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AFPD
MCID: ALP072
MIFTS: 18

Alpha-Fetoprotein Deficiency (AFPD)

Categories: Genetic diseases, Rare diseases
Genes Variations Tissues Publications Symptoms & Phenotypes
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Aliases & Classifications for Alpha-Fetoprotein Deficiency

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MalaCards integrated aliases for Alpha-Fetoprotein Deficiency:

Name: Alpha-Fetoprotein Deficiency 56 73 29 6 39 71
Afpd 56 73
Congenital Deficiency in Alpha-Fetoprotein 58

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
alpha-fetoprotein deficiency:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

OMIM 56 615969
MeSH 43 D008661
ICD10 32 R77.2
UMLS via Orphanet 72 C1863081
Orphanet 58 ORPHA168612
MedGen 41 C1863081
SNOMED-CT via HPO 68 258211005
UMLS 71 C1863081
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Summaries for Alpha-Fetoprotein Deficiency

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UniProtKB/Swiss-Prot : 73 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 : 56 Alpha-fetoprotein deficiency appears to be a benign genetic trait (Greenberg et al., 1992; Sharony et al., 2004). (615969)

Wikipedia : 74 Alpha-fetoprotein (AFP, ?-fetoprotein; also sometimes called alpha-1-fetoprotein, alpha-fetoglobulin, or... more...

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Related Diseases for Alpha-Fetoprotein Deficiency

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Symptoms & Phenotypes for Alpha-Fetoprotein Deficiency

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Human phenotypes related to Alpha-Fetoprotein Deficiency:

31
# Description HPO Frequency HPO Source Accession
1 decreased levels of alpha-fetoprotein 31 HP:0045057

Symptoms via clinical synopsis from OMIM:

56
Laboratory Abnormalities:
low serum alpha-fetoprotein

Clinical features from OMIM:

615969
Sources

Drugs & Therapeutics for Alpha-Fetoprotein Deficiency

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

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Genetic Tests for Alpha-Fetoprotein Deficiency

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Genetic tests related to Alpha-Fetoprotein Deficiency:

# Genetic test Affiliating Genes
1 Alpha-Fetoprotein Deficiency 29 AFP
Sources

Anatomical Context for Alpha-Fetoprotein Deficiency

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MalaCards organs/tissues related to Alpha-Fetoprotein Deficiency:

40
Liver
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Publications for Alpha-Fetoprotein Deficiency

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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. 56 6
18854864 2009
2
Congenital deficiency of alpha feto-protein. 56 6
15280901 2004
3
Alpha-fetoprotein, the major fetal serum protein, is not essential for embryonic development but is required for female fertility. 56
12297623 2002
4
Congenital deficiency of alpha-fetoprotein. 56
1379776 1992
5
Effects of mechanical properties of adhesive resin cements on stress distribution in fiber-reinforced composite adhesive fixed partial dentures. 61
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. 61
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. 61
10854887 2000
8
Comparison of failure rates of adhesive-fixed partial dentures for in vivo and in vitro studies. 61
11218512 2000
9
Adhesive-fixed partial dentures in anterior and posterior areas. Results of an on-going prospective study begun in 1985. 61
9667152 1998
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Variations for Alpha-Fetoprotein Deficiency

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ClinVar genetic disease variations for Alpha-Fetoprotein Deficiency:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 AFP NM_001134.3(AFP):c.881_882CT[1] (p.Leu295fs)short repeat Pathogenic 18169 rs387906580 4:74313216-74313217 4:73447499-73447500
2 AFP NM_001134.3(AFP):c.543G>A (p.Trp181Ter)SNV Pathogenic 18170 rs121912685 4:74308073-74308073 4:73442356-73442356
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Expression for Alpha-Fetoprotein Deficiency

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

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GO Terms for Alpha-Fetoprotein Deficiency

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Sources for Alpha-Fetoprotein Deficiency

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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