PELD
MCID: ENC038
MIFTS: 33

Encephalopathy, Progressive, with or Without Lipodystrophy (PELD)

Categories: Endocrine diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Encephalopathy, Progressive, with or Without Lipodystrophy

MalaCards integrated aliases for Encephalopathy, Progressive, with or Without Lipodystrophy:

Name: Encephalopathy, Progressive, with or Without Lipodystrophy 58 76 30 6 41 74
Peld 58 76
Severe Neurodegenerative Syndrome Due to Bscl2 Deficiency 60
Severe Neurodegenerative Syndrome with Lipodystrophy 60

Characteristics:

Orphanet epidemiological data:

60
severe neurodegenerative syndrome with lipodystrophy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset of encephalopathy between ages 2 and 3 years
death usually occurs in childhood
lipodystrophic appearance may be mild or not present


HPO:

33
encephalopathy, progressive, with or without lipodystrophy:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Encephalopathy, Progressive, with or Without Lipodystrophy

UniProtKB/Swiss-Prot : 76 Encephalopathy, progressive, with or without lipodystrophy: A neurodegenerative disease characterized by developmental regression of motor and cognitive skills in the first years of life, often leading to death in the first decade, hyperactive behavior, seizures, tremor and ataxic gait. Patients may show a mild or typical lipodystrophic appearance.

MalaCards based summary : Encephalopathy, Progressive, with or Without Lipodystrophy, also known as peld, is related to liver disease and biliary atresia, and has symptoms including seizures, ataxia and tremor. An important gene associated with Encephalopathy, Progressive, with or Without Lipodystrophy is BSCL2 (BSCL2 Lipid Droplet Biogenesis Associated, Seipin). Affiliated tissues include liver and skin, and related phenotypes are progressive encephalopathy and progressive psychomotor deterioration

OMIM : 58 Progressive encephalopathy with or without lipodystrophy is a severe neurodegenerative disorder characterized by developmental regression of motor and cognitive skills in the first years of life, often leading to death in the first decade. Patients may show a mild or typical lipodystrophic appearance (summary by Guillen-Navarro et al., 2013). (615924)

Related Diseases for Encephalopathy, Progressive, with or Without Lipodystrophy

Diseases related to Encephalopathy, Progressive, with or Without Lipodystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 liver disease 10.2
2 biliary atresia 10.2
3 encephalopathy 10.2
4 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.0
5 acute liver failure 10.0
6 thrombosis 10.0
7 foot drop 10.0
8 spastic paraplegia 17 9.6 BSCL2 HNRNPUL2-BSCL2
9 berardinelli-seip congenital lipodystrophy 9.4 BSCL2 HNRNPUL2-BSCL2

Graphical network of the top 20 diseases related to Encephalopathy, Progressive, with or Without Lipodystrophy:



Diseases related to Encephalopathy, Progressive, with or Without Lipodystrophy

Symptoms & Phenotypes for Encephalopathy, Progressive, with or Without Lipodystrophy

Human phenotypes related to Encephalopathy, Progressive, with or Without Lipodystrophy:

60 33 (show all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 progressive encephalopathy 60 33 obligate (100%) Obligate (100%) HP:0002448
2 progressive psychomotor deterioration 60 33 hallmark (90%) Very frequent (99-80%) HP:0007272
3 hyperinsulinemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000842
4 insulin resistance 60 33 hallmark (90%) Very frequent (99-80%) HP:0000855
5 generalized lipodystrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0009064
6 reduced subcutaneous adipose tissue 60 33 hallmark (90%) Very frequent (99-80%) HP:0003758
7 reduced intraabdominal adipose tissue 60 33 hallmark (90%) Very frequent (99-80%) HP:0025128
8 spasticity 60 33 frequent (33%) Frequent (79-30%) HP:0001257
9 tremor 60 33 frequent (33%) Frequent (79-30%) HP:0001337
10 sleep disturbance 60 33 frequent (33%) Frequent (79-30%) HP:0002360
11 abnormal pyramidal sign 60 33 frequent (33%) Frequent (79-30%) HP:0007256
12 coarse facial features 60 33 frequent (33%) Frequent (79-30%) HP:0000280
13 delayed speech and language development 60 33 frequent (33%) Frequent (79-30%) HP:0000750
14 hypertriglyceridemia 60 33 occasional (7.5%) Frequent (79-30%) HP:0002155
15 myoclonus 60 33 frequent (33%) Frequent (79-30%) HP:0001336
16 hepatic steatosis 60 33 frequent (33%) Frequent (79-30%) HP:0001397
17 brisk reflexes 60 33 frequent (33%) Frequent (79-30%) HP:0001348
18 poor motor coordination 60 33 frequent (33%) Frequent (79-30%) HP:0002275
19 hypertension 60 33 occasional (7.5%) Occasional (29-5%) HP:0000822
20 hepatomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0002240
21 myopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0003198
22 acanthosis nigricans 60 33 occasional (7.5%) Occasional (29-5%) HP:0000956
23 generalized hirsutism 60 33 occasional (7.5%) Occasional (29-5%) HP:0002230
24 cirrhosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001394
25 gait ataxia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002066
26 respiratory failure 60 33 occasional (7.5%) Occasional (29-5%) HP:0002878
27 hyperactivity 60 33 occasional (7.5%) Occasional (29-5%) HP:0000752
28 cerebral atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0002059
29 neuronal loss in central nervous system 60 33 occasional (7.5%) Occasional (29-5%) HP:0002529
30 tetraparesis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002273
31 caudate atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0002340
32 limb dystonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002451
33 status epilepticus 60 33 very rare (1%) Very rare (<4-1%) HP:0002133
34 seizures 60 33 Frequent (79-30%) HP:0001250
35 ataxia 60 33 Frequent (79-30%) HP:0001251
36 hyperreflexia 60 33 Frequent (79-30%) HP:0001347
37 developmental regression 33 HP:0002376
38 cognitive impairment 60 Very frequent (99-80%)
39 dystonia 33 HP:0001332
40 mental deterioration 33 HP:0001268
41 encephalopathy 33 HP:0001298
42 loss of speech 33 HP:0002371

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
ataxia
spasticity
tremor
hyperreflexia
more
Abdomen Liver:
hepatomegaly (in some patients)

Laboratory Abnormalities:
hypertriglyceridemia (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity

Muscle Soft Tissue:
lipoatrophic appearance
loss of subcutaneous and visceral adipose tissue, mild

Clinical features from OMIM:

615924

UMLS symptoms related to Encephalopathy, Progressive, with or Without Lipodystrophy:


seizures, ataxia, tremor, myoclonus, muscle spasticity, abnormal pyramidal signs, quadriparesis

Drugs & Therapeutics for Encephalopathy, Progressive, with or Without Lipodystrophy

Search Clinical Trials , NIH Clinical Center for Encephalopathy, Progressive, with or Without Lipodystrophy

Genetic Tests for Encephalopathy, Progressive, with or Without Lipodystrophy

Genetic tests related to Encephalopathy, Progressive, with or Without Lipodystrophy:

# Genetic test Affiliating Genes
1 Encephalopathy, Progressive, with or Without Lipodystrophy 30 BSCL2

Anatomical Context for Encephalopathy, Progressive, with or Without Lipodystrophy

MalaCards organs/tissues related to Encephalopathy, Progressive, with or Without Lipodystrophy:

42
Liver, Skin

Publications for Encephalopathy, Progressive, with or Without Lipodystrophy

Articles related to Encephalopathy, Progressive, with or Without Lipodystrophy:

(show all 40)
# Title Authors Year
1
Waiting list outcome of Peld/Meld exceptions: A single-center experience in Argentina. ( 29297966 )
2018
2
Comparison of MED and PELD in the Treatment of Adolescent Lumbar Disc Herniation: A 5-Year Retrospective Follow-Up. ( 29325949 )
2018
3
Radiographic measurement for transforaminal percutaneous endoscopic approach (PELD). ( 26922736 )
2017
4
A case-control study on the treatment of protrusion of lumbar intervertebral disc through PELD and MED. ( 29042967 )
2017
5
Whole Exome Sequencing Reveals a BSCL2 Mutation Causing Progressive Encephalopathy with Lipodystrophy (PELD) in an Iranian Pediatric Patient. ( 27452399 )
2016
6
Skipped BSCL2 Transcript in Celia's Encephalopathy (PELD): New Insights on Fatty Acids Involvement, Senescence and Adipogenesis. ( 27391332 )
2016
7
A Modified Approach of Percutaneous Endoscopic Lumbar Discectomy (PELD) for Far Lateral Disc Herniation at L5-S1 with Foot Drop. ( 26839673 )
2016
8
Results of pediatric living donor compared to deceased donor liver transplantation in the PELD/MELD era: Experience from two centers on two different continents. ( 26861217 )
2016
9
Transcriptional start site turnover in the evolution of bacterial paralogous genes - the pelE-pelD virulence genes in Dickeya. ( 27727510 )
2016
10
Results after the adoption of a MELD/PELD-based liver allocation policy in Argentina. ( 25414131 )
2015
11
Key points for intraoperative management of percutaneous endoscopic lumbar discectomy (PELD) for anesthesiologists. ( 23652176 )
2013
12
A new seipin-associated neurodegenerative syndrome. ( 23564749 )
2013
13
PELD score and age as a prognostic index of biliary atresia patients undergoing Kasai portoenterostomy. ( 22331203 )
2012
14
Expression, purification, crystallization and preliminary X-ray analysis of Pseudomonas aeruginosa PelD. ( 22297994 )
2012
15
Structure of the cytoplasmic region of PelD, a degenerate diguanylate cyclase receptor that regulates exopolysaccharide production in Pseudomonas aeruginosa. ( 22605337 )
2012
16
Structures of the PelD cyclic diguanylate effector involved in pellicle formation in Pseudomonas aeruginosa PAO1. ( 22810222 )
2012
17
The impact of MELD/PELD revisions on the mortality of liver-intestine transplantation candidates. ( 21827611 )
2011
18
Identifying the futile pediatric liver re-transplant in the PELD era. ( 21108708 )
2010
19
QTc prolongation and liver disease--as good as PELD score? ( 18992049 )
2009
20
PELD allocation and acute liver/graft failure. ( 17457898 )
2007
21
The pediatric end-stage liver disease (PELD) model as a predictor of survival benefit and posttransplant survival in pediatric liver transplant recipients. ( 16498644 )
2006
22
Population behavior analysis of dspE and pelD regulation in Erwinia chrysanthemi 3937. ( 16610748 )
2006
23
Evidence-based evolution of the MELD/PELD liver allocation policy. ( 15719393 )
2005
24
Excellent liver transplant survival rates under the MELD/PELD system. ( 15848465 )
2005
25
PELD score and posttransplant outcome in pediatric liver transplantation: a retrospective study of 100 recipients. ( 15880084 )
2005
26
PELD: working well, but only half of the time? ( 15996222 )
2005
27
Improving liver allocation: MELD and PELD. ( 15113360 )
2004
28
Overview of the MELD/PELD system of liver allocation indications for liver transplantation in the MELD era: evidence-based patient selection. ( 15382218 )
2004
29
Summary report of a national conference: Evolving concepts in liver allocation in the MELD and PELD era. December 8, 2003, Washington, DC, USA. ( 15382225 )
2004
30
MELD/PELD and the allocation of deceased donor livers for status 1 recipients with acute fulminant hepatic failure, primary nonfunction, hepatic artery thrombosis, and acute Wilson's disease. ( 15382286 )
2004
31
Selection of pediatric candidates under the PELD system. ( 15384170 )
2004
32
Evaluation of the PELD risk score as a severity index of biliary atresia. ( 12861526 )
2003
33
MELD/PELD: one year later. ( 14611977 )
2003
34
The impact of PELD on OPTN liver allocation: preliminary results. ( 15387095 )
2003
35
MELD and PELD: application of survival models to liver allocation. ( 11460223 )
2001
36
Regulation of pelD and pelE, encoding major alkaline pectate lyases in Erwinia chrysanthemi: involvement of the main transcriptional factors. ( 10498706 )
1999
37
Identification of a novel pelD gene expressed uniquely in planta by Fusarium solani f. sp. pisi (Nectria haematococca, mating type VI) and characterization of its protein product as an endo-pectate lyase. ( 8806739 )
1996
38
Percutaneous endoscopic lumbar discectomy (PELD). ( 8345904 )
1993
39
Percutaneous endoscopic laser discectomy (PELD). A new surgical technique for non-sequestrated lumbar discs. ( 1595409 )
1992
40
Regulation of expression of pectate lyase genes pelA, pelD, and pelE in Erwinia chrysanthemi. ( 3108234 )
1987

Variations for Encephalopathy, Progressive, with or Without Lipodystrophy

ClinVar genetic disease variations for Encephalopathy, Progressive, with or Without Lipodystrophy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 BSCL2 NM_032667.6(BSCL2): c.317_321delATCGT (p.Tyr106Cysfs) deletion Pathogenic rs587777608 GRCh38 Chromosome 11, 62694685: 62694689
2 BSCL2 NM_032667.6(BSCL2): c.317_321delATCGT (p.Tyr106Cysfs) deletion Pathogenic rs587777608 GRCh37 Chromosome 11, 62462157: 62462161
3 BSCL2 NM_032667.6(BSCL2): c.793C> T (p.Arg265Ter) single nucleotide variant Pathogenic rs587777606 GRCh38 Chromosome 11, 62691300: 62691300
4 BSCL2 NM_032667.6(BSCL2): c.793C> T (p.Arg265Ter) single nucleotide variant Pathogenic rs587777606 GRCh37 Chromosome 11, 62458772: 62458772
5 BSCL2 NM_001122955.3(BSCL2): c.538G> T (p.Glu180Ter) single nucleotide variant Pathogenic rs587777607 GRCh38 Chromosome 11, 62694660: 62694660
6 BSCL2 NM_001122955.3(BSCL2): c.538G> T (p.Glu180Ter) single nucleotide variant Pathogenic rs587777607 GRCh37 Chromosome 11, 62462132: 62462132
7 BSCL2 NM_032667.6(BSCL2): c.1106C> T (p.Ala369Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 62690458: 62690458
8 BSCL2 NM_032667.6(BSCL2): c.1106C> T (p.Ala369Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 62457930: 62457930

Expression for Encephalopathy, Progressive, with or Without Lipodystrophy

Search GEO for disease gene expression data for Encephalopathy, Progressive, with or Without Lipodystrophy.

Pathways for Encephalopathy, Progressive, with or Without Lipodystrophy

GO Terms for Encephalopathy, Progressive, with or Without Lipodystrophy

Sources for Encephalopathy, Progressive, with or Without Lipodystrophy

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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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