MCID: ANN002
MIFTS: 44

Anencephaly malady

Neuronal diseases category

Summaries for Anencephaly

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Sources:
42NIH Rare Diseases, 43NINDS, 21Genetics Home Reference, 63Wikipedia, 32MalaCards
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NINDS: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. 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 pralidoxime and obidoxime have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and skin, and related mouse phenotypes are hearing/vestibular/ear and vision/eye.

NIH Rare Diseases:42 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

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).

Wikipedia:63 Anencephaly is the absence of a major portion of the brain, skull, and scalp that occurs during... more...

Aliases & Classifications for Anencephaly

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Sources:
42NIH Rare Diseases, 21Genetics Home Reference, 43NINDS, 44Novoseek, 25ICD10
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Classifications:

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


Aliases & Descriptions:

anencephaly 42 21 43 44
aprosencephaly 21 44
absence of a large part of the brain and the skull 42
congenital absence of brain 21
anencephalus 21
anencephalia 21


External Ids:

ICD1025 Q00.0

Related Diseases for Anencephaly

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17GeneCards, 18GeneDecks
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Diseases related to Anencephaly via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 127)
idRelated DiseaseScoreTop Affiliating Genes
1spina bifida31.3FOLR1, VANGL1, AFP, MTR, MTHFR, MTHFD1
2neural tube defects30.3VANGL1, CELSR1
3cleft lip30.1MTRR, MTHFR, MTR
4hydrocephalus30.0AFP
5placental abruption30.0AFP, MTHFR
6myelomeningocele29.8MTHFR
7pre-eclampsia29.8AFP
8eclampsia29.8MTHFR
9gastroschisis29.8AFP, ACHE
10obesity29.8BCHE, GRP
11down syndrome29.7STS, CGA, CGB5, MTRR, MTHFR, MTR
12xk aprosencephaly10.6
13isolated anencephaly/exencephaly10.3
14aprosencephaly cerebellar dysgenesis10.2
15craniorachischisis10.2
16polydactyly10.2
17iniencephaly10.2
18microcephaly10.1
19neuronitis10.1
20cleft palate10.1
21anencephaly and spina bifida x-linked10.1
22encephalocele anencephaly10.1
23meningocele10.0
24acrocallosal syndrome10.0
25hydrolethalus syndrome10.0
26holoprosencephaly10.0
27congenital heart defect10.0MTHFR
28hypertension10.0MTHFR
29cervical intraepithelial neoplasia10.0MTHFR
30infertility10.0CGA
31vascular disease10.0BCHE
32glaucoma10.0ACHE
33vitiligo10.0BCHE
34thrombophilia10.0MTHFR
35lung cancer10.0GRP
36bronchopulmonary dysplasia10.0GRP
37hypothyroidism10.0CGA
38diabetes mellitus10.0MTHFR, BCHE
39omphalocele10.0AFP, ACHE
40male germ cell tumor, somatic10.0CGA, AFP
41pancreatic cancer10.0GRP
42antiphospholipid syndrome10.0MTHFR
43hellp syndrome10.0BCHE, MTHFR
44prostate cancer10.0GRP, STS
45hepatitis10.0AFP
46ovarian hyperstimulation syndrome10.0CGB5, CGA
47colon adenocarcinoma10.0GRP, FOLR1
48azoospermia10.0CGB5, CGA
49polycystic ovary syndrome10.0CGB5, CGA
50extragonadal germ cell tumor10.0CGB5, AFP

Graphical network of the top 20 diseases related to Anencephaly:



Diseases related to anencephaly

Clinical Features for Anencephaly

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Drugs & Therapeutics for Anencephaly

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Anencephaly

Drug clinical trials:

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Search NIH Clinical Center for Anencephaly

Search CenterWatch for Anencephaly

Genetic Tests for Anencephaly

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Anatomical Context for Anencephaly

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Sources:
30LifeMap Discovery™, 32MalaCards
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MalaCards organs/tissues related to Anencephaly:

32
Brain, Bone, Skin, Spinal cord

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

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36MGI
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MGI Mouse Phenotypes related to Anencephaly:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.7FOLR1, FOXN1, VANGL1, ACHE, CELSR1
2MP:00053918.3MTHFR, MARCKSL1, KIF7, ACHE, CELSR1, FOLR1
3MP:00053898.2FOXN1, CGA, MTHFR, AFP, MARCKSL1, KIF7
4MP:00053787.4FOLR1, FOXN1, CGA, MTRR, MTHFD1, MTHFR
5MP:00036317.3FOLR1, CGA, MTHFR, PRICKLE1, MARCKSL1, VANGL1
6MP:00053766.9MTHFD1, MTRR, CGA, FOXN1, FOLR1, MTHFR
7MP:00107686.2CELSR1, FOLR1, FOXN1, MTHFD1, MTHFR, MTR

