ILFS2
MCID: INF138
MIFTS: 29

Infantile Liver Failure Syndrome 2 (ILFS2)

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 2

MalaCards integrated aliases for Infantile Liver Failure Syndrome 2:

Name: Infantile Liver Failure Syndrome 2 57 20 72 29 6 70
Ilfs2 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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
Onset and clinical course infantile onset


Classifications:



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) (Updated 05-Apr-2021)

MalaCards based summary : Infantile Liver Failure Syndrome 2, also known as ilfs2, is related to interstitial lung and liver disease and infantile liver failure syndrome. An important gene associated with Infantile Liver Failure Syndrome 2 is NBAS (NBAS Subunit Of NRZ Tethering Complex). Affiliated tissues include liver and retina, and related phenotypes are cardiomyopathy and seizure

UniProtKB/Swiss-Prot : 72 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
Infantile Liver Failure Syndrome 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 11.6
2 infantile liver failure syndrome 10.2
3 liver disease 10.2
4 neuroblastoma 10.2

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 prolonged prothrombin time 31 HP:0008151
10 acute hepatic failure 31 HP:0006554
11 hepatic encephalopathy 31 HP:0002480

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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, Retina

Publications for Infantile Liver Failure Syndrome 2

Articles related to Infantile Liver Failure Syndrome 2:

