MCID: ANN002
MIFTS: 53

Anencephaly malady

Neuronal category

Summaries for Anencephaly

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 44NINDS, 64Wikipedia, 33MalaCards
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NINDS:44 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.

MalaCards: Anencephaly, also known as aprosencephaly, is related to spina bifida and neural tube defects. An important gene associated with Anencephaly is AFP (alpha-fetoprotein), and among its related pathways are Insulin Processing and methionine degradation I (to homocysteine). The compounds Demecarium and Isoflurophate have been mentioned in the context of this disorder. Affiliated tissues include skin, spinal cord and brain, and related mouse phenotypes are hearing/vestibular/ear and vision/eye.

Genetics Home Reference:21 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).

NIH Rare Diseases:43 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. last updated: 11/28/2011

Wikipedia:64 Anencephaly is the absence of a major portion of the brain, skull, and scalp that occurs during... more...

Aliases & Classifications for Anencephaly

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 44NINDS, 45Novoseek, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal


Aliases & Descriptions:

anencephaly 43 21 44 45
aprosencephaly 21 45
absence of a large part of the brain and the skull 43
congenital absence of brain 21
anencephalus 21
anencephalia 21


External Ids:

ICD1025 Q00.0

Related Diseases for Anencephaly

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Anencephaly via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 133)
idRelated DiseaseScoreTop Affiliating Genes
1spina bifida31.3FOLR1, VANGL1, AFP, MTR, MTHFR, MTHFD1
2neural tube defects30.7VANGL1, CELSR1
3myelomeningocele30.2MTHFR
4omphalocele30.2AFP, ACHE
5down syndrome30.0STS, CGA, CGB5, MTRR, MTHFR, MTR
6placental abruption30.0AFP, MTHFR
7eclampsia29.8MTHFR
8gastroschisis29.8AFP, ACHE
9xk aprosencephaly10.6
10exencephaly10.4
11encephalocele anencephaly10.3
12iniencephaly10.3
13aprosencephaly cerebellar dysgenesis10.2
14encephalocele10.2
15isolated anencephaly/exencephaly10.2
16polydactyly10.2
17microcephaly10.1
18cleft palate10.1
19amniotic band syndrome10.1
20anencephaly and spina bifida x-linked10.1
21craniorachischisis10.1
22sirenomelia10.1
23meningocele10.0
24acrocallosal syndrome10.0
25hydrolethalus syndrome10.0
26holoprosencephaly10.0
27turner syndrome10.0
28spina bifida cystica10.0
29cerebellar hypoplasia10.0
30rhombencephalosynapsis10.0
31congenital heart defect10.0MTHFR
32hypertension10.0MTHFR
33pre-eclampsia10.0AFP
34cervical intraepithelial neoplasia10.0MTHFR
35infertility10.0CGA
36vascular disease10.0BCHE
37glaucoma10.0ACHE
38vitiligo10.0BCHE
39thrombophilia10.0MTHFR
40lung cancer10.0GRP
41bronchopulmonary dysplasia10.0GRP
42hypothyroidism10.0CGA
43diabetes mellitus10.0MTHFR, BCHE
44male germ cell tumor, somatic10.0CGA, AFP
45pancreatic cancer10.0GRP
46antiphospholipid syndrome10.0MTHFR
47hellp syndrome10.0BCHE, MTHFR
48prostate cancer10.0GRP, STS
49hepatitis10.0AFP
50obesity10.0BCHE, GRP

Graphical network of the top 20 diseases related to Anencephaly:



Diseases related to anencephaly

Clinical Features for Anencephaly

Drugs & Therapeutics for Anencephaly

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Anencephaly

Drug clinical trials:

Search ClinicalTrials for Anencephaly

Search NIH Clinical Center for Anencephaly

Search CenterWatch for Anencephaly

Genetic Tests for Anencephaly

Anatomical Context for Anencephaly

Sources:
31LifeMap Discovery™, 33MalaCards
See all sources

MalaCards organs/tissues related to Anencephaly:

33
Skin, Spinal cord, Brain, Lung, Uterus, Thymus, Cortex, Heart, Skeletal muscle, Thyroid, Adrenal gland, Placenta, Prostate, T cells, Fetal brain, Fetal lung, Fetal thyroid, Adrenal cortex, Pituitary

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Anencephaly:
id TissueAnatomical CompartmentCell Relevance
1 Neural TubeNeural Tube  Affected by disease

Animal Models for Anencephaly or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Anencephaly

Sources:
51PubMed
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Articles related to Anencephaly:

(show top 50)    (show all 496)
idTitleAuthorsYear
1
Anencephaly and gastroschisis in the same foetus: a rarity. (23520683)
2012
2
Monochorionic diamniotic twins concordant for anencephaly: a case report. (19639932)
2009
3
Anencephaly in Singapore: vanquished or vanishing? (17245507)
2007
4
Familial exencephaly--anencephaly sequence and translocation. (17464825)
2007
5
Partial duplication 2p as the sole abnormality in two cases with anencephaly. (14699616)
2004
6
Early delivery of a fetus with anencephaly. (16206470)
2003
7
Termination rates after prenatal diagnosis of Down syndrome, spina bifida, anencephaly, and Turner and Klinefelter syndromes: a systematic literature review. European Concerted Action: DADA (Decision-making After the Diagnosis of a fetal Abnormality). (10521836)
1999
8
Folic-acid-preventable spina bifida and anencephaly. (10063685)
1998
9
Major gene is responsible for anencephaly among Iranian Jews. (7747793)
1995
10
Don't we know how to care for an infant with anencephaly? (7950139)
1994
11
Folic acid-preventable spina bifida and anencephaly. (8437310)
1993
12
Sirenomelia and anencephaly. (1867259)
1991
13
Ocular anomalies in anencephaly: a clinicopathological study of 11 globes. (1933664)
1991
14
The infant with anencephaly. The Medical Task Force on Anencephaly. (2406598)
1990
15
Anencephaly at Ramathibodi Hospital. (3263457)
1988
16
The value of chromosome analysis in cases of neural tube defects: a case of anencephaly associated with fetal dup(2)(p24----pter). (3317387)
1987
17
The effects of dexamethasone and anencephaly on newborn serum levels of apolipoprotein A-1. (3119648)
1987
18
Anencephaly and the nature of fetal response to vibroacoustic stimulation. (3755921)
1986
19
Anencephaly with encephalocele in craniopagus twins: prenatal diagnosis by ultrasonography and computed tomography. (3903203)
1985
20
Congenital malformations associated with anencephaly in liveborn and stillborn infants. (4082066)
1985
21
Investigation of a cluster of anencephaly and spina bifida. (6383023)
1984
22
Calvarial defect in human anencephaly. (6740503)
1984
23
Spina bifida and anencephaly. (6409339)
1983
24
Cellular zinc accumulation in anencephaly and spina bifida. (6372302)
1983
25
Seasonality, Down's syndrome, anencephaly, and Turner's syndrome. (6135867)
1983
26
Anencephaly in the Netherlands: a remarkable decline. (6129391)
1983
27
Zinc deficiency and anencephaly in Turkey. (7444799)
1980
28
The cranial base in anencephaly and microcephaly studied histologically. (7233332)
1980
29
Anencephaly and twinning. (715731)
1978
30
Maternal hyperthermia and anencephaly. (76216)
1978
31
Hyperthermia and meningomyelocele and anencephaly. (76770)
1978
32
Prenatal diagnostic studies in a case of twins discordant for anencephaly. (263450)
1978
33
Miscarriages as a cause of spina bifida and anencephaly. (912361)
1977
34
Maternal serum-A.F.P. in twin pregnance discordant for anencephaly. (63679)
1977
35
Anencephaly and spina bifida: two unsolved problems. (327449)
1977
36
Maternal serum-alpha-fetoprotein measurement in antenatal screening for anencephaly and spina bifida in early pregnancy. Report of U.K. collaborative study on alpha-fetoprotein in relation to neural-tube defects. (69055)
1977
37
Experimental fetal anencephaly in the rhesus monkey: effect on gestational length and fetal and maternal plasma steroids. (411801)
1977
38
Comparison of alphafetoprotein and beta-trace protein in the antenatal diagnosis of anencephaly and spina bifida. (57018)
1976
39
Female excess in anencephaly and spina bifida: possible gestational influences. (1091146)
1975
40
Letter: Subfertility and anencephaly. (4132018)
1974
41
Letter: Anencephaly, spina bifida, dizygotic twinning, and hormones. (4133639)
1974
42
Prevention of anencephaly and spina bifida in man. (4588395)
1973
43
Letter: Multiple ovulation and risk of anencephaly and spina bifida. (4128037)
1973
44
Endocrine studies in anencephaly. (4198108)
1973
45
Alpha-fetoprotein levels in amniotic fluid in normal pregnancy and in pregnancy complicated by anencephaly. (4761379)
1973
46
Anencephaly: early ultrasonic diagnosis and active management. (4117712)
1972
47
Unrecognised epidemic of anencephaly and spina bifida. (4099330)
1971
48
The human hypophysis in anencephaly. I. Ultrastructure of the pars distalis. (5763625)
1969
49
Anencephaly. A 6 year study of 367 cases. (5774693)
1969
50
Anencephaly and spina bifida. (4885920)
1968

Genetic Variations for Anencephaly

Expression for genes affiliated with Anencephaly

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Anencephaly

Search GEO for disease gene expression data for Anencephaly.

