U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss(PFIC7)

MedGen UID:
1794253
•Concept ID:
C5562043
•
Disease or Syndrome
Synonyms: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS; PFIC7
 
Gene (location): USP53 (4q26)
 
Monarch Initiative: MONDO:0030503
OMIM®: 619658

Definition

Progressive intrahepatic cholestasis-7 with or without hearing loss (PFIC7) is an autosomal recessive liver disorder characterized by infantile-onset jaundice and itching associated with cholestasis, elevated alanine aminotransferase (ALT) and aspartate aminotransferase (AST), and normal gamma glutamyltransferase (GGT). Liver biopsy shows hepatocellular and canalicular cholestasis with fibrotic changes. Many patients have resolution of the liver abnormalities with age, although some may have persistent liver enzyme abnormalities or splenomegaly. A subset of patients develops hearing loss in childhood between early infancy and the teenage years. Rifampicin may be effective for pruritis (summary by Maddirevula et al., 2019). For a discussion of genetic heterogeneity of PFIC, see PFIC1 (211600). [from OMIM]

Clinical features

From HPO
Cholestasis
MedGen UID:
925
•Concept ID:
C0008370
•
Disease or Syndrome
Impairment of bile flow due to obstruction in bile ducts.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Hepatic fibrosis
MedGen UID:
116093
•Concept ID:
C0239946
•
Disease or Syndrome
The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process.
See: Feature record | Search on this feature
Hepatic bridging fibrosis
MedGen UID:
868315
•Concept ID:
C4022709
•
Disease or Syndrome
Hepatic fibrosis that reaches from a portal area to another portal area.
See: Feature record | Search on this feature
Hearing impairment
MedGen UID:
235586
•Concept ID:
C1384666
•
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
See: Feature record | Search on this feature
Splenomegaly
MedGen UID:
52469
•Concept ID:
C0038002
•
Finding
Abnormal increased size of the spleen.
See: Feature record | Search on this feature
Hypocalcemia
MedGen UID:
5705
•Concept ID:
C0020598
•
Disease or Syndrome
An abnormally decreased calcium concentration in the blood.
See: Feature record | Search on this feature
Elevated circulating aspartate aminotransferase concentration
MedGen UID:
57497
•Concept ID:
C0151904
•
Finding
The concentration of aspartate aminotransferase (AST) in the blood circulation is above the upper limit of normal.
See: Feature record | Search on this feature
Elevated circulating alanine aminotransferase concentration
MedGen UID:
57740
•Concept ID:
C0151905
•
Finding
An abnormally high concentration in the circulation of alanine aminotransferase (ALT).
See: Feature record | Search on this feature
Elevated circulating alkaline phosphatase concentration
MedGen UID:
727252
•Concept ID:
C1314665
•
Finding
Abnormally increased serum levels of alkaline phosphatase activity.
See: Feature record | Search on this feature
Elevated circulating gamma-aminobutyric acid concentration
MedGen UID:
1643920
•Concept ID:
C4703619
•
Finding
An increase in the level of Gamma-aminobutyric acid (GABA) in the blood circulation.
See: Feature record | Search on this feature
Pruritus
MedGen UID:
19534
•Concept ID:
C0033774
•
Sign or Symptom
Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.
See: Feature record | Search on this feature
Show allHide all

Professional guidelines

PubMed

Clinical Practice Guideline: Ménière's Disease.
Basura GJ, Adams ME, Monfared A, Schwartz SR, Antonelli PJ, Burkard R, Bush ML, Bykowski J, Colandrea M, Derebery J, Kelly EA, Kerber KA, Koopman CF, Kuch AA, Marcolini E, McKinnon BJ, Ruckenstein MJ, Valenzuela CV, Vosooney A, Walsh SA, Nnacheta LC, Dhepyasuwan N, Buchanan EM
Otolaryngol Head Neck Surg 2020 Apr;162(2_suppl):S1-S55. doi: 10.1177/0194599820909438. PMID: 32267799
Clinical Practice Guideline: Sudden Hearing Loss (Update).
Chandrasekhar SS, Tsai Do BS, Schwartz SR, Bontempo LJ, Faucett EA, Finestone SA, Hollingsworth DB, Kelley DM, Kmucha ST, Moonis G, Poling GL, Roberts JK, Stachler RJ, Zeitler DM, Corrigan MD, Nnacheta LC, Satterfield L
Otolaryngol Head Neck Surg 2019 Aug;161(1_suppl):S1-S45. doi: 10.1177/0194599819859885. PMID: 31369359
Hearing Loss in Adults: Differential Diagnosis and Treatment.
Michels TC, Duffy MT, Rogers DJ
Am Fam Physician 2019 Jul 15;100(2):98-108. PMID: 31305044

