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LFIT
MCID: LVR030
MIFTS: 34
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Liver Failure, Infantile, Transient (LFIT)
Categories:
Blood diseases, Bone diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Rare diseases, Respiratory diseases
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MalaCards integrated aliases for Liver Failure, Infantile, Transient:
Characteristics:Orphanet epidemiological data:58
acute infantile liver failure due to synthesis defect of mtdna-encoded proteins
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; OMIM®:57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive
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 HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Liver diseases Gastrointestinal diseases Respiratory diseases Bone diseases Nephrological diseases Blood diseases
ICD10:
33
Orphanet: 58
Rare hepatic diseases
Inborn errors of metabolism |
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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 05-Apr-2021)
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 fever-associated acute infantile liver failure syndrome and infantile liver failure syndrome 1, and has symptoms including vomiting and icterus. An important gene associated with Liver Failure, Infantile, Transient is TRMU (TRNA Mitochondrial 2-Thiouridylase). Affiliated tissues include liver, and related phenotypes are hepatomegaly and feeding difficulties in infancy Disease Ontology : 12 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. GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 217371 Definition A very rare mitochondrial respiratory chain deficiency characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia. UniProtKB/Swiss-Prot : 72 Liver failure, infantile, transient: 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. |
Diseases in the Liver Disease family:
Diseases related to Liver Failure, Infantile, Transient via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Liver Failure, Infantile, Transient:
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Human phenotypes related to Liver Failure, Infantile, Transient:31 (show all 15)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Apr-2021)Clinical features from OMIM®:613070 (Updated 05-Apr-2021)UMLS symptoms related to Liver Failure, Infantile, Transient:vomiting; icterus |
Interventional clinical trials:
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MalaCards organs/tissues related to Liver Failure, Infantile, Transient:40
Liver
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Articles related to Liver Failure, Infantile, Transient:(show all 15)
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Genes related to Liver Failure, Infantile, Transient (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Liver Failure, Infantile, Transient:6 (show top 50) (show all 106)
UniProtKB/Swiss-Prot genetic disease variations for Liver Failure, Infantile, Transient:72
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