MCID: ENC050
MIFTS: 19

Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities

Categories: Genetic diseases, Rare diseases, Neuronal 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 75 6
Lipoyltransferase 2 Deficiency 57 75
Nelaba 57 75
Lipt2d 57 75
Encephalopathy, Neonatal, Severe, with Lactic Acidosis and Brain Abnormalities 40
Lipoyltransferase 2 Deficiency; Lipt2d 57
Lipoyl Transferase 2 Deficiency 59

Characteristics:

OMIM:

57
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)


Classifications:



External Ids:

OMIM 57 617668
Orphanet 59 ORPHA447795
MeSH 44 D020739

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)

MalaCards based summary : Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities, is also known as lipoyltransferase 2 deficiency. An important gene associated with Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities is LIPT2 (Lipoyl(Octanoyl) Transferase 2). Affiliated tissues include brain.

UniProtKB/Swiss-Prot : 75 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...

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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
dystonia
encephalopathy
spastic tetraparesis
delayed myelination
more
Metabolic Features:
lactic acidosis

Abdomen Gastrointestinal:
poor feeding

Head And Neck Head:
microcephaly (patient a)

Respiratory:
respiratory insufficiency

Laboratory Abnormalities:
increased serum pyruvate
increased serum alanine
increased serum glycine
absence of protein-bound lipoic acid
decreased activity of branched-chain ketoacid dehydrogenase (bckdh)
more
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:

41
Brain

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

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

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

75
# Symbol AA change Variation ID SNP ID
1 LIPT2 p.Leu30Pro VAR_080037 rs539962457
2 LIPT2 p.Leu105Arg VAR_080038
3 LIPT2 p.Leu126Arg VAR_080039 rs753904927

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LIPT2 NM_001144869.2(LIPT2): c.377T> G (p.Leu126Arg) single nucleotide variant Pathogenic rs753904927 GRCh38 Chromosome 11, 74493327: 74493327
2 LIPT2 NM_001144869.2(LIPT2): c.377T> G (p.Leu126Arg) single nucleotide variant Pathogenic rs753904927 GRCh37 Chromosome 11, 74204372: 74204372
3 LIPT2 NM_001144869.2(LIPT2): c.89T> C (p.Leu30Pro) single nucleotide variant Pathogenic rs539962457 GRCh38 Chromosome 11, 74493615: 74493615
4 LIPT2 NM_001144869.2(LIPT2): c.89T> C (p.Leu30Pro) single nucleotide variant Pathogenic rs539962457 GRCh37 Chromosome 11, 74204660: 74204660
5 LIPT2 NM_001144869.2(LIPT2): c.314T> G (p.Leu105Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 11, 74493390: 74493390
6 LIPT2 NM_001144869.2(LIPT2): c.314T> G (p.Leu105Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 74204435: 74204435

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 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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