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

MCID: LVR030 MIFTS: 27	Liver Failure, Infantile, Transient Categories: Genetic diseases, Rare diseases, Liver diseases, Metabolic diseases, Gastrointestinal diseases, Endocrine diseases
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Aliases & Classifications for Liver Failure, Infantile, Transient

MalaCards integrated aliases for Liver Failure, Infantile, Transient:

Name: Liver Failure, Infantile, Transient ⁵⁷ ⁷⁵ ⁷³

Acute Infantile Liver Failure Due to Synthesis Defect of Mitochondrial Dna-Encoded Proteins ⁵³ ⁵⁹

Acute Infantile Liver Failure Due to Synthesis Defect of Mtdna-Encoded Proteins ⁵³ ⁵⁹

Liver Failure, Transient Infantile ⁵⁷ ¹³

Acute Infantile Liver Failure ⁵³ ⁷⁵

Liver Failure Acute Infantile ²⁹ ⁶

Lfit ⁵⁷ ⁷⁵

Acute Infantile Liver Failure Due to Mtdna-Encoded Proteins Synthesis Defect ⁷⁵

Failure, Liver, Transient, Infantile ⁴⁰

Transient Infantile Liver Failure ⁵³

Characteristics:

Orphanet epidemiological data:

⁵⁹

acute infantile liver failure due to synthesis defect of mtdna-encoded proteins
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
onset usually at 2 to 6 months of age
onset at day 1 of life has been reported
clinical improvement after 2 to 3 weeks of supportive care
liver functions return to normal after 3 to 4 months
liver size returns to normal after 3 months to 3 years
those who survive initial acute episode have no recurrence of hepatic involvement, but may have persistent hypotonia

HPO:

³²

liver failure, infantile, transient:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Liver diseases Gastrointestinal diseases Endocrine diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the digestive system

Diseases of liver

Hepatic failure, not elsewhere classified

Acute and subacute hepatic failure

Orphanet: ⁵⁹

Rare hepatic diseases

Inborn errors of metabolism

External Ids:

OMIM ⁵⁷ 613070

Orphanet ⁵⁹ ORPHA217371

ICD10 via Orphanet ³⁴ K72.0

MedGen ⁴² C3278664 C2751567

MeSH ⁴⁴ D017093

UMLS ⁷³ C3278664

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Summaries for Liver Failure, Infantile, Transient

OMIM : ⁵⁷ Acute infantile liver failure resulting from TRMU mutation is a transient disorder of hepatic function. In addition to elevated liver enzymes, jaundice, vomiting, coagulopathy, and hyperbilirubinemia, the presence of increased serum lactate is consistent with a defect in mitochondrial respiratory function. With supportive care, patients who survive the initial acute episode can recover and show normal development (Zeharia et al., 2009). See also transient infantile mitochondrial myopathy (MMIT; 500009), which is a similar disorder. A more severe, permanent disorder with some overlapping features is associated with mitochondrial DNA depletion (251880). See ILFS1 (615438) for information on syndromic infantile liver failure. (613070)

MalaCards based summary : Liver Failure, Infantile, Transient, also known as acute infantile liver failure due to synthesis defect of mitochondrial dna-encoded proteins, is related to infantile liver failure syndrome 1 and infantile liver failure syndrome 2, and has symptoms including icterus and vomiting. An important gene associated with Liver Failure, Infantile, Transient is TRMU (TRNA 5-Methylaminomethyl-2-Thiouridylate Methyltransferase). Affiliated tissues include liver and skin, and related phenotypes are jaundice and generalized hypotonia

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 217371Disease definitionAcute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia.Visit the Orphanet disease page for more resources.

UniProtKB/Swiss-Prot : ⁷⁵ Liver failure, infantile, transient: A transient disorder of hepatic function characterized by elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, increased serum lactate. Patients who survive the initial acute episode can recover, show normal development and have no recurrence.

