Infantile Liver Failure Syndrome 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 618641

OMIM Phenotypic Series ⁵⁷ PS615438

MeSH ⁴⁴ D017093

MedGen ⁴¹ C5231437 CN262533

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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.

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Related Diseases for Infantile Liver Failure Syndrome 3

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

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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)

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Drugs & Therapeutics for Infantile Liver Failure Syndrome 3

Search Clinical Trials , NIH Clinical Center for Infantile Liver Failure Syndrome 3

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Genetic Tests for Infantile Liver Failure Syndrome 3

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Anatomical Context for Infantile Liver Failure Syndrome 3

MalaCards organs/tissues related to Infantile Liver Failure Syndrome 3:

⁴⁰

Liver

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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	Cousin MA...Klee EW	31204009	2019

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Genes for Infantile Liver Failure Syndrome 3

Genes related to Infantile Liver Failure Syndrome 3 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	RINT1	RAD50 Interactor 1	Protein Coding	1217.85	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷³ GeneCards inferred via : Disorders Variants (show sections)	31204009

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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

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Expression for Infantile Liver Failure Syndrome 3

Search GEO for disease gene expression data for Infantile Liver Failure Syndrome 3.

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Pathways for Infantile Liver Failure Syndrome 3

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GO Terms for Infantile Liver Failure Syndrome 3

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Sources for Infantile Liver Failure Syndrome 3

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⁵⁷ OMIM® (Updated 05-Mar-2021)

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⁷⁴ Wikipedia

Infantile Liver Failure Syndrome 3 (ILFS3)

Aliases & Classifications for Infantile Liver Failure Syndrome 3

MalaCards integrated aliases for Infantile Liver Failure Syndrome 3:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Infantile Liver Failure Syndrome 3

Related Diseases for Infantile Liver Failure Syndrome 3

Diseases in the Liver Disease family:

Symptoms & Phenotypes for Infantile Liver Failure Syndrome 3

Human phenotypes related to Infantile Liver Failure Syndrome 3:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics 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:

Publications for Infantile Liver Failure Syndrome 3

Articles related to Infantile Liver Failure Syndrome 3:

Genes for Infantile Liver Failure Syndrome 3

Genes related to Infantile Liver Failure Syndrome 3 (1 elite genes):

Variations for Infantile Liver Failure Syndrome 3

ClinVar genetic disease variations for Infantile Liver Failure Syndrome 3:

UniProtKB/Swiss-Prot genetic disease variations for Infantile Liver Failure Syndrome 3:

Expression 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