NELABA
MCID: ENC050
MIFTS: 25

Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities (NELABA)

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain...

MalaCards integrated aliases for Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities:

Name: Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities 57 72 29 6
Lipoyltransferase 2 Deficiency 57 72
Nelaba 57 72
Lipt2d 57 72
Encephalopathy, Neonatal, Severe, with Lactic Acidosis and Brain Abnormalities 39
Lipoyltransferase 2 Deficiency; Lipt2d 57
Lipoyl Transferase 2 Deficiency 58

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
death in infancy in 2 sibs
biochemical abnormalities are variable
two sibs and 1 unrelated patient (patient a) have been reported (last curated september 2017)


HPO:

31
encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



Summaries for Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain...

OMIM® : 57 NELABA is a severe autosomal recessive metabolic disorder characterized by onset at birth of progressive encephalopathy associated with increased serum lactate. Affected individuals have little or no psychomotor development and show brain abnormalities, including cerebral atrophy, cysts, and white matter abnormalities. Some patients die in infancy (summary by Habarou et al., 2017). (617668) (Updated 20-May-2021)

MalaCards based summary : Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities, also known as lipoyltransferase 2 deficiency, is related to brugada syndrome 6 and brugada syndrome. An important gene associated with Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities is LIPT2 (Lipoyl(Octanoyl) Transferase 2). Affiliated tissues include brain, and related phenotypes are eeg abnormality and respiratory insufficiency

UniProtKB/Swiss-Prot : 72 Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities: An autosomal recessive disorder characterized by severe encephalopathy with neonatal onset, metabolic features including lactic acidosis, little or no psychomotor development, and brain abnormalities including cerebral atrophy, cysts, and white matter abnormalities.

Related Diseases for Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain...

Diseases related to Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 brugada syndrome 6 9.7 LIPT2 KCNE3
2 brugada syndrome 9.6 LIPT2 KCNE3

Symptoms & Phenotypes for Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain...

Human phenotypes related to Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 eeg abnormality 31 HP:0002353
2 respiratory insufficiency 31 HP:0002093
3 microcephaly 31 HP:0000252
4 absent speech 31 HP:0001344
5 cerebral cortical atrophy 31 HP:0002120
6 increased serum lactate 31 HP:0002151
7 dystonia 31 HP:0001332
8 profound global developmental delay 31 HP:0012736
9 encephalopathy 31 HP:0001298
10 lactic acidosis 31 HP:0003128
11 increased serum pyruvate 31 HP:0003542
12 feeding difficulties 31 HP:0011968
13 spastic tetraparesis 31 HP:0001285
14 hyperalaninemia 31 HP:0003348
15 delayed myelination 31 HP:0012448
16 renal cortical cysts 31 HP:0000803
17 periventricular cysts 31 HP:0007109
18 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
dystonia
encephalopathy
spastic tetraparesis
delayed myelination
more
Laboratory Abnormalities:
increased serum lactate
increased serum pyruvate
increased serum alanine
increased serum glycine
absence of protein-bound lipoic acid
more
Abdomen Gastrointestinal:
poor feeding

Head And Neck Head:
microcephaly (patient a)

Respiratory:
respiratory insufficiency

Metabolic Features:
lactic acidosis

Muscle Soft Tissue:
hypotonia, axial, severe

Clinical features from OMIM®:

617668 (Updated 20-May-2021)

Drugs & Therapeutics for Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain...

Search Clinical Trials , NIH Clinical Center for Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities

Genetic Tests for Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain...

Genetic tests related to Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities:

# Genetic test Affiliating Genes
1 Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities 29 LIPT2

Anatomical Context for Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain...

MalaCards organs/tissues related to Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities:

40
Brain

Publications for Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain...

Articles related to Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities:

# Title Authors PMID Year
1
Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy. 57 6
28757203 2017

Variations for Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain...

ClinVar genetic disease variations for Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LIPT2 NM_001144869.3(LIPT2):c.450dup (p.Lys151fs) Duplication Pathogenic 1033331 GRCh37: 11:74204298-74204299
GRCh38: 11:74493253-74493254
2 LIPT2 , LOC100287896 NM_001144869.3(LIPT2):c.314T>G (p.Leu105Arg) SNV Pathogenic/Likely pathogenic 438641 rs1190703859 GRCh37: 11:74204435-74204435
GRCh38: 11:74493390-74493390
3 LIPT2 NM_001144869.3(LIPT2):c.377T>G (p.Leu126Arg) SNV Pathogenic/Likely pathogenic 438639 rs753904927 GRCh37: 11:74204372-74204372
GRCh38: 11:74493327-74493327
4 LIPT2 , LOC100287896 NM_001144869.3(LIPT2):c.89T>C (p.Leu30Pro) SNV Likely pathogenic 438640 rs539962457 GRCh37: 11:74204660-74204660
GRCh38: 11:74493615-74493615
5 LIPT2 , KCNE3 NM_005472.5(KCNE3):c.10A>G (p.Thr4Ala) SNV Uncertain significance 126426 rs200856070 GRCh37: 11:74168599-74168599
GRCh38: 11:74457554-74457554
6 LIPT2 , LOC100287896 NM_001144869.3(LIPT2):c.167T>C (p.Val56Ala) SNV Uncertain significance 1031159 GRCh37: 11:74204582-74204582
GRCh38: 11:74493537-74493537
7 LIPT2 , LOC100287896 NM_001144869.3(LIPT2):c.284G>A (p.Gly95Asp) SNV Uncertain significance 1031160 GRCh37: 11:74204465-74204465
GRCh38: 11:74493420-74493420
8 LIPT2 , LOC100287896 NM_001144869.3(LIPT2):c.162G>A (p.Gly54=) SNV Uncertain significance 1033330 GRCh37: 11:74204587-74204587
GRCh38: 11:74493542-74493542
9 LIPT2 , KCNE3 NM_005472.5(KCNE3):c.248G>A (p.Arg83His) SNV Benign 5541 rs17215437 GRCh37: 11:74168361-74168361
GRCh38: 11:74457316-74457316

UniProtKB/Swiss-Prot genetic disease variations for Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities:

72
# Symbol AA change Variation ID SNP ID
1 LIPT2 p.Leu30Pro VAR_080037 rs539962457
2 LIPT2 p.Leu105Arg VAR_080038 rs119070385
3 LIPT2 p.Leu126Arg VAR_080039 rs753904927

Expression for Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain...

Search GEO for disease gene expression data for Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities.

Pathways for Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain...

GO Terms for Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain...

Sources for Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain...

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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