LFIT
MCID: LVR030
MIFTS: 34

Liver Failure, Infantile, Transient (LFIT)

Categories: Blood diseases, Bone diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Liver Failure, Infantile, Transient

MalaCards integrated aliases for Liver Failure, Infantile, Transient:

Name: Liver Failure, Infantile, Transient 57 72 70
Acute Infantile Liver Failure Due to Synthesis Defect of Mtdna-Encoded Proteins 20 58 29 6
Acute Infantile Liver Failure Due to Synthesis Defect of Mitochondrial Dna-Encoded Proteins 20 58
Liver Failure, Transient Infantile 57 13
Transient Infantile Liver Failure 12 20
Acute Infantile Liver Failure 20 72
Lfit 57 72
Acute Infantile Liver Failure Due to Mtdna-Encoded Proteins Synthesis Defect 72
Failure, Liver, Transient, Infantile 39

Characteristics:

Orphanet epidemiological data:

58
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 (Updated 05-Apr-2021)
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:

31
liver failure, infantile, transient:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare hepatic diseases
Inborn errors of metabolism


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) (Updated 05-Apr-2021)

MalaCards based summary : Liver Failure, Infantile, Transient, also known as acute infantile liver failure due to synthesis defect of mtdna-encoded proteins, is related to fever-associated acute infantile liver failure syndrome and infantile liver failure syndrome 1, and has symptoms including vomiting and icterus. An important gene associated with Liver Failure, Infantile, Transient is TRMU (TRNA Mitochondrial 2-Thiouridylase). Affiliated tissues include liver, and related phenotypes are hepatomegaly and feeding difficulties in infancy

Disease Ontology : 12 A liver disease that is characterized by elevated liver enzymes, jaundice, vomiting, coagulopathy, and hyperbilirubinemia, and the presence of increased serum lactate and that has material basis in homozygous or compound heterozygous mutation in the TRMU gene, which is involved in mitochondrial protein translation, on chromosome 22q13.

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 217371 Definition A very rare mitochondrial respiratory chain deficiency characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia.

UniProtKB/Swiss-Prot : 72 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 Infantile Liver Failure Syndrome 3
Infantile Liver Failure Syndrome 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 fever-associated acute infantile liver failure syndrome 11.6
2 infantile liver failure syndrome 1 11.5
3 spinocerebellar ataxia, autosomal recessive 21 11.5
4 mitochondrial myopathy, infantile, transient 11.0
5 non-alcoholic fatty liver disease 10.0
6 infantile liver failure syndrome 10.0
7 liver disease 10.0
8 acute liver failure 10.0

Graphical network of the top 20 diseases related to Liver Failure, Infantile, Transient:



Diseases related to Liver Failure, Infantile, Transient

Symptoms & Phenotypes for Liver Failure, Infantile, Transient

Human phenotypes related to Liver Failure, Infantile, Transient:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 hepatomegaly 31 HP:0002240
2 feeding difficulties in infancy 31 HP:0008872
3 vomiting 31 HP:0002013
4 elevated hepatic transaminase 31 HP:0002910
5 jaundice 31 HP:0000952
6 increased serum lactate 31 HP:0002151
7 hyperbilirubinemia 31 HP:0002904
8 lactic acidosis 31 HP:0003128
9 generalized hypotonia 31 HP:0001290
10 abdominal distention 31 HP:0003270
11 acute hepatic failure 31 HP:0006554
12 mitochondrial respiratory chain defects 31 HP:0200125
13 microvesicular hepatic steatosis 31 HP:0001414
14 macrovesicular hepatic steatosis 31 HP:0001403
15 abnormality of the coagulation cascade 31 HP:0003256

Symptoms via clinical synopsis from OMIM®:

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

UMLS symptoms related to Liver Failure, Infantile, Transient:


vomiting; icterus

Drugs & Therapeutics for Liver Failure, Infantile, Transient

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 LFITâ„¢ Anatomic CoCr Femoral Heads With X3® Polyethylene Insert Study - An Open Label, Prospective, Post-market, Multi-center Clinical Evaluation of the LFITâ„¢ Anatomic CoCr Femoral Heads With X3® Inserts Completed NCT00510458

Search 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 Acute Infantile Liver Failure Due to Synthesis Defect of Mtdna-Encoded Proteins 29 TRMU

Anatomical Context for Liver Failure, Infantile, Transient

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

40
Liver

Publications for Liver Failure, Infantile, Transient

Articles related to Liver Failure, Infantile, Transient:

(show all 15)
# Title Authors PMID Year
1
Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease. 57 6
21931168 2011
2
Acute infantile liver failure due to mutations in the TRMU gene. 6 57
19732863 2009
3
Hepatic Copper Accumulation: A Novel Feature in Transient Infantile Liver Failure Due to TRMU Mutations? 6
25665837 2015
4
Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New Cases. 6
23625533 2013
5
Reversible fulminant lactic acidosis and liver failure in an infant with hepatic cytochrome-c oxidase deficiency. 57
12408186 2002
6
Bilateral Mechanically-Assisted Crevice Corrosion Resulting in Femoral Stem-Head Dissociation in Metal-on-Polyethylene Total Hip Arthroplasty. 61
33718553 2021
7
Catastrophic failure of the Accolade I hip arthroplasty stem: a retrieval analysis study. 61
32323587 2020
8
Head Taper Corrosion Causing Head Bottoming Out and Consecutive Gross Stem Taper Failure in Total Hip Arthroplasty. 61
30100136 2018
9
Trunnion Failure of the Recalled Low Friction Ion Treatment Cobalt Chromium Alloy Femoral Head. 61
28478184 2017
10
Preparation and evaluation of Salmonella Enteritidis antigen conjugated with nanogold for screening of poultry flocks. 61
28919672 2017
11
Energy compensation after an aerobic exercise session in high-fat/low-fit and low-fat/high-fit young male subjects. 61
23506960 2013
12
Impact of technical training on rapid antigen detection tests (RADT) in group A streptococcal tonsillopharyngitis. 61
23207649 2013
13
Cardiovascular fitness and mortality after contemporary cardiac rehabilitation. 61
23639499 2013
14
Action of sisal (Agave sisalana, Perrine) extract in the in vitro development of sheep and goat gastrointestinal nematodes. 61
22469785 2012
15
In vitro screening of plant lectins and tropical plant extracts for anthelmintic properties. 61
22130336 2012

Variations for Liver Failure, Infantile, Transient

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

6 (show top 50) (show all 106)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TRMU TRMU, IVS11AS, C-G, -3 SNV Pathogenic 30820 GRCh37:
GRCh38:
2 TRMU NM_018006.5(TRMU):c.815G>A (p.Gly272Asp) SNV Pathogenic 1293 rs118203991 GRCh37: 22:46749706-46749706
GRCh38: 22:46353809-46353809
3 TRMU NM_018006.5(TRMU):c.2T>A (p.Met1Lys) SNV Pathogenic 1294 rs118203992 GRCh37: 22:46731663-46731663
GRCh38: 22:46335766-46335766
4 TRMU NM_018006.5(TRMU):c.954dup (p.Ala319fs) Duplication Pathogenic 215294 rs863224242 GRCh37: 22:46751418-46751419
GRCh38: 22:46355521-46355522
5 TRMU NM_018006.5(TRMU):c.718C>T (p.Arg240Ter) SNV Pathogenic 215287 rs367683258 GRCh37: 22:46748173-46748173
GRCh38: 22:46352276-46352276
6 TRMU NM_018006.5(TRMU):c.117G>A (p.Trp39Ter) SNV Pathogenic 856245 GRCh37: 22:46733710-46733710
GRCh38: 22:46337813-46337813
7 TRMU TRMU, IVS3AS, G-A, -1 SNV Pathogenic 1292 GRCh37:
GRCh38:
8 TRMU NM_018006.5(TRMU):c.229T>C (p.Tyr77His) SNV Pathogenic 1291 rs118203990 GRCh37: 22:46733822-46733822
GRCh38: 22:46337925-46337925
9 TRMU NM_018006.5(TRMU):c.835G>A (p.Val279Met) SNV Pathogenic/Likely pathogenic 30819 rs387907022 GRCh37: 22:46749726-46749726
GRCh38: 22:46353829-46353829
10 TRMU NM_018006.5(TRMU):c.653G>T (p.Ser218Ile) SNV Likely pathogenic 807715 rs1601977105 GRCh37: 22:46748019-46748019
GRCh38: 22:46352122-46352122
11 TRMU NM_018006.5(TRMU):c.680G>C (p.Arg227Thr) SNV Likely pathogenic 973463 GRCh37: 22:46748046-46748046
GRCh38: 22:46352149-46352149
12 TRMU NM_018006.5(TRMU):c.1102-3C>G SNV Likely pathogenic 427012 rs753039116 GRCh37: 22:46752736-46752736
GRCh38: 22:46356839-46356839
13 TRMU NM_018006.5(TRMU):c.758T>C (p.Leu253Pro) SNV Likely pathogenic 217019 rs766314948 GRCh37: 22:46748213-46748213
GRCh38: 22:46352316-46352316
14 TRMU NM_018006.5(TRMU):c.880del (p.Arg294fs) Deletion Likely pathogenic 558684 rs1490906786 GRCh37: 22:46751342-46751342
GRCh38: 22:46355445-46355445
15 TRMU NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup) Duplication Conflicting interpretations of pathogenicity 552491 rs753112330 GRCh37: 22:46751933-46751934
GRCh38: 22:46356036-46356037
16 TRMU NM_018006.5(TRMU):c.941C>G (p.Ala314Gly) SNV Uncertain significance 342013 rs760149424 GRCh37: 22:46751408-46751408
GRCh38: 22:46355511-46355511
17 TRMU NM_018006.5(TRMU):c.271A>G (p.Lys91Glu) SNV Uncertain significance 342006 rs886057610 GRCh37: 22:46739181-46739181
GRCh38: 22:46343284-46343284
18 TRMU NM_018006.5(TRMU):c.1163C>T (p.Pro388Leu) SNV Uncertain significance 903539 GRCh37: 22:46752800-46752800
GRCh38: 22:46356903-46356903
19 TRMU NM_018006.5(TRMU):c.1142G>A (p.Gly381Glu) SNV Uncertain significance 903538 GRCh37: 22:46752779-46752779
GRCh38: 22:46356882-46356882
20 TRMU NM_018006.5(TRMU):c.96_97del (p.Phe35fs) Deletion Uncertain significance 631899 rs762738569 GRCh37: 22:46733689-46733690
GRCh38: 22:46337792-46337793
21 TRMU NM_018006.5(TRMU):c.1135G>T (p.Gly379Cys) SNV Uncertain significance 193910 rs773023974 GRCh37: 22:46752772-46752772
GRCh38: 22:46356875-46356875
22 TRMU NM_018006.5(TRMU):c.497C>A (p.Ala166Glu) SNV Uncertain significance 561137 rs756794418 GRCh37: 22:46746206-46746206
GRCh38: 22:46350309-46350309
23 TRMU NM_018006.5(TRMU):c.40G>A (p.Gly14Ser) SNV Uncertain significance 557033 rs751248771 GRCh37: 22:46731701-46731701
GRCh38: 22:46335804-46335804
24 TRMU NM_018006.5(TRMU):c.-35G>A SNV Uncertain significance 342003 rs775079522 GRCh37: 22:46731627-46731627
GRCh38: 22:46335730-46335730
25 TRMU NM_018006.5(TRMU):c.873+11C>T SNV Uncertain significance 342010 rs373365569 GRCh37: 22:46749775-46749775
GRCh38: 22:46353878-46353878
26 TRMU NM_018006.5(TRMU):c.1164G>A (p.Pro388=) SNV Uncertain significance 342017 rs202047181 GRCh37: 22:46752801-46752801
GRCh38: 22:46356904-46356904
27 TRMU NM_018006.5(TRMU):c.289C>T (p.Pro97Ser) SNV Uncertain significance 283815 rs886042713 GRCh37: 22:46739199-46739199
GRCh38: 22:46343302-46343302
28 TRMU NM_018006.5(TRMU):c.773-12_773-9del Deletion Uncertain significance 215293 rs863224241 GRCh37: 22:46749650-46749653
GRCh38: 22:46353753-46353756
29 TRMU NM_018006.5(TRMU):c.83-5C>T SNV Uncertain significance 797583 rs758628820 GRCh37: 22:46733671-46733671
GRCh38: 22:46337774-46337774
30 TRMU NM_018006.5(TRMU):c.82+8G>A SNV Uncertain significance 766086 rs1601929107 GRCh37: 22:46731751-46731751
GRCh38: 22:46335854-46335854
31 TRMU NM_018006.5(TRMU):c.1018+9C>T SNV Uncertain significance 342015 rs373346869 GRCh37: 22:46751494-46751494
GRCh38: 22:46355597-46355597
32 TRMU NM_018006.5(TRMU):c.624A>T (p.Arg208Ser) SNV Uncertain significance 990757 GRCh37: 22:46746333-46746333
GRCh38: 22:46350436-46350436
33 TRMU NM_018006.5(TRMU):c.408A>T (p.Glu136Asp) SNV Uncertain significance 990756 GRCh37: 22:46742371-46742371
GRCh38: 22:46346474-46346474
34 TRMU NM_018006.5(TRMU):c.83-9C>T SNV Uncertain significance 990755 GRCh37: 22:46733667-46733667
GRCh38: 22:46337770-46337770
35 TRMU NM_018006.5(TRMU):c.834C>T (p.Tyr278=) SNV Uncertain significance 797650 rs772935887 GRCh37: 22:46749725-46749725
GRCh38: 22:46353828-46353828
36 TRMU NM_018006.5(TRMU):c.952C>G (p.Pro318Ala) SNV Uncertain significance 342014 rs150128284 GRCh37: 22:46751419-46751419
GRCh38: 22:46355522-46355522
37 TRMU NM_018006.5(TRMU):c.900G>T (p.Leu300=) SNV Uncertain significance 137714 rs113846383 GRCh37: 22:46751367-46751367
GRCh38: 22:46355470-46355470
38 TRMU NM_018006.4(TRMU):c.-161A>C SNV Uncertain significance 341995 rs886057607 GRCh37: 22:46731501-46731501
GRCh38: 22:46335604-46335604
39 TRMU NM_018006.5(TRMU):c.*149G>A SNV Uncertain significance 342024 rs542744986 GRCh37: 22:46753052-46753052
GRCh38: 22:46357155-46357155
40 TRMU NM_018006.5(TRMU):c.-19G>C SNV Uncertain significance 342004 rs886057609 GRCh37: 22:46731643-46731643
GRCh38: 22:46335746-46335746
41 TRMU NM_018006.5(TRMU):c.1188C>G (p.Gly396=) SNV Uncertain significance 342018 rs142346622 GRCh37: 22:46752825-46752825
GRCh38: 22:46356928-46356928
42 TRMU NM_018006.4(TRMU):c.-151G>A SNV Uncertain significance 341996 rs886057608 GRCh37: 22:46731511-46731511
GRCh38: 22:46335614-46335614
43 TRMU NM_018006.4(TRMU):c.-190A>T SNV Uncertain significance 341993 rs538113553 GRCh37: 22:46731472-46731472
GRCh38: 22:46335575-46335575
44 TRMU NM_018006.5(TRMU):c.*113G>A SNV Uncertain significance 342022 rs747510857 GRCh37: 22:46753016-46753016
GRCh38: 22:46357119-46357119
45 TRMU NM_018006.4(TRMU):c.-312G>A SNV Uncertain significance 341990 rs143463292 GRCh37: 22:46731350-46731350
GRCh38: 22:46335453-46335453
46 TRMU NM_018006.5(TRMU):c.1218C>T (p.Ser406=) SNV Uncertain significance 342019 rs754239335 GRCh37: 22:46752855-46752855
GRCh38: 22:46356958-46356958
47 TRMU NM_018006.5(TRMU):c.469G>A (p.Val157Ile) SNV Uncertain significance 215279 rs201755743 GRCh37: 22:46742432-46742432
GRCh38: 22:46346535-46346535
48 TRMU NM_018006.5(TRMU):c.705+4C>T SNV Uncertain significance 596117 rs372122484 GRCh37: 22:46748075-46748075
GRCh38: 22:46352178-46352178
49 TRMU NM_018006.5(TRMU):c.705+10G>A SNV Uncertain significance 899870 GRCh37: 22:46748081-46748081
GRCh38: 22:46352184-46352184
50 TRMU NM_018006.5(TRMU):c.773-4G>A SNV Uncertain significance 899871 GRCh37: 22:46749660-46749660
GRCh38: 22:46353763-46353763

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

72
# Symbol AA change Variation ID SNP ID
1 TRMU p.Tyr77His VAR_063429 rs118203990
2 TRMU p.Gly272Asp VAR_063430 rs118203991

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

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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