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Related Diseases for Liver Failure, Infantile, Transient

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 Liver Failure, Infantile, Transient via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score
1	infantile liver failure syndrome 1	11.7
2	infantile liver failure syndrome 2	11.3
3	spinocerebellar ataxia, autosomal recessive 21	11.3
4	mitochondrial myopathy, infantile, transient	11.0

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Symptoms & Phenotypes for Liver Failure, Infantile, Transient

Symptoms via clinical synopsis from OMIM:

⁵⁷

Abdomen Liver:
hepatomegaly
jaundice
cholestasis
mitochondrial respiratory chain defects
microvesicular steatosis
more

Skin Nails Hair Skin:
jaundice
pale-gray skin

Metabolic Features:
lactic acidosis

Abdomen External Features:
distended abdomen

Abdomen Gastrointestinal:
vomiting
poor feeding

Laboratory Abnormalities:
increased serum lactate
abnormal liver enzymes
hyperbilirubinemia, direct
decreased serum albumin
increased alpha-fetoprotein

Muscle Soft Tissue:
hypotonia
cox-depleted fibers

Hematology:
coagulopathy secondary to liver failure

Clinical features from OMIM:

613070

Human phenotypes related to Liver Failure, Infantile, Transient:

³² (show all 15)

#	Description	HPO Source Accession
1	jaundice ³²	HP:0000952
2	generalized hypotonia ³²	HP:0001290
3	macrovesicular hepatic steatosis ³²	HP:0001403
4	microvesicular hepatic steatosis ³²	HP:0001414
5	vomiting ³²	HP:0002013
6	increased serum lactate ³²	HP:0002151
7	hepatomegaly ³²	HP:0002240
8	hyperbilirubinemia ³²	HP:0002904
9	elevated hepatic transaminases ³²	HP:0002910
10	lactic acidosis ³²	HP:0003128
11	abnormality of the coagulation cascade ³²	HP:0003256
12	abdominal distention ³²	HP:0003270
13	acute hepatic failure ³²	HP:0006554
14	feeding difficulties in infancy ³²	HP:0008872
15	mitochondrial respiratory chain defects ³²	HP:0200125

UMLS symptoms related to Liver Failure, Infantile, Transient:

icterus, vomiting

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Drugs & Therapeutics for Liver Failure, Infantile, Transient

Search Clinical Trials , NIH Clinical Center for Liver Failure, Infantile, Transient

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Genetic Tests for Liver Failure, Infantile, Transient

Genetic tests related to Liver Failure, Infantile, Transient:

#	Genetic test	Affiliating Genes
1	Liver Failure Acute Infantile ²⁹	TRMU

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Anatomical Context for Liver Failure, Infantile, Transient

MalaCards organs/tissues related to Liver Failure, Infantile, Transient:

⁴¹

Liver, Skin

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Publications for Liver Failure, Infantile, Transient

Articles related to Liver Failure, Infantile, Transient:

#	Title	Authors	Year
1	Acute infantile liver failure due to mutations in the TRMU gene. ( 19732863 )	Zeharia A....Elpeleg O.	2009

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Genes for Liver Failure, Infantile, Transient

Genes related to Liver Failure, Infantile, Transient (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TRMU	TRNA 5-Methylaminomethyl-2-Thiouridylate Methyltransferase	Protein Coding	1702.9	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ Pathogenic/Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	19732863 21931168

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Variations for Liver Failure, Infantile, Transient

UniProtKB/Swiss-Prot genetic disease variations for Liver Failure, Infantile, Transient:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	TRMU	p.Tyr77His	VAR_063429	rs118203990
2	TRMU	p.Gly272Asp	VAR_063430	rs118203991

ClinVar genetic disease variations for Liver Failure, Infantile, Transient:

