PEBEL2
MCID: ENC066
MIFTS: 17

Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy, 2 (PEBEL2)

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, 2:

Name: Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy, 2 58 76 6
Pebel2 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy or early childhood
death in early childhood
episodic regression associated with illness, fever, stress


Classifications:



External Ids:

OMIM 58 618321
MeSH 45 D020271
MedGen 43 CN258203

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

OMIM : 58 Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-2 (PEBEL2) 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, and sometimes seizures, resulting in 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 van Bergen et al., 2019). For a discussion of genetic heterogeneity of PEBEL, see PEBEL1 (617186). (618321)

MalaCards based summary : Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy, 2, is also known as pebel2. An important gene associated with Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy, 2 is NAXD (NAD(P)HX Dehydratase). Affiliated tissues include brain, skin and bone.

UniProtKB/Swiss-Prot : 76 Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2: 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.

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

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

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
ataxia
chorea
developmental regression
irritability
dystonia
more
Skin Nails Hair Skin:
skin rash
epidermolysis
skin lesions
affects groin and axillae

Head And Neck Ears:
hearing loss (in some patients)

Hematology:
pancytopenia (in some patients)
hypocellular bone marrow (in some patients)

Laboratory Abnormalities:
patient cells may show abnormalities in mitochondrial respiration

Abdomen Gastrointestinal:
vomiting
diarrhea

Head And Neck Eyes:
ophthalmoplegia (in some patients)

Cardiovascular Heart:
cardiomyopathy (in some patients)

Metabolic Features:
metabolic decompensation

Clinical features from OMIM:

618321

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, 2

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

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, 2:

42
Brain, Skin, Bone, Bone Marrow

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

Articles related to Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy, 2:

# Title Authors Year
1
NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses. ( 30576410 )
2018

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

ClinVar genetic disease variations for Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy, 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NAXD NM_001242882.1(NAXD): c.922C> T (p.Arg308Cys) single nucleotide variant Pathogenic GRCh37 Chromosome 13, 111290807: 111290807
2 NAXD NM_001242882.1(NAXD): c.922C> T (p.Arg308Cys) single nucleotide variant Pathogenic GRCh38 Chromosome 13, 110638460: 110638460
3 NAXD NM_001242882.1(NAXD): c.839+1G> T single nucleotide variant Pathogenic GRCh38 Chromosome 13, 110637250: 110637250
4 NAXD NM_001242882.1(NAXD): c.839+1G> T single nucleotide variant Pathogenic GRCh37 Chromosome 13, 111289597: 111289597
5 NAXD NM_001242882.1(NAXD): c.948_949insTT (p.Ala317Leufs) insertion Pathogenic GRCh37 Chromosome 13, 111290833: 111290834
6 NAXD NM_001242882.1(NAXD): c.948_949insTT (p.Ala317Leufs) insertion Pathogenic GRCh38 Chromosome 13, 110638486: 110638487
7 NAXD NM_001242882.1(NAXD): c.187G> A (p.Gly63Ser) single nucleotide variant Pathogenic GRCh37 Chromosome 13, 111274703: 111274703
8 NAXD NM_001242882.1(NAXD): c.187G> A (p.Gly63Ser) single nucleotide variant Pathogenic GRCh38 Chromosome 13, 110622356: 110622356
9 NAXD NM_001242882.1(NAXD): c.54_57del (p.Ala20Phefs) deletion Pathogenic GRCh38 Chromosome 13, 110622223: 110622226
10 NAXD NM_001242882.1(NAXD): c.54_57del (p.Ala20Phefs) deletion Pathogenic GRCh37 Chromosome 13, 111274570: 111274573

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, 2.

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...

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9 Cosmic
10 dbSNP
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31 HGMD
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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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