Infantile Liver Failure Syndrome 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Liver diseases Gastrointestinal diseases Bone diseases Nephrological diseases Blood diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 616483

OMIM Phenotypic Series ⁵⁶ PS615438

MeSH ⁴³ D017093

MedGen ⁴¹ C3809651 CN232144

UMLS ⁷¹ C3809651

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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.

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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

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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

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Drugs & Therapeutics for Infantile Liver Failure Syndrome 2

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

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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

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Anatomical Context for Infantile Liver Failure Syndrome 2

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

⁴⁰

Liver

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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	Haack TB...Prokisch H	26073778	2015
2	Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients. ⁶¹	Staufner C...Lenz D	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	Lenz D...Jung-Klawitter S	30772683	2019
4	Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child. ⁶¹	Rius R...Christodoulou J	30558828	2019
5	Novel neuroblastoma amplified sequence (NBAS) mutations in a Japanese boy with fever-triggered recurrent acute liver failure. ⁶¹	Ono S...Ouchi K	30622725	2019
6	Targeted next‑generation sequencing reveals two novel mutations of NBAS in a patient with infantile liver failure syndrome‑2. ⁶¹	Wang J...Lu Z	29207168	2018

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Genes for Infantile Liver Failure Syndrome 2

Genes related to Infantile Liver Failure Syndrome 2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	NBAS	NBAS Subunit Of NRZ Tethering Complex	Protein Coding	1318.97	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	26073778

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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>A	SNV	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>C	SNV	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

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Expression for Infantile Liver Failure Syndrome 2

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

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Pathways for Infantile Liver Failure Syndrome 2

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GO Terms for Infantile Liver Failure Syndrome 2

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Infantile Liver Failure Syndrome 2 (ILFS2)

Aliases & Classifications for Infantile Liver Failure Syndrome 2

MalaCards integrated aliases for Infantile Liver Failure Syndrome 2:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Infantile Liver Failure Syndrome 2

Related Diseases for Infantile Liver Failure Syndrome 2

Diseases in the Liver Disease family:

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

Symptoms & Phenotypes for Infantile Liver Failure Syndrome 2

Human phenotypes related to Infantile Liver Failure Syndrome 2:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Infantile Liver Failure Syndrome 2

Genetic Tests for Infantile Liver Failure Syndrome 2

Genetic tests related to Infantile Liver Failure Syndrome 2:

Anatomical Context for Infantile Liver Failure Syndrome 2

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

Publications for Infantile Liver Failure Syndrome 2

Articles related to Infantile Liver Failure Syndrome 2:

Genes for Infantile Liver Failure Syndrome 2

Genes related to Infantile Liver Failure Syndrome 2 (1 elite genes):

Variations for Infantile Liver Failure Syndrome 2

ClinVar genetic disease variations for Infantile Liver Failure Syndrome 2:

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

Expression 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