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 6 39
Hereditary Persistence of Alpha-Fetoprotein 57 58
Hpafp 57 72
Alpha-Fetoprotein, Hereditary Persistence 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:

31
alpha-fetoprotein, hereditary persistence of:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 615970
MeSH 44 D008661
Orphanet 58 ORPHA168615
MedGen 41 C1863080
SNOMED-CT via HPO 68 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) (Updated 20-May-2021)

MalaCards based summary : Alpha-Fetoprotein, Hereditary Persistence of, also known as hereditary persistence of alpha-fetoprotein, is related to germ cells tumors and down syndrome. 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 : 72 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 germ cells tumors 10.3
2 down syndrome 10.1
3 testicular germ cell tumor 10.1
4 testicular cancer 10.1
5 liver disease 10.1
6 seminoma 10.1
7 neural tube defects 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

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

31
# Description HPO Frequency HPO Source Accession
1 elevated alpha-fetoprotein 31 HP:0006254

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Laboratory Abnormalities:
elevated serum alpha-fetoprotein

Clinical features from OMIM®:

615970 (Updated 20-May-2021)

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

Anatomical Context for Alpha-Fetoprotein, Hereditary Persistence of

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

40
Liver

Publications for Alpha-Fetoprotein, Hereditary Persistence of

Articles related to Alpha-Fetoprotein, Hereditary Persistence of:

# Title Authors PMID Year
1
Hereditary persistence of alpha-fetoprotein is due to both proximal and distal hepatocyte nuclear factor-1 site mutations. 61 57 6
14699509 2004
2
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). 61 6 57
7684942 1993
3
Hereditary persistence of alpha-fetoprotein. 57
1690155 1990
4
Hereditary Persistence of Alpha-Fetoprotein Is Associated with the -119G>A Polymorphism in AFP Gene. 61
28286798 2017
5
Hereditary persistence of alpha-fetoprotein mimicking testicular cancer in a patient with acute epididymitis. 61
21446891 2011
6
Hereditary persistence of alpha-fetoprotein (HPAF P): review of the literature. 61
21116028 2010
7
[High alpha-fetoprotein persistence after orchiectomy. On a case of uncommon etiology]. 61
21308671 2010
8
Hereditary persistence of alpha-fetoprotein. 61
18985745 2009
9
Hereditary persistence of alpha-fetoprotein. Case report and review of the literature. 61
9681083 1998

Variations for Alpha-Fetoprotein, Hereditary Persistence of

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AFP AFP, -55C-A, PROMOTER SNV Affects 208793 GRCh37:
GRCh38:
2 AFP , LOC111832670 NM_001134.2(AFP):c.-163G>A SNV Affects 18168 rs587776861 GRCh37: 4:74301817-74301817
GRCh38: 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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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