MCID: ANN002
MIFTS: 58

Anencephaly malady

Rare diseases, Neuronal diseases categories
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Summaries for Anencephaly

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Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 44NINDS, 65Wikipedia, 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 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.

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:65 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:
43NIH Rare Diseases, 21Genetics Home Reference, 44NINDS, 45Novoseek, 25ICD10
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Classifications:

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


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

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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 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:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Anencephaly

Search NIH Clinical Center for Anencephaly

Genetic Tests for Anencephaly

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Anatomical Context for Anencephaly

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31LifeMap Discoveryâ„¢, 33MalaCards
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MalaCards organs/tissues related to Anencephaly:

33
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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37MGI
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MGI Mouse Phenotypes related to Anencephaly:

37
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:
52PubMed
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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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Sources:
2BioGPS, 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:
50PathCards, 38NCBI BioSystems Database, 55Reactome, 30KEGG, 51PharmGKB, 60Thomson 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 Metabolism38
9.8MTRR, MTHFR
2
Show member pathways
Glycine Metabolism38
glycine biosynthesis I38
folate transformations38
9.5MTR, MTHFD1
3
Show member pathways
creatine-phosphate biosynthesis38
glycine degradation (creatine biosynthesis)38
putrescine biosynthesis III38
spermidine biosynthesis I38
tryptophan degradation via kynurenine38
spermine biosynthesis38
urea cycle38
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I38
tyrosine degradation I38
L-carnitine biosynthesis38
methylthiopropionate biosynthesis38
2-oxoglutarate decarboxylation to succinyl-CoA38
S-methyl-5-thioadenosine degradation II38
9.2CGA, MTR, MTRR
4
Show member pathways
flavin biosynthesis IV (mammalian)38
molybdenum cofactor biosynthesis38
coenzyme A biosynthesis38
thiamin salvage III38
alanine biosynthesis III38
thio-molybdenum cofactor biosynthesis38
biotin-carboxyl carrier protein assembly38
8.8MTHFD1, MTHFR, MTRR, MTR
5
Show member pathways
One Carbon Metabolism38
dTMP de novo biosynthesis (mitochondrial)38
tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate38
Trans-sulfuration and one carbon metabolism38
methionine salvage38
Methionine metabolism60
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:
45Novoseek, 11DrugBank, 51PharmGKB, 24HMDB, 29IUPHAR, 61Tocris Bioscience
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Compounds related to Anencephaly according to GeneCards/GeneDecks:

(show top 50)    (show all 186)
idCompoundScoreTop Affiliating Genes
1choline ester4510.1ACHE, BCHE
2fasciculin4510.1ACHE, BCHE
3butyrylthiocholine45 1111.0BCHE, ACHE
4vitamin b-complex, plain5110.0MTRR, MTHFR
5butyrylcholine4510.0BCHE, ACHE
6methyl-group4510.0MTHFR, MTR
7benzoylcholine4510.0BCHE, ACHE
85-Methyltetrahydrofolic acid249.9MTHFR, MTR
9bw 284 c 51459.9BCHE, ACHE
10alpha-solanine459.9BCHE, ACHE
1111-ketotestosterone459.8CGB5, CGA
12oestriol459.8CGA, AFP, CGB5
13folic acid51 24 1111.8MTRR, FOLR1, MTHFR
14thiocholine459.8BCHE, ACHE
15clomiphene citrate459.7CGA, AFP, CGB5
165,10-methenyltetrahydrofolate459.7MTHFD1, MTHFR, MTR
1710-formyltetrahydrofolate459.7MTHFR, MTR, MTHFD1
18b vitamins459.7MTR, MTRR, MTHFR
19Tetrahydrofolic acid24 1110.7MTHFD1, MTR, MTHFR
20methylcobalamin45 2410.7MTR, MTHFR, MTRR
21cyanocobalamin51 24 1111.6MTRR, MTHFR, MTR
22hydroxocobalamin45 1110.6MTHFR, MTRR, MTR
23tetrahydrofolate459.6MTR, MTRR, MTHFR
24betaine45 2410.6MTHFR, MTR, MTRR
25pralidoxime45 1110.6BCHE, ACHE
26methylmalonic acid45 2410.6MTR, MTRR, MTHFR
275-methyltetrahydrofolate45 1110.4FOLR1, MTHFR, MTRR, MTR
28vitamin b12459.4AFP, MTHFR, MTRR, MTR
29carbon459.3AFP, MTHFR, CGA, BCHE, MTR
30cystathionine459.3MTHFR, MTHFD1, MTR, MTRR
31cobalamin45 2410.3MTR, MTRR, MTHFR, MTHFD1
32cetrorelix45 29 1111.2CGB5, CGA, GRP
33choline45 24 1111.1ACHE, BCHE, GRP, MTHFR
34irinotecan45 51 1111.0MTHFR, GRP, BCHE, AFP, ACHE
35homocysteine45 2410.0MTR, MTRR, MTHFR, FOLR1, MTHFD1
36methionine458.9MTR, MTHFR, MTHFD1, FOLR1, MTRR
37cyclophosphamide45 51 1110.8CGB5, BCHE, MTR, MTHFR, AFP, CGA
38aspirin45 51 29 2411.7MTHFR, BCHE, GRP, CGB5, CGA
39alanine458.4MTHFR, AFP, MTRR, BCHE, CGA, GRP
40testosterone45 61 24 1111.4STS, CGB5, CGA, MTHFR, AFP, GRP
41aspartate458.3CGA, BCHE, MTR, MTRR, MTHFR, AFP
42doxorubicin45 51 1110.2CGB5, AFP, FOLR1, MTR, GRP, CGA
43thymidylate458.2MTHFR, FOLR1, MTHFD1, MTRR, MTR, GRP
44creatinine458.0AFP, CGA, MTHFR, CGB5, MTR, GRP
45folate458.0CGB5, CGA, MTR, MTRR, MTHFD1, FOLR1
46methotrexate51 45 1110.0MTHFR, CGB5, MTRR, MTR, CGA, MTHFD1
47estrogen457.9GRP, CGA, CGB5, MTR, MTHFR, STS
48cisplatin45 51 61 1110.8MTHFR, MTR, AFP, FOLR1, BCHE, GRP
49glutamate457.7CGA, BCHE, AFP, MTHFR, MTR, ACHE
50serine455.7MARCKSL1, GRP, CGA, BCHE, ACHE, MTRR

GO Terms for genes affiliated with Anencephaly

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Sources:
16Gene 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
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet