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 tremor. An important gene associated with Encephalopathy, Progressive, with or Without Lipodystrophy is BSCL2 (BSCL2 Lipid Droplet Biogenesis Associated, Seipin). The drugs Sargramostim and Sorbitol 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 15)
# Related Disease Score Top Affiliating Genes
1 biliary atresia 10.4
2 liver disease 10.4
3 back pain 10.4
4 encephalopathy 10.3
5 spondylolisthesis 10.1
6 hepatopulmonary syndrome 10.1
7 cholangitis 10.1
8 foot drop 10.1
9 hypertonia 10.1
10 acute liver failure 10.1
11 spastic paraplegia 17 9.6 HNRNPUL2-BSCL2 BSCL2
12 berardinelli-seip congenital lipodystrophy 9.5 HNRNPUL2-BSCL2 BSCL2
13 congenital generalized lipodystrophy 9.5 HNRNPUL2-BSCL2 BSCL2
14 hereditary spastic paraplegia 9.4 HNRNPUL2-BSCL2 BSCL2
15 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 42)
# 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 reduced subcutaneous adipose tissue 58 31 hallmark (90%) Very frequent (99-80%) HP:0003758
6 generalized lipodystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0009064
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 tremor 58 31 frequent (33%) Frequent (79-30%) HP:0001337
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 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 myoclonus 58 31 frequent (33%) Frequent (79-30%) HP:0001336
15 hypertriglyceridemia 58 31 occasional (7.5%) Frequent (79-30%) HP:0002155
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 hyperactivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000752
23 acanthosis nigricans 58 31 occasional (7.5%) Occasional (29-5%) HP:0000956
24 generalized hirsutism 58 31 occasional (7.5%) Occasional (29-5%) HP:0002230
25 cirrhosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001394
26 gait ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002066
27 respiratory failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0002878
28 cerebral atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002059
29 neuronal loss in central nervous system 58 31 occasional (7.5%) Occasional (29-5%) HP:0002529
30 tetraparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002273
31 caudate atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002340
32 limb dystonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002451
33 status epilepticus 58 31 very rare (1%) Very rare (<4-1%) HP:0002133
34 seizures 58 31 Frequent (79-30%) HP:0001250
35 ataxia 58 31 Frequent (79-30%) HP:0001251
36 hyperreflexia 58 31 Frequent (79-30%) HP:0001347
37 developmental regression 31 HP:0002376
38 cognitive impairment 58 Very frequent (99-80%)
39 dystonia 31 HP:0001332
40 mental deterioration 31 HP:0001268
41 encephalopathy 31 HP:0001298
42 loss of speech 31 HP:0002371

Symptoms via clinical synopsis from OMIM:

56
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

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

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sargramostim Approved, Investigational Phase 3 83869-56-1, 123774-72-1
2
Sorbitol Approved Phase 3 50-70-4 5780
3
Lenograstim Approved, Investigational Phase 3 135968-09-1
4 Liver Extracts Phase 3
5 Adjuvants, Immunologic Phase 3
6 Immunologic Factors Phase 3
7 Anesthetics
8
s 1 (combination)
9 Calamus

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 Biliary Atresia Study in Infants and Children (BASIC) Recruiting NCT00345553
3 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

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, Brain, Testes, Bone, Colon

