Summaries for Anencephaly

Sources:
17Genetics Home Reference, 30NIH Rare Diseases, 31NINDS, 44Wikipedia, 22MalaCards
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NINDS: Anencephaly is a defect in the closure of the neural tube during fetal development. The neural tube is a narrow channel that folds and closes between the 3rd and 4th weeks of pregnancy to form the brain and spinal cord of the embryo. Anencephaly occurs when the "cephalic" or head end of the neural tube fails to close, resulting in the absence of a major portion of the brain, skull, and scalp. Infants with this disorder are born without a forebrain (the front part of the brain) and a cerebrum (the thinking and coordinating part of the brain). The remaining brain tissue is often exposed--not covered by bone or skin. A baby born with anencephaly is usually blind, deaf, unconscious, and unable to feel pain. Although some individuals with anencephaly may be born with a rudimentary brain stem, the lack of a functioning cerebrum permanently rules out the possibility of ever gaining consciousness. Reflex actions such as breathing and responses to sound or touch may occur.31

MalaCards: Anencephaly, also known as aprosencephaly, is related to coronary artery anomaly and congenital heart defect. An important gene associated with Anencephaly is AFP (alpha-fetoprotein), and among its related pathways are One carbon pool by folate and Antimetabolite Pathway - Folate Cycle, Pharmacodynamics. The compounds fasciculin and Demecarium have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and skin, and related mouse phenotypes are growth/size and reproductive system.

Genetics Home Reference: Anencephaly is a condition that prevents the normal development of the brain and the bones of the skull. This condition results when a structure called the neural tube fails to close during the first few weeks of embryonic development. The neural tube is a layer of cells that ultimately develops into the brain and spinal cord. Because anencephaly is caused by abnormalities of the neural tube, it is classified as a neural tube defect (NTD).17

NIH Rare Diseases: Anencephaly is a defect in the closure of the neural tube during fetal development. The neural tube is a narrow channel that folds and closes between the 3rd and 4th weeks of pregnancy to form the brain and spinal cord of the embryo. Anencephaly occurs when the 'cephalic' or head end of the neural tube fails to close, resulting in the absence of a major portion of the brain, skull, and scalp. Infants with this disorder are born without a forebrain (the front part of the brain) and a cerebrum (the thinking and coordinating part of the brain). The remaining brain tissue is often exposed (not covered by bone or skin). A baby born with anencephaly is usually blind, deaf, unconscious, and unable to feel pain. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days. Reflex actions such as breathing and responses to sound or touch may occur.30

Wikipedia: Anencephaly is a cephalic disorder that results from a neural tube defect that occurs when the rostral...44 more...

Aliases & Descriptions for Anencephaly

Sources:
30NIH Rare Diseases, 17Genetics Home Reference, 31NINDS, 32Novoseek , 43UMLS
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anencephaly 30 17 31 32
aprosencephaly 17 32
absence of a large part of the brain and the skull 30
congenital absence of brain 17
neonatal hemochromatosis 43
anencephalia 17
anencephalus 17

Related Diseases for Anencephaly

Sources:
13GeneCards, 14GeneDecks
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Diseases related to anencephaly by text searches and GeneDecks gene sharing:

