002380
38 plagiocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001357
39 urinary incontinence 58 31 occasional (7.5%) Occasional (29-5%) HP:0000020
40 sparse eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0045075
41 fractures of the long bones 58 31 occasional (7.5%) Occasional (29-5%) HP:0003084
42 elevated serum creatine kinase 31 occasional (7.5%) HP:0003236
43 pectus excavatum 58 31 very rare (1%) Very rare (<4-1%) HP:0000767
44 bowel incontinence 58 31 very rare (1%) Very rare (<4-1%) HP:0002607
45 macrotia 58 31 very rare (1%) Very rare (<4-1%) HP:0000400
46 pectus carinatum 58 31 very rare (1%) Very rare (<4-1%) HP:0000768
47 stereotypy 58 31 very rare (1%) Very rare (<4-1%) HP:0000733
48 motor axonal neuropathy 58 31 very rare (1%) Very rare (<4-1%) HP:0007002
49 dystonia 58 31 very rare (1%) Very rare (<4-1%) HP:0001332
50 congenital hip dislocation 58 31 very rare (1%) Very rare (<4-1%) HP:0001374

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
optic atrophy
upslanting palpebral fissures
sparse eyebrows
lack of visual attention

Skeletal Spine:
scoliosis

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

Head And Neck Face:
micrognathia
facial hypotonia

Head And Neck Head:
microcephaly, postnatal

Growth Other:
poor overall growth

Respiratory:
respiratory insufficiency due to hypotonia

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

Genitourinary Bladder:
urinary incontinence (in some patients)

Clinical features from OMIM:

617193

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:

40
Brain, Eye, Bone, Skeletal Muscle, Tongue

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

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

# Title Authors PMID Year
1
Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy. 56 6
27666370 2016
2
Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy. 56 6
27666374 2016

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

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

6 (show all 24) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TBCD NM_005993.5(TBCD):c.1564-12C>GSNV Pathogenic 268166 rs886041084 17:80851411-80851411 17:82893535-82893535
2 TBCD NM_005993.5(TBCD):c.2314C>T (p.Arg772Cys)SNV Pathogenic 268167 rs181969865 17:80882868-80882868 17:82924992-82924992
3 TBCD NM_005993.5(TBCD):c.2761G>A (p.Ala921Thr)SNV Pathogenic 268168 rs886041085 17:80887056-80887056 17:82929180-82929180
4 TBCD NM_005993.5(TBCD):c.1160T>G (p.Met387Arg)SNV Pathogenic 268169 rs886041086 17:80767595-80767595 17:82809719-82809719
5 TBCD NM_005993.5(TBCD):c.2280C>A (p.Tyr760Ter)SNV Pathogenic 268170 rs754750539 17:80882834-80882834 17:82924958-82924958
6 TBCD NM_005993.5(TBCD):c.3365C>T (p.Pro1122Leu)SNV Pathogenic 268171 rs755177846 17:80896008-80896008 17:82938132-82938132
7 TBCD NM_005993.5(TBCD):c.2810C>G (p.Pro937Arg)SNV Pathogenic 268172 rs886041087 17:80887105-80887105 17:82929229-82929229
8 TBCD NM_005993.5(TBCD):c.686T>G (p.Leu229Arg)SNV Pathogenic 268173 rs778417127 17:80739512-80739512 17:82781636-82781636
9 TBCD NM_005993.5(TBCD):c.1876G>A (p.Ala626Thr)SNV Pathogenic 268174 rs749225304 17:80863883-80863883 17:82906007-82906007
10 TBCD NM_005993.5(TBCD):c.1130G>A (p.Arg377Gln)SNV Pathogenic 268175 rs764085684 17:80765526-80765526 17:82807650-82807650
11 TBCD NM_005993.5(TBCD):c.967C>T (p.Arg323Ter)SNV Pathogenic 692021 17:80763767-80763767 17:82805891-82805891
12 TBCD NM_005993.5(TBCD):c.1340C>T (p.Ala447Val)SNV Likely pathogenic 692020 17:80828121-80828121 17:82870245-82870245
13 TBCD NM_005993.5(TBCD):c.230A>G (p.His77Arg)SNV Likely pathogenic 624104 rs1409600874 17:80714086-80714086 17:82756210-82756210
14 TBCD NM_005993.5(TBCD):c.1661C>T (p.Ala554Val)SNV Likely pathogenic 452575 rs1555641324 17:80858538-80858538 17:82900662-82900662
15 TBCD NM_005993.5(TBCD):c.1504C>G (p.Arg502Gly)SNV Likely pathogenic 807699 17:80842049-80842049 17:82884173-82884173
16 TBCD NM_005993.5(TBCD):c.2380-1G>ASNV Likely pathogenic 807700 17:80884275-80884275 17:82926399-82926399
17 TBCD NM_005993.5(TBCD):c.3125C>T (p.Pro1042Leu)SNV Likely pathogenic 807701 17:80890545-80890545 17:82932669-82932669
18 TBCD NM_005993.5(TBCD):c.1537G>A (p.Ala513Thr)SNV Uncertain significance 587585 rs1567966866 17:80847547-80847547 17:82889671-82889671
19 TBCD NM_005993.5(TBCD):c.2137C>G (p.His713Asp)SNV Uncertain significance 587404 rs200903034 17:80879412-80879412 17:82921536-82921536
20 TBCD NM_005993.5(TBCD):c.3126G>A (p.Pro1042=)SNV Uncertain significance 587405 rs369672739 17:80890546-80890546 17:82932670-82932670
21 TBCD NM_005993.5(TBCD):c.1087+5G>ASNV Uncertain significance 635066 rs374775577 17:80763892-80763892 17:82806016-82806016
22 TBCD NM_005993.5(TBCD):c.2209T>C (p.Cys737Arg)SNV Uncertain significance 635067 rs1568053442 17:80881558-80881558 17:82923682-82923682
23 TBCD NM_005993.5(TBCD):c.1712A>G (p.Lys571Arg)SNV Uncertain significance 801003 17:80858589-80858589 17:82900713-82900713
24 TBCD NM_005993.5(TBCD):c.880C>T (p.Arg294Trp)SNV Uncertain significance 423874 rs1064796675 17:80758802-80758802 17:82800926-82800926

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

73 (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

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...

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