MCID: INF138
MIFTS: 21

Infantile Liver Failure Syndrome 2

Categories: Genetic diseases, Rare diseases, Liver diseases, Metabolic diseases, Gastrointestinal diseases, Endocrine diseases

Aliases & Classifications for Infantile Liver Failure Syndrome 2

MalaCards integrated aliases for Infantile Liver Failure Syndrome 2:

Name: Infantile Liver Failure Syndrome 2 57 53 75 29 6 73
Fever-Associated Acute Infantile Liver Failure Syndrome 59 6
Ilfs2 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in the first years of life
recurrent episodes of liver failure during intercurrent infections
complete recovery during intervals


HPO:

32
infantile liver failure syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare hepatic diseases


Summaries for Infantile Liver Failure Syndrome 2

OMIM : 57 Infantile liver failure syndrome-2 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 is complete recovery between episodes with conservative treatment (summary by Haack et al., 2015). For a discussion of genetic heterogeneity of infantile liver failure syndrome, see ILFS1 (615438). (616483)

MalaCards based summary : Infantile Liver Failure Syndrome 2, also known as fever-associated acute infantile liver failure syndrome, is related to interstitial lung and liver disease. An important gene associated with Infantile Liver Failure Syndrome 2 is NBAS (Neuroblastoma Amplified Sequence). Affiliated tissues include liver, and related phenotypes are jaundice and seizures

UniProtKB/Swiss-Prot : 75 Infantile liver failure syndrome 2: A form of infantile liver failure syndrome, a life-threatening disorder of hepatic function that manifests with acute liver failure in the first few months of life. Clinical features include anemia, renal tubulopathy, developmental delay, seizures, failure to thrive, and liver steatosis and fibrosis.

Related Diseases for Infantile Liver Failure Syndrome 2

Diseases in the Liver Disease family:

Liver Failure, Infantile, Transient Infantile Liver Failure Syndrome 1
Infantile Liver Failure Syndrome 2 Acute Liver Failure

Diseases related to Infantile Liver Failure Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 interstitial lung and liver disease 11.5

Symptoms & Phenotypes for Infantile Liver Failure Syndrome 2

Symptoms via clinical synopsis from OMIM:

57
Abdomen Liver:
liver failure, acute, episodic

Skin Nails Hair Skin:
jaundice during episodes

Metabolic Features:
hypoglycemia during episodes

Laboratory Abnormalities:
elevated liver enzymes during episodes
hyperammonemia during episodes

Abdomen Gastrointestinal:
vomiting during episodes

Neurologic Central Nervous System:
lethargy during episodes

Hematology:
coagulopathy during episodes


Clinical features from OMIM:

616483

Human phenotypes related to Infantile Liver Failure Syndrome 2:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 jaundice 32 HP:0000952
2 seizures 32 very rare (1%) HP:0001250
3 lethargy 32 HP:0001254
4 cardiomyopathy 32 very rare (1%) HP:0001638
5 hypoglycemia 32 HP:0001943
6 hyperammonemia 32 HP:0001987
7 vomiting 32 HP:0002013
8 hepatic encephalopathy 32 HP:0002480
9 elevated hepatic transaminases 32 HP:0002910
10 abnormality of the coagulation cascade 32 HP:0003256
11 acute hepatic failure 32 HP:0006554

Drugs & Therapeutics for Infantile Liver Failure Syndrome 2

Search Clinical Trials , NIH Clinical Center for Infantile Liver Failure Syndrome 2

Genetic Tests for Infantile Liver Failure Syndrome 2

Genetic tests related to Infantile Liver Failure Syndrome 2:

# Genetic test Affiliating Genes
1 Infantile Liver Failure Syndrome 2 29 NBAS

Anatomical Context for Infantile Liver Failure Syndrome 2

MalaCards organs/tissues related to Infantile Liver Failure Syndrome 2:

41
Liver

Publications for Infantile Liver Failure Syndrome 2

Variations for Infantile Liver Failure Syndrome 2

UniProtKB/Swiss-Prot genetic disease variations for Infantile Liver Failure Syndrome 2:

75
# Symbol AA change Variation ID SNP ID
1 NBAS p.Pro348Ser VAR_074647
2 NBAS p.Pro777His VAR_074649
3 NBAS p.Val842Phe VAR_074650
4 NBAS p.Leu903Arg VAR_074651 rs368196005
5 NBAS p.Ile984Ser VAR_074652 rs140841721
6 NBAS p.Leu1055Pro VAR_074653 rs796052121

ClinVar genetic disease variations for Infantile Liver Failure Syndrome 2:

