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 57 29 6 40
Hereditary Persistence of Alpha-Fetoprotein 57 59
Hpafp 57 75
Alpha-Fetoprotein, Hereditary Persistence 75

Characteristics:

OMIM:

57
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:

32
alpha-fetoprotein, hereditary persistence of:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 615970
Orphanet 59 ORPHA168615
MedGen 42 C1863080
MeSH 44 D008661
SNOMED-CT via HPO 69 263681008

Summaries for Alpha-Fetoprotein, Hereditary Persistence of

OMIM : 57 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 : 75 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 10.0
2 testicular germ cell tumor 1 10.0
3 testicular cancer 10.0
4 epididymitis 10.0
5 germ cells tumors 10.0

Graphical network of the top 20 diseases related to Alpha-Fetoprotein, Hereditary Persistence of:



Diseases related to Alpha-Fetoprotein, Hereditary Persistence of

Symptoms & Phenotypes for Alpha-Fetoprotein, Hereditary Persistence of

Symptoms via clinical synopsis from OMIM:

57
Laboratory Abnormalities:
elevated serum alpha-fetoprotein


Clinical features from OMIM:

615970

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

32
# Description HPO Frequency HPO Source Accession
1 elevated alpha-fetoprotein 32 HP:0006254

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 29 AFP

Anatomical Context for Alpha-Fetoprotein, Hereditary Persistence of

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

41
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 NM_001134.2(AFP): c.-163G> A single nucleotide variant Affects rs587776861 GRCh37 Chromosome 4, 74301817: 74301817
2 AFP NM_001134.2(AFP): c.-163G> A single nucleotide variant Affects rs587776861 GRCh38 Chromosome 4, 73436100: 73436100
3 AFP AFP, -55C-A, PROMOTER single nucleotide variant Affects

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....