PELD
MCID: ENC038
MIFTS: 34

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 57 75 29 6 40 73
Peld 57 75
Severe Neurodegenerative Syndrome Due to Bscl2 Deficiency 59
Severe Neurodegenerative Syndrome with Lipodystrophy 59

Characteristics:

Orphanet epidemiological data:

59
severe neurodegenerative syndrome with lipodystrophy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
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:

32
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 : 75 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, Seipin Lipid Droplet Biogenesis Associated). Affiliated tissues include liver and skin, and related phenotypes are hypertension and seizures

OMIM : 57 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 10.1
2 biliary atresia 10.1
3 encephalopathy 10.1
4 acute liver failure 10.0
5 thrombosis 10.0
6 foot drop 10.0
7 spastic paraplegia 17 9.7 BSCL2 HNRNPUL2-BSCL2
8 berardinelli-seip congenital lipodystrophy 9.6 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

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0000822
2 seizures 59 32 Frequent (79-30%) HP:0001250
3 ataxia 59 32 Frequent (79-30%) HP:0001251
4 spasticity 59 32 frequent (33%) Frequent (79-30%) HP:0001257
5 tremor 59 32 frequent (33%) Frequent (79-30%) HP:0001337
6 hyperreflexia 59 32 Frequent (79-30%) HP:0001347
7 sleep disturbance 59 32 frequent (33%) Frequent (79-30%) HP:0002360
8 coarse facial features 59 32 frequent (33%) Frequent (79-30%) HP:0000280
9 hepatomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002240
10 delayed speech and language development 59 32 frequent (33%) Frequent (79-30%) HP:0000750
11 myopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003198
12 hypertriglyceridemia 59 32 occasional (7.5%) Frequent (79-30%) HP:0002155
13 acanthosis nigricans 59 32 occasional (7.5%) Occasional (29-5%) HP:0000956
14 generalized hirsutism 59 32 occasional (7.5%) Occasional (29-5%) HP:0002230
15 myoclonus 59 32 frequent (33%) Frequent (79-30%) HP:0001336
16 progressive psychomotor deterioration 59 32 hallmark (90%) Very frequent (99-80%) HP:0007272
17 hepatic steatosis 59 32 frequent (33%) Frequent (79-30%) HP:0001397
18 hyperinsulinemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000842
19 cirrhosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001394
20 gait ataxia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002066
21 status epilepticus 59 32 very rare (1%) Very rare (<4-1%) HP:0002133
22 respiratory failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0002878
23 progressive encephalopathy 59 32 obligate (100%) Obligate (100%) HP:0002448
24 brisk reflexes 59 32 frequent (33%) Frequent (79-30%) HP:0001348
25 hyperactivity 59 32 occasional (7.5%) Occasional (29-5%) HP:0000752
26 cerebral atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002059
27 insulin resistance 59 32 hallmark (90%) Very frequent (99-80%) HP:0000855
28 tetraparesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002273
29 neuronal loss in central nervous system 59 32 occasional (7.5%) Occasional (29-5%) HP:0002529
30 generalized lipodystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0009064
31 reduced subcutaneous adipose tissue 59 32 hallmark (90%) Very frequent (99-80%) HP:0003758
32 limb dystonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002451
33 reduced intraabdominal adipose tissue 59 32 hallmark (90%) Very frequent (99-80%) HP:0025128
34 poor motor coordination 59 32 frequent (33%) Frequent (79-30%) HP:0002275
35 caudate atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002340
36 developmental regression 32 HP:0002376
37 abnormal pyramidal signs 59 Frequent (79-30%)
38 cognitive impairment 59 Very frequent (99-80%)
39 dystonia 32 HP:0001332
40 mental deterioration 32 HP:0001268
41 encephalopathy 32 HP:0001298
42 loss of speech 32 HP:0002371
43 abnormal pyramidal sign 32 frequent (33%) HP:0007256

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


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

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 29 BSCL2

Anatomical Context for Encephalopathy, Progressive, with or Without Lipodystrophy

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

41
Liver, Skin

Publications for Encephalopathy, Progressive, with or Without Lipodystrophy

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

(show all 33)
# 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
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
6
Transcriptional start site turnover in the evolution of bacterial paralogous genes - the pelE-pelD virulence genes in Dickeya. ( 27727510 )
2016
7
Results after the adoption of a MELD/PELD-based liver allocation policy in Argentina. ( 25414131 )
2015
8
Key points for intraoperative management of percutaneous endoscopic lumbar discectomy (PELD) for anesthesiologists. ( 23652176 )
2013
9
Expression, purification, crystallization and preliminary X-ray analysis of Pseudomonas aeruginosa PelD. ( 22297994 )
2012
10
Structure of the cytoplasmic region of PelD, a degenerate diguanylate cyclase receptor that regulates exopolysaccharide production in Pseudomonas aeruginosa. ( 22605337 )
2012
11
Structures of the PelD cyclic diguanylate effector involved in pellicle formation in Pseudomonas aeruginosa PAO1. ( 22810222 )
2012
12
The impact of MELD/PELD revisions on the mortality of liver-intestine transplantation candidates. ( 21827611 )
2011
13
Identifying the futile pediatric liver re-transplant in the PELD era. ( 21108708 )
2010
14
QTc prolongation and liver disease--as good as PELD score? ( 18992049 )
2009
15
PELD allocation and acute liver/graft failure. ( 17457898 )
2007
16
The pediatric end-stage liver disease (PELD) model as a predictor of survival benefit and posttransplant survival in pediatric liver transplant recipients. ( 16498644 )
2006
17
Population behavior analysis of dspE and pelD regulation in Erwinia chrysanthemi 3937. ( 16610748 )
2006
18
Evidence-based evolution of the MELD/PELD liver allocation policy. ( 15719393 )
2005
19
Excellent liver transplant survival rates under the MELD/PELD system. ( 15848465 )
2005
20
PELD: working well, but only half of the time? ( 15996222 )
2005
21
Improving liver allocation: MELD and PELD. ( 15113360 )
2004
22
Overview of the MELD/PELD system of liver allocation indications for liver transplantation in the MELD era: evidence-based patient selection. ( 15382218 )
2004
23
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
24
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
25
Selection of pediatric candidates under the PELD system. ( 15384170 )
2004
26
Evaluation of the PELD risk score as a severity index of biliary atresia. ( 12861526 )
2003
27
MELD/PELD: one year later. ( 14611977 )
2003
28
The impact of PELD on OPTN liver allocation: preliminary results. ( 15387095 )
2003
29
MELD and PELD: application of survival models to liver allocation. ( 11460223 )
2001
30
Regulation of pelD and pelE, encoding major alkaline pectate lyases in Erwinia chrysanthemi: involvement of the main transcriptional factors. ( 10498706 )
1999
31
Percutaneous endoscopic lumbar discectomy (PELD). ( 8345904 )
1993
32
Percutaneous endoscopic laser discectomy (PELD). A new surgical technique for non-sequestrated lumbar discs. ( 1595409 )
1992
33
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

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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74 UMLS via Orphanet
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