6
(show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 NBAS NM_015909.3(NBAS): c.558_560delGAT (p.Ile187del) deletion Pathogenic rs796065037 GRCh37 Chromosome 2, 15676629: 15676631
2 NBAS NM_015909.3(NBAS): c.558_560delGAT (p.Ile187del) deletion Pathogenic rs796065037 GRCh38 Chromosome 2, 15536505: 15536507
3 NBAS NM_015909.3(NBAS): c.686dupT (p.Ser230Glnfs) duplication Pathogenic rs759315662 GRCh37 Chromosome 2, 15674727: 15674727
4 NBAS NM_015909.3(NBAS): c.686dupT (p.Ser230Glnfs) duplication Pathogenic rs759315662 GRCh38 Chromosome 2, 15534603: 15534603
5 NBAS NM_015909.3(NBAS): c.2708T> G (p.Leu903Arg) single nucleotide variant Pathogenic rs368196005 GRCh37 Chromosome 2, 15557706: 15557706
6 NBAS NM_015909.3(NBAS): c.2708T> G (p.Leu903Arg) single nucleotide variant Pathogenic rs368196005 GRCh38 Chromosome 2, 15417582: 15417582
7 NBAS NM_015909.3(NBAS): c.603_605delCCT (p.Leu202del) deletion Pathogenic rs796065038 GRCh37 Chromosome 2, 15676584: 15676586
8 NBAS NM_015909.3(NBAS): c.603_605delCCT (p.Leu202del) deletion Pathogenic rs796065038 GRCh38 Chromosome 2, 15536460: 15536462
9 NBAS NM_015909.3(NBAS): c.3164T> C (p.Leu1055Pro) single nucleotide variant Pathogenic rs796052121 GRCh37 Chromosome 2, 15534444: 15534444
10 NBAS NM_015909.3(NBAS): c.3164T> C (p.Leu1055Pro) single nucleotide variant Pathogenic rs796052121 GRCh38 Chromosome 2, 15394320: 15394320
11 NBAS NM_015909.3(NBAS): c.409C> T (p.Arg137Trp) single nucleotide variant Pathogenic rs368085185 GRCh38 Chromosome 2, 15539327: 15539327
12 NBAS NM_015909.3(NBAS): c.409C> T (p.Arg137Trp) single nucleotide variant Pathogenic rs368085185 GRCh37 Chromosome 2, 15679451: 15679451
13 NBAS NM_015909.3(NBAS): c.4721C> T (p.Ala1574Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 15308292: 15308292
14 NBAS NM_015909.3(NBAS): c.4721C> T (p.Ala1574Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 15448416: 15448416
15 NBAS NM_015909.3(NBAS): c.1749G> A (p.Trp583Ter) single nucleotide variant Pathogenic rs770446752 GRCh37 Chromosome 2, 15608634: 15608634
16 NBAS NM_015909.3(NBAS): c.1749G> A (p.Trp583Ter) single nucleotide variant Pathogenic rs770446752 GRCh38 Chromosome 2, 15468510: 15468510
17 NBAS NM_015909.3(NBAS): c.680A> C (p.His227Pro) single nucleotide variant Pathogenic rs748880753 GRCh37 Chromosome 2, 15674733: 15674733
18 NBAS NM_015909.3(NBAS): c.680A> C (p.His227Pro) single nucleotide variant Pathogenic rs748880753 GRCh38 Chromosome 2, 15534609: 15534609
19 NBAS NM_015909.3(NBAS): c.2950delA (p.Ile984Leufs) deletion Pathogenic/Likely pathogenic rs776797592 GRCh37 Chromosome 2, 15542413: 15542413
20 NBAS NM_015909.3(NBAS): c.2950delA (p.Ile984Leufs) deletion Pathogenic/Likely pathogenic rs776797592 GRCh38 Chromosome 2, 15402289: 15402289
21 NBAS NM_015909.3(NBAS): c.1987C> T (p.Gln663Ter) single nucleotide variant Likely pathogenic rs761330483 GRCh37 Chromosome 2, 15607819: 15607819
22 NBAS NM_015909.3(NBAS): c.1987C> T (p.Gln663Ter) single nucleotide variant Likely pathogenic rs761330483 GRCh38 Chromosome 2, 15467695: 15467695

Expression for Infantile Liver Failure Syndrome 2

Search GEO for disease gene expression data for Infantile Liver Failure Syndrome 2.

Pathways for Infantile Liver Failure Syndrome 2

GO Terms for Infantile Liver Failure Syndrome 2

Sources for Infantile Liver Failure Syndrome 2

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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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