⁶

(show top 50) (show all 96)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	TRMU	NM_018006.4(TRMU): c.229T> C (p.Tyr77His)	single nucleotide variant	Pathogenic	rs118203990	GRCh37	Chromosome 22, 46733822: 46733822
2	TRMU	NM_018006.4(TRMU): c.229T> C (p.Tyr77His)	single nucleotide variant	Pathogenic	rs118203990	GRCh38	Chromosome 22, 46337925: 46337925
3	TRMU	TRMU, IVS3AS, G-A, -1	single nucleotide variant	Pathogenic
4	TRMU	NM_018006.4(TRMU): c.815G> A (p.Gly272Asp)	single nucleotide variant	Pathogenic	rs118203991	GRCh37	Chromosome 22, 46749706: 46749706
5	TRMU	NM_018006.4(TRMU): c.815G> A (p.Gly272Asp)	single nucleotide variant	Pathogenic	rs118203991	GRCh38	Chromosome 22, 46353809: 46353809
6	TRMU	NM_018006.4(TRMU): c.2T> A (p.Met1Lys)	single nucleotide variant	Pathogenic	rs118203992	GRCh37	Chromosome 22, 46731663: 46731663
7	TRMU	NM_018006.4(TRMU): c.2T> A (p.Met1Lys)	single nucleotide variant	Pathogenic	rs118203992	GRCh38	Chromosome 22, 46335766: 46335766
8	TRMU	NM_018006.4(TRMU): c.835G> A (p.Val279Met)	single nucleotide variant	Pathogenic/Likely pathogenic	rs387907022	GRCh37	Chromosome 22, 46749726: 46749726
9	TRMU	NM_018006.4(TRMU): c.835G> A (p.Val279Met)	single nucleotide variant	Pathogenic/Likely pathogenic	rs387907022	GRCh38	Chromosome 22, 46353829: 46353829
10	TRMU	TRMU, IVS11AS, C-G, -3	single nucleotide variant	Pathogenic
11	TRMU	NM_018006.4(TRMU): c.272A> G (p.Lys91Arg)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs138044544	GRCh37	Chromosome 22, 46739182: 46739182
12	TRMU	NM_018006.4(TRMU): c.272A> G (p.Lys91Arg)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs138044544	GRCh38	Chromosome 22, 46343285: 46343285
13	TRMU	NM_018006.4(TRMU): c.954dupC (p.Ala319Argfs)	duplication	Pathogenic	rs863224242	GRCh37	Chromosome 22, 46751421: 46751421
14	TRMU	NM_018006.4(TRMU): c.954dupC (p.Ala319Argfs)	duplication	Pathogenic	rs863224242	GRCh38	Chromosome 22, 46355524: 46355524
15	TRMU	NM_018006.4(TRMU): c.758T> C (p.Leu253Pro)	single nucleotide variant	Likely pathogenic	rs766314948	GRCh37	Chromosome 22, 46748213: 46748213
16	TRMU	NM_018006.4(TRMU): c.758T> C (p.Leu253Pro)	single nucleotide variant	Likely pathogenic	rs766314948	GRCh38	Chromosome 22, 46352316: 46352316
17	TRMU	NM_018006.4(TRMU): c.-312G> A	single nucleotide variant	Uncertain significance	rs143463292	GRCh37	Chromosome 22, 46731350: 46731350
18	TRMU	NM_018006.4(TRMU): c.-312G> A	single nucleotide variant	Uncertain significance	rs143463292	GRCh38	Chromosome 22, 46335453: 46335453
19	TRMU	NM_018006.4(TRMU): c.-279G> A	single nucleotide variant	Uncertain significance	rs187162795	GRCh37	Chromosome 22, 46731383: 46731383
20	TRMU	NM_018006.4(TRMU): c.-279G> A	single nucleotide variant	Uncertain significance	rs187162795	GRCh38	Chromosome 22, 46335486: 46335486
21	TRMU	NM_018006.4(TRMU): c.-178G> A	single nucleotide variant	Likely benign	rs114587018	GRCh37	Chromosome 22, 46731484: 46731484
22	TRMU	NM_018006.4(TRMU): c.-178G> A	single nucleotide variant	Likely benign	rs114587018	GRCh38	Chromosome 22, 46335587: 46335587
23	TRMU	NM_018006.4(TRMU): c.-147C> A	single nucleotide variant	Uncertain significance	rs190351151	GRCh38	Chromosome 22, 46335618: 46335618
24	TRMU	NM_018006.4(TRMU): c.-147C> A	single nucleotide variant	Uncertain significance	rs190351151	GRCh37	Chromosome 22, 46731515: 46731515
25	TRMU	NM_018006.4(TRMU): c.-128A> G	single nucleotide variant	Likely benign	rs141601555	GRCh37	Chromosome 22, 46731534: 46731534
26	TRMU	NM_018006.4(TRMU): c.-128A> G	single nucleotide variant	Likely benign	rs141601555	GRCh38	Chromosome 22, 46335637: 46335637
27	TRMU	NM_018006.4(TRMU): c.-113G> C	single nucleotide variant	Uncertain significance	rs182529223	GRCh37	Chromosome 22, 46731549: 46731549
