Alpha-Fetoprotein Deficiency disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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

HPO:

³²

alpha-fetoprotein deficiency:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Symptoms, signs and abnormal clinical and laboratory findings, not elsewhere classified

Abnormal findings on examination of blood, without diagnosis

Other abnormalities of plasma proteins

Abnormality of alphafetoprotein

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

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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, 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...

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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 211)

#	Related Disease	Score
1	alpha-fetoprotein, hereditary persistence of	12.8
2	spinocerebellar ataxia, autosomal recessive 1	11.6
3	testicular seminoma	11.5
4	cholestasis, progressive familial intrahepatic, 1	11.1
5	ventriculomegaly with cystic kidney disease	11.1
6	cholestasis, progressive familial intrahepatic, 5	11.1
7	hepatocellular carcinoma	10.9
8	hepatitis	10.7
9	hepatitis b	10.5
10	adenocarcinoma	10.5
11	gastric cancer	10.4
12	neural tube defects	10.4
13	down syndrome	10.4
14	hepatitis c	10.4
15	germ cells tumors	10.4
16	anencephaly	10.3
17	endodermal sinus tumor	10.3
18	teratoma	10.3
19	hepatoblastoma	10.3
20	aging	10.3
21	neural tube defects, folate-sensitive	10.3
22	liver disease	10.3
23	leydig cell tumor	10.2
24	sertoli-leydig cell tumor	10.2
25	acinar cell carcinoma	10.2
26	seminoma	10.2
27	pancreatitis	10.2
28	oligohydramnios	10.2
29	breast cancer	10.1
30	liver cirrhosis	10.1
31	gastric adenocarcinoma	10.1
32	beckwith-wiedemann syndrome	10.1
33	renal cell carcinoma, nonpapillary	10.1
34	hepatitis c virus	10.1
35	cholangiocarcinoma	10.1
36	sacrococcygeal teratoma	10.1
37	viral hepatitis	10.1
38	endotheliitis	10.1
39	aplasia cutis congenita, nonsyndromic	10.0
40	hepatoid adenocarcinoma	10.0
41	pre-eclampsia	10.0
42	eclampsia	10.0
43	prostatitis	10.0
44	testicular cancer	10.0
45	cystadenocarcinoma	10.0
46	aplasia cutis congenita	10.0
47	malignant germ cell tumor	10.0
48	triploidy	10.0
49	hypoxia	10.0
50	wilms tumor 5	9.9

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

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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

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Drugs & Therapeutics for Alpha-Fetoprotein Deficiency

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

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Genetic Tests for Alpha-Fetoprotein Deficiency

Genetic tests related to Alpha-Fetoprotein Deficiency:

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

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Anatomical Context for Alpha-Fetoprotein Deficiency

MalaCards organs/tissues related to Alpha-Fetoprotein Deficiency:

⁴¹

Liver

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Publications for Alpha-Fetoprotein Deficiency

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Genes for Alpha-Fetoprotein Deficiency

Genes related to Alpha-Fetoprotein Deficiency (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	AFP	Alpha Fetoprotein	Protein Coding	1377.66	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	18854864 15280901

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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

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Expression for Alpha-Fetoprotein Deficiency

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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