AFPD
MCID: ALP072
MIFTS: 26

Alpha-Fetoprotein Deficiency (AFPD)

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Alpha-Fetoprotein Deficiency

MalaCards integrated aliases for Alpha-Fetoprotein Deficiency:

Name: Alpha-Fetoprotein Deficiency 58 76 30 6 41 74
Afpd 58 76
Congenital Deficiency in Alpha-Fetoprotein 60
Alpha-Fetoprotein 13

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
benign condition
major fetal plasma protein produced by yolk sac and liver


HPO:

33
alpha-fetoprotein deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 615969
MeSH 45 D008661
ICD10 34 R77.2
UMLS via Orphanet 75 C1863081
Orphanet 60 ORPHA168612
MedGen 43 C1863081
SNOMED-CT via HPO 70 258211005
UMLS 74 C1863081

Summaries for Alpha-Fetoprotein Deficiency

UniProtKB/Swiss-Prot : 76 Alpha-fetoprotein deficiency: A benign condition characterized by undetectable AFP levels in the amniotic fluid. Affected individuals are asymptomatic and present normal development.

MalaCards based summary : Alpha-Fetoprotein Deficiency, also known as afpd, is related to alpha-fetoprotein, hereditary persistence of and spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2. An important gene associated with Alpha-Fetoprotein Deficiency is AFP (Alpha Fetoprotein). Affiliated tissues include liver, kidney and thyroid, and related phenotype is decreased levels of alpha-fetoprotein.

OMIM : 58 Alpha-fetoprotein deficiency appears to be a benign genetic trait (Greenberg et al., 1992; Sharony et al., 2004). (615969)

Wikipedia : 77 Alpha-fetoprotein (AFP, α-fetoprotein; also sometimes called alpha-1-fetoprotein, alpha-fetoglobulin, or... more...

Related Diseases for Alpha-Fetoprotein Deficiency

Diseases related to Alpha-Fetoprotein Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 283)
# Related Disease Score Top Affiliating Genes
1 alpha-fetoprotein, hereditary persistence of 12.9
2 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 11.9
3 testicular seminoma 11.7
4 ventriculomegaly with cystic kidney disease 11.7
5 cholestasis, progressive familial intrahepatic, 1 11.3
6 cholestasis, progressive familial intrahepatic, 5 11.3
7 hepatocellular carcinoma 11.1
8 neural tube defects 10.9
9 neural tube defects, folate-sensitive 10.8
10 hepatitis 10.8
11 adenocarcinoma 10.7
12 hepatitis b 10.7
13 down syndrome 10.6
14 gastric cancer 10.6
15 endodermal sinus tumor 10.6
16 liver disease 10.6
17 hepatitis c 10.6
18 hepatoblastoma 10.6
19 teratoma 10.5
20 liver cirrhosis 10.5
21 anencephaly 10.5
22 germ cells tumors 10.5
23 testicular cancer 10.5
24 hepatoid adenocarcinoma 10.5
25 seminoma 10.5
26 leydig cell tumor 10.4
27 sertoli-leydig cell tumor 10.4
28 microinvasive gastric cancer 10.4
29 breast cancer 10.3
30 gallbladder cancer 10.3
31 oligohydramnios 10.3
32 acinar cell carcinoma 10.3
33 gastric adenocarcinoma 10.3
34 embryonal carcinoma 10.3
35 beckwith-wiedemann syndrome 10.3
36 hepatitis c virus 10.3
37 acute liver failure 10.3
38 viral hepatitis 10.3
39 epidermolysis bullosa 10.3
40 choriocarcinoma 10.3
41 wilms tumor 5 10.2
42 infantile liver failure syndrome 1 10.2
43 cholangiocarcinoma 10.2
44 wilms tumor 6 10.2
45 sacrococcygeal teratoma 10.2
46 nephrotic syndrome 10.2
47 turner syndrome 10.2
48 chromosomal triplication 10.2
49 hemangioendothelioma 10.2
50 renal cell carcinoma, nonpapillary 10.2

Graphical network of the top 20 diseases related to Alpha-Fetoprotein Deficiency:



Diseases related to Alpha-Fetoprotein Deficiency

Symptoms & Phenotypes for Alpha-Fetoprotein Deficiency

Human phenotypes related to Alpha-Fetoprotein Deficiency:

33
# Description HPO Frequency HPO Source Accession
1 decreased levels of alpha-fetoprotein 33 HP:0045057

Symptoms via clinical synopsis from OMIM:

58
Laboratory Abnormalities:
low serum alpha-fetoprotein

Clinical features from OMIM:

615969

Drugs & Therapeutics for Alpha-Fetoprotein Deficiency

Search Clinical Trials , NIH Clinical Center for Alpha-Fetoprotein Deficiency

Genetic Tests for Alpha-Fetoprotein Deficiency

Genetic tests related to Alpha-Fetoprotein Deficiency:

# Genetic test Affiliating Genes
1 Alpha-Fetoprotein Deficiency 30 AFP

Anatomical Context for Alpha-Fetoprotein Deficiency

MalaCards organs/tissues related to Alpha-Fetoprotein Deficiency:

42
Liver, Kidney, Thyroid, Placenta, Breast, T Cells, Pineal

Publications for Alpha-Fetoprotein Deficiency

Articles related to Alpha-Fetoprotein Deficiency:

# Title Authors Year
1
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. ( 18854864 )
2009
2
Congenital deficiency of alpha feto-protein. ( 15280901 )
2004

Variations for Alpha-Fetoprotein Deficiency

ClinVar genetic disease variations for Alpha-Fetoprotein Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 AFP NM_001134.2(AFP): c.883_884del (p.Leu295Valfs) deletion Pathogenic rs387906580 GRCh37 Chromosome 4, 74313218: 74313219
2 AFP NM_001134.2(AFP): c.883_884del (p.Leu295Valfs) deletion Pathogenic rs387906580 GRCh38 Chromosome 4, 73447501: 73447502
3 AFP NM_001134.2(AFP): c.543G> A (p.Trp181Ter) single nucleotide variant Pathogenic rs121912685 GRCh37 Chromosome 4, 74308073: 74308073
4 AFP NM_001134.2(AFP): c.543G> A (p.Trp181Ter) single nucleotide variant Pathogenic rs121912685 GRCh38 Chromosome 4, 73442356: 73442356

Expression for Alpha-Fetoprotein Deficiency

Search GEO for disease gene expression data for Alpha-Fetoprotein Deficiency.

Pathways for Alpha-Fetoprotein Deficiency

GO Terms for Alpha-Fetoprotein Deficiency

Sources for Alpha-Fetoprotein Deficiency

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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