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Alpha-fetoprotein, hereditary persistence of(HPAFP)

MedGen UID:
349670
•Concept ID:
C1863080
•
Finding
Synonyms: ALPHA-FETOPROTEIN, HEREDITARY PERSISTENCE OF; HPAFP
SNOMED CT: Hereditary persistence of alpha-fetoprotein (716697002)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Gene (location): AFP (4q13.3)
 
OMIM®: 615970
Orphanet: ORPHA168615

Definition

Hereditary persistence of alpha-fetoprotein (HPAFP) is a clinically benign autosomal dominant condition characterized by continued expression of alpha-fetoprotein in adult life (summary by McVey et al., 1993). [from OMIM]

Clinical features

From HPO
Elevated circulating alpha-fetoprotein concentration
MedGen UID:
65916
•Concept ID:
C0235971
•
Finding
Concentration of alpha-fetoprotein in the blood circulation above the upper limit of normal.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Alpha-fetoprotein, hereditary persistence of

Recent clinical studies

Etiology

Hepatocellular carcinoma requiring liver transplantation in hereditary tyrosinemia type 1 despite nitisinone therapy and α1-fetoprotein normalization.
Bhushan S, Noble C, Balouch F, Lewindon P, Lampe G, Hodgkinson P, McGill J, Ee L
Pediatr Transplant 2022 Nov;26(7):e14334. Epub 2022 Jun 13 doi: 10.1111/petr.14334. PMID: 35698261
Hereditary tyrosinemia type 1 in Turkey: twenty year single-center experience.
Zeybek AC, Kiykim E, Soyucen E, Cansever S, Altay S, Zubarioglu T, Erkan T, Aydin A
Pediatr Int 2015 Apr;57(2):281-9. Epub 2014 Dec 11 doi: 10.1111/ped.12503. PMID: 25223216
Hereditary persistence of alpha-fetoprotein (HPAF P): review of the literature.
Houwert AC, Giltay JC, Lentjes EG, Lock MT
Neth J Med 2010 Nov;68(11):354-8. PMID: 21116028
An unhappy triad: hemochromatosis, porphyria cutanea tarda and hepatocellular carcinoma-a case report.
Mogl MT, Pascher A, Presser SJ, Schwabe M, Neuhaus P, Nuessler NC
World J Gastroenterol 2007 Apr 7;13(13):1998-2001. doi: 10.3748/wjg.v13.i13.1998. PMID: 17461505Free PMC Article

Diagnosis

If AFP is elevated, where is cancer? The case report on hereditary persistence of Alpha-fetoprotein.
Saracoglu H, Baskol M, Saracoglu H, Baskol G
Malawi Med J 2022 Dec;34(4):291-293. doi: 10.4314/mmj.v34i4.11. PMID: 38125776Free PMC Article
Update on the applications and limitations of alpha-fetoprotein for hepatocellular carcinoma.
Hanif H, Ali MJ, Susheela AT, Khan IW, Luna-Cuadros MA, Khan MM, Lau DT
World J Gastroenterol 2022 Jan 14;28(2):216-229. doi: 10.3748/wjg.v28.i2.216. PMID: 35110946Free PMC Article
Alpha-fetoprotein, a fascinating protein and biomarker in neurology.
Schieving JH, de Vries M, van Vugt JM, Weemaes C, van Deuren M, Nicolai J, Wevers RA, Willemsen MA
Eur J Paediatr Neurol 2014 May;18(3):243-8. Epub 2013 Sep 29 doi: 10.1016/j.ejpn.2013.09.003. PMID: 24120489
Hereditary persistence of alpha-fetoprotein.
Li X, Alexander S
Pediatr Blood Cancer 2009 Mar;52(3):403-5. doi: 10.1002/pbc.21816. PMID: 18985745
Hereditary persistence of alpha-fetoprotein. Case report and review of the literature.
Schefer H, Mattmann S, Joss RA
Ann Oncol 1998 Jun;9(6):667-72. doi: 10.1023/a:1008243311122. PMID: 9681083

Therapy

Hepatocellular carcinoma requiring liver transplantation in hereditary tyrosinemia type 1 despite nitisinone therapy and α1-fetoprotein normalization.
Bhushan S, Noble C, Balouch F, Lewindon P, Lampe G, Hodgkinson P, McGill J, Ee L
Pediatr Transplant 2022 Nov;26(7):e14334. Epub 2022 Jun 13 doi: 10.1111/petr.14334. PMID: 35698261
Hereditary tyrosinemia type 1 in Turkey: twenty year single-center experience.
Zeybek AC, Kiykim E, Soyucen E, Cansever S, Altay S, Zubarioglu T, Erkan T, Aydin A
Pediatr Int 2015 Apr;57(2):281-9. Epub 2014 Dec 11 doi: 10.1111/ped.12503. PMID: 25223216
Utilization of variant-type of human alpha-fetoprotein promoter in gene therapy targeting for hepatocellular carcinoma.
Ishikawa H, Nakata K, Mawatari F, Ueki T, Tsuruta S, Ido A, Nakao K, Kato Y, Ishii N, Eguchi K
Gene Ther 1999 Apr;6(4):465-70. doi: 10.1038/sj.gt.3300870. PMID: 10476206

Prognosis

Hereditary tyrosinemia type 1 in Turkey: twenty year single-center experience.
Zeybek AC, Kiykim E, Soyucen E, Cansever S, Altay S, Zubarioglu T, Erkan T, Aydin A
Pediatr Int 2015 Apr;57(2):281-9. Epub 2014 Dec 11 doi: 10.1111/ped.12503. PMID: 25223216

Clinical prediction guides

Update on the applications and limitations of alpha-fetoprotein for hepatocellular carcinoma.
Hanif H, Ali MJ, Susheela AT, Khan IW, Luna-Cuadros MA, Khan MM, Lau DT
World J Gastroenterol 2022 Jan 14;28(2):216-229. doi: 10.3748/wjg.v28.i2.216. PMID: 35110946Free PMC Article
Association of Common Variants in HNF1A Gene with Serum AFP Level in Healthy Chinese Individuals and HCC Patients.
Li XJ, Shao DH, He ML, Liang GW
Dis Markers 2019;2019:6273497. Epub 2019 Nov 7 doi: 10.1155/2019/6273497. PMID: 31915469Free PMC Article
Avoiding harmful procedures in patients with elevated α-fetoprotein concentrations: hereditary persistence of α-fetoprotein is an important and benign differential diagnosis!
Bonfig W, Hempel M, Teichert-von Lüttichau I, Liptay S, Burdach S
J Pediatr Hematol Oncol 2012 Oct;34(7):e301-3. doi: 10.1097/MPH.0b013e3182441256. PMID: 22430587
Persistent succinylacetone excretion after liver transplantation in a patient with hereditary tyrosinaemia type I.
Tuchman M, Freese DK, Sharp HL, Whitley CB, Ramnaraine ML, Ulstrom RA, Najarian JS, Ascher N, Buist NR, Terry AB
J Inherit Metab Dis 1985;8(1):21-4. doi: 10.1007/BF01805479. PMID: 2581063

Supplemental Content

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    Clinical resources

    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 (OMIM)
      Related literature resources in PubMed

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