AFPD
MCID: ALP072
MIFTS: 25

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 57 75 29 6 40 73
Afpd 57 75
Congenital Deficiency in Alpha-Fetoprotein 59
Alpha-Fetoprotein 13

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
alpha-fetoprotein deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 615969
Orphanet 59 ORPHA168612
UMLS via Orphanet 74 C1863081
MedGen 42 C1863081
MeSH 44 D008661
ICD10 33 R77.2
SNOMED-CT via HPO 69 258211005
UMLS 73 C1863081

Summaries for Alpha-Fetoprotein Deficiency

UniProtKB/Swiss-Prot : 75 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 1. An important gene associated with Alpha-Fetoprotein Deficiency is AFP (Alpha Fetoprotein). Affiliated tissues include liver, lung and kidney, and related phenotype is decreased levels of alpha-fetoprotein.

OMIM : 57 Alpha-fetoprotein deficiency appears to be a benign genetic trait (Greenberg et al., 1992; Sharony et al., 2004). (615969)

Wikipedia : 76 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 246)
# Related Disease Score Top Affiliating Genes
1 alpha-fetoprotein, hereditary persistence of 12.9
2 spinocerebellar ataxia, autosomal recessive 1 11.8
3 testicular seminoma 11.6
4 cholestasis, progressive familial intrahepatic, 1 11.3
5 ventriculomegaly with cystic kidney disease 11.3
6 cholestasis, progressive familial intrahepatic, 5 11.3
7 hepatocellular carcinoma 11.0
8 hepatitis 10.8
9 adenocarcinoma 10.7
10 hepatitis b 10.6
11 endodermal sinus tumor 10.6
12 gastric cancer 10.5
13 down syndrome 10.5
14 hepatitis c 10.5
15 neural tube defects 10.5
16 hepatoblastoma 10.5
17 anencephaly 10.5
18 teratoma 10.5
19 liver disease 10.4
20 hepatoid adenocarcinoma 10.4
21 germ cells tumors 10.4
22 neural tube defects, folate-sensitive 10.4
23 leydig cell tumor 10.4
24 sertoli-leydig cell tumor 10.4
25 liver cirrhosis 10.4
26 seminoma 10.4
27 oligohydramnios 10.3
28 acinar cell carcinoma 10.3
29 gallbladder cancer 10.3
30 gastric adenocarcinoma 10.3
31 breast cancer 10.3
32 epidermolysis bullosa 10.3
33 beckwith-wiedemann syndrome 10.2
34 hepatitis c virus 10.2
35 cholangiocarcinoma 10.2
36 acute liver failure 10.2
37 sacrococcygeal teratoma 10.2
38 nephrotic syndrome 10.2
39 infantile liver failure syndrome 1 10.2
40 familial nephrotic syndrome 10.2
41 pre-eclampsia 10.2
42 eclampsia 10.2
43 viral hepatitis 10.2
44 embryonal carcinoma 10.2
45 choriocarcinoma 10.2
46 viral infectious disease 10.2
47 renal cell carcinoma, nonpapillary 10.1
48 hydatidiform mole, recurrent, 1 10.1
49 cystadenocarcinoma 10.1
50 teratocarcinoma 10.1

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



Diseases related to Alpha-Fetoprotein Deficiency

Symptoms & Phenotypes for Alpha-Fetoprotein Deficiency

Symptoms via clinical synopsis from OMIM:

57
Laboratory Abnormalities:
low serum alpha-fetoprotein


Clinical features from OMIM:

615969

Human phenotypes related to Alpha-Fetoprotein Deficiency:

32
# Description HPO Frequency HPO Source Accession
1 decreased levels of alpha-fetoprotein 32 HP:0045057

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 29 AFP

Anatomical Context for Alpha-Fetoprotein Deficiency

MalaCards organs/tissues related to Alpha-Fetoprotein Deficiency:

41
Liver, Lung, Kidney, Heart, T Cells, Pineal, Placenta

Publications for Alpha-Fetoprotein Deficiency

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_884delCT (p.Leu295Valfs) deletion Pathogenic rs387906580 GRCh37 Chromosome 4, 74313218: 74313219
2 AFP NM_001134.2(AFP): c.883_884delCT (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 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
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