PEBAT
MCID: ENC047
MIFTS: 26

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 57 74 29 6 40
Pebat 57 74 37
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:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:



External Ids:

OMIM 57 617193
KEGG 37 H02261
MeSH 44 D020271
Orphanet 59 ORPHA496641

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, bone and tongue, and related phenotypes are hypertelorism and muscle weakness

KEGG : 37
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 : 74 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:

59 32 (show top 50) (show all 70)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 Occasional (29-5%) HP:0000316
2 muscle weakness 59 32 Very frequent (99-80%) HP:0001324
3 developmental regression 59 32 Occasional (29-5%) HP:0002376
4 scoliosis 59 32 Occasional (29-5%) HP:0002650
5 widely spaced teeth 59 32 Occasional (29-5%) HP:0000687
6 global developmental delay 59 32 Frequent (79-30%) HP:0001263
7 optic atrophy 59 32 Frequent (79-30%) HP:0000648
8 micrognathia 59 32 Occasional (29-5%) HP:0000347
9 skeletal muscle atrophy 59 32 Very frequent (99-80%) HP:0003202
10 feeding difficulties 59 32 Frequent (79-30%) HP:0011968
11 absent speech 59 32 Frequent (79-30%) HP:0001344
12 arthrogryposis multiplex congenita 59 32 Occasional (29-5%) HP:0002804
13 upslanted palpebral fissure 59 32 Occasional (29-5%) HP:0000582
14 cerebellar atrophy 59 32 Frequent (79-30%) HP:0001272
15 hypoplasia of the corpus callosum 59 32 Very frequent (99-80%) HP:0002079
16 sparse eyebrow 59 32 Occasional (29-5%) HP:0045075
17 postnatal microcephaly 59 32 Frequent (79-30%) HP:0005484
18 pectus excavatum 59 Very rare (<4-1%)
19 intellectual disability 32 HP:0001249
20 seizures 32 HP:0001250
21 ataxia 59 Occasional (29-5%)
22 spasticity 59 Very frequent (99-80%)
23 dysphagia 59 Occasional (29-5%)
24 constipation 32 HP:0002019
25 tetraplegia 59 Frequent (79-30%)
26 bowel incontinence 59 Very rare (<4-1%)
27 macrotia 59 Very rare (<4-1%)
28 pectus carinatum 59 Very rare (<4-1%)
29 stereotypy 59 Very rare (<4-1%)
30 spastic tetraplegia 32 HP:0002510
31 elevated serum creatine phosphokinase 59 Occasional (29-5%)
32 areflexia 59 Occasional (29-5%)
33 tongue fasciculations 32 HP:0001308
34 motor axonal neuropathy 59 Very rare (<4-1%)
35 growth delay 59 Very frequent (99-80%)
36 dystonia 59 Very rare (<4-1%)
37 generalized tonic-clonic seizures 59 Frequent (79-30%)
38 ventriculomegaly 32 HP:0002119
39 cerebral cortical atrophy 59 Very frequent (99-80%)
40 congenital hip dislocation 59 Very rare (<4-1%)
41 intellectual disability, moderate 59 Occasional (29-5%)
42 generalized tonic seizures 59 Frequent (79-30%)
43 febrile seizures 59 Very rare (<4-1%)
44 polyhydramnios 59 Occasional (29-5%)
45 respiratory failure 59 Frequent (79-30%)
46 fasciculations 59 Occasional (29-5%)
47 recurrent pneumonia 59 Very rare (<4-1%)
48 intellectual disability, profound 59 Frequent (79-30%)
49 plagiocephaly 59 Occasional (29-5%)
50 severe muscular hypotonia 32 HP:0006829

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

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, Bone, Tongue, Eye, Skeletal Muscle

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. 8 71
27666370 2016
2
Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy. 8 71
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 17)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TBCD NM_005993.5(TBCD): c.1564-12C> G single nucleotide variant Pathogenic rs886041084 17:80851411-80851411 17:82893535-82893535
2 TBCD NM_005993.5(TBCD): c.2314C> T (p.Arg772Cys) single nucleotide variant Pathogenic rs181969865 17:80882868-80882868 17:82924992-82924992
3 TBCD NM_005993.5(TBCD): c.2761G> A (p.Ala921Thr) single nucleotide variant Pathogenic rs886041085 17:80887056-80887056 17:82929180-82929180
4 TBCD NM_005993.5(TBCD): c.1160T> G (p.Met387Arg) single nucleotide variant Pathogenic rs886041086 17:80767595-80767595 17:82809719-82809719
5 TBCD NM_005993.5(TBCD): c.2280C> A (p.Tyr760Ter) single nucleotide variant Pathogenic rs754750539 17:80882834-80882834 17:82924958-82924958
6 TBCD NM_005993.5(TBCD): c.3365C> T (p.Pro1122Leu) single nucleotide variant Pathogenic rs755177846 17:80896008-80896008 17:82938132-82938132
7 TBCD NM_005993.5(TBCD): c.2810C> G (p.Pro937Arg) single nucleotide variant Pathogenic rs886041087 17:80887105-80887105 17:82929229-82929229
8 TBCD NM_005993.5(TBCD): c.686T> G (p.Leu229Arg) single nucleotide variant Pathogenic rs778417127 17:80739512-80739512 17:82781636-82781636
9 TBCD NM_005993.5(TBCD): c.1876G> A (p.Ala626Thr) single nucleotide variant Pathogenic rs749225304 17:80863883-80863883 17:82906007-82906007
10 TBCD NM_005993.5(TBCD): c.1130G> A (p.Arg377Gln) single nucleotide variant Pathogenic rs764085684 17:80765526-80765526 17:82807650-82807650
11 TBCD NM_005993.5(TBCD): c.1661C> T (p.Ala554Val) single nucleotide variant Likely pathogenic rs1555641324 17:80858538-80858538 17:82900662-82900662
12 TBCD NM_005993.5(TBCD): c.880C> T (p.Arg294Trp) single nucleotide variant Uncertain significance rs1064796675 17:80758802-80758802 17:82800926-82800926
13 TBCD NM_005993.5(TBCD): c.1537G> A (p.Ala513Thr) single nucleotide variant Uncertain significance 17:80847547-80847547 17:82889671-82889671
14 TBCD NM_005993.5(TBCD): c.2137C> G (p.His713Asp) single nucleotide variant Uncertain significance 17:80879412-80879412 17:82921536-82921536
15 TBCD NM_005993.5(TBCD): c.3126G> A (p.Pro1042=) single nucleotide variant Uncertain significance 17:80890546-80890546 17:82932670-82932670
16 TBCD NM_005993.5(TBCD): c.1087+5G> A single nucleotide variant Uncertain significance 17:80763892-80763892 17:82806016-82806016
17 TBCD NM_005993.5(TBCD): c.2209T> C (p.Cys737Arg) single nucleotide variant Uncertain significance 17:80881558-80881558 17:82923682-82923682

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

74 (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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