MCID: LVR030
MIFTS: 27

Liver Failure, Infantile, Transient

Categories: Genetic diseases, Rare diseases, Liver diseases, Metabolic diseases, Gastrointestinal diseases, Endocrine diseases

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:



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.

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 Top Affiliating Genes
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

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 Frequency 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

Drugs & Therapeutics for Liver Failure, Infantile, Transient

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

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

Anatomical Context for Liver Failure, Infantile, Transient

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

41
Liver, Skin

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 )
2009

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

Expression for Liver Failure, Infantile, Transient

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

Pathways for Liver Failure, Infantile, Transient

GO Terms for Liver Failure, Infantile, Transient

Sources for Liver Failure, Infantile, Transient

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