Recent clinical studies

Etiology

Diabetes mellitus and hearing loss: A review.
Samocha-Bonet D, Wu B, Ryugo DK
Ageing Res Rev 2021 Nov;71:101423. Epub 2021 Aug 9 doi: 10.1016/j.arr.2021.101423. PMID: 34384902
Hearing Loss.
Nieman CL, Oh ES
Ann Intern Med 2020 Dec 1;173(11):ITC81-ITC96. doi: 10.7326/AITC202012010. PMID: 33253610
Contemporary review of the causes and differential diagnosis of sudden sensorineural hearing loss.
Young YH
Int J Audiol 2020 Apr;59(4):243-253. Epub 2019 Nov 12 doi: 10.1080/14992027.2019.1689432. PMID: 31714154
Congenital hearing loss.
Korver AM, Smith RJ, Van Camp G, Schleiss MR, Bitner-Glindzicz MA, Lustig LR, Usami SI, Boudewyns AN
Nat Rev Dis Primers 2017 Jan 12;3:16094. doi: 10.1038/nrdp.2016.94. PMID: 28079113Free PMC Article
Hearing loss: diagnosis and management.
Lasak JM, Allen P, McVay T, Lewis D
Prim Care 2014 Mar;41(1):19-31. Epub 2013 Nov 18 doi: 10.1016/j.pop.2013.10.003. PMID: 24439878

Diagnosis

Hearing Loss and Tinnitus.
Shapiro SB, Noij KS, Naples JG, Samy RN
Med Clin North Am 2021 Sep;105(5):799-811. Epub 2021 Jul 12 doi: 10.1016/j.mcna.2021.05.003. PMID: 34391534
Hearing Loss in Children: A Review.
Lieu JEC, Kenna M, Anne S, Davidson L
JAMA 2020 Dec 1;324(21):2195-2205. doi: 10.1001/jama.2020.17647. PMID: 33258894
Hearing Loss.
Nieman CL, Oh ES
Ann Intern Med 2020 Dec 1;173(11):ITC81-ITC96. doi: 10.7326/AITC202012010. PMID: 33253610
Hearing Loss in Adults: Differential Diagnosis and Treatment.
Michels TC, Duffy MT, Rogers DJ
Am Fam Physician 2019 Jul 15;100(2):98-108. PMID: 31305044
Hearing loss: diagnosis and management.
Lasak JM, Allen P, McVay T, Lewis D
Prim Care 2014 Mar;41(1):19-31. Epub 2013 Nov 18 doi: 10.1016/j.pop.2013.10.003. PMID: 24439878

Therapy

Odevixibat treatment in progressive familial intrahepatic cholestasis: a randomised, placebo-controlled, phase 3 trial.
Thompson RJ, Arnell H, Artan R, Baumann U, Calvo PL, Czubkowski P, Dalgic B, D'Antiga L, Durmaz Ö, Fischler B, Gonzalès E, Grammatikopoulos T, Gupte G, Hardikar W, Houwen RHJ, Kamath BM, Karpen SJ, Kjems L, Lacaille F, Lachaux A, Lainka E, Mack CL, Mattsson JP, McKiernan P, Özen H, Rajwal SR, Roquelaure B, Shagrani M, Shteyer E, Soufi N, Sturm E, Tessier ME, Verkade HJ, Horn P
Lancet Gastroenterol Hepatol 2022 Sep;7(9):830-842. Epub 2022 Jul 1 doi: 10.1016/S2468-1253(22)00093-0. PMID: 35780807
Hyperbaric Oxygen Therapy for Patients With Sudden Sensorineural Hearing Loss: A Systematic Review and Meta-analysis.
Joshua TG, Ayub A, Wijesinghe P, Nunez DA
JAMA Otolaryngol Head Neck Surg 2022 Jan 1;148(1):5-11. doi: 10.1001/jamaoto.2021.2685. PMID: 34709348Free PMC Article
Noise-Induced Hearing Loss: Updates on Molecular Targets and Potential Interventions.
Mao H, Chen Y
Neural Plast 2021;2021:4784385. Epub 2021 Jul 6 doi: 10.1155/2021/4784385. PMID: 34306060Free PMC Article
Gene therapy for hearing loss.
Omichi R, Shibata SB, Morton CC, Smith RJH
Hum Mol Genet 2019 Oct 1;28(R1):R65-R79. doi: 10.1093/hmg/ddz129. PMID: 31227837Free PMC Article
Corticosteroids for acute bacterial meningitis.
Brouwer MC, McIntyre P, Prasad K, van de Beek D
Cochrane Database Syst Rev 2015 Sep 12;2015(9):CD004405. doi: 10.1002/14651858.CD004405.pub5. PMID: 26362566Free PMC Article

