HPAFP
MCID: ALP088
MIFTS: 20

Alpha-Fetoprotein, Hereditary Persistence of (HPAFP)

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Alpha-Fetoprotein, Hereditary Persistence of

MalaCards integrated aliases for Alpha-Fetoprotein, Hereditary Persistence of:

Name: Alpha-Fetoprotein, Hereditary Persistence of 58 30 6 41
Hereditary Persistence of Alpha-Fetoprotein 58 60
Hpafp 58 76
Alpha-Fetoprotein, Hereditary Persistence 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
benign condition
major fetal plasma protein produced by yolk sac and liver
elevated afp can be seen in other disorders


HPO:

33
alpha-fetoprotein, hereditary persistence of:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 615970
MeSH 45 D008661
Orphanet 60 ORPHA168615
MedGen 43 C1863080
SNOMED-CT via HPO 70 263681008

Summaries for Alpha-Fetoprotein, Hereditary Persistence of

OMIM : 58 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). (615970)

MalaCards based summary : Alpha-Fetoprotein, Hereditary Persistence of, also known as hereditary persistence of alpha-fetoprotein, is related to testicular germ cell tumor and testicular germ cell tumor 1. An important gene associated with Alpha-Fetoprotein, Hereditary Persistence of is AFP (Alpha Fetoprotein). Affiliated tissues include liver, and related phenotype is elevated alpha-fetoprotein.

UniProtKB/Swiss-Prot : 76 Alpha-fetoprotein, hereditary persistence: A benign autosomal dominant condition characterized by continued expression of alpha-fetoprotein in adult life.

Related Diseases for Alpha-Fetoprotein, Hereditary Persistence of

Diseases related to Alpha-Fetoprotein, Hereditary Persistence of via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 testicular germ cell tumor 10.1
2 testicular germ cell tumor 1 10.1
3 testicular cancer 10.1
4 germ cells tumors 10.1

Symptoms & Phenotypes for Alpha-Fetoprotein, Hereditary Persistence of

Human phenotypes related to Alpha-Fetoprotein, Hereditary Persistence of:

33
# Description HPO Frequency HPO Source Accession
1 elevated alpha-fetoprotein 33 HP:0006254

Symptoms via clinical synopsis from OMIM:

58
Laboratory Abnormalities:
elevated serum alpha-fetoprotein

Clinical features from OMIM:

615970

Drugs & Therapeutics for Alpha-Fetoprotein, Hereditary Persistence of

Search Clinical Trials , NIH Clinical Center for Alpha-Fetoprotein, Hereditary Persistence of

Genetic Tests for Alpha-Fetoprotein, Hereditary Persistence of

Genetic tests related to Alpha-Fetoprotein, Hereditary Persistence of:

# Genetic test Affiliating Genes
1 Alpha-Fetoprotein, Hereditary Persistence of 30 AFP

Anatomical Context for Alpha-Fetoprotein, Hereditary Persistence of

MalaCards organs/tissues related to Alpha-Fetoprotein, Hereditary Persistence of:

42
Liver

Publications for Alpha-Fetoprotein, Hereditary Persistence of

Articles related to Alpha-Fetoprotein, Hereditary Persistence of:

# Title Authors Year
1
Hereditary persistence of alpha-fetoprotein: a rare cause for unexplained alpha-fetoprotein elevations in pregnancy. ( 23427373 )
2013
2
Hereditary persistence of alpha-fetoprotein mimicking testicular cancer in a patient with acute epididymitis. ( 21446891 )
2011
3
Hereditary persistence of alpha-fetoprotein. ( 18985745 )
2009
4
Molecular mechanisms of hereditary persistence of alpha-fetoprotein (AFP) in two Japanese families A hepatocyte nuclear factor-1 site mutation leads to induction of the AFP gene expression in adult livers. ( 15716018 )
2005
5
Rapid determination of alpha-fetoprotein gene promoter mutations in hereditary persistence of alpha-fetoprotein. ( 15331517 )
2004
6
Hereditary persistence of alpha-fetoprotein is due to both proximal and distal hepatocyte nuclear factor-1 site mutations. ( 14699509 )
2004
7
Hereditary persistence of alpha-fetoprotein in a child with testicular germ cell tumor. ( 10358703 )
1999
8
Hereditary persistence of alpha-fetoprotein. Case report and review of the literature. ( 9681083 )
1998
9
A G-->A substitution in an HNF I binding site in the human alpha- fetoprotein gene is associated with hereditary persistence of alpha- fetoprotein (HPAFP). ( 7684942 )
1993

Variations for Alpha-Fetoprotein, Hereditary Persistence of

ClinVar genetic disease variations for Alpha-Fetoprotein, Hereditary Persistence of:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 AFP AFP, -55C-A, PROMOTER single nucleotide variant Affects
2 AFP NM_001134.2(AFP): c.-163G> A single nucleotide variant Affects rs587776861 GRCh37 Chromosome 4, 74301817: 74301817
3 AFP NM_001134.2(AFP): c.-163G> A single nucleotide variant Affects rs587776861 GRCh38 Chromosome 4, 73436100: 73436100

Expression for Alpha-Fetoprotein, Hereditary Persistence of

Search GEO for disease gene expression data for Alpha-Fetoprotein, Hereditary Persistence of.

Pathways for Alpha-Fetoprotein, Hereditary Persistence of

GO Terms for Alpha-Fetoprotein, Hereditary Persistence of

Sources for Alpha-Fetoprotein, Hereditary Persistence of

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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