Publications for Encephalopathy, Progressive, with or Without Lipodystrophy

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

(show top 50) (show all 436)
# 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
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
4
Impact of the Pediatric End-Stage Liver Disease (PELD) growth failure thresholds on mortality among pediatric liver transplant candidates. 61
31370108 2019
5
Percutaneous endoscopic lumbar discectomy for lumbar disc herniation as day surgery - short-term clinical results of 235 consecutive cases. 61
31804313 2019
6
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
7
A New Percutaneous Endoscopic Instrument for Far-migrated Disk Herniation: A Retrospective Single-Institution Study. 61
31075812 2019
8
Complication rates of different discectomy techniques for the treatment of lumbar disc herniation: a network meta-analysis. 61
31529215 2019
9
Ultrasound-guided transforaminal percutaneous endoscopic lumbar discectomy: a new guidance method that reduces radiation doses. 61
31087164 2019
10
Percutaneous Endoscopic Lumbar Discectomy for Lumbar Disc Herniation with Modic Changes via a Transforaminal Approach: A Retrospective Study. 61
31775413 2019
11
Predicting chance of liver transplantation for pediatric wait-list candidates. 61
31313464 2019
12
Determining the optimal timing of liver transplant for pediatric patients after Kasai portoenterostomy based on disease severity scores. 61
31759650 2019
13
Society of pediatric liver transplantation: Current registry status 2011-2018. 61
31680409 2019
14
Diagnostic value of soluble programmed cell death protein-1 in type-1 autoimmune hepatitis in Egyptian children. 61
31762332 2019
15
Living Donor Liver Transplantation in Children: Perioperative Risk Factors and a Nomogram for Prediction of Survival. 61
31815909 2019
16
Factors Associated With Growth After Deceased and Live Donor Pediatric Liver Transplantation. 61
31711584 2019
17
An unexpected intradural lumbar disc herniation found during transforaminal endoscopic surgery. 61
31786381 2019
18
Minimally invasive surgical techniques for the therapy of far lateral disc herniation in middle-aged and elderly patients. 61
30686040 2019
19
The Long-term Reoperation Rate Following Surgery for Lumbar Herniated Intervertebral Disc Disease: A Nationwide Sample Cohort Study With a 10-year Follow-up. 61
30973508 2019
20
The effects of iron and zinc status on prognosis in pediatric Wilson's disease. 61
31345362 2019
21
Scoring Systems and Postoperative Outcomes in Pediatric Liver Transplantation. 61
31280887 2019
22
Learning Curve for Percutaneous Endoscopic Lumbar Diskectomy in Bi-needle Technique Using Cumulative Summation Test for Learning Curve. 61
31158541 2019
23
End-Stage Liver Disease Models and Outcomes in Pediatric Patients Supported With Short-Term Continuous-Flow Ventricular Assist Devices. 61
31567409 2019
24
[Clinical observation of the low back pain and posterior thigh pain in the early stage after percutaneous endoscopic lumbar discectomy]. 61
31434425 2019
25
Revision Surgery after Percutaneous Endoscopic Transforaminal Discectomy Compared with Primary Open Surgery for Symptomatic Lumbar Degenerative Disease. 61
31402585 2019
26
Radiation Exposure and Operation Time in Percutaneous Endoscopic Lumbar Discectomy Using Fluoroscopy-Based Navigation System. 61
30802551 2019
27
Evaluation of Dimensions of Kambin's Triangle to Calculate Maximum Permissible Cannula Diameter for Percutaneous Endoscopic Lumbar Discectomy : A 3-Dimensional Magnetic Resonance Imaging Based Study. 61
31079448 2019
28
The Causes and Outcomes of Early Relaparotomy Following Pediatric Living Donor Liver Transplantation. 61
30865366 2019
29
Predictors for Poor Outcomes After Percutaneous Endoscopic Lumbar Discectomy: A Retrospective Study of 241 Patients. 61
30825632 2019
30
Ultrasound guidance for transforaminal percutaneous endoscopic lumbar discectomy may prevent radiation exposure: A case report. 61
31183348 2019
31
Changes in the Flexion-Relaxation Response After Percutaneous Endoscopic Lumbar Discectomy in Patients with Disc Herniation. 61
30776518 2019
32
Cystic fibrosis and portal hypertension: Distal splenorenal shunt can prevent the need for future liver transplant. 61
30792095 2019
33
Celia's encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant. 61
30903322 2019
34
Trends in transfusion practice over 20 years in paediatric liver transplant programme. 61
30900267 2019
35
Small incision discectomy for lumbar disc herniation in 98 patients with 5-year follow-up: A retrospective case series study. 61
31083228 2019
36
Retrospective study of the interlaminar approach for percutaneous endoscopic lumbar discectomy with the guidance of pre-operative magnetic resonance neurography. 61
31157266 2019
37
A Cost-utility Analysis of Percutaneous Endoscopic Lumbar Discectomy for L5-S1 Lumbar Disc Herniation: Transforaminal versus Interlaminar. 61
30312274 2019
38
Comparison of percutaneous endoscopic lumbar discectomy versus microendoscopic discectomy for the treatment of lumbar disc herniation: a meta-analysis. 61
30547214 2019
39
Extradiscal Epiduroscopic Percutaneous Endoscopic Discectomy for Upper Lumbar Disc Herniation A Technical Note. 61
30531356 2019
40
Treatment for lumbar spinal stenosis in elderly patients using percutaneous endoscopic lumbar discectomy combined with postoperative three-dimensional traction. 61
30916589 2019
41
Intraoperative Disc Prolapse During Percutaneous Endoscopic Lumbar Discectomy. 61
30529530 2019
42
Clinical Consequences of Cardiomyopathy in Children With Biliary Atresia Requiring Liver Transplantation. 61
30076624 2019
43
Percutaneous transforaminal endoscopic decompression in the treatment of spinal metastases: A case report. 61
30882663 2019
44
A Pilot Study of Percutaneous Interlaminar Endoscopic Lumbar Sequestrectomy: A Modern Strategy to Tackle Medically-Refractory Radiculopathies and Restore Spinal Function. 61
30943714 2019
45
Percutaneous Endoscopic Lumbar Discectomy in Treating Calcified Lumbar Intervertebral Disc Herniation. 61
30465964 2019
46
Percutaneous endoscopic lumbar discectomy and microsurgical laminotomy : A prospective, randomized controlled trial of patients with lumbar disc herniation and lateral recess stenosis. 61
30076437 2019
47
Should more donation after cardiac death livers be used in pediatric transplantation? 61
30447034 2019
48
Lessons learnt from living donor liver transplantation with ABO-incompatibility: A single-centre experience from southern India. 61
30848450 2019
49
Persistence of Sarcopenia After Pediatric Liver Transplantation Is Associated With Poorer Growth and Recurrent Hospital Admissions. 61
30035306 2019
50
Neurological Complications associated with Pediatric Liver Transplant in Namazi Hospital: One-Year Follow-Up. 61
30891167 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 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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