Prognosis

Hearing Loss and Failed Newborn Hearing Screen.
Dedhia K, Graham E, Park A
Clin Perinatol 2018 Dec;45(4):629-643. Epub 2018 Sep 24 doi: 10.1016/j.clp.2018.07.004. PMID: 30396409
Effects of sodium thiosulfate versus observation on development of cisplatin-induced hearing loss in children with cancer (ACCL0431): a multicentre, randomised, controlled, open-label, phase 3 trial.
Freyer DR, Chen L, Krailo MD, Knight K, Villaluna D, Bliss B, Pollock BH, Ramdas J, Lange B, Van Hoff D, VanSoelen ML, Wiernikowski J, Neuwelt EA, Sung L
Lancet Oncol 2017 Jan;18(1):63-74. Epub 2016 Dec 1 doi: 10.1016/S1470-2045(16)30625-8. PMID: 27914822Free PMC Article
Aging and Hearing Health: The Life-course Approach.
Davis A, McMahon CM, Pichora-Fuller KM, Russ S, Lin F, Olusanya BO, Chadha S, Tremblay KL
Gerontologist 2016 Apr;56 Suppl 2(Suppl 2):S256-67. doi: 10.1093/geront/gnw033. PMID: 26994265Free PMC Article
Hearing loss and cognitive decline in older adults.
Lin FR, Yaffe K, Xia J, Xue QL, Harris TB, Purchase-Helzner E, Satterfield S, Ayonayon HN, Ferrucci L, Simonsick EM; Health ABC Study Group
JAMA Intern Med 2013 Feb 25;173(4):293-9. doi: 10.1001/jamainternmed.2013.1868. PMID: 23337978Free PMC Article
Hearing loss and incident dementia.
Lin FR, Metter EJ, O'Brien RJ, Resnick SM, Zonderman AB, Ferrucci L
Arch Neurol 2011 Feb;68(2):214-20. doi: 10.1001/archneurol.2010.362. PMID: 21320988Free PMC Article

Clinical prediction guides

Hearing Loss and the Affecting Factors in Patients with Fibromyalgia.
Caglar Yagci H, Ozdamar OI, Ertugrul O, Salman CT, Yagci I
J Coll Physicians Surg Pak 2023 Oct;33(10):1124-1129. doi: 10.29271/jcpsp.2023.10.1124. PMID: 37804017
Odevixibat treatment in progressive familial intrahepatic cholestasis: a randomised, placebo-controlled, phase 3 trial.
Thompson RJ, Arnell H, Artan R, Baumann U, Calvo PL, Czubkowski P, Dalgic B, D'Antiga L, Durmaz Ö, Fischler B, Gonzalès E, Grammatikopoulos T, Gupte G, Hardikar W, Houwen RHJ, Kamath BM, Karpen SJ, Kjems L, Lacaille F, Lachaux A, Lainka E, Mack CL, Mattsson JP, McKiernan P, Özen H, Rajwal SR, Roquelaure B, Shagrani M, Shteyer E, Soufi N, Sturm E, Tessier ME, Verkade HJ, Horn P
Lancet Gastroenterol Hepatol 2022 Sep;7(9):830-842. Epub 2022 Jul 1 doi: 10.1016/S2468-1253(22)00093-0. PMID: 35780807
Hearing Loss in Adults: Differential Diagnosis and Treatment.
Michels TC, Duffy MT, Rogers DJ
Am Fam Physician 2019 Jul 15;100(2):98-108. PMID: 31305044
Monitoring neonates for ototoxicity.
Garinis AC, Kemph A, Tharpe AM, Weitkamp JH, McEvoy C, Steyger PS
Int J Audiol 2018 Sep;57(sup4):S41-S48. Epub 2017 Jun 22 doi: 10.1080/14992027.2017.1339130. PMID: 28949262Free PMC Article
Sudden sensorineural hearing loss: a review of diagnosis, treatment, and prognosis.
Kuhn M, Heman-Ackah SE, Shaikh JA, Roehm PC
Trends Amplif 2011 Sep;15(3):91-105. Epub 2011 May 22 doi: 10.1177/1084713811408349. PMID: 21606048Free PMC Article

Recent systematic reviews

Association of Hearing Aids and Cochlear Implants With Cognitive Decline and Dementia: A Systematic Review and Meta-analysis.
Yeo BSY, Song HJJMD, Toh EMS, Ng LS, Ho CSH, Ho R, Merchant RA, Tan BKJ, Loh WS
JAMA Neurol 2023 Feb 1;80(2):134-141. doi: 10.1001/jamaneurol.2022.4427. PMID: 36469314Free PMC Article
Hyperbaric Oxygen Therapy for Patients With Sudden Sensorineural Hearing Loss: A Systematic Review and Meta-analysis.
Joshua TG, Ayub A, Wijesinghe P, Nunez DA
JAMA Otolaryngol Head Neck Surg 2022 Jan 1;148(1):5-11. doi: 10.1001/jamaoto.2021.2685. PMID: 34709348Free PMC Article
Hearing loss prevalence and years lived with disability, 1990-2019: findings from the Global Burden of Disease Study 2019.
GBD 2019 Hearing Loss Collaborators
Lancet 2021 Mar 13;397(10278):996-1009. doi: 10.1016/S0140-6736(21)00516-X. PMID: 33714390Free PMC Article
Ear wax.
Wright T
BMJ Clin Evid 2015 Mar 4;2015 PMID: 25738938Free PMC Article
Burden of disease caused by otitis media: systematic review and global estimates.
Monasta L, Ronfani L, Marchetti F, Montico M, Vecchi Brumatti L, Bavcar A, Grasso D, Barbiero C, Tamburlini G
PLoS One 2012;7(4):e36226. Epub 2012 Apr 30 doi: 10.1371/journal.pone.0036226. PMID: 22558393Free PMC Article

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.

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (Bookshelf cited)
      Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries
    • PubMed (GeneReviews)
      GeneReviews in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...