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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.
 
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.

Term Hierarchy

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

Recent clinical studies

Etiology

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
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
Houwert AC, Giltay JC, Lentjes EG, Lock MT
Neth J Med 2010 Nov;68(11):354-8. PMID: 21116028
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

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
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
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
Li X, Alexander S
Pediatr Blood Cancer 2009 Mar;52(3):403-5. doi: 10.1002/pbc.21816. PMID: 18985745
Schefer H, Mattmann S, Joss RA
Ann Oncol 1998 Jun;9(6):667-72. doi: 10.1023/a:1008243311122. PMID: 9681083

Therapy

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
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
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

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

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
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
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
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

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