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Alpha-fetoprotein deficiency(AFPD)

MedGen UID:
354899
•Concept ID:
C1863081
•
Disease or Syndrome
Synonym: AFPD
 
Gene (location): AFP (4q13.3)
 
OMIM®: 615969
Orphanet: ORPHA168612

Definition

Alpha-fetoprotein deficiency appears to be a benign genetic trait (Greenberg et al., 1992; Sharony et al., 2004). [from OMIM]

Clinical features

From HPO
Decreased circulating alpha-fetoprotein concentration
MedGen UID:
1841521
•Concept ID:
C5826839
•
Finding
Concentration of alpha-fetoprotein in the blood circulation below the lower limit of normal.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAlpha-fetoprotein deficiency

Professional guidelines

PubMed

AGA Clinical Practice Update: Diagnosis and Management of Nonalcoholic Fatty Liver Disease in Lean Individuals: Expert Review.
Long MT, Noureddin M, Lim JK
Gastroenterology 2022 Sep;163(3):764-774.e1. Epub 2022 Jul 14 doi: 10.1053/j.gastro.2022.06.023. PMID: 35842345Free PMC Article
Treatment of epilepsy in pregnancy.
Nulman I, Laslo D, Koren G
Drugs 1999 Apr;57(4):535-44. doi: 10.2165/00003495-199957040-00006. PMID: 10235691
Reproductive health and genetic testing in the Third World.
Penchaszadeh VB
Clin Obstet Gynecol 1993 Sep;36(3):485-95. doi: 10.1097/00003081-199309000-00007. PMID: 8403600

Recent clinical studies

Etiology

Exploring the molecular characteristics of the malignant potential of gastric adenocarcinoma with enteroblastic differentiation.
Wang Y, Wei X, Ke B, Liu J, Guo Y, Liu Y, Chen Y, Ding T, Wang Y, Meng B, Sun B, Zang F
Histopathology 2023 Oct;83(4):631-646. Epub 2023 Jun 25 doi: 10.1111/his.14998. PMID: 37356975
Blood-based biomarkers for hepatocellular carcinoma screening: Approaching the end of the ultrasound era?
Parikh ND, Tayob N, Singal AG
J Hepatol 2023 Jan;78(1):207-216. Epub 2022 Sep 8 doi: 10.1016/j.jhep.2022.08.036. PMID: 36089157Free PMC Article
Identify an innovative ferroptosis-related gene in hepatocellular carcinoma.
Hu G, Huang X, Zhang B, Gao P, Wu W, Wang J
J Clin Lab Anal 2022 Sep;36(9):e24632. Epub 2022 Jul 31 doi: 10.1002/jcla.24632. PMID: 35908779Free PMC Article
AGA Clinical Practice Update: Diagnosis and Management of Nonalcoholic Fatty Liver Disease in Lean Individuals: Expert Review.
Long MT, Noureddin M, Lim JK
Gastroenterology 2022 Sep;163(3):764-774.e1. Epub 2022 Jul 14 doi: 10.1053/j.gastro.2022.06.023. PMID: 35842345Free PMC Article
Laboratory assessment of vitamin K status.
Card DJ, Gorska R, Harrington DJ
J Clin Pathol 2020 Feb;73(2):70-75. Epub 2019 Dec 20 doi: 10.1136/jclinpath-2019-205997. PMID: 31862867

Diagnosis

Blood-based biomarkers for hepatocellular carcinoma screening: Approaching the end of the ultrasound era?
Parikh ND, Tayob N, Singal AG
J Hepatol 2023 Jan;78(1):207-216. Epub 2022 Sep 8 doi: 10.1016/j.jhep.2022.08.036. PMID: 36089157Free PMC Article
AGA Clinical Practice Update: Diagnosis and Management of Nonalcoholic Fatty Liver Disease in Lean Individuals: Expert Review.
Long MT, Noureddin M, Lim JK
Gastroenterology 2022 Sep;163(3):764-774.e1. Epub 2022 Jul 14 doi: 10.1053/j.gastro.2022.06.023. PMID: 35842345Free PMC Article
PIVKA-II serves as a potential biomarker that complements AFP for the diagnosis of hepatocellular carcinoma.
Feng H, Li B, Li Z, Wei Q, Ren L
BMC Cancer 2021 Apr 13;21(1):401. doi: 10.1186/s12885-021-08138-3. PMID: 33849479Free PMC Article
Ataxia telangiectasia: a review.
Rothblum-Oviatt C, Wright J, Lefton-Greif MA, McGrath-Morrow SA, Crawford TO, Lederman HM
Orphanet J Rare Dis 2016 Nov 25;11(1):159. doi: 10.1186/s13023-016-0543-7. PMID: 27884168Free PMC Article
Myoclonus.
Caviness JN, Truong DD
Handb Clin Neurol 2011;100:399-420. doi: 10.1016/B978-0-444-52014-2.00031-8. PMID: 21496598

Therapy

Hepatomegaly and fatty liver disease secondary to central hypothyroidism in combination with macrosomia as initial presentation of IGSF1 deficiency syndrome.
Nikolaou M, Vasilakis IA, Marinakis NM, Tilemis FN, Zellos A, Lykopoulou E, Traeger-Synodinos J, Kanaka-Gantenbein C
Hormones (Athens) 2023 Sep;22(3):515-520. Epub 2023 Jul 26 doi: 10.1007/s42000-023-00468-0. PMID: 37493943
Alpha fetoprotein DNA prime and adenovirus boost immunization of two hepatocellular cancer patients.
Butterfield LH, Economou JS, Gamblin TC, Geller DA
J Transl Med 2014 Apr 5;12:86. doi: 10.1186/1479-5876-12-86. PMID: 24708667Free PMC Article
Pregnancy and multiple sclerosis (MS): a beneficial association. Possible therapeutic application of embryo-specific pre-implantation factor (PIF*).
Paidas MJ, Annunziato J, Romano M, Weiss L, Or R, Barnea ER
Am J Reprod Immunol 2012 Dec;68(6):456-64. Epub 2012 Jul 17 doi: 10.1111/j.1600-0897.2012.01170.x. PMID: 22805418
Treatment of epilepsy in pregnancy.
Nulman I, Laslo D, Koren G
Drugs 1999 Apr;57(4):535-44. doi: 10.2165/00003495-199957040-00006. PMID: 10235691
Immunoglobulins in epilepsy.
Aarli JA
Springer Semin Immunopathol 1985;8(1-2):5-28. doi: 10.1007/BF00197244. PMID: 2408350

Prognosis

AGA Clinical Practice Update: Diagnosis and Management of Nonalcoholic Fatty Liver Disease in Lean Individuals: Expert Review.
Long MT, Noureddin M, Lim JK
Gastroenterology 2022 Sep;163(3):764-774.e1. Epub 2022 Jul 14 doi: 10.1053/j.gastro.2022.06.023. PMID: 35842345Free PMC Article
PIVKA-II serves as a potential biomarker that complements AFP for the diagnosis of hepatocellular carcinoma.
Feng H, Li B, Li Z, Wei Q, Ren L
BMC Cancer 2021 Apr 13;21(1):401. doi: 10.1186/s12885-021-08138-3. PMID: 33849479Free PMC Article
ACSL4 reprograms fatty acid metabolism in hepatocellular carcinoma via c-Myc/SREBP1 pathway.
Chen J, Ding C, Chen Y, Hu W, Yu C, Peng C, Feng X, Cheng Q, Wu W, Lu Y, Xie H, Zhou L, Wu J, Zheng S
Cancer Lett 2021 Apr 1;502:154-165. Epub 2020 Dec 16 doi: 10.1016/j.canlet.2020.12.019. PMID: 33340617
Laboratory assessment of vitamin K status.
Card DJ, Gorska R, Harrington DJ
J Clin Pathol 2020 Feb;73(2):70-75. Epub 2019 Dec 20 doi: 10.1136/jclinpath-2019-205997. PMID: 31862867
Ataxia telangiectasia: a review.
Rothblum-Oviatt C, Wright J, Lefton-Greif MA, McGrath-Morrow SA, Crawford TO, Lederman HM
Orphanet J Rare Dis 2016 Nov 25;11(1):159. doi: 10.1186/s13023-016-0543-7. PMID: 27884168Free PMC Article

Clinical prediction guides

Exploring the molecular characteristics of the malignant potential of gastric adenocarcinoma with enteroblastic differentiation.
Wang Y, Wei X, Ke B, Liu J, Guo Y, Liu Y, Chen Y, Ding T, Wang Y, Meng B, Sun B, Zang F
Histopathology 2023 Oct;83(4):631-646. Epub 2023 Jun 25 doi: 10.1111/his.14998. PMID: 37356975
AGA Clinical Practice Update: Diagnosis and Management of Nonalcoholic Fatty Liver Disease in Lean Individuals: Expert Review.
Long MT, Noureddin M, Lim JK
Gastroenterology 2022 Sep;163(3):764-774.e1. Epub 2022 Jul 14 doi: 10.1053/j.gastro.2022.06.023. PMID: 35842345Free PMC Article
ACSL4 reprograms fatty acid metabolism in hepatocellular carcinoma via c-Myc/SREBP1 pathway.
Chen J, Ding C, Chen Y, Hu W, Yu C, Peng C, Feng X, Cheng Q, Wu W, Lu Y, Xie H, Zhou L, Wu J, Zheng S
Cancer Lett 2021 Apr 1;502:154-165. Epub 2020 Dec 16 doi: 10.1016/j.canlet.2020.12.019. PMID: 33340617
Laboratory assessment of vitamin K status.
Card DJ, Gorska R, Harrington DJ
J Clin Pathol 2020 Feb;73(2):70-75. Epub 2019 Dec 20 doi: 10.1136/jclinpath-2019-205997. PMID: 31862867
Fetoproteins.
Lancet 1970 Feb 21;1(7643):397-8. PMID: 4189695

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.

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • 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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