(show all 13)
# Title Authors PMID Year
1
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy. 6 57
26073778 2015
2
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease. 6
32313153 2020
3
Recurrent elevated liver transaminases and acute liver failure in two siblings with novel bi-allelic mutations of NBAS. 6
28576691 2017
4
NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina. 6
26286438 2015
5
Characterization of a complex phenotype (fever-dependent recurrent acute liver failure and osteogenesis imperfecta) due to NBAS and P4HB variants. 61
33707149 2021
6
A 34-year-old Japanese patient exhibiting NBAS deficiency with a novel mutation and extended phenotypic variation. 61
32805445 2020
7
NBAS disease: 14 new patients, a recurrent mutation, and genotype-phenotype correlation among 24 Chinese patients. 61
32812336 2020
8
Infantile fever-triggered acute liver failure caused by novel neuroblastoma amplified sequence mutations: a case report. 61
32957979 2020
9
Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients. 61
31761904 2020
10
Generation of an iPSC line from a patient with infantile liver failure syndrome 2 due to mutations in NBAS: DHMCi004-A. 61
30772683 2019
11
Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child. 61
30558828 2019
12
Novel neuroblastoma amplified sequence (NBAS) mutations in a Japanese boy with fever-triggered recurrent acute liver failure. 61
30622725 2019
13
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 25)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NBAS NM_015909.4(NBAS):c.558_560del (p.Ile187del) Deletion Pathogenic 204580 rs796065037 GRCh37: 2:15676629-15676631
GRCh38: 2:15536505-15536507
2 NBAS NM_015909.4(NBAS):c.2708T>G (p.Leu903Arg) SNV Pathogenic 204582 rs368196005 GRCh37: 2:15557706-15557706
GRCh38: 2:15417582-15417582
3 NBAS NM_015909.4(NBAS):c.603_605del (p.Leu202del) Deletion Pathogenic 204583 rs796065038 GRCh37: 2:15676584-15676586
GRCh38: 2:15536460-15536462
4 NBAS NM_015909.4(NBAS):c.3164T>C (p.Leu1055Pro) SNV Pathogenic 204584 rs796052121 GRCh37: 2:15534444-15534444
GRCh38: 2:15394320-15394320
5 NBAS NM_015909.4(NBAS):c.1501C>T (p.Arg501Ter) SNV Pathogenic 617878 rs759960319 GRCh37: 2:15614289-15614289
GRCh38: 2:15474165-15474165
6 NBAS NM_015909.4(NBAS):c.6840G>A (p.Thr2280=) SNV Pathogenic 617879 rs776597537 GRCh37: 2:15319112-15319112
GRCh38: 2:15178988-15178988
7 NBAS NM_015909.4(NBAS):c.1749G>A (p.Trp583Ter) SNV Pathogenic 424842 rs770446752 GRCh37: 2:15608634-15608634
GRCh38: 2:15468510-15468510
8 NBAS NM_015909.4(NBAS):c.6433-2A>G SNV Pathogenic 975151 GRCh37: 2:15330529-15330529
GRCh38: 2:15190405-15190405
9 NBAS NM_015909.4(NBAS):c.686dup (p.Ser230fs) Duplication Pathogenic 204581 rs759315662 GRCh37: 2:15674726-15674727
GRCh38: 2:15534602-15534603
10 NBAS NM_015909.4(NBAS):c.5262del (p.Phe1754fs) Deletion Pathogenic 1032709 GRCh37: 2:15417102-15417102
GRCh38: 2:15276978-15276978
11 NBAS NM_015909.4(NBAS):c.1741C>T (p.Arg581Ter) SNV Likely pathogenic 976858 GRCh37: 2:15608642-15608642
GRCh38: 2:15468518-15468518
12 NBAS NM_015909.4(NBAS):c.335+1G>A SNV Likely pathogenic 801651 rs1573008071 GRCh37: 2:15693549-15693549
GRCh38: 2:15553425-15553425
13 NBAS NM_015909.4(NBAS):c.2617C>T (p.Arg873Trp) SNV Likely pathogenic 869407 GRCh37: 2:15557797-15557797
GRCh38: 2:15417673-15417673
14 NBAS NM_015909.4(NBAS):c.2423+404G>C SNV Likely pathogenic 869408 GRCh37: 2:15567431-15567431
GRCh38: 2:15427307-15427307
15 NBAS NM_015909.4(NBAS):c.2411A>G (p.Glu804Gly) SNV Likely pathogenic 873540 GRCh37: 2:15567847-15567847
GRCh38: 2:15427723-15427723
16 NBAS NM_015909.4(NBAS):c.5467A>T (p.Ile1823Phe) SNV Likely pathogenic 801649 rs201084909 GRCh37: 2:15415865-15415865
GRCh38: 2:15275741-15275741
17 NBAS NM_015909.4(NBAS):c.5465A>C (p.Asn1822Thr) SNV Likely pathogenic 801650 rs199717686 GRCh37: 2:15415867-15415867
GRCh38: 2:15275743-15275743
18 NBAS NM_015909.4(NBAS):c.680A>C (p.His227Pro) SNV Likely pathogenic 424843 rs748880753 GRCh37: 2:15674733-15674733
GRCh38: 2:15534609-15534609
19 NBAS NM_015909.4(NBAS):c.409C>T (p.Arg137Trp) SNV Conflicting interpretations of pathogenicity 218416 rs368085185 GRCh37: 2:15679451-15679451
GRCh38: 2:15539327-15539327
20 NBAS NM_015909.4(NBAS):c.270G>C (p.Trp90Cys) SNV Uncertain significance 1031942 GRCh37: 2:15694202-15694202
GRCh38: 2:15554078-15554078
21 NBAS NM_015909.4(NBAS):c.4280C>T (p.Ala1427Val) SNV Uncertain significance 1032708 GRCh37: 2:15470789-15470789
GRCh38: 2:15330665-15330665
22 NBAS NM_015909.4(NBAS):c.6237-10T>C SNV Uncertain significance 1032710 GRCh37: 2:15359102-15359102
GRCh38: 2:15218978-15218978
23 NBAS NM_015909.4(NBAS):c.6970C>T (p.Arg2324Cys) SNV Uncertain significance 1032711 GRCh37: 2:15307318-15307318
GRCh38: 2:15167194-15167194
24 NBAS NM_015909.4(NBAS):c.4721C>T (p.Ala1574Val) SNV Uncertain significance 264645 rs1553367826 GRCh37: 2:15448416-15448416
GRCh38: 2:15308292-15308292
25 NBAS NM_015909.4(NBAS):c.4913G>A (p.Arg1638His) SNV Likely benign 731487 rs146449593 GRCh37: 2:15432775-15432775
GRCh38: 2:15292651-15292651

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

72
# 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

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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