AFPD
MCID: ALP072
MIFTS: 18

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 74 29 6 40 72
Afpd 57 74
Congenital Deficiency in Alpha-Fetoprotein 59

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
MeSH 44 D008661
ICD10 33 R77.2
UMLS via Orphanet 73 C1863081
Orphanet 59 ORPHA168612
MedGen 42 C1863081
UMLS 72 C1863081

Summaries for Alpha-Fetoprotein Deficiency

UniProtKB/Swiss-Prot : 74 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, is also known as afpd. An important gene associated with Alpha-Fetoprotein Deficiency is AFP (Alpha Fetoprotein). Affiliated tissues include liver, 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 : 75 Alpha-fetoprotein (AFP, ?-fetoprotein; also sometimes called alpha-1-fetoprotein, alpha-fetoglobulin, or... more...

Related Diseases for Alpha-Fetoprotein Deficiency

Symptoms & Phenotypes for Alpha-Fetoprotein Deficiency

Human phenotypes related to Alpha-Fetoprotein Deficiency:

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

Symptoms via clinical synopsis from OMIM:

57
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 29 AFP

Anatomical Context for Alpha-Fetoprotein Deficiency

MalaCards organs/tissues related to Alpha-Fetoprotein Deficiency:

41
Liver

Publications for Alpha-Fetoprotein Deficiency

Articles related to Alpha-Fetoprotein Deficiency:

# Title Authors PMID 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. 8 71
18854864 2009
2
Congenital deficiency of alpha feto-protein. 8 71
15280901 2004
3
Alpha-fetoprotein, the major fetal serum protein, is not essential for embryonic development but is required for female fertility. 8
12297623 2002
4
Congenital deficiency of alpha-fetoprotein. 8
1379776 1992
5
Effects of mechanical properties of adhesive resin cements on stress distribution in fiber-reinforced composite adhesive fixed partial dentures. 38
22447051 2012
6
Stress distribution of inlay-anchored adhesive fixed partial dentures: a finite element analysis of the influence of restorative materials and abutment preparation design. 38
12070515 2002
7
A new ambulatory foot pressure device for patients with sensory impairment. A system for continuous measurement of plantar pressure and a feed-back alarm. 38
10854887 2000
8
Comparison of failure rates of adhesive-fixed partial dentures for in vivo and in vitro studies. 38
11218512 2000
9
Adhesive-fixed partial dentures in anterior and posterior areas. Results of an on-going prospective study begun in 1985. 38
9667152 1998

Variations for Alpha-Fetoprotein Deficiency

ClinVar genetic disease variations for Alpha-Fetoprotein Deficiency:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 AFP NM_001134.3(AFP): c.881_882CT[1] (p.Leu295fs) short repeat Pathogenic rs387906580 4:74313218-74313219 4:73447501-73447502
2 AFP NM_001134.3(AFP): c.543G> A (p.Trp181Ter) single nucleotide variant Pathogenic rs121912685 4:74308073-74308073 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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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