NELABA
MCID: ENC050
MIFTS: 24

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 56 73 6
Lipoyltransferase 2 Deficiency 56 73
Nelaba 56 73
Lipt2d 56 73
Encephalopathy, Neonatal, Severe, with Lactic Acidosis and Brain Abnormalities 39
Lipoyltransferase 2 Deficiency; Lipt2d 56
Lipoyl Transferase 2 Deficiency 58

Characteristics:

OMIM:

56
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 : 56 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)

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 microcephaly and eeg abnormality

UniProtKB/Swiss-Prot : 73 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 9.3 LIPT2 KCNE3
2 brugada syndrome 9.2 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 microcephaly 31 HP:0000252
2 eeg abnormality 31 HP:0002353
3 feeding difficulties 31 HP:0011968
4 absent speech 31 HP:0001344
5 respiratory insufficiency 31 HP:0002093
6 cerebral cortical atrophy 31 HP:0002120
7 increased serum lactate 31 HP:0002151
8 dystonia 31 HP:0001332
9 profound global developmental delay 31 HP:0012736
10 encephalopathy 31 HP:0001298
11 lactic acidosis 31 HP:0003128
12 increased serum pyruvate 31 HP:0003542
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 seizure 31 HP:0001250
18 periventricular cysts 31 HP:0007109

Symptoms via clinical synopsis from OMIM:

56
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

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...

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. 56 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 GRCh37 Pos GRCh38 Pos
1 LIPT2 NM_001144869.3(LIPT2):c.377T>G (p.Leu126Arg)SNV Pathogenic/Likely pathogenic 438639 rs753904927 11:74204372-74204372 11:74493327-74493327
2 LIPT2 NM_001144869.3(LIPT2):c.314T>G (p.Leu105Arg)SNV Pathogenic/Likely pathogenic 438641 rs1190703859 11:74204435-74204435 11:74493390-74493390
3 LIPT2 NM_001144869.3(LIPT2):c.89T>C (p.Leu30Pro)SNV Likely pathogenic 438640 rs539962457 11:74204660-74204660 11:74493615-74493615
4 KCNE3 , LIPT2 NM_005472.4(KCNE3):c.248G>A (p.Arg83His)SNV Conflicting interpretations of pathogenicity 5541 rs17215437 11:74168361-74168361 11:74457316-74457316
5 KCNE3 , LIPT2 NM_005472.4(KCNE3):c.10A>G (p.Thr4Ala)SNV Conflicting interpretations of pathogenicity 126426 rs200856070 11:74168599-74168599 11:74457554-74457554

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

73
# 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...

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10 dbSNP
11 DGIdb
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57 OMIM via Orphanet
61 PubMed
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68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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