U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Infantile liver failure syndrome 2(ILFS2)

MedGen UID:
815981
Concept ID:
C3809651
Disease or Syndrome
Synonym: ILFS2
 
Gene (location): NBAS (2p24.3)
 
Monarch Initiative: MONDO:0014659
OMIM®: 616483

Definition

Infantile liver failure syndrome-2 (ILFS2) 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). [from OMIM]

Clinical features

From HPO
Cardiomyopathy
MedGen UID:
209232
Concept ID:
C0878544
Disease or Syndrome
A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.
Jaundice
MedGen UID:
43987
Concept ID:
C0022346
Sign or Symptom
Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.
Vomiting
MedGen UID:
12124
Concept ID:
C0042963
Sign or Symptom
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
Acute liver failure
MedGen UID:
58125
Concept ID:
C0162557
Disease or Syndrome
Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as acute if there is onset of encephalopathy within 8 weeks of the onset of symptoms in a patient with a previously healthy liver.
Hepatic encephalopathy
MedGen UID:
5513
Concept ID:
C0019151
Disease or Syndrome
Central nervous system dysfunction in association with liver failure and characterized clinically (depending on degree of severity) by lethargy, confusion, nystagmus, decorticate posturing, spasticity, and bilateral Babinski reflexes.
Lethargy
MedGen UID:
7310
Concept ID:
C0023380
Sign or Symptom
A state of fatigue, either physical or mental slowness and sluggishness, with difficulties in initiating or performing simple tasks. Distinguished from apathy which implies indifference and a lack of desire or interest in the task. A person with lethargy may have the desire, but not the energy to engage in personal or socially relevant tasks.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Prolonged prothrombin time
MedGen UID:
208879
Concept ID:
C0853225
Finding
Increased time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula
Hypoglycemia
MedGen UID:
6979
Concept ID:
C0020615
Disease or Syndrome
A decreased concentration of glucose in the blood.
Elevated circulating hepatic transaminase concentration
MedGen UID:
338525
Concept ID:
C1848701
Finding
Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.
Hyperammonemia
MedGen UID:
1802066
Concept ID:
C5574662
Laboratory or Test Result
An increased concentration of ammonia in the blood.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVInfantile liver failure syndrome 2

Professional guidelines

PubMed

Staufner C, Peters B, Wagner M, Alameer S, Barić I, Broué P, Bulut D, Church JA, Crushell E, Dalgıç B, Das AM, Dick A, Dikow N, Dionisi-Vici C, Distelmaier F, Bozbulut NE, Feillet F, Gonzales E, Hadzic N, Hauck F, Hegarty R, Hempel M, Herget T, Klein C, Konstantopoulou V, Kopajtich R, Kuster A, Laass MW, Lainka E, Larson-Nath C, Leibner A, Lurz E, Mayr JA, McKiernan P, Mention K, Moog U, Mungan NO, Riedhammer KM, Santer R, Palafoll IV, Vockley J, Westphal DS, Wiedemann A, Wortmann SB, Diwan GD, Russell RB, Prokisch H, Garbade SF, Kölker S, Hoffmann GF, Lenz D
Genet Med 2020 Mar;22(3):610-621. Epub 2019 Nov 25 doi: 10.1038/s41436-019-0698-4. PMID: 31761904

Recent clinical studies

Diagnosis

Li W, Zhu Y, Guo Q, Wan C
BMC Gastroenterol 2020 Sep 21;20(1):308. doi: 10.1186/s12876-020-01451-4. PMID: 32957979Free PMC Article
Rius R, Riley LG, Guo Y, Menezes M, Compton AG, Van Bergen NJ, Gayevskiy V, Cowley MJ, Cummings BB, Adams L, Ellaway C, Thorburn DR, Hakonarson H, Christodoulou J
Mol Genet Metab 2019 Jan;126(1):77-82. Epub 2018 Dec 11 doi: 10.1016/j.ymgme.2018.12.002. PMID: 30558828
Wang J, Pu Z, Lu Z
Mol Med Rep 2018 Feb;17(2):2245-2250. Epub 2017 Nov 29 doi: 10.3892/mmr.2017.8191. PMID: 29207168Free PMC Article

Prognosis

Suzuki S, Kokumai T, Furuya A, Nagamori T, Matsuo K, Ueda O, Mukai T, Ito Y, Yano K, Fujieda K, Okuno A, Tanahashi Y, Azuma H
Eur J Med Genet 2020 Nov;63(11):104039. Epub 2020 Aug 14 doi: 10.1016/j.ejmg.2020.104039. PMID: 32805445

Clinical prediction guides

Cotrina-Vinagre FJ, Rodríguez-García ME, Martín-Hernández E, Durán-Aparicio C, Merino-López A, Medina-Benítez E, Martínez-Azorín F
Mol Genet Metab 2021 Jun;133(2):201-210. Epub 2021 Feb 27 doi: 10.1016/j.ymgme.2021.02.007. PMID: 33707149
Suzuki S, Kokumai T, Furuya A, Nagamori T, Matsuo K, Ueda O, Mukai T, Ito Y, Yano K, Fujieda K, Okuno A, Tanahashi Y, Azuma H
Eur J Med Genet 2020 Nov;63(11):104039. Epub 2020 Aug 14 doi: 10.1016/j.ejmg.2020.104039. PMID: 32805445

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...