LIPT2 gene related symptoms and diseases
All the information presented here about the LIPT2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to LIPT2 gene
Symptoms // Phenotype | % Cases |
---|---|
Seizures | Uncommon - Between 30% and 50% cases |
Abnormality of the cerebral white matter | Uncommon - Between 30% and 50% cases |
Renal cortical cysts | Uncommon - Between 30% and 50% cases |
Hyperalaninemia | Uncommon - Between 30% and 50% cases |
Increased serum pyruvate | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with LIPT2 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Hyperglycinemia
- Progressive encephalopathy
- Spastic tetraparesis
- Tetraparesis
- Increased serum lactate
- Delayed myelination
- Lactic acidosis
- EEG abnormality
And 12 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to LIPT2 gene
Here you will find a list of rare diseases related to the LIPT2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES; NELABA
Alternate names
ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES; NELABA Is also known as lipt2d, lipoyltransferase 2 deficiency
Description
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).
Most common symptoms of ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES; NELABA
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
- Ventriculomegaly
More info about ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES; NELABA
SOURCES: OMIM
LIPOYL TRANSFERASE 2 DEFICIENCY
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