ILFS3
MCID: INF190
MIFTS: 21

Infantile Liver Failure Syndrome 3 (ILFS3)

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

Aliases & Classifications for Infantile Liver Failure Syndrome 3

MalaCards integrated aliases for Infantile Liver Failure Syndrome 3:

Name: Infantile Liver Failure Syndrome 3 57 73 6
Ilfs3 57 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy or first years of life
acute episodes of liver failure often triggered by infection or fever


HPO:

31
infantile liver failure syndrome 3:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset death in childhood


Classifications:



Summaries for Infantile Liver Failure Syndrome 3

OMIM® : 57 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) (Updated 05-Mar-2021)

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, and related phenotypes are splenomegaly and hepatomegaly

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

Human phenotypes related to Infantile Liver Failure Syndrome 3:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 31 very rare (1%) HP:0001744
2 hepatomegaly 31 very rare (1%) HP:0002240
3 beaking of vertebral bodies 31 very rare (1%) HP:0004568
4 hepatic steatosis 31 very rare (1%) HP:0001397
5 talipes equinovarus 31 very rare (1%) HP:0001762
6 platyspondyly 31 very rare (1%) HP:0000926
7 prolonged prothrombin time 31 very rare (1%) HP:0008151
8 hypoplastic vertebral bodies 31 very rare (1%) HP:0008479
9 abnormality of the epiphysis of the femoral head 31 very rare (1%) HP:0010574
10 abnormality of the acetabulum 31 very rare (1%) HP:0003170
11 hepatic bridging fibrosis 31 very rare (1%) HP:0012852
12 short stature 31 HP:0004322
13 elevated hepatic transaminase 31 HP:0002910
14 jaundice 31 HP:0000952
15 hyperammonemia 31 HP:0001987
16 acute hepatic failure 31 HP:0006554
17 hepatic encephalopathy 31 HP:0002480

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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. 57 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.1333+1G>A SNV Pathogenic 547947 rs375350359 7:105190934-105190934 7:105550487-105550487
2 RINT1 NM_021930.6(RINT1):c.1853_1858del (p.Val618_Lys619del) Deletion Pathogenic 547946 rs1554367227 7:105204358-105204363 7:105563911-105563916
3 RINT1 NM_021930.6(RINT1):c.1109T>C (p.Leu370Pro) SNV Pathogenic 599396 rs1562849964 7:105190709-105190709 7:105550262-105550262
4 RINT1 NM_021930.6(RINT1):c.1333+1G>T SNV Pathogenic 692227 rs375350359 7:105190934-105190934 7:105550487-105550487
5 RINT1 NM_021930.6(RINT1):c.1102G>A (p.Ala368Thr) SNV Pathogenic 692228 rs545894353 7:105190607-105190607 7:105550160-105550160
6 RINT1 NM_021930.6(RINT1):c.1285C>A (p.Leu429Ile) SNV Uncertain significance 982440 7:105190885-105190885 7:105550438-105550438

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 rs545894353
2 RINT1 p.Leu370Pro VAR_083239 rs156284996

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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