ILFS3
MCID: INF190
MIFTS: 18
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Infantile Liver Failure Syndrome 3 (ILFS3)
Categories:
Blood diseases, Bone diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Rare diseases
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MalaCards integrated aliases for Infantile Liver Failure Syndrome 3:Characteristics:OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
onset in infancy or first years of life acute episodes of liver failure often triggered by infection or fever Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Bone diseases Liver diseases Gastrointestinal diseases Nephrological diseases Blood diseases |
OMIM :
56
Infantile liver failure syndrome-3 is an autosomal recessive disorder characterized by recurrent episodes of acute liver failure during intercurrent febrile illness. Patients first present in infancy or early childhood, and there usually is complete recovery between episodes with conservative treatment. Affected individuals also have skeletal anomalies of the vertebral bodies and femoral heads (summary by Cousin et al., 2019).
For a discussion of genetic heterogeneity of infantile liver failure syndrome, see ILFS1 (615438). (618641)
MalaCards based summary : Infantile Liver Failure Syndrome 3, is also known as ilfs3. An important gene associated with Infantile Liver Failure Syndrome 3 is RINT1 (RAD50 Interactor 1). Affiliated tissues include liver. UniProtKB/Swiss-Prot : 73 Infantile liver failure syndrome 3: A form of infantile liver failure syndrome, a life-threatening disorder of hepatic function that manifests with acute liver failure in the first months or years of life. ILFS3 is an autosomal recessive form characterized by recurrent episodes of acute liver failure often triggered by infection or fever. Affected individuals also have skeletal anomalies of the vertebral bodies and femoral heads. |
Diseases in the Liver Disease family:
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Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:618641 |
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MalaCards organs/tissues related to Infantile Liver Failure Syndrome 3:40
Liver
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Articles related to Infantile Liver Failure Syndrome 3:
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ClinVar genetic disease variations for Infantile Liver Failure Syndrome 3:6
UniProtKB/Swiss-Prot genetic disease variations for Infantile Liver Failure Syndrome 3:73
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Search
GEO
for disease gene expression data for Infantile Liver Failure Syndrome 3.
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