28	TRMU	NM_018006.4(TRMU): c.-113G> C	single nucleotide variant	Uncertain significance	rs182529223	GRCh38	Chromosome 22, 46335652: 46335652
29	TRMU	NM_018006.4(TRMU): c.461G> A (p.Arg154Gln)	single nucleotide variant	Uncertain significance	rs200963587	GRCh38	Chromosome 22, 46346527: 46346527
30	TRMU	NM_018006.4(TRMU): c.461G> A (p.Arg154Gln)	single nucleotide variant	Uncertain significance	rs200963587	GRCh37	Chromosome 22, 46742424: 46742424
31	TRMU	NM_018006.4(TRMU): c.853G> A (p.Val285Ile)	single nucleotide variant	Uncertain significance	rs147754663	GRCh38	Chromosome 22, 46353847: 46353847
32	TRMU	NM_018006.4(TRMU): c.853G> A (p.Val285Ile)	single nucleotide variant	Uncertain significance	rs147754663	GRCh37	Chromosome 22, 46749744: 46749744
33	TRMU	NM_018006.4(TRMU): c.952C> G (p.Pro318Ala)	single nucleotide variant	Uncertain significance	rs150128284	GRCh38	Chromosome 22, 46355522: 46355522
34	TRMU	NM_018006.4(TRMU): c.952C> G (p.Pro318Ala)	single nucleotide variant	Uncertain significance	rs150128284	GRCh37	Chromosome 22, 46751419: 46751419
35	TRMU	NM_018006.4(TRMU): c.1218C> T (p.Ser406=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs754239335	GRCh38	Chromosome 22, 46356958: 46356958
36	TRMU	NM_018006.4(TRMU): c.1218C> T (p.Ser406=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs754239335	GRCh37	Chromosome 22, 46752855: 46752855
37	TRMU	NM_018006.4(TRMU): c.*210G> C	single nucleotide variant	Likely benign	rs141551983	GRCh37	Chromosome 22, 46753113: 46753113
38	TRMU	NM_018006.4(TRMU): c.*210G> C	single nucleotide variant	Likely benign	rs141551983	GRCh38	Chromosome 22, 46357216: 46357216
39	TRMU	NM_018006.4(TRMU): c.-281G> A	single nucleotide variant	Uncertain significance	rs148373924	GRCh37	Chromosome 22, 46731381: 46731381
40	TRMU	NM_018006.4(TRMU): c.-281G> A	single nucleotide variant	Uncertain significance	rs148373924	GRCh38	Chromosome 22, 46335484: 46335484
41	TRMU	NM_018006.4(TRMU): c.-44G> A	single nucleotide variant	Conflicting interpretations of pathogenicity	rs370964036	GRCh38	Chromosome 22, 46335721: 46335721
42	TRMU	NM_018006.4(TRMU): c.-44G> A	single nucleotide variant	Conflicting interpretations of pathogenicity	rs370964036	GRCh37	Chromosome 22, 46731618: 46731618
43	TRMU	NM_018006.4(TRMU): c.-35G> A	single nucleotide variant	Uncertain significance	rs775079522	GRCh38	Chromosome 22, 46335730: 46335730
44	TRMU	NM_018006.4(TRMU): c.-35G> A	single nucleotide variant	Uncertain significance	rs775079522	GRCh37	Chromosome 22, 46731627: 46731627
45	TRMU	NM_018006.4(TRMU): c.865G> A (p.Val289Met)	single nucleotide variant	Uncertain significance	rs886057611	GRCh38	Chromosome 22, 46353859: 46353859
46	TRMU	NM_018006.4(TRMU): c.865G> A (p.Val289Met)	single nucleotide variant	Uncertain significance	rs886057611	GRCh37	Chromosome 22, 46749756: 46749756
47	TRMU	NM_018006.4(TRMU): c.927C> T (p.Arg309=)	single nucleotide variant	Likely benign	rs9627420	GRCh38	Chromosome 22, 46355497: 46355497
48	TRMU	NM_018006.4(TRMU): c.927C> T (p.Arg309=)	single nucleotide variant	Likely benign	rs9627420	GRCh37	Chromosome 22, 46751394: 46751394
49	TRMU	NM_018006.4(TRMU): c.1164G> A (p.Pro388=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs202047181	GRCh38	Chromosome 22, 46356904: 46356904
50	TRMU	NM_018006.4(TRMU): c.1164G> A (p.Pro388=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs202047181	GRCh37	Chromosome 22, 46752801: 46752801

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Expression for Liver Failure, Infantile, Transient

Search GEO for disease gene expression data for Liver Failure, Infantile, Transient.

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Pathways for Liver Failure, Infantile, Transient

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GO Terms for Liver Failure, Infantile, Transient

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