PEBEL
MCID: ENC046
MIFTS: 22

Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy (PEBEL)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or...

MalaCards integrated aliases for Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy:

Name: Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy 58 76 30 6 17
Pebel 58 76 38

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
rapidly progressive
death in early childhood
onset usually associated with febrile illness
onset in first years of life after normal development
undulating course (in some patients)


HPO:

33
encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy:
Clinical modifier death in infancy
Onset and clinical course rapidly progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or...

UniProtKB/Swiss-Prot : 76 Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy: An autosomal recessive severe neurometabolic disorder characterized by severe leukoencephalopathy usually associated with a trivial febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures. Disease course is rapidly progressive, leading to coma, global brain atrophy, and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions.

MalaCards based summary : Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy, also known as pebel, is related to encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2. An important gene associated with Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy is NAXE (NAD(P)HX Epimerase). Affiliated tissues include brain and skin, and related phenotypes are brain atrophy and nystagmus

OMIM : 58 Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy (PEBEL) is an autosomal recessive severe neurometabolic disorder characterized by rapidly progressive neurologic deterioration that is usually associated with a febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures, resulting in coma and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions (summary by Kremer et al., 2016). (617186)

Related Diseases for Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or...

Diseases in the Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy family:

Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy, 2

Diseases related to Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 13.1

Symptoms & Phenotypes for Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or...

Human phenotypes related to Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy:

33 (show all 19)
# Description HPO Frequency HPO Source Accession
1 brain atrophy 33 HP:0012444
2 nystagmus 33 HP:0000639
3 seizures 33 HP:0001250
4 ataxia 33 HP:0001251
5 tremor 33 HP:0001337
6 developmental regression 33 HP:0002376
7 strabismus 33 HP:0000486
8 increased serum lactate 33 HP:0002151
9 lactic acidosis 33 HP:0003128
10 coma 33 HP:0001259
11 generalized hypotonia 33 HP:0001290
12 encephalopathy 33 HP:0001298
13 skin erosion 33 HP:0200041
14 tetraparesis 33 HP:0002273
15 increased csf lactate 33 HP:0002490
16 cerebellar edema 33 HP:0030915
17 cerebral edema 33 HP:0002181
18 myelopathy 33 HP:0002196
19 leukoencephalopathy 33 HP:0002352

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
brain atrophy
seizures
ataxia
tremor
coma
more
Laboratory Abnormalities:
increased serum lactate
increased csf lactate

Skin Nails Hair Skin:
skin erosion
skin blistering
erythematous bullous skin lesions

Respiratory:
respiratory failure due to hypotonia

Head And Neck Eyes:
nystagmus
strabismus

Metabolic Features:
lactic acidosis

Muscle Soft Tissue:
hypotonia
mitochondrial dysfunction seen on muscle biopsy (in some patients)

Clinical features from OMIM:

617186

Drugs & Therapeutics for Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or...

Search Clinical Trials , NIH Clinical Center for Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy

Genetic Tests for Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or...

Genetic tests related to Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy:

# Genetic test Affiliating Genes
1 Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy 30 NAXE

Anatomical Context for Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or...

MalaCards organs/tissues related to Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy:

42
Brain, Skin

Publications for Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or...

Articles related to Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy:

# Title Authors Year
1
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre. ( 27290639 )
2016
2
NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood. ( 27616477 )
2016

Variations for Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or...

UniProtKB/Swiss-Prot genetic disease variations for Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy:

76
# Symbol AA change Variation ID SNP ID
1 NAXE p.Ala94Asp VAR_077991 rs879255647
2 NAXE p.Asp218Val VAR_077992 rs886041064

ClinVar genetic disease variations for Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 NAXE NM_144772.2(NAXE): c.177C> A (p.Tyr59Ter) single nucleotide variant Pathogenic rs371872027 GRCh38 Chromosome 1, 156591981: 156591981
2 NAXE NM_144772.2(NAXE): c.177C> A (p.Tyr59Ter) single nucleotide variant Pathogenic rs371872027 GRCh37 Chromosome 1, 156561773: 156561773
3 NAXE NM_144772.2(NAXE): c.196C> T (p.Gln66Ter) single nucleotide variant Pathogenic rs759251812 GRCh37 Chromosome 1, 156561906: 156561906
4 NAXE NM_144772.2(NAXE): c.196C> T (p.Gln66Ter) single nucleotide variant Pathogenic rs759251812 GRCh38 Chromosome 1, 156592114: 156592114
5 NAXE NM_144772.2(NAXE): c.516+1G> A single nucleotide variant Pathogenic rs139093330 GRCh38 Chromosome 1, 156592671: 156592671
6 NAXE NM_144772.2(NAXE): c.516+1G> A single nucleotide variant Pathogenic rs139093330 GRCh37 Chromosome 1, 156562463: 156562463
7 NAXE NM_144772.2(NAXE): c.804_807delGAAGinsA (p.Lys270del) indel Pathogenic rs886041062 GRCh38 Chromosome 1, 156594021: 156594024
8 NAXE NM_144772.2(NAXE): c.804_807delGAAGinsA (p.Lys270del) indel Pathogenic rs886041062 GRCh37 Chromosome 1, 156563813: 156563816
9 NAXE NM_144772.2(NAXE): c.743delC (p.Ala248Glufs) deletion Pathogenic rs886041063 GRCh38 Chromosome 1, 156593960: 156593960
10 NAXE NM_144772.2(NAXE): c.743delC (p.Ala248Glufs) deletion Pathogenic rs886041063 GRCh37 Chromosome 1, 156563752: 156563752
11 NAXE NM_144772.2(NAXE): c.653A> T (p.Asp218Val) single nucleotide variant Pathogenic rs886041064 GRCh37 Chromosome 1, 156563336: 156563336
12 NAXE NM_144772.2(NAXE): c.653A> T (p.Asp218Val) single nucleotide variant Pathogenic rs886041064 GRCh38 Chromosome 1, 156593544: 156593544

Expression for Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or...

Search GEO for disease gene expression data for Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy.

Pathways for Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or...

GO Terms for Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or...

Sources for Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or...

3 CDC
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10 dbSNP
11 DGIdb
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33 HPO
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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