ILFS3
MCID: INF190
MIFTS: 18

Infantile Liver Failure Syndrome 3 (ILFS3)

Categories: Blood diseases, Bone diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Infantile Liver Failure Syndrome 3

MalaCards integrated aliases for Infantile Liver Failure Syndrome 3:

Name: Infantile Liver Failure Syndrome 3 56 73 6
Ilfs3 56 73

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:



External Ids:

OMIM 56 618641
OMIM Phenotypic Series 56 PS615438
MeSH 43 D017093
MedGen 41 CN262533

Summaries for Infantile Liver Failure Syndrome 3

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.

Related Diseases for Infantile Liver Failure Syndrome 3

Symptoms & Phenotypes for Infantile Liver Failure Syndrome 3

Symptoms via clinical synopsis from OMIM:

56
Abdomen Liver:
hepatomegaly
bridging fibrosis
liver, failure, acute, episodic
steatosis seen on liver biopsy
increased kupffer cells
more
Skeletal Spine:
platyspondyly
abnormal vertebrae
hypoplastic vertebrae
beaked vertebrae

Skeletal Limbs:
acetabular abnormalities
abnormal femoral head epiphysis

Hematology:
coagulopathy during acute episodes

Growth Height:
short stature

Skin Nails Hair Skin:
jaundice (in some patients)

Neurologic Central Nervous System:
hepatic encephalopathy during acute episodes (in some patients)

Laboratory Abnormalities:
abnormal liver enzymes during acute episode
liver enzymes may return to normal between episodes
hyperammonemia during acute episodes

Clinical features from OMIM:

618641

Drugs & Therapeutics for Infantile Liver Failure Syndrome 3

Search Clinical Trials , NIH Clinical Center for Infantile Liver Failure Syndrome 3

Genetic Tests for Infantile Liver Failure Syndrome 3

Anatomical Context for Infantile Liver Failure Syndrome 3

MalaCards organs/tissues related to Infantile Liver Failure Syndrome 3:

40
Liver

Publications for Infantile Liver Failure Syndrome 3

Articles related to Infantile Liver Failure Syndrome 3:

# Title Authors PMID Year
1
RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities. 56 6
31204009 2019

Variations for Infantile Liver Failure Syndrome 3

ClinVar genetic disease variations for Infantile Liver Failure Syndrome 3:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RINT1 NM_021930.6(RINT1):c.1109T>C (p.Leu370Pro)SNV Pathogenic 599396 rs1562849964 7:105190709-105190709 7:105550262-105550262
2 RINT1 NM_021930.6(RINT1):c.1333+1G>TSNV Pathogenic 692227 7:105190934-105190934 7:105550487-105550487
3 RINT1 NM_021930.6(RINT1):c.1102G>A (p.Ala368Thr)SNV Pathogenic 692228 7:105190607-105190607 7:105550160-105550160
4 RINT1 NM_021930.6(RINT1):c.1333+1G>ASNV Uncertain significance 547947 rs375350359 7:105190934-105190934 7:105550487-105550487
5 RINT1 NM_021930.6(RINT1):c.1853_1858del (p.Val618_Lys619del)deletion Uncertain significance 547946 rs1554367227 7:105204358-105204363 7:105563911-105563916

UniProtKB/Swiss-Prot genetic disease variations for Infantile Liver Failure Syndrome 3:

73
# Symbol AA change Variation ID SNP ID
1 RINT1 p.Ala368Thr VAR_083238
2 RINT1 p.Leu370Pro VAR_083239

Expression for Infantile Liver Failure Syndrome 3

Search GEO for disease gene expression data for Infantile Liver Failure Syndrome 3.

Pathways for Infantile Liver Failure Syndrome 3

GO Terms for Infantile Liver Failure Syndrome 3

Sources for Infantile Liver Failure Syndrome 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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