ILFS2
MCID: INF138
MIFTS: 26

Infantile Liver Failure Syndrome 2 (ILFS2)

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

Aliases & Classifications for Infantile Liver Failure Syndrome 2

MalaCards integrated aliases for Infantile Liver Failure Syndrome 2:

Name: Infantile Liver Failure Syndrome 2 56 52 73 29 6 71
Ilfs2 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
infantile liver failure syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Infantile Liver Failure Syndrome 2

OMIM : 56 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 ilfs2, is related to interstitial lung and liver disease and neuroblastoma. An important gene associated with Infantile Liver Failure Syndrome 2 is NBAS (NBAS Subunit Of NRZ Tethering Complex). Affiliated tissues include liver, and related phenotypes are cardiomyopathy and seizure

UniProtKB/Swiss-Prot : 73 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 Infantile Liver Failure Syndrome 3
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 11.8
2 neuroblastoma 10.1

Symptoms & Phenotypes for Infantile Liver Failure Syndrome 2

Human phenotypes related to Infantile Liver Failure Syndrome 2:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 cardiomyopathy 31 very rare (1%) HP:0001638
2 seizure 31 very rare (1%) HP:0001250
3 vomiting 31 HP:0002013
4 hypoglycemia 31 HP:0001943
5 elevated hepatic transaminase 31 HP:0002910
6 jaundice 31 HP:0000952
7 hyperammonemia 31 HP:0001987
8 lethargy 31 HP:0001254
9 acute hepatic failure 31 HP:0006554
10 hepatic encephalopathy 31 HP:0002480
11 abnormality of the coagulation cascade 31 HP:0003256

Symptoms via clinical synopsis from OMIM:

56
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

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:

40
Liver

Publications for Infantile Liver Failure Syndrome 2

Articles related to Infantile Liver Failure Syndrome 2:

# Title Authors PMID Year
1
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy. 56 6
26073778 2015
2
Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients. 61
31761904 2020
3
Generation of an iPSC line from a patient with infantile liver failure syndrome 2 due to mutations in NBAS: DHMCi004-A. 61
30772683 2019
4
Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child. 61
30558828 2019
5
Novel neuroblastoma amplified sequence (NBAS) mutations in a Japanese boy with fever-triggered recurrent acute liver failure. 61
30622725 2019
6
Targeted next‑generation sequencing reveals two novel mutations of NBAS in a patient with infantile liver failure syndrome‑2. 61
29207168 2018

Variations for Infantile Liver Failure Syndrome 2

ClinVar genetic disease variations for Infantile Liver Failure Syndrome 2:

6 (show all 18) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NBAS NM_015909.4(NBAS):c.1749G>A (p.Trp583Ter)SNV Pathogenic 424842 rs770446752 2:15608634-15608634 2:15468510-15468510
2 NBAS NM_015909.4(NBAS):c.1501C>T (p.Arg501Ter)SNV Pathogenic 617878 rs759960319 2:15614289-15614289 2:15474165-15474165
3 NBAS NM_015909.4(NBAS):c.6840G>A (p.Thr2280=)SNV Pathogenic 617879 rs776597537 2:15319112-15319112 2:15178988-15178988
4 NBAS NM_015909.4(NBAS):c.558_560del (p.Ile187del)deletion Pathogenic 204580 rs796065037 2:15676629-15676631 2:15536505-15536507
5 NBAS NM_015909.4(NBAS):c.686dup (p.Ser230fs)duplication Pathogenic 204581 rs759315662 2:15674726-15674727 2:15534602-15534603
6 NBAS NM_015909.4(NBAS):c.2708T>G (p.Leu903Arg)SNV Pathogenic 204582 rs368196005 2:15557706-15557706 2:15417582-15417582
7 NBAS NM_015909.4(NBAS):c.603_605del (p.Leu202del)deletion Pathogenic 204583 rs796065038 2:15676584-15676586 2:15536460-15536462
8 NBAS NM_015909.4(NBAS):c.409C>T (p.Arg137Trp)SNV Pathogenic 218416 rs368085185 2:15679451-15679451 2:15539327-15539327
9 NBAS NM_015909.4(NBAS):c.3164T>C (p.Leu1055Pro)SNV Likely pathogenic 204584 rs796052121 2:15534444-15534444 2:15394320-15394320
10 NBAS NM_015909.4(NBAS):c.680A>C (p.His227Pro)SNV Likely pathogenic 424843 rs748880753 2:15674733-15674733 2:15534609-15534609
11 NBAS NM_015909.4(NBAS):c.5467A>T (p.Ile1823Phe)SNV Likely pathogenic 801649 2:15415865-15415865 2:15275741-15275741
12 NBAS NM_015909.4(NBAS):c.5465A>C (p.Asn1822Thr)SNV Likely pathogenic 801650 2:15415867-15415867 2:15275743-15275743
13 NBAS NM_015909.4(NBAS):c.335+1G>ASNV Likely pathogenic 801651 2:15693549-15693549 2:15553425-15553425
14 NBAS NM_015909.4(NBAS):c.2617C>T (p.Arg873Trp)SNV Likely pathogenic 869407 2:15557797-15557797 2:15417673-15417673
15 NBAS NM_015909.4(NBAS):c.2423+404G>CSNV Likely pathogenic 869408 2:15567431-15567431 2:15427307-15427307
16 NBAS NM_015909.4(NBAS):c.2411A>G (p.Glu804Gly)SNV Likely pathogenic 873540 2:15567847-15567847 2:15427723-15427723
17 NBAS NM_015909.4(NBAS):c.4721C>T (p.Ala1574Val)SNV Uncertain significance 264645 rs1553367826 2:15448416-15448416 2:15308292-15308292
18 NBAS NM_015909.4(NBAS):c.4913G>A (p.Arg1638His)SNV Benign/Likely benign 731487 2:15432775-15432775 2:15292651-15292651

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

73
# 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 rs108530794
4 NBAS p.Leu903Arg VAR_074651 rs368196005
5 NBAS p.Ile984Ser VAR_074652 rs140841721
6 NBAS p.Leu1055Pro VAR_074653 rs796052121

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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72 UMLS via Orphanet
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