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 57 73 29 6 39 71
Peld 57 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®:

57 (Updated 05-Mar-2021)
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 liver disease and back pain, 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). The drugs Sargramostim and Lenograstim have been mentioned in the context of this disorder. Affiliated tissues include liver, neutrophil and brain, and related phenotypes are progressive encephalopathy and progressive psychomotor deterioration

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) (Updated 05-Mar-2021)

Related Diseases for Encephalopathy, Progressive, with or Without Lipodystrophy

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 spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0001257
9 sleep disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0002360
10 abnormal pyramidal sign 58 31 frequent (33%) Frequent (79-30%) HP:0007256
11 tremor 58 31 frequent (33%) Frequent (79-30%) HP:0001337
12 coarse facial features 58 31 frequent (33%) Frequent (79-30%) HP:0000280
13 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%) HP:0000750
14 hypertriglyceridemia 58 31 occasional (7.5%) Frequent (79-30%) HP:0002155
15 myoclonus 58 31 frequent (33%) Frequent (79-30%) HP:0001336
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 hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0000822
20 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
21 myopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003198
22 cirrhosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001394
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 hyperreflexia 58 31 Frequent (79-30%) HP:0001347
35 ataxia 58 31 Frequent (79-30%) HP:0001251
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®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
seizures
spasticity
hyperreflexia
ataxia
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 (Updated 05-Mar-2021)

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

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

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

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)

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, Neutrophil, Brain, Bone, Kidney

Publications for Encephalopathy, Progressive, with or Without Lipodystrophy

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

(show top 50) (show all 508)
# Title Authors PMID Year
1
A new seipin-associated neurodegenerative syndrome. 6 57
23564749 2013
2
Should adjacent asymptomatic lumbar disc herniation be simultaneously rectified? A retrospective cohort study of 371 cases that received an open fusion or endoscopic discectomy only on symptomatic segments. 61
32947038 2021
3
Follow-up results of microendoscopic discectomy compared to day surgery using percutaneous endoscopic lumbar discectomy for the treatment of lumbar disc herniation. 61
33563264 2021
4
Meta-analysis of the operative treatment of lumbar disc herniation via transforaminal percutaneous endoscopic discectomy versus interlaminar percutaneous endoscopic discectomy in randomized trials. 61
33592819 2021
5
Mac-2 Binding Protein Glycan Isomer as non-invasive tool to assess liver fibrosis in children with chronic liver disease. 61
33393720 2021
6
Quorum Sensing Signaling Molecules Positively Regulate c-di-GMP Effector PelD Encoding Gene and PEL Exopolysaccharide Biosynthesis in Extremophile Bacterium Acidithiobacillus thiooxidans. 61
33430222 2021
7
A matched comparison of outcomes between percutaneous endoscopic lumbar discectomy and open lumbar microdiscectomy for the treatment of lumbar disc herniation: a 2-year retrospective cohort study. 61
32683107 2021
8
Improving the predictive ability of the pediatric end-stage liver disease score for young children awaiting liver transplant. 61
32306489 2021
9
Short-term effectiveness of precise safety decompression via double percutaneous lumbar foraminoplasty and percutaneous endoscopic lumbar decompression for lateral lumbar spinal canal stenosis: a prospective cohort study. 61
33446166 2021
10
Symptomatic postoperative discal pseudocyst following percutaneous endoscopic lumbar discectomy: A case report and review of the literature. 61
33545999 2021
11
Clinical Outcomes of "U" Route Transforaminal Percutaneous Endoscopic Lumbar Discectomy in Chronic Pain Patients with Lumbar Spinal Stenosis Combined with Disc Herniation. 61
33532011 2021
12
Efficacy of percutaneous endoscopic lumbar discectomy for pediatric lumbar disc herniation and degeneration on magnetic resonance imaging: case series and literature review. 61
33472475 2021
13
Segmental Atrophy of Explanted Livers in Biliary Atresia: Pathological Data From 63 Cases of Failed Portoenterostomy. 61
32868669 2021
14
Baseline neutrophil-lymphocyte ratio is associated with survival for infant living donor liver transplantation for biliary atresia. 61
33270958 2020
15
Minimising Radiation Exposure to The Surgeon in Minimally Invasive Spine Surgeries: A Systematic Review of 15 studies. 61
33333283 2020
16
Does Robot Navigation and Intraoperative Computed Tomography Guidance Help with Percutaneous Endoscopic Lumbar Discectomy? A Match-Paired Study. 61
33385595 2020
17
Severity of Ascites Is Associated with Increased Mortality in Patients with Cirrhosis Secondary to Biliary Atresia. 61
31907773 2020
18
Random forest analysis identifies change in serum creatinine and listing status as the most predictive variables of an outcome for young children on liver transplant waitlist. 61
33232568 2020
19
Early outcomes of transforaminal percutaneous endoscopic lumbar discectomy for high school athletes with herniated nucleus pulposus of the lumbar spine. 61
32301825 2020
20
Seizures after percutaneous endoscopic lumbar discectomy: A case report. 61
33217789 2020
21
Heterogeneous circles for liver allocation. 61
33219592 2020
22
Pediatric length-of-stay index following liver transplantation. 61
32720748 2020
23
Pediatric retransplantation of the liver: A prognostic scoring tool. 61
32794255 2020
24
pCLIF-SOFA is a reliable outcome prognostication score of critically ill children with cirrhosis: an ESPNIC multicentre study. 61
33052510 2020
25
Difficult-to-treat ascitic fluid infection is a predictor of transplant-free survival in childhood decompensated chronic liver disease. 61
33098063 2020
26
The efficacy of bilateral intervertebral foramen block for pain management in percutaneous endoscopic lumbar discectomy: A protocol for randomized controlled trial. 61
33031340 2020
27
Metreleptin for the treatment of progressive encephalopathy with/without lipodystrophy (PELD) in a child with progressive myoclonic epilepsy: a case report. 61
33099310 2020
28
Clinical effects of transforaminal approach vs interlaminar approach in treating lumbar disc herniation: A clinical study protocol. 61
33126307 2020
29
[Current situation of pediatric liver transplantation in Chile. Inequities associated with the MELD/PELD prioritization system]. 61
33399701 2020
30
Determining the optimal timing of liver transplant for pediatric patients after Kasai portoenterostomy based on disease severity scores. 61
31759650 2020
31
Gradient local anesthesia for percutaneous endoscopic interlaminar discectomy at the L5/S1 level: a feasibility study. 61
32933553 2020
32
Pediatric chronic liver failure-sequential organ failure assessment score and outcome of acute liver failure in children. 61
33145429 2020
33
Linical efficacy of percutaneous endoscopic lumbar discectomy for the treatment of lumbar spinal stenosis in elderly patients: a retrospective study. 61
32972436 2020
34
End-Stage Liver Disease Models and Outcomes in Pediatric Patients Supported With Short-Term Continuous-Flow Ventricular Assist Devices. 61
32740355 2020
35
Functional Evolution after Percutaneous Endoscopic Lumbar Discectomy, an Earlier Evaluation of 32 Cases. 61
32904845 2020
36
Effect of chelation therapy in pediatric Wilson's disease: Liver and endoscopic outcome. 61
32745371 2020
37
Estimation and influence of blood loss under endoscope for percutaneous endoscopic lumbar discectomy (PELD): a clinical observational study combined with in vitro experiment. 61
32711563 2020
38
Complication rates of different discectomy techniques for symptomatic lumbar disc herniation: a systematic review and meta-analysis. 61
32274586 2020
39
Nerve root entrapment with pseudomeningocele after percutaneous endoscopic lumbar discectomy: A case report. 61
30211668 2020
40
The minimally invasive spinal surgery in the treatment of posterior edge separation. 61
32762222 2020
41
[Treatment of upper lumbar disc herniation with percutaneous endoscopic lumbar discectomy through two different approaches]. 61
32700484 2020
42
Bi-needle technique versus transforaminal endoscopic spine system technique for percutaneous endoscopic lumbar discectomy in treating intervertebral disc calcification: a propensity score matched cohort analysis. 61
32633573 2020
43
Comparison of Radiation Exposure Among 3 Different Endoscopic Diskectomy Techniques for Lumbar Disk Herniation. 61
32330613 2020
44
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
45
Percutaneous Endoscopic Lumbar Discectomy as an Emergent Surgery for Cauda Equina Syndrome Caused by Lumbar Disc Herniation. 61
32517401 2020
46
[Clinical outcomes of spinal endoscopic surgery for tiny lumbar disc herniation with severe radiating pain of lower limb]. 61
32573153 2020
47
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
48
Renal Function Parameters and Serum Sodium Enhance Prediction of Waitlist Outcomes in Pediatric Liver Transplantation. 61
32485002 2020
49
Micro-anatomical structures of the lumbar intervertebral foramen for full-endoscopic spine surgery: review of the literatures. 61
32656378 2020
50
Minimum 2-Year Efficacy of Percutaneous Endoscopic Lumbar Discectomy versus Microendoscopic Discectomy: A Meta-Analysis. 61
32109644 2020

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.346G>T (p.Glu116Ter) SNV Pathogenic 143859 rs587777607 11:62462132-62462132 11:62694660-62694660
2 BSCL2 NM_032667.6(BSCL2):c.317_321del (p.Tyr106fs) Deletion Pathogenic 4535 rs587777608 11:62462157-62462161 11:62694685-62694689
3 BSCL2 NM_032667.6(BSCL2):c.793C>T (p.Arg265Ter) SNV Pathogenic 143858 rs587777606 11:62458772-62458772 11:62691300-62691300
4 BSCL2 NM_032667.6(BSCL2):c.782del (p.Gly261fs) Deletion Likely pathogenic 930514 11:62458783-62458783 11:62691311-62691311
5 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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