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Infantile liver failure syndrome 3(ILFS3)

MedGen UID:
1684678
Concept ID:
C5231437
Disease or Syndrome
Synonyms: ILFS3; INFANTILE LIVER FAILURE SYNDROME 3
 
Gene (location): RINT1 (7q22.3)
 
Monarch Initiative: MONDO:0032844
OMIM®: 618641

Definition

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). [from OMIM]

Clinical features

From HPO
Clubfoot
MedGen UID:
3130
Concept ID:
C0009081
Congenital Abnormality
Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).
Abnormal acetabulum morphology
MedGen UID:
867374
Concept ID:
C4021739
Anatomical Abnormality
An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Cholestasis
MedGen UID:
925
Concept ID:
C0008370
Disease or Syndrome
Impairment of bile flow due to obstruction in bile ducts.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormally increased size of the liver.
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.
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 steatosis
MedGen UID:
398225
Concept ID:
C2711227
Disease or Syndrome
Steatosis is a term used to denote lipid accumulation within hepatocytes.
Hepatic bridging fibrosis
MedGen UID:
868315
Concept ID:
C4022709
Disease or Syndrome
Hepatic fibrosis that reaches from a portal area to another portal area.
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.
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
Platyspondyly
MedGen UID:
335010
Concept ID:
C1844704
Finding
A flattened vertebral body shape with reduced distance between the vertebral endplates.
Beaking of vertebral bodies
MedGen UID:
341588
Concept ID:
C1856599
Finding
Anterior tongue-like protrusions of the vertebral bodies.
Hypoplastic vertebral bodies
MedGen UID:
354963
Concept ID:
C1863353
Congenital Abnormality
Abnormality of the epiphysis of the femoral head
MedGen UID:
866896
Concept ID:
C4021252
Anatomical Abnormality
Any abnormality of the proximal epiphysis of the femur.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal increased size of the spleen.
Elevated hepatic transaminase
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.

Professional guidelines

PubMed

Veys K, Zadora W, Hohenfellner K, Bockenhauer D, Janssen MCH, Niaudet P, Servais A, Topaloglu R, Besouw M, Novo R, Haffner D, Kanzelmeyer N, Pape L, Wühl E, Harms E, Awan A, Sikora P, Ariceta G, van den Heuvel B, Levtchenko E
J Inherit Metab Dis 2023 Jan;46(1):43-54. Epub 2022 Oct 6 doi: 10.1002/jimd.12562. PMID: 36117148
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

Etiology

Vara R, Pinon M, Fratter C, Hegarty R, Hadzic N
J Inherit Metab Dis 2023 Jul;46(4):634-648. Epub 2023 May 28 doi: 10.1002/jimd.12633. PMID: 37204315
Veys K, Zadora W, Hohenfellner K, Bockenhauer D, Janssen MCH, Niaudet P, Servais A, Topaloglu R, Besouw M, Novo R, Haffner D, Kanzelmeyer N, Pape L, Wühl E, Harms E, Awan A, Sikora P, Ariceta G, van den Heuvel B, Levtchenko E
J Inherit Metab Dis 2023 Jan;46(1):43-54. Epub 2022 Oct 6 doi: 10.1002/jimd.12562. PMID: 36117148
Alsaleem BM, Hasosah M, Ahmed ABM, Al Hatlani MM, Alanazi AH, Al-Hussaini A, Asery AT, Alghamdi KA, AlRuwaithi MM, Khormi MAM, Al Sarkhy A, Alshamrani AS
Saudi J Gastroenterol 2022 Mar-Apr;28(2):135-142. doi: 10.4103/sjg.sjg_200_21. PMID: 34414925Free PMC Article
Tirosh A, Auerbach A, Bonella B, Zavras PD, Belyavskaya E, Lyssikatos C, Meir K, Weiss R, Daum H, Lodish MB, Gillis D, Stratakis CA
Horm Res Paediatr 2018;89(1):38-46. Epub 2017 Nov 21 doi: 10.1159/000484690. PMID: 29161691
Harding BN
J Child Neurol 1990 Oct;5(4):273-87. doi: 10.1177/088307389000500402. PMID: 2246481

Diagnosis

Huang AC, Ebel NH, Romero D, Martin B, Jhun I, Brown M, Enns GM, Esquivel C, Bonham C
Pediatr Transplant 2022 Aug;26(5):e14274. Epub 2022 Apr 24 doi: 10.1111/petr.14274. PMID: 35466509
Alsaleem BM, Hasosah M, Ahmed ABM, Al Hatlani MM, Alanazi AH, Al-Hussaini A, Asery AT, Alghamdi KA, AlRuwaithi MM, Khormi MAM, Al Sarkhy A, Alshamrani AS
Saudi J Gastroenterol 2022 Mar-Apr;28(2):135-142. doi: 10.4103/sjg.sjg_200_21. PMID: 34414925Free PMC Article
Tirosh A, Auerbach A, Bonella B, Zavras PD, Belyavskaya E, Lyssikatos C, Meir K, Weiss R, Daum H, Lodish MB, Gillis D, Stratakis CA
Horm Res Paediatr 2018;89(1):38-46. Epub 2017 Nov 21 doi: 10.1159/000484690. PMID: 29161691
Goulet O, Vinson C, Roquelaure B, Brousse N, Bodemer C, Cézard JP
Orphanet J Rare Dis 2008 Feb 28;3:6. doi: 10.1186/1750-1172-3-6. PMID: 18304370Free PMC Article
Harding BN
J Child Neurol 1990 Oct;5(4):273-87. doi: 10.1177/088307389000500402. PMID: 2246481

Therapy

Veys K, Zadora W, Hohenfellner K, Bockenhauer D, Janssen MCH, Niaudet P, Servais A, Topaloglu R, Besouw M, Novo R, Haffner D, Kanzelmeyer N, Pape L, Wühl E, Harms E, Awan A, Sikora P, Ariceta G, van den Heuvel B, Levtchenko E
J Inherit Metab Dis 2023 Jan;46(1):43-54. Epub 2022 Oct 6 doi: 10.1002/jimd.12562. PMID: 36117148
Kim YH, Lee YA, Shin CH, Hong KT, Kim GB, Ko JS, Lee YJ
J Korean Med Sci 2020 Jun 8;35(22):e180. doi: 10.3346/jkms.2020.35.e180. PMID: 32508067Free PMC Article
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
Sarıalioğlu F, Yazıcı N, Erbay A, Boyvat F, Demir Ş, Özçay F, Uslu N
Exp Clin Transplant 2017 Mar;15(Suppl 2):74-78. doi: 10.6002/ect.TOND16.L19. PMID: 28302004
Oliveira C, de Silva NT, Stanojevic S, Avitzur Y, Bayoumi AM, Ungar WJ, Hoch JS, Wales PW
J Am Coll Surg 2016 Jun;222(6):1180-1188.e3. Epub 2016 Mar 18 doi: 10.1016/j.jamcollsurg.2016.03.007. PMID: 27067452

Prognosis

Alsaleem BM, Hasosah M, Ahmed ABM, Al Hatlani MM, Alanazi AH, Al-Hussaini A, Asery AT, Alghamdi KA, AlRuwaithi MM, Khormi MAM, Al Sarkhy A, Alshamrani AS
Saudi J Gastroenterol 2022 Mar-Apr;28(2):135-142. doi: 10.4103/sjg.sjg_200_21. PMID: 34414925Free PMC Article
Dassie F, Favaretto F, Bettini S, Parolin M, Valenti M, Reschke F, Danne T, Vettor R, Milan G, Maffei P
Endocrine 2021 Mar;71(3):618-625. Epub 2021 Feb 10 doi: 10.1007/s12020-021-02643-y. PMID: 33566311
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
Tirosh A, Auerbach A, Bonella B, Zavras PD, Belyavskaya E, Lyssikatos C, Meir K, Weiss R, Daum H, Lodish MB, Gillis D, Stratakis CA
Horm Res Paediatr 2018;89(1):38-46. Epub 2017 Nov 21 doi: 10.1159/000484690. PMID: 29161691
Goulet O, Vinson C, Roquelaure B, Brousse N, Bodemer C, Cézard JP
Orphanet J Rare Dis 2008 Feb 28;3:6. doi: 10.1186/1750-1172-3-6. PMID: 18304370Free PMC Article

Clinical prediction guides

Veys K, Zadora W, Hohenfellner K, Bockenhauer D, Janssen MCH, Niaudet P, Servais A, Topaloglu R, Besouw M, Novo R, Haffner D, Kanzelmeyer N, Pape L, Wühl E, Harms E, Awan A, Sikora P, Ariceta G, van den Heuvel B, Levtchenko E
J Inherit Metab Dis 2023 Jan;46(1):43-54. Epub 2022 Oct 6 doi: 10.1002/jimd.12562. PMID: 36117148
Dassie F, Favaretto F, Bettini S, Parolin M, Valenti M, Reschke F, Danne T, Vettor R, Milan G, Maffei P
Endocrine 2021 Mar;71(3):618-625. Epub 2021 Feb 10 doi: 10.1007/s12020-021-02643-y. PMID: 33566311
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
Salomon R, Saunier S, Niaudet P
Pediatr Nephrol 2009 Dec;24(12):2333-44. Epub 2008 Jul 8 doi: 10.1007/s00467-008-0840-z. PMID: 18607645Free PMC Article
Kassarjian A, Zurakowski D, Dubois J, Paltiel HJ, Fishman SJ, Burrows PE
AJR Am J Roentgenol 2004 Mar;182(3):785-95. doi: 10.2214/ajr.182.3.1820785. PMID: 14975986

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