Publications for Anencephaly

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Genetic Variations for Anencephaly

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Expression for genes affiliated with Anencephaly

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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Sources:
53Reactome, 37NCBI BioSystems Database, 49PharmGKB, 29KEGG
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Compounds for genes affiliated with Anencephaly

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Sources:
44Novoseek, 11DrugBank, 59Tocris Bioscience, 24HMDB, 49PharmGKB, 28IUPHAR
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Compounds related to Anencephaly according to GeneCards/GeneDecks:

(show top 50)    (show all 150)
idCompoundScoreTop Affiliating Genes
1pralidoxime44 1111.3ACHE, BCHE
2obidoxime4410.3ACHE, BCHE
3thiocholine4410.3BCHE, ACHE
4bw 284 c 514410.3ACHE, BCHE
5Demecarium1110.3BCHE, ACHE
6acetylthiocholine4410.2ACHE, BCHE
7o-nitroacetanilide4410.2BCHE, ACHE
8echothiophate44 1111.2BCHE, ACHE
9rivastigmine tartrate5910.2ACHE, BCHE
10butyrylthiocholine44 1111.1ACHE, BCHE
11glutamate4410.1ACHE, CGA, BCHE
12butyrylcholine4410.1BCHE, ACHE
13ambenonium44 1111.1ACHE, BCHE
14benzoylcholine4410.0ACHE, BCHE
15methyl-group4410.0MTHFR, MTR
16acephate59 4411.0ACHE, BCHE
17donepezil hydrochloride5910.0BCHE, ACHE
1811-ketotestosterone4410.0CGA, CGB5
19oestriol449.9CGA, CGB5, AFP
20methylcobalamin44 2410.9MTR, MTRR, MTHFR
21b vitamins449.9MTR, MTRR, MTHFR
22cyanocobalamin49 11 2411.9MTR, MTHFR, MTRR
23hydroxocobalamin44 1110.9MTRR, MTR, MTHFR
24isomalathion449.9BCHE, ACHE
25tetrahydrofolate449.9MTR, MTHFR, MTRR
265,10-methenyltetrahydrofolate449.9MTR, MTHFR, MTHFD1
27betaine44 2410.8MTR, MTHFR, MTRR
28clomiphene citrate449.8AFP, CGB5, CGA
29methylmalonic acid44 2410.8MTRR, MTR, MTHFR
3010-formyltetrahydrofolate449.8MTHFR, MTR, MTHFD1
31Tetrahydrofolic acid11 2410.8MTR, MTHFR, MTHFD1
325-methyltetrahydrofolate44 1110.7MTRR, FOLR1, MTHFR, MTR
33vitamin b12449.7AFP, MTHFR, MTRR, MTR
34galanthamine hydrobromide599.7BCHE, ACHE
35cystathionine449.6MTHFR, MTHFD1, MTR, MTRR
36cobalamin44 2410.5MTRR, MTHFD1, MTHFR, MTR
37carbon449.5AFP, MTHFR, MTR, CGA, BCHE
38cyclophosphamide44 49 1111.4CGA, CGB5, MTHFR, AFP, BCHE
39homocysteine44 2410.3FOLR1, MTRR, MTHFD1, MTHFR, MTR
40cetrorelix44 28 1111.2GRP, CGB5, CGA
41methionine449.2MTR, MTRR, MTHFD1, MTHFR, FOLR1
42irinotecan44 49 1111.2MTHFR, AFP, BCHE, ACHE, GRP
43serine449.1BCHE, STS, CGA, AFP, MARCKSL1, ACHE
44aspirin44 49 28 2411.8MTHFR, CGB5, BCHE, GRP, CGA
45aspartate448.6CGA, BCHE, MTRR, MTHFR, MTR, AFP
46thymidylate448.5GRP, MTR, MTHFR, MTHFD1, FOLR1, MTRR
47folate448.4FOLR1, AFP, CGA, CGB5, MTHFD1, MTRR
48methotrexate44 49 1110.4FOLR1, CGA, CGB5, MTHFD1, MTHFR, MTR
49creatinine448.2BCHE, GRP, AFP, MTR, MTHFR, CGB5
50cisplatin44 49 59 1111.0AFP, GRP, MTR, BCHE, FOLR1, CGA

GO Terms for genes affiliated with Anencephaly

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16Gene Ontology
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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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  • Antibodies
  • Proteins
  • Lysates
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Sources for Anencephaly

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet