MCID: ENC038
MIFTS: 27

Encephalopathy, Progressive, with or Without Lipodystrophy

Categories: Genetic diseases, Neuronal diseases, Skin diseases, Endocrine diseases, Rare 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 encephalopathy and aging, and has symptoms including ataxia, muscle spasticity and myoclonus. An important gene associated with Encephalopathy, Progressive, with or Without Lipodystrophy is BSCL2 (BSCL2, Seipin Lipid Droplet Biogenesis Associated). Affiliated tissues include 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 encephalopathy 10.0
2 aging 9.9
3 biliary atresia 9.9
4 foot drop 9.9
5 spastic paraplegia 17 8.9 BSCL2 HNRNPUL2-BSCL2
6 berardinelli-seip congenital lipodystrophy 8.5 BSCL2 HNRNPUL2-BSCL2 LRRN4CL

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 42)
# 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 abnormal pyramidal signs 59 32 frequent (33%) Frequent (79-30%) HP:0007256
9 coarse facial features 59 32 frequent (33%) Frequent (79-30%) HP:0000280
10 hepatomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002240
11 delayed speech and language development 59 32 frequent (33%) Frequent (79-30%) HP:0000750
12 myopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003198
13 hypertriglyceridemia 59 32 occasional (7.5%) Frequent (79-30%) HP:0002155
14 acanthosis nigricans 59 32 occasional (7.5%) Occasional (29-5%) HP:0000956
15 generalized hirsutism 59 32 occasional (7.5%) Occasional (29-5%) HP:0002230
16 myoclonus 59 32 frequent (33%) Frequent (79-30%) HP:0001336
17 progressive psychomotor deterioration 59 32 hallmark (90%) Very frequent (99-80%) HP:0007272
18 hepatic steatosis 59 32 frequent (33%) Frequent (79-30%) HP:0001397
19 hyperinsulinemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000842
20 cirrhosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001394
21 gait ataxia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002066
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 status epilepticus 59 32 very rare (1%) Very rare (<4-1%) HP:0002133
27 cerebral atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002059
28 insulin resistance 59 32 hallmark (90%) Very frequent (99-80%) HP:0000855
29 tetraparesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002273
30 neuronal loss in central nervous system 59 32 occasional (7.5%) Occasional (29-5%) HP:0002529
31 generalized lipodystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0009064
32 reduced subcutaneous adipose tissue 59 32 hallmark (90%) Very frequent (99-80%) HP:0003758
33 limb dystonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002451
34 reduced intraabdominal adipose tissue 59 32 hallmark (90%) Very frequent (99-80%) HP:0025128
35 poor motor coordination 59 32 frequent (33%) Frequent (79-30%) HP:0002275
36 caudate atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002340
37 developmental regression 32 HP:0002376
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

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


ataxia, muscle spasticity, myoclonus, seizures, tremor, 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 29 BSCL2

Anatomical Context for Encephalopathy, Progressive, with or Without Lipodystrophy

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

41
Skin

Publications for Encephalopathy, Progressive, with or Without Lipodystrophy

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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