(show top 50)    (show all 252)
idRelated DiseaseScoreTop Affiliating Genes
1coronary artery anomaly27.7MTR, MTHFR, MTRR, BCHE
2congenital heart defect27.4AFP, MTHFD1, MTR, MTHFR, MTRR
3twinning26.4AFP, ACHE, CGB5, CGA, MTR, MTHFR
4myelomeningocele26.0PRICKLE1, MTHFD1, MTR, MTHFR, MTRR, VANGL1
5neural tube defect25.3AFP, PRICKLE1, ACHE, MARCKSL1, FOXN1, FOLR1
6spina bifida24.6FOLR1, CGB5, MTHFD1, MTR, MTHFR, MTRR
7polyembryoma13.6CGA, AFP
8ovarian mixed germ cell neoplasm13.6AFP, CGA
9pseudocholinesterase deficiency13.5BCHE, ACHE
10abdominal wall defect13.5ACHE, AFP
11epidermolysis bullosa with pyloric atresia13.5ACHE, AFP
12cutis marmorata telangiectatica congenita13.5AFP, CGA
13mature teratoma13.5AFP, CGA
14congenital nephrotic syndrome finnish type13.4AFP, ACHE
15malignant sertoli cell tumor13.4AFP, CGB5
16malignant germ cell tumor13.4AFP, CGB5
17gastroschisis13.3AFP, ACHE, MTHFR
18extragonadal germ cell tumor13.3AFP, CGB5
195-alpha reductase deficiency13.3CGA, CGB5
20anorchia13.3CGB5, CGA
21sacrococcygeal teratoma13.3AFP, CGA
22mthfr deficiency13.2MTHFR, MTR
23nonseminomatous germ cell tumor13.2CGA, CGB5, AFP
24placental site trophoblastic tumor13.2CGA, CGB5
25hydrocele13.2AFP, CGB5, CGA
26gestational trophoblastic neoplasm13.2AFP, CGB5, CGA
27epithelioid trophoblastic tumor13.2CGB5, CGA
28vitamin b12 deficiency13.2MTR, MTHFR
29trophoblastic neoplasm13.2CGB5, CGA
30germinoma13.2CGA, CGB5, AFP
31dysgerminoma13.1AFP, CGB5, CGA
32endodermal sinus tumor13.1AFP, CGB5
33virilization13.1AFP, CGB5, CGA
34neural tube defects, folate-sensitive13.1MTRR, MTR
35homocystinuria-megaloblastic anemia13.1MTRR, MTR
36methylcobalamin deficiency13.1MTRR, MTR
37kallmann syndrome13.1CGA, CGB5, STS
38sycp3-related pregnancy loss, susceptibility to13.1CGB5, CGA, MTHFR
39cble13.1MTR, MTRR
40gestational trophoblastic tumor13.1CGB5, CGA
41vascular dementia13.1BCHE, MTHFR, ACHE
42ovarian cyst13.1CGB5, CGA
43cerebellar ataxia13.1KIF7, FOLR1, ACHE, AFP
44leydig cell tumor13.1AFP, CGB5, CGA
45disorders of intracellular cobalamin metabolism13.1MTRR, MTR
46folic acid deficiency anemia13.1MTHFR, MTR, FOLR1
47pediatric osteosarcoma13.0MTHFR, MTR, FOLR1
48hellp syndrome13.0CGB5, MTHFR, BCHE
49familial male-limited precocious puberty13.0AFP, CGB5, CGA
50thrombophilia12.9MTHFD1, MTHFR, MTRR

Graphical network of the top 20 diseases related to anencephaly:



Graphical network of diseases related to anencephaly

Clinical Features for Anencephaly

Drugs & Therapeutics for Anencephaly

Sources:
4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for anencephaly

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Genetic Tests for Anencephaly

Anatomical Context for Anencephaly

Sources:
22MalaCards
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MalaCards organs/tissues related to anencephaly:

22
Brain, Spinal cord, Skin, Fetal brain

Phenotypes for genes affiliated with Anencephaly

Sources:
25MGI
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MGI Mouse Phenotypes related to anencephaly:

25
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1growth/size phenotypeMP:0005378INFCGA, VANGL1, ACHE, FOXN1, MTRR, FOLR1
2reproductive system phenotypeMP:0005389INFVANGL1, , BCHE, , AFP, ACHE
3homeostasis/metabolism phenotypeMP:00053767.0KIF7, ACHE, FOXN1, FOLR1, CGA, MTHFD1
4embryogenesis phenotypeMP:0005380INFPRICKLE1, MARCKSL1, FOLR1, KIF7, VANGL1,
5mortality/agingMP:0010768INF, AFP, PRICKLE1, ACHE, FOXN1, MARCKSL1
6vision/eye phenotypeMP:0005391INFACHE, MARCKSL1, FOLR1, , MTHFR,
7nervous system phenotypeMP:0003631INFKIF7, ACHE, FOLR1, , CGA, MTHFR
8limbs/digits/tail phenotypeMP:0005371INFVANGL1, , MTHFR, , , KIF7
9hearing/vestibular/ear phenotypeMP:0005377INFFOLR1, ACHE, VANGL1, , ,

Publications for genes affiliated with Anencephaly

Sources:
35PubMed
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Articles related to anencephaly:

idTitleAuthorsYearAffiliating Genes
1FOXN1 homozygous mutation associated with anencephaly and severe neural tube defect in human athymic Nude/SCID fetus. (18339010)Amorosi S.... Pignata C.2008FOXN1
2Methylenetetrahydrofolate reductase gene polymorphisms and the risk of anencephaly in Mexico. (17439956)Munoz J.B.... Garduno C.A.2007MTHFR
3Concordant anencephaly in monoamniotic twins and an analysis of maternal serum markers. (9178324)Hansen L.M.... Donnenfeld A.E.1997CGA
4Disruption of the MacMARCKS gene prevents cranial neural tube closure and results in anencephaly. (8692805)Chen J.... Aderem A.1996MARCKSL1
5Pulmonary gastrin-releasing peptide expression in anencephaly. (8597825)Jaramillo M.A.... Margraf L.R.1995GRP
6Second-trimester levels of maternal serum unconjugated oestriol and human chorionic gonadotropin in pregnancies affected by fetal anencephaly and open spina bifida. (2284275)Canick J.A.... Haddow J.E.1990CGB5

Expression for genes affiliated with Anencephaly

Sources:
1BioGPS
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Expression patterns in normal tissues for genes affiliated with Anencephaly

Pathways for genes affiliated with Anencephaly

Sources:
20KEGG, 34PharmGKB
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Compounds for genes affiliated with Anencephaly

Sources:
32Novoseek , 9DrugBank, 42Tocris Bioscience, 18HMDB, 34PharmGKB
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Compounds related to anencephaly according to GeneDecks:

(show top 50)    (show all 130)
idCompoundScoreTop Affiliating Genes
1fasciculin32 10.3BCHE, ACHE
2Demecarium9 9 11.3ACHE, BCHE
3Isoflurophate9 9 11.3ACHE, BCHE
4ambenonium32 9 9 12.3ACHE, BCHE
5physostigmine hemisulfate42 10.3ACHE, BCHE
6ambenonium dichloride42 10.3BCHE, ACHE
7choline ester32 10.2ACHE, BCHE
8bw 284 c 5132 10.2ACHE, BCHE
9o-nitroacetanilide32 10.2ACHE, BCHE
10acetylthiocholine32 10.2ACHE, BCHE
11benzoylcholine32 10.2ACHE, BCHE
12butyrylcholine32 10.2ACHE, BCHE
13butyrylthiocholine32 9 9 12.1ACHE, BCHE
14thiocholine32 10.1BCHE, ACHE
15obidoxime32 10.1BCHE, ACHE
16acephate42 32 11.0ACHE, BCHE
17galanthamine hydrobromide42 10.0ACHE, BCHE
18pralidoxime32 9 9 12.0ACHE, BCHE
19tacrine hydrochloride42 9.9ACHE, BCHE
2011-ketotestosterone32 9.7CGB5, CGA
215,10-methenyltetrahydrofolate32 9.7MTHFD1, MTR, MTHFR
22alpha-solanine32 9.7ACHE, BCHE
2310-formyltetrahydrofolate32 9.7MTHFD1, MTHFR, MTR
24methylcobalamin32 18 10.6MTRR, MTHFR, MTR
25b vitamins32 9.6MTR, MTHFR, MTRR
26Tetrahydrofolic acid9 18 9 11.6MTHFR, MTR, MTHFD1
27hydroxocobalamin32 9 9 11.6MTHFR, MTR, MTRR
28oestriol32 9.6CGB5, CGA, AFP
29cyanocobalamin34 9 18 9 12.6MTR, MTHFR, MTRR
30tetrahydrofolate32 9.6MTHFR, MTRR, MTR
31betaine32 18 10.6MTRR, MTHFR, MTR
32methylmalonic acid32 18 10.6MTR, MTRR, MTHFR
33clomiphene citrate32 9.5CGA, CGB5, AFP
34irinotecan32 34 9 9 12.5AFP, ACHE, GRP, MTHFR
355-methyltetrahydrofolate32 9 9 11.4FOLR1, MTR, MTHFR, MTRR
36vitamin b1232 9.4AFP, MTRR, MTHFR, MTR
37carbon32 9.4BCHE, MTHFR, MTR, CGA, AFP
38cystathionine32 9.2MTRR, MTHFD1, MTR, MTHFR
39cobalamin32 18 10.2MTHFR, MTR, MTHFD1, MTRR
40cetrorelix32 9 9 11.2CGA, GRP, CGB5
41homocysteine32 18 10.0MTRR, MTHFR, MTR, MTHFD1, FOLR1
42glutamate32 8.7GRP, MTR, MTHFR, MTRR, BCHE
43aspirin32 34 18 10.6GRP, CGB5, CGA, MTHFR, BCHE
44aspartate32 8.6MTRR, MTR, CGA, MARCKSL1, BCHE, AFP
45thymidylate32 8.4MTRR, GRP, FOLR1, MTR, MTHFR, MTHFD1
46methotrexate32 34 42 9 9 12.2AFP, FOLR1, CGB5, CGA, MTR, MTHFR
47creatinine32 7.9CGA, GRP, AFP, BCHE, MTHFR, MTR
48folate32 7.7CGB5, MTRR, MTHFR, MTR, MTHFD1, CGA
49cisplatin32 34 9 9 10.7CGB5, BCHE, MTHFR, MTR, CGA, FOLR1
50serine32 6.1BCHE, AFP, STS, ACHE, MTRR, MTHFR

GO Terms for genes affiliated with Anencephaly

Sources:
12Gene Ontology
See all sources

Biological processes related to anencephaly according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1establishment of planar polarityGO:001736INF,
2tetrahydrofolate interconversionGO:0359999.7MTHFD1, MTHFR
3homocysteine metabolic processGO:0506679.7MTHFR, MTR
4folic acid metabolic processGO:0466559.6MTHFD1, MTHFR, FOLR1
5methionine biosynthetic processGO:0090869.4MTHFD1, MTHFR, MTRR
6neural tube closureGO:001843INF, , , PRICKLE1

Molecular functions related to anencephaly according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cholinesterase activityGO:00410410.0BCHE, ACHE
2acetylcholinesterase activityGO:0039909.7BCHE, ACHE

Sources for Anencephaly

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS