MCID: ANN002
MIFTS: 58

Anencephaly malady

Rare diseases, Neuronal diseases categories

Summaries for Anencephaly

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44NIH Rare Diseases, 45NINDS, 66Wikipedia, 34MalaCards
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NINDS:45 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 Folate Metabolism and folate polyglutamylation. The compounds choline ester and fasciculin have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and bone, and related mouse phenotypes are vision/eye and growth/size/body.

NIH Rare Diseases: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.Ā 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:66 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:
44NIH Rare Diseases, 22Genetics Home Reference, 45NINDS, 46Novoseek, 26ICD10
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Classifications:

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


Aliases & Descriptions:

anencephaly 44 22 45 46
aprosencephaly 22 46
absence of a large part of the brain and the skull 44
congenital absence of brain 22
anencephalus 22
anencephalia 22


External Ids:

ICD1026 Q00.0

Related Diseases for Anencephaly

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Sources:
18GeneCards, 19GeneDecks
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Diseases related to Anencephaly via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 137)
idRelated DiseaseScoreTop Affiliating Genes
1spina bifida31.3MTRR, AFP, FOLR1, MTHFR, MTHFD1, MTR
2neural tube defects30.4MTRR, MTHFR, MTHFD1, AFP, CGA, MTR
3omphalocele30.4ACHE, AFP
4cleft lip30.2MTRR, MTHFR, MTR
5placental abruption30.2AFP, MTHFR
6gastroschisis30.0ACHE, AFP
7edwards syndrome30.0CGA, AFP
8pre-eclampsia29.8CGA, ACHE, AFP, CGB5, MTHFR, BCHE
9down syndrome29.6MTR, AFP, MTRR, CGB5, CGA, ACHE
10exencephaly10.4
11iniencephaly10.4
12isolated anencephaly/exencephaly10.3
13aprosencephaly cerebellar dysgenesis10.3
14craniorachischisis10.3
15encephalocele10.3
16encephaloceles10.3
17polydactyly10.2
18neuronitis10.1
19microcephaly10.1
20amniotic band syndrome10.1
21anencephaly and spina bifida x-linked10.1
22encephalocele anencephaly10.1
23myelomeningocele10.1
24sirenomelia10.1
25oligohydramnios10.1AFP
26x-linked ichthyosis10.1STS
27portal vein thrombosis10.1MTHFR, AFP
28male germ cell tumor, somatic10.1AFP, CGA
29germ cell cancer10.1CGA, AFP
30congenital nephrotic syndrome finnish type10.1AFP, ACHE
31hellp syndrome10.1MTHFR, BCHE
32megaloblastic anemia10.1MTR
33homocysteinemia10.1MTHFR, MTR
34lewy body dementia10.1BCHE, ACHE
35homocysteinemia due to mthfr deficiency10.1MTR, MTHFR
36vascular dementia10.1ACHE, BCHE, MTHFR
37methylmalonic acidemia10.1MTR, MTHFR
38vitamin b12 deficiency10.1MTR, MTHFR
39meningocele10.1
40acrocallosal syndrome10.1
41holoprosencephaly10.1
42hydrocephalus10.1
43spina bifida cystica10.1
44folic acid deficiency anemia10.1MTHFR, FOLR1, MTR
45hirschsprung's disease10.0ACHE, BCHE
46cerebrovascular disease10.0MTHFR, MTR, ACHE
47extragonadal germ cell tumor10.0AFP, CGB5
48leydig cell tumor10.0CGA, CGB5
49endodermal sinus tumor10.0AFP, CGB5
50neural tube defects, folate-sensitive10.0MTR, MTRR

Graphical network of the top 20 diseases related to Anencephaly:



Diseases related to anencephaly

Symptoms for Anencephaly

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Drugs & Therapeutics for Anencephaly

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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32LifeMap Discoveryā„¢, 34MalaCards
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MalaCards organs/tissues related to Anencephaly:

34
Brain, Skin, Bone, Spinal cord, Lung, Pituitary, Testes, Thyroid, Heart, Thymus, Placenta, Adrenal gland, Prostate, Uterus, Cortex, Adrenal cortex, Fetal thyroid

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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38MGI
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MGI Mouse Phenotypes related to Anencephaly:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.2FOLR1, FOXN1, MTHFR, ACHE, MARCKSL1, KIF7
2MP:00053788.1FOXN1, MTHFD1, MTHFR, MTRR, ACHE, CGA
3MP:00053897.8AFP, FOXN1, MTHFR, ACHE, MARCKSL1, BCHE
4MP:00036317.7FOLR1, MTHFD1, MTHFR, ACHE, MARCKSL1, KIF7
5MP:00107686.9AFP, FOLR1, FOXN1, MTHFD1, MTHFR, MTR
6MP:00053766.9CGA, AFP, FOLR1, FOXN1, MTHFD1, MTHFR

Publications for Anencephaly

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Sources:
53PubMed
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Articles related to Anencephaly:

(show top 50)    (show all 491)
idTitleAuthorsYear
1
Parental occupational exposure to organic solvents and anencephaly in Mexico. (19737733)
2010
2
Postnatal in-vivo MRI findings in anencephaly. (21445817)
2010
3
Bio-monitoring the elimination of folic acid-preventable spina bifida and anencephaly. (18585451)
2008
4
Interpreting changes in the epidemiology of anencephaly and spina bifida following folic acid fortification of the U.S. grain supply in the setting of long-term trends, Atlanta, Georgia, 1968-2003. (17990332)
2007
5
Embryology of myelomeningocele and anencephaly. (15209484)
2004
6
Anencephaly: structural characterization of gangliosides in defined brain regions. (11308024)
2001
7
The diurnal rhythm in fetal heart rate in a twin pregnancy with discordant anencephaly: comparison with three normal twin pregnancies. (9131306)
1997
8
Anencephaly, dorsal hypermelia, and duplication of the vertebral column: a rare type of rachipagus conjoined twins. (8864167)
1996
9
Anencephaly with spinal dysraphism, cleft lip and palate and limb reduction defects. (7981865)
1994
10
Discordant anencephaly with a cleft lip and palate in a pergonal-induced triplet pregnancy. (1453300)
1992
11
Morphological evaluation for neuronal maturation in anencephaly and encephalocele in human neonates. A proposal of reclassification of cephalic dysraphism. (2257550)
1990
12
The infant with anencephaly. (2381454)
1990
13
Sonography of anencephaly: pitfalls in early diagnosis. (2506226)
1989
14
Epidemiology of anencephaly in Texas, 1981-1986. (2756489)
1989
15
Prenatal diagnosis of anencephaly: spectrum of sonographic appearances and distinction from the amniotic band syndrome. (3044042)
1988
16
Anencephaly, other congenital malformations, and stillbirths. (3764773)
1986
17
Investigation of a cluster of anencephaly and spina bifida. (6383023)
1984
18
Survival in infants with anencephaly. (6705433)
1984
19
The mode of development of an inherited form of anencephaly in the house mouse. (7242851)
1981
20
Differences between the events preceding spina bifida and anencephaly. (7019447)
1981
21
Concordance rates in twins for anencephaly. (7189785)
1980
22
Anencephaly, twins and HLA-B27. (7431364)
1980
23
Anencephaly: an overview. (6930498)
1980
24
Anencephaly and twinning. (715731)
1978
25
Maternal hyperthermia and anencephaly. (76216)
1978
26
Evaluation of human placental lactogen (HPL) levels in anencephaly. (306506)
1978
27
Anencephaly in calves. (618715)
1978
28
Clomiphene, anencephaly, and spina bifida. (65688)
1977
29
Comparison of alphafetoprotein and beta-trace protein in the antenatal diagnosis of anencephaly and spina bifida. (57018)
1976
30
Amniotic fluid alpha2-macroglobulin and the antenatal diagnosis of spina bifida and anencephaly. (52422)
1975
31
Anencephaly, spina bifida and dizygotic twinning: a review of the data of Stevenson et al. (1091145)
1975
32
Female excess in anencephaly and spina bifida: possible gestational influences. (1091146)
1975
33
Hydrocephaly, microcephaly and anencephaly diagnosed in pregnancy by ultrasonic echography. (1196222)
1975
34
Prostaglandin f-2-alpha for the induction of labor in pregnancies complicated by intra-uterine death, anencephaly and chromosomal anomaly. (4847513)
1974
35
Early diagnosis of anencephaly. (4120657)
1973
36
Anencephaly and ovulation stimulation. (4122609)
1973
37
Anencephaly and water supply--a study of the problem in Glasgow. (4738100)
1973
38
Anencephaly and potatoes in Chile. (4119420)
1973
39
Perinatal infections and epidemiology of anencephaly and spina bifida. (4358489)
1973
40
Birth control, sex-ratio, and anencephaly. (4117426)
1972
41
Is anencephaly a single entity? A brief note on the morphologic heterogeneity of anencephaly. (5173383)
1971
42
Anencephaly and spina bifida in Israel. (4926631)
1971
43
Unrecognised epidemic of anencephaly and spina bifida. (4102210)
1971
44
Neuroschisis and human embryonic maldevelopment. New evidence on anencephaly, spina bifida and diverse mammalian defects. (4985177)
1970
45
Social factors in the incidence of spinal bifida and anencephaly. (4916232)
1970
46
The human hypophysis in anencephaly. I. Ultrastructure of the pars distalis. (5763625)
1969
47
The recurrence risk in spina bifida cystica and anencephaly. (4905060)
1969
48
The human hypophysis in anencephaly. II. Ultrastructure of the pars intermedia. (5822055)
1969
49
Acute folic acid deficiency of pregnancy associated with oral ulceration and anencephaly. (5810307)
1969
50
Vertebral and other abnormalities in parents and sibs of cases of spina bifida cystica and of anencephaly. (4896353)
1968

Variations for Anencephaly

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Expression for genes affiliated with Anencephaly

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2BioGPS, 16Gene 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:
51PathCards, 39NCBI BioSystems Database, 56Reactome, 31KEGG, 52PharmGKB, 61Thomson Reuters
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Pathways related to Anencephaly according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Vitamin B12 Metabolism39
9.8MTRR, MTHFR
2
Show member pathways
Glycine Metabolism39
glycine biosynthesis I39
folate transformations39
9.5MTR, MTHFD1
3
Show member pathways
creatine-phosphate biosynthesis39
glycine degradation (creatine biosynthesis)39
putrescine biosynthesis III39
spermidine biosynthesis I39
tryptophan degradation via kynurenine39
spermine biosynthesis39
urea cycle39
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I39
tyrosine degradation I39
L-carnitine biosynthesis39
methylthiopropionate biosynthesis39
2-oxoglutarate decarboxylation to succinyl-CoA39
S-methyl-5-thioadenosine degradation II39
9.2CGA, MTR, MTRR
4
Show member pathways
flavin biosynthesis IV (mammalian)39
molybdenum cofactor biosynthesis39
coenzyme A biosynthesis39
thiamin salvage III39
alanine biosynthesis III39
thio-molybdenum cofactor biosynthesis39
biotin-carboxyl carrier protein assembly39
8.8MTHFD1, MTHFR, MTRR, MTR
5
Show member pathways
One Carbon Metabolism39
dTMP de novo biosynthesis (mitochondrial)39
tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate39
Trans-sulfuration and one carbon metabolism39
methionine salvage39
Methionine metabolism61
8.8MTHFD1, MTHFR, MTRR, MTR
6
Show member pathways
8.2CGB5, CGA, GRP, BCHE, ACHE
7
Show member pathways
8.0CGB5, CGA, GRP, BCHE, ACHE, STS
8
Show member pathways
7.7STS, MTHFD1, MTHFR, MTRR, MTR, ACHE

Compounds for genes affiliated with Anencephaly

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Sources:
46Novoseek, 12DrugBank, 52PharmGKB, 25HMDB, 30IUPHAR, 62Tocris Bioscience
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Compounds related to Anencephaly according to GeneCards/GeneDecks:

(show top 50)    (show all 186)
idCompoundScoreTop Affiliating Genes
1choline ester4610.1ACHE, BCHE
2fasciculin4610.1ACHE, BCHE
3butyrylthiocholine46 1211.0BCHE, ACHE
4vitamin b-complex, plain5210.0MTRR, MTHFR
5butyrylcholine4610.0BCHE, ACHE
6methyl-group4610.0MTHFR, MTR
7benzoylcholine4610.0BCHE, ACHE
85-Methyltetrahydrofolic acid259.9MTHFR, MTR
9bw 284 c 51469.9BCHE, ACHE
10alpha-solanine469.9BCHE, ACHE
1111-ketotestosterone469.8CGB5, CGA
12oestriol469.8CGA, AFP, CGB5
13folic acid52 25 1211.8MTRR, FOLR1, MTHFR
14thiocholine469.8BCHE, ACHE
15clomiphene citrate469.7CGA, AFP, CGB5
165,10-methenyltetrahydrofolate469.7MTHFD1, MTHFR, MTR
1710-formyltetrahydrofolate469.7MTHFR, MTR, MTHFD1
18b vitamins469.7MTR, MTRR, MTHFR
19Tetrahydrofolic acid25 1210.7MTHFD1, MTR, MTHFR
20methylcobalamin46 2510.7MTR, MTHFR, MTRR
21cyanocobalamin52 25 1211.6MTRR, MTHFR, MTR
22hydroxocobalamin46 1210.6MTHFR, MTRR, MTR
23tetrahydrofolate469.6MTR, MTRR, MTHFR
24betaine46 2510.6MTHFR, MTR, MTRR
25pralidoxime46 1210.6BCHE, ACHE
26methylmalonic acid46 2510.6MTR, MTRR, MTHFR
275-methyltetrahydrofolate46 1210.4FOLR1, MTHFR, MTRR, MTR
28vitamin b12469.4AFP, MTHFR, MTRR, MTR
29carbon469.3AFP, MTHFR, CGA, BCHE, MTR
30cystathionine469.3MTHFR, MTHFD1, MTR, MTRR
31cobalamin46 2510.3MTR, MTRR, MTHFR, MTHFD1
32cetrorelix46 30 1211.2CGB5, CGA, GRP
33choline46 25 1211.1ACHE, BCHE, GRP, MTHFR
34irinotecan46 52 1211.0MTHFR, GRP, BCHE, AFP, ACHE
35homocysteine46 2510.0MTR, MTRR, MTHFR, FOLR1, MTHFD1
36methionine468.9MTR, MTHFR, MTHFD1, FOLR1, MTRR
37cyclophosphamide46 52 1210.8CGB5, BCHE, MTR, MTHFR, AFP, CGA
38aspirin46 52 30 2511.7MTHFR, BCHE, GRP, CGB5, CGA
39alanine468.4MTHFR, AFP, MTRR, BCHE, CGA, GRP
40testosterone46 62 25 1211.4STS, CGB5, CGA, MTHFR, AFP, GRP
41aspartate468.3CGA, BCHE, MTR, MTRR, MTHFR, AFP
42doxorubicin46 52 1210.2CGB5, AFP, FOLR1, MTR, GRP, CGA
43thymidylate468.2MTHFR, FOLR1, MTHFD1, MTRR, MTR, GRP
44creatinine468.0AFP, CGA, MTHFR, CGB5, MTR, GRP
45folate468.0CGB5, CGA, MTR, MTRR, MTHFD1, FOLR1
46methotrexate52 46 1210.0MTHFR, CGB5, MTRR, MTR, CGA, MTHFD1
47estrogen467.9GRP, CGA, CGB5, MTR, MTHFR, STS
48cisplatin46 52 62 1210.8MTHFR, MTR, AFP, FOLR1, BCHE, GRP
49glutamate467.7CGA, BCHE, AFP, MTHFR, MTR, ACHE
50serine465.7MARCKSL1, GRP, CGA, BCHE, ACHE, MTRR

GO Terms for genes affiliated with Anencephaly

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Sources:
17Gene Ontology
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Cellular components related to Anencephaly according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum lumenGO:0057889.6BCHE, ACHE, STS

Biological processes related to Anencephaly according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1choline metabolic processGO:01969510.1BCHE, ACHE
2response to folic acidGO:05159310.0MTHFR, BCHE
3tetrahydrofolate interconversionGO:03599910.0MTHFD1, MTHFR
4synaptic transmission, cholinergicGO:0072719.8BCHE, ACHE
5methionine biosynthetic processGO:0090869.6MTRR, MTHFR, MTHFD1
6methylationGO:0322599.5MTR, MTRR
7sulfur amino acid metabolic processGO:0000969.5MTR, MTRR
8folic acid metabolic processGO:0466559.4MTRR, MTHFR, MTHFD1, FOLR1
9cobalamin metabolic processGO:0092359.2MTR, MTRR
10water-soluble vitamin metabolic processGO:0067679.1MTHFD1, MTHFR, MTRR, MTR
11vitamin metabolic processGO:0067669.0MTR, MTRR, MTHFR, MTHFD1
12small molecule metabolic processGO:0442818.4ACHE, MTR, MTRR, MTHFR, MTHFD1, STS

Molecular functions related to Anencephaly according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1acetylcholinesterase activityGO:0039909.9BCHE, ACHE
2cholinesterase activityGO:0041049.8BCHE, ACHE
3NADP bindingGO:0506619.8MTRR, MTHFR
4beta-amyloid bindingGO:0015409.6BCHE, ACHE

Products for genes affiliated with Anencephaly

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Anencephaly

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet