KEGG DISEASE: Abnormality of alpha-fetoprotein

KEGG

DISEASE: Abnormality of alpha-fetoprotein

Entry

H02807                      Disease

Name

Abnormality of alpha-fetoprotein

Subgroup

Alpha-fetoprotein deficiency
Hereditary persistence of alpha-fetoprotein (HPAFP)

Description

Alpha-fetoprotein (AFP) is a major plasma protein produced by the yolk sac and the liver during the fetal. Congenital AFP deficiency is a rare phenomenon. A few cases were studied, and mutations in the AFP gene have been reported. Congenital AFP deficiency is considered as a benign trait. It was suggested that AFP is not essential for embryonic development but is required for female fertility. AFP gene transcription declines rapidly after birth, and is barely detectable in normal adults. However, AFP expression is reactivated under specific conditions, such as pregnancy, congenital disorders, liver diseases, or specific malignancies. AFP is also found to be elevated in several non-malignant conditions including hereditary persistence of AFP (HPAFP). HPAFP is a rare benign autosomal dominant disorder.

Category

Hematologic disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
21 Symptoms, signs or clinical findings, not elsewhere classified
  Symptoms, signs or clinical findings of blood, blood-forming organs, or the immune system
   Clinical findings in blood, blood-forming organs, or the immune system
    MA19  Certain abnormalities of plasma proteins
     H02807  Abnormality of alpha-fetoprotein

Gene

AFP [HSA:174] [KO:K16144]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Petit FM, Hebert M, Picone O, Brisset S, Maurin ML, Parisot F, Capel L, Benattar C, Senat MV, Tachdjian G, Labrune P

Title

A new mutation in the AFP gene responsible for a total absence of alpha feto-protein on second trimester maternal serum screening for Down syndrome.

Journal

Eur J Hum Genet 17:387-90 (2009)
DOI:10.1038/ejhg.2008.186

Reference

Authors

Sharony R, Zadik I, Parvari R

Title

Congenital deficiency of alpha feto-protein.

Journal

Eur J Hum Genet 12:871-4 (2004)
DOI:10.1038/sj.ejhg.5201246

Reference

Authors

Gabant P, Forrester L, Nichols J, Van Reeth T, De Mees C, Pajack B, Watt A, Smitz J, Alexandre H, Szpirer C, Szpirer J

Title

Alpha-fetoprotein, the major fetal serum protein, is not essential for embryonic development but is required for female fertility.

Journal

Proc Natl Acad Sci U S A 99:12865-70 (2002)
DOI:10.1073/pnas.202215399

Reference

PMID:14699509 (HPAFP)

Authors

Alj Y, Georgiakaki M, Savouret JF, Mal F, Attali P, Pelletier G, Fourre C, Milgrom E, Buffet C, Guiochon-Mantel A, Perlemuter G

Title

Hereditary persistence of alpha-fetoprotein is due to both proximal and distal hepatocyte nuclear factor-1 site mutations.

Journal

Gastroenterology 126:308-17 (2004)
DOI:10.1053/j.gastro.2003.10.073

Reference

PMID:18985745 (HPAFP)

Authors

Li X, Alexander S

Title

Hereditary persistence of alpha-fetoprotein.

Journal

Pediatr Blood Cancer 52:403-5 (2009)
DOI:10.1002/pbc.21816

LinkDB

» Japanese version

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