Pathways for genes affiliated with Anencephaly

Sources:
54Reactome, 38NCBI BioSystems Database, 30KEGG, 50PharmGKB
See all sources

Compounds for genes affiliated with Anencephaly

Sources:
11DrugBank, 45Novoseek, 24HMDB, 50PharmGKB, 60Tocris Bioscience, 29IUPHAR
See all sources

Compounds related to Anencephaly according to GeneCards/GeneDecks:

(show top 50)    (show all 150)
idCompoundScoreTop Affiliating Genes
1Demecarium1110.3BCHE, ACHE
2Isoflurophate1110.3ACHE, BCHE
3Methylphosphinic Acid1110.3ACHE, BCHE
4ambenonium45 1111.3BCHE, ACHE
5obidoxime4510.3BCHE, ACHE
6pralidoxime45 1111.2ACHE, BCHE
7acetylthiocholine4510.2ACHE, BCHE
8isomalathion4510.2ACHE, BCHE
9thiocholine4510.2ACHE, BCHE
10choline ester4510.2ACHE, BCHE
11bw 284 c 514510.1ACHE, BCHE
12glutamate4510.1BCHE, CGA, ACHE
13o-nitroacetanilide4510.1ACHE, BCHE
14methyl-group4510.1MTR, MTHFR
15alpha-solanine4510.1BCHE, ACHE
16butyrylthiocholine45 1111.0BCHE, ACHE
17butyrylcholine4510.0BCHE, ACHE
18fasciculin4510.0ACHE, BCHE
19oestriol459.9AFP, CGB5, CGA
20methylcobalamin45 2410.9MTHFR, MTRR, MTR
21b vitamins459.9MTHFR, MTRR, MTR
22hydroxocobalamin45 1110.9MTR, MTHFR, MTRR
23cyanocobalamin50 11 2411.9MTR, MTHFR, MTRR
24benzoylcholine459.9BCHE, ACHE
25tetrahydrofolate459.9MTHFR, MTRR, MTR
26betaine45 2410.9MTRR, MTHFR, MTR
275,10-methenyltetrahydrofolate459.8MTHFR, MTR, MTHFD1
28clomiphene citrate459.8CGA, CGB5, AFP
29methylmalonic acid45 2410.8MTHFR, MTR, MTRR
3010-formyltetrahydrofolate459.8MTHFD1, MTHFR, MTR
31Tetrahydrofolic acid11 2410.8MTR, MTHFR, MTHFD1
325-methyltetrahydrofolate45 1110.7FOLR1, MTR, MTHFR, MTRR
33vitamin b12459.7MTHFR, MTR, MTRR, AFP
34galanthamine hydrobromide609.7ACHE, BCHE
35cystathionine459.6MTRR, MTR, MTHFR, MTHFD1
36cobalamin45 2410.5MTHFD1, MTRR, MTR, MTHFR
37carbon459.5MTHFR, MTR, AFP, BCHE, CGA
38cyclophosphamide45 50 1111.4CGB5, CGA, MTHFR, AFP, BCHE
39homocysteine45 2410.3MTR, MTHFR, MTHFD1, MTRR, FOLR1
40cetrorelix45 29 1111.2GRP, CGA, CGB5
41methionine459.2MTHFD1, FOLR1, MTHFR, MTR, MTRR
42irinotecan45 50 1111.2AFP, MTHFR, ACHE, BCHE, GRP
43serine459.1BCHE, STS, CGA, AFP, MARCKSL1, ACHE
44aspirin45 50 29 2411.8MTHFR, CGB5, CGA, BCHE, GRP
45aspartate458.6MTRR, MTR, BCHE, AFP, CGA, MTHFR
46thymidylate458.5FOLR1, MTRR, MTHFD1, MTHFR, MTR, GRP
47folate458.4MTHFD1, FOLR1, CGA, CGB5, MTRR, AFP
48methotrexate45 50 1110.4FOLR1, CGA, CGB5, MTHFD1, MTHFR, MTR
49creatinine458.2GRP, MTHFR, AFP, MTR, CGB5, BCHE
50cisplatin45 50 60 1111.0MTR, BCHE, GRP, MTHFR, CGB5, CGA

GO Terms for genes affiliated with Anencephaly

Sources:
16Gene Ontology
See all sources

Biological processes related to Anencephaly according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1choline metabolic processGO:01969510.0BCHE, ACHE
2synaptic transmission, cholinergicGO:00727110.0BCHE, ACHE
3folic acid metabolic processGO:0466559.8MTHFR, MTHFD1, FOLR1
4tetrahydrofolate interconversionGO:0359999.8MTHFD1, MTHFR
5methionine biosynthetic processGO:0090869.7MTHFR, MTHFD1, MTRR
6methylationGO:0322599.4MTR, MTRR
7water-soluble vitamin metabolic processGO:0067679.2MTRR, MTHFD1, MTHFR, MTR
8vitamin metabolic processGO:0067669.2MTRR, MTHFD1, MTHFR, MTR

Molecular functions related to Anencephaly according to GeneCards/GeneDecks:

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

Products for genes affiliated with Anencephaly

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Sources for Anencephaly

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet