|
LFIT
MCID: LVR030
MIFTS: 40
|
Liver Failure, Infantile, Transient (LFIT)
Categories:
Blood diseases, Bone diseases, Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Oral diseases, Rare diseases, Respiratory diseases
|
|
|
|
||
MalaCards integrated aliases for Liver Failure, Infantile, Transient:
Characteristics:Inheritance:
Liver Failure, Infantile, Transient:
Autosomal recessive 57
Acute Infantile Liver Failure Due to Synthesis Defect of Mtdna-Encoded Proteins:
Autosomal recessive 58
Prevelance:
Acute Infantile Liver Failure Due to Synthesis Defect of Mtdna-Encoded Proteins:
<1/1000000 (Worldwide) 58
Age Of Onset:
Acute Infantile Liver Failure Due to Synthesis Defect of Mtdna-Encoded Proteins:
Infancy,Neonatal 58
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
onset usually at 2 to 6 months of age onset at day 1 of life has been reported clinical improvement after 2 to 3 weeks of supportive care liver functions return to normal after 3 to 4 months liver size returns to normal after 3 months to 3 years those who survive initial acute episode have no recurrence of hepatic involvement, but may have persistent hypotonia Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Liver diseases Gastrointestinal diseases Respiratory diseases Endocrine diseases Bone diseases Nephrological diseases Oral diseases Blood diseases Mental diseases
ICD10:
32
Orphanet: 58
Rare hepatic diseases
Inborn errors of metabolism |
|
OMIM®: 57 Acute infantile liver failure resulting from TRMU mutation is a transient disorder of hepatic function. In addition to elevated liver enzymes, jaundice, vomiting, coagulopathy, and hyperbilirubinemia, the presence of increased serum lactate is consistent with a defect in mitochondrial respiratory function. With supportive care, patients who survive the initial acute episode can recover and show normal development (Zeharia et al., 2009). See also transient infantile mitochondrial myopathy (MMIT; 500009), which is a similar disorder. A more severe, permanent disorder with some overlapping features is associated with mitochondrial DNA depletion (251880). See ILFS1 (615438) for information on syndromic infantile liver failure. (613070) (Updated 08-Dec-2022) MalaCards based summary: Liver Failure, Infantile, Transient, also known as acute infantile liver failure due to synthesis defect of mtdna-encoded proteins, is related to infantile liver failure syndrome and spinocerebellar ataxia, autosomal recessive 21, and has symptoms including vomiting and icterus. An important gene associated with Liver Failure, Infantile, Transient is TRMU (TRNA Mitochondrial 2-Thiouridylase), and among its related pathways/superpathways is tRNA-uridine 2-thiolation (mammalian mitochondria). Affiliated tissues include liver and skin, and related phenotypes are hepatomegaly and feeding difficulties in infancy GARD: 19 Acute infantile liver failure resulting from TRMU mutation is a transient disorder of hepatic function. In addition to elevated liver enzymes, jaundice, vomiting, coagulopathy, and hyperbilirubinemia, the presence of increased serum lactate is consistent with a defect in mitochondrial respiratory function. With supportive care, patients who survive the initial acute episode can recover and show normal development (Zeharia et al., 2009).See also transient infantile mitochondrial myopathy (MMIT; 500009), which is a similar disorder.A more severe, permanent disorder with some overlapping features is associated with mitochondrial DNA depletion (251880).See ILFS1 (615438) for information on syndromic infantile liver failure. Disease Ontology: 11 A liver disease that is characterized by elevated liver enzymes, jaundice, vomiting, coagulopathy, and hyperbilirubinemia, and the presence of increased serum lactate and that has material basis in homozygous or compound heterozygous mutation in the TRMU gene, which is involved in mitochondrial protein translation, on chromosome 22q13. UniProtKB/Swiss-Prot: 73 A transient disorder of hepatic function characterized by elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, increased serum lactate. Patients who survive the initial acute episode can recover, show normal development and have no recurrence. Orphanet: 58 A rare mitochondrial respiratory chain deficiency due to TRMU deficiency leading to mitochondrial tRNA synthesis defect and characterized clinically by transient, but life-threatening acute liver failure episodes. |
Human phenotypes related to Liver Failure, Infantile, Transient:30 (show all 21)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:613070 (Updated 08-Dec-2022)UMLS symptoms related to Liver Failure, Infantile, Transient:vomiting; icterus |
|
|
Organs/tissues related to Liver Failure, Infantile, Transient:
MalaCards :
Liver,
Skin
|
Articles related to Liver Failure, Infantile, Transient:(show all 25)
|
Genes related to Liver Failure, Infantile, Transient (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
|
ClinVar genetic disease variations for Liver Failure, Infantile, Transient:5 (show top 50) (show all 132)
UniProtKB/Swiss-Prot genetic disease variations for Liver Failure, Infantile, Transient:73
|
|
Search
GEO
for disease gene expression data for Liver Failure, Infantile, Transient.
|
Biological processes related to Liver Failure, Infantile, Transient according to GeneCards Suite gene sharing:
|
|