|
NELABA
MCID: ENC050
MIFTS: 21
|
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:
Characteristics:OMIM:58
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:33
encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities:
Onset and clinical course congenital onset Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases |
|
OMIM
:
58
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, and related phenotypes are seizures and eeg abnormality UniProtKB/Swiss-Prot : 76 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. |
|
|
Symptoms & Phenotypes for Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain...
Human phenotypes related to Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities:33 (show all 14)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:617668 |
|
|
MalaCards organs/tissues related to Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities:42
Brain
|
Genes related to Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
|
UniProtKB/Swiss-Prot genetic disease variations for Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities:76
ClinVar genetic disease variations for Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities:6
|
|
Search
GEO
for disease gene expression data for Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities.
|
|
|
|