PELD
MCID: ENC038
MIFTS: 40

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 56 73 29 6 39 71
Peld 56 73
Severe Neurodegenerative Syndrome Due to Bscl2 Deficiency 58
Severe Neurodegenerative Syndrome with Lipodystrophy 58

Characteristics:

Orphanet epidemiological data:

58
severe neurodegenerative syndrome with lipodystrophy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
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:

31
encephalopathy, progressive, with or without lipodystrophy:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare skin diseases
Rare endocrine diseases


Summaries for Encephalopathy, Progressive, with or Without Lipodystrophy

UniProtKB/Swiss-Prot : 73 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 biliary atresia and liver disease, and has symptoms including seizures, ataxia and myoclonus. An important gene associated with Encephalopathy, Progressive, with or Without Lipodystrophy is BSCL2 (BSCL2 Lipid Droplet Biogenesis Associated, Seipin). The drugs Lenograstim and Sargramostim have been mentioned in the context of this disorder. Affiliated tissues include liver, skin and neutrophil, and related phenotypes are progressive encephalopathy and progressive psychomotor deterioration

OMIM : 56 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:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 biliary atresia 10.4
2 liver disease 10.4
3 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.3
4 encephalopathy 10.3
5 spondylolisthesis 10.1
6 spinal stenosis 10.1
7 hepatopulmonary syndrome 10.1
8 cholangitis 10.1
9 foot drop 10.1
10 hypertonia 10.1
11 acute liver failure 10.1
12 spastic paraplegia 17 9.5 HNRNPUL2-BSCL2 BSCL2
13 berardinelli-seip congenital lipodystrophy 9.5 HNRNPUL2-BSCL2 BSCL2
14 congenital generalized lipodystrophy 9.5 HNRNPUL2-BSCL2 BSCL2
15 hereditary spastic paraplegia 9.4 HNRNPUL2-BSCL2 BSCL2
16 charcot-marie-tooth disease 9.2 HNRNPUL2-BSCL2 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:

58 31 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 progressive encephalopathy 58 31 obligate (100%) Obligate (100%) HP:0002448
2 progressive psychomotor deterioration 58 31 hallmark (90%) Very frequent (99-80%) HP:0007272
3 hyperinsulinemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000842
4 insulin resistance 58 31 hallmark (90%) Very frequent (99-80%) HP:0000855
5 generalized lipodystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0009064
6 reduced subcutaneous adipose tissue 58 31 hallmark (90%) Very frequent (99-80%) HP:0003758
7 reduced intraabdominal adipose tissue 58 31 hallmark (90%) Very frequent (99-80%) HP:0025128
8 coarse facial features 58 31 frequent (33%) Frequent (79-30%) HP:0000280
9 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%) HP:0000750
10 sleep disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0002360
11 abnormal pyramidal sign 58 31 frequent (33%) Frequent (79-30%) HP:0007256
12 spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0001257
13 hypertriglyceridemia 58 31 occasional (7.5%) Frequent (79-30%) HP:0002155
14 myoclonus 58 31 frequent (33%) Frequent (79-30%) HP:0001336
15 tremor 58 31 frequent (33%) Frequent (79-30%) HP:0001337
16 hepatic steatosis 58 31 frequent (33%) Frequent (79-30%) HP:0001397
17 brisk reflexes 58 31 frequent (33%) Frequent (79-30%) HP:0001348
18 poor motor coordination 58 31 frequent (33%) Frequent (79-30%) HP:0002275
19 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
20 myopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003198
21 cirrhosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001394
22 hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0000822
23 generalized hirsutism 58 31 occasional (7.5%) Occasional (29-5%) HP:0002230
24 acanthosis nigricans 58 31 occasional (7.5%) Occasional (29-5%) HP:0000956
25 gait ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002066
26 respiratory failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0002878
27 cerebral atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002059
28 tetraparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002273
29 hyperactivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000752
30 limb dystonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002451
31 neuronal loss in central nervous system 58 31 occasional (7.5%) Occasional (29-5%) HP:0002529
32 caudate atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002340
33 status epilepticus 58 31 very rare (1%) Very rare (<4-1%) HP:0002133
34 ataxia 58 31 Frequent (79-30%) HP:0001251
35 hyperreflexia 58 31 Frequent (79-30%) HP:0001347
36 seizures 58 Frequent (79-30%)
37 developmental regression 31 HP:0002376
38 cognitive impairment 58 Very frequent (99-80%)
39 mental deterioration 31 HP:0001268
40 dystonia 31 HP:0001332
41 encephalopathy 31 HP:0001298
42 loss of speech 31 HP:0002371
43 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
spasticity
ataxia
myoclonus
tremor
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, myoclonus, tremor, muscle spasticity, abnormal pyramidal signs, quadriparesis

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

Drugs for Encephalopathy, Progressive, with or Without Lipodystrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lenograstim Approved, Investigational Phase 3 135968-09-1
2
Sargramostim Approved, Investigational Phase 3 83869-56-1, 123774-72-1
3
Sorbitol Approved Phase 3 50-70-4 5780
4 Adjuvants, Immunologic Phase 3
5 Immunologic Factors Phase 3
6 Anesthetics
7 Calamus
8 Liver Extracts

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Role of Granulocyte-Colony Stimulating Factor (G-CSF) for Improving PELD Score and Nutritional Status in Pediatric Liver Cirrhosis Prior to Liver Transplantation Through Immunomodulation of Neutrophil, CD34+ Cell, TNF-α and IL-10 Enrolling by invitation NCT04113317 Phase 3 G-CSF (Filgrastim)
2 Comparisons of TESSYS and "U" Route Procedures of Transforaminal Percutaneous Endoscopic Lumbar Discectomy on Lumbar Spinal Stenosis Treatment Completed NCT04314453
3 Investigation of Changes in ADAMTS-13 and Von Willebrand Factor Levels and Activities in Children With Cirrhosis and/or Portal Hypertension Completed NCT04267406
4 An Effect and Safety Investigation on Percutaneous Endoscopic Lumbar Discectomy Technique to Remove Extraforaminal Disc Herniation at L5/S1 Segment Through 5th Transverse Process-facet Joint-sacrum Space Recruiting NCT03511456
5 Biliary Atresia Study in Infants and Children (BASIC) Suspended NCT00345553

Search 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:

40
Liver, Skin, Neutrophil, Testes, Brain, Bone, Colon

Publications for Encephalopathy, Progressive, with or Without Lipodystrophy

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

(show top 50) (show all 474)
# Title Authors PMID Year
1
A new seipin-associated neurodegenerative syndrome. 56 6
23564749 2013
2
BSCL2-Related Neurologic Disorders/Seipinopathy 6
20301484 2005
3
Is selective nerve root block necessary for learning percutaneous endoscopic lumbar discectomy: a comparative study using a cumulative summation test for learning curve. 61
32367234 2020
4
Competing risks and the risks of children and adults competing for livers. 61
32564513 2020
5
Percutaneous Endoscopic Lumbar Discectomy as an Emergent Surgery for Cauda Equina Syndrome Caused by Lumbar Disc Herniation. 61
32517401 2020
6
Can the Novel LumboIliac Triangle Technique Based on Biplane Oblique Fluoroscopy Facilitate Transforaminal Percutaneous Endoscopic Lumbar Discectomy for Patients with L5-S1 Disc Herniation Combined with High Iliac Crest? Case-Control Study of 100 Patients. 61
32517397 2020
7
Minimum 2-Year Efficacy of Percutaneous Endoscopic Lumbar Discectomy versus Microendoscopic Discectomy: A Meta-Analysis. 61
32109644 2020
8
Renal Function Parameters and Serum Sodium Enhance Prediction of Waitlist Outcomes in Pediatric Liver Transplantation. 61
32485002 2020
9
Percutaneous Endoscopic Lumbar Discectomy (PELD) via a Transforaminal and Interlaminar Combined Approach for Very Highly Migrated Lumbar Disc Herniation (LDH) Between L4/5 and L5/S1 Level. 61
32506068 2020
10
[Clinical outcomes of spinal endoscopic surgery for tiny lumbar disc herniation with severe radiating pain of lower limb]. 61
32573153 2020
11
Preoperative serum 25-hydroxyvitamin D3 and the incidence of early pulmonary infection after pediatric living donor liver transplantation. 61
32501629 2020
12
Role of Granulocyte Colony Stimulating Factor on the Short-Term Outcome of Children with Acute on Chronic Liver Failure. 61
32405176 2020
13
Hypervolemic hyponatremia and transplant-free survival in children with cirrhosis due to biliary atresia. 61
32134176 2020
14
Comparison of the effects of general and local anesthesia in lumbar interlaminar endoscopic surgery. 61
32434370 2020
15
The impact of Medial reduction of left lateral segment, a novel technique for living donor liver transplantation for small pediatric recipients. 61
32471006 2020
16
Recurrent disc herniation following percutaneous endoscopic lumbar discectomy preferentially occurs when Modic changes are present. 61
32410638 2020
17
Prognostic Factors in Pediatric Early Liver Retransplantation. 61
31965712 2020
18
Complication rates of different discectomy techniques for symptomatic lumbar disc herniation: a systematic review and meta-analysis. 61
32274586 2020
19
Three dimensional finite element analysis used to study the influence of the stress and strain of the operative and adjacent segments through different foraminnoplasty technique in the PELD: Study protocol clinical trial (SPIRIT Compliant). 61
32282719 2020
20
Improving the predictive ability of the pediatric end-stage liver disease score for young children awaiting liver transplant. 61
32306489 2020
21
Comparison of Radiation Exposure Among 3 Different Endoscopic Diskectomy Techniques for Lumbar Disk Herniation. 61
32330613 2020
22
Early outcomes of transforaminal percutaneous endoscopic lumbar discectomy for high school athletes with herniated nucleus pulposus of the lumbar spine. 61
32301825 2020
23
Discovery and characterization of a Gram-positive Pel polysaccharide biosynthetic gene cluster. 61
32236137 2020
24
Blood stream infections in children in the first year after liver transplantation at Wits Donald Gordon Medical Centre, South Africa. 61
31985168 2020
25
Pediatric living donor liver transplantation decade progress in Shanghai: Characteristics and risks factors of mortality. 61
32256022 2020
26
Pel Polysaccharide Biosynthesis Requires an Inner Membrane Complex Comprised of PelD, PelE, PelF, and PelG. 61
31988082 2020
27
Cocktail Treatment with a Gelatin Sponge Impregnated with Ropivacaine, Dexamethasone, and Vitamin B12 Promotes Early Postoperative Recovery after Percutaneous Endoscopic Lumbar Discectomy: A Retrospective, Case-Controlled Study. 61
32214306 2020
28
Comparison of the Safety and Effectiveness of Percutaneous Endoscopic Lumbar Discectomy for Treating Lumbar Disc Herniation Under Epidural Anesthesia and General Anesthesia. 61
32054145 2020
29
[Effect of Quantitative indicators of ilium height on approach of percutaneous endoscopic lumbar discectomy treatment in patients with L 5, S 1 lumbar disc herniation]. 61
32030944 2020
30
Effect of time to first ambulation on recurrence after PELD. 61
32103757 2020
31
Diagnostic value of soluble programmed cell death protein-1 in type-1 autoimmune hepatitis in Egyptian children. 61
31762332 2020
32
Society of pediatric liver transplantation: Current registry status 2011-2018. 61
31680409 2020
33
Severity of Ascites Is Associated with Increased Mortality in Patients with Cirrhosis Secondary to Biliary Atresia. 61
31907773 2020
34
Autologous fibroblasts induce fibrosis of the nucleus pulposus to maintain the stability of degenerative intervertebral discs. 61
32128275 2020
35
Neurophysiologic monitoring for treatment of upper lumbar disc herniation with percutaneous endoscopic lumbar discectomy: A case report on the significance of an increase in the amplitude of motor evoked potential responses after decompression and literature review. 61
32109861 2020
36
Percutaneous Endoscopic Lumbar Discectomy: Indications and Complications. 61
32013278 2020
37
Efficacy Analysis of Percutaneous Endoscopic Lumbar Discectomy Combined with PEEK Rods for Giant Lumbar Disc Herniation: A Randomized Controlled Study. 61
32215135 2020
38
Two-level percutaneous endoscopic lumbar discectomy for highly migrated upper lumbar disc herniation: A case report. 61
31970183 2020
39
Late-Onset Hepatic Failure in Children: Risk Factors that Determine the Outcome. 61
31940614 2020
40
Posterior percutaneous endoscopic lumbar discectomy combined with the vertical anchoring technique for lumbar disc herniation with distant upward migration. 61
31881917 2019
41
Percutaneous endoscopic lumbar discectomy for lumbar disc herniation as day surgery - short-term clinical results of 235 consecutive cases. 61
31804313 2019
42
Could the Splitting of the Annulus During Percutaneous Endoscopic Lumbar Diskectomy (PELD) Be a Culprit for Recurrent Disk Herniation?: An Analysis of the Reherniation Pattern After PELD. 61
31442646 2019
43
Impact of the Pediatric End-Stage Liver Disease (PELD) growth failure thresholds on mortality among pediatric liver transplant candidates. 61
31370108 2019
44
Impact of Acuity Circles on Outcomes for Pediatric Liver Transplant Candidates. 61
31895347 2019
45
Factors Associated With Growth After Deceased and Live Donor Pediatric Liver Transplantation. 61
31711584 2019
46
Living Donor Liver Transplantation in Children: Perioperative Risk Factors and a Nomogram for Prediction of Survival. 61
31815909 2019
47
Determining the optimal timing of liver transplant for pediatric patients after Kasai portoenterostomy based on disease severity scores. 61
31759650 2019
48
Predicting chance of liver transplantation for pediatric wait-list candidates. 61
31313464 2019
49
Technique and outcome of domino liver transplantation from patients with maple syrup urine disease: Expanding the donor pool for live donor liver transplantation. 61
31556146 2019
50
Ultrasound-guided transforaminal percutaneous endoscopic lumbar discectomy: a new guidance method that reduces radiation doses. 61
31087164 2019

Variations for Encephalopathy, Progressive, with or Without Lipodystrophy

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

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BSCL2 NM_032667.6(BSCL2):c.317_321del (p.Tyr106fs)deletion Pathogenic 4535 rs587777608 11:62462157-62462161 11:62694685-62694689
2 BSCL2 NM_032667.6(BSCL2):c.793C>T (p.Arg265Ter)SNV Pathogenic 143858 rs587777606 11:62458772-62458772 11:62691300-62691300
3 BSCL2 NM_032667.6(BSCL2):c.346G>T (p.Glu116Ter)SNV Pathogenic 143859 rs587777607 11:62462132-62462132 11:62694660-62694660
4 BSCL2 NM_032667.6(BSCL2):c.1106C>T (p.Ala369Val)SNV Uncertain significance 566241 rs141657385 11:62457930-62457930 11:62690458-62690458

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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