MCID: ANN002
MIFTS: 59

Anencephaly malady

Rare diseases, Neuronal diseases categories
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Summaries for Anencephaly

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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 based summary: Anencephaly, also known as aprosencephaly, is related to spina bifida and omphalocele. 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, bone and skin, 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.

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

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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Anencephaly, Aliases & Descriptions:

Name: Anencephaly 30 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


Classifications:

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


External Ids:

ICD1025 Q00.0

Related Diseases for Anencephaly

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

(show top 50)    (show all 135)
idRelated DiseaseScoreTop Affiliating Genes
1spina bifida30.9AFP, FOLR1, MTHFD1, MTHFR, MTRR, MTR
2omphalocele30.9ACHE, AFP
3placental abruption30.7AFP, MTHFR
4gastroschisis30.5ACHE, AFP
5edwards syndrome30.5AFP, CGA
6cleft lip30.3MTR, MTRR, MTHFR
7teratoma30.0CGB5, CGA, AFP
8pre-eclampsia29.5AFP, MTHFR, ACHE, BCHE, CGA, CGB5
9neural tube defects29.1AFP, MTHFD1, MTHFR, MTRR, MTR, ACHE
10down syndrome28.7AFP, STS, MTHFR, MTRR, MTR, ACHE
11oligohydramnios10.5AFP
12x-linked ichthyosis10.5STS
13portal vein thrombosis10.4AFP, MTHFR
14male germ cell tumor, somatic10.4AFP, CGA
15exencephaly10.4
16germ cell cancer10.4CGA, AFP
17congenital nephrotic syndrome finnish type10.4AFP, ACHE
18hellp syndrome10.4MTHFR, BCHE
19megaloblastic anemia10.4MTR
20iniencephaly10.4
21homocysteinemia10.3MTHFR, MTR
22lewy body dementia10.3ACHE, BCHE
23isolated anencephaly/exencephaly10.3
24homocysteinemia due to mthfr deficiency10.3MTHFR, MTR
25vascular dementia10.3MTHFR, ACHE, BCHE
26encephalocele10.3
27methylmalonic acidemia10.3MTR, MTHFR
28vitamin b12 deficiency10.3MTHFR, MTR
29aprosencephaly cerebellar dysgenesis10.3
30craniorachischisis10.3
31folic acid deficiency anemia10.2FOLR1, MTHFR, MTR
32polydactyly10.2
33anencephaly and spina bifida x-linked10.2
34hirschsprung's disease10.2ACHE, BCHE
35cerebrovascular disease10.2ACHE, MTR, MTHFR
36extragonadal germ cell tumor10.2AFP, CGB5
37leydig cell tumor10.2CGA, CGB5
38endodermal sinus tumor10.2AFP, CGB5
39neural tube defects, folate-sensitive10.2MTRR, MTR
40placental site trophoblastic tumor10.2CGA, CGB5
41memory impairment10.2ACHE, BCHE
42neuronitis10.2
43microcephaly10.2
44amniotic band syndrome10.2
45encephalocele anencephaly10.2
46myelomeningocele10.2
47sirenomelia10.2
48trophoblastic neoplasm10.2CGA, CGB5
49disorders of intracellular cobalamin metabolism10.2MTRR, MTR
50ovarian cyst10.1CGA, CGB5

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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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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MalaCards organs/tissues related to Anencephaly:

32
Brain, Bone, Skin, Spinal cord, Lung, Testes, Pituitary, Heart, Thyroid, Thymus, Cortex, Adrenal gland, Uterus, Placenta, Prostate, Adrenal cortex, Fetal thyroid

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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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MGI Mouse Phenotypes related to Anencephaly:

36
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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Articles related to Anencephaly:

(show top 50)    (show all 496)
idTitleAuthorsYear
1
Anencephaly and its associated malformations. (25386414)
2014
2
Parental occupational exposure to organic solvents and anencephaly in Mexico. (19737733)
2010
3
Postnatal in-vivo MRI findings in anencephaly. (21445817)
2010
4
Bio-monitoring the elimination of folic acid-preventable spina bifida and anencephaly. (18585451)
2008
5
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
6
Embryology of myelomeningocele and anencephaly. (15209484)
2004
7
Anencephaly: structural characterization of gangliosides in defined brain regions. (11308024)
2001
8
The diurnal rhythm in fetal heart rate in a twin pregnancy with discordant anencephaly: comparison with three normal twin pregnancies. (9131306)
1997
9
Anencephaly, dorsal hypermelia, and duplication of the vertebral column: a rare type of rachipagus conjoined twins. (8864167)
1996
10
Anencephaly with spinal dysraphism, cleft lip and palate and limb reduction defects. (7981865)
1994
11
Discordant anencephaly with a cleft lip and palate in a pergonal-induced triplet pregnancy. (1453300)
1992
12
Morphological evaluation for neuronal maturation in anencephaly and encephalocele in human neonates. A proposal of reclassification of cephalic dysraphism. (2257550)
1990
13
The infant with anencephaly. (2381454)
1990
14
Sonography of anencephaly: pitfalls in early diagnosis. (2506226)
1989
15
Epidemiology of anencephaly in Texas, 1981-1986. (2756489)
1989
16
Prenatal diagnosis of anencephaly: spectrum of sonographic appearances and distinction from the amniotic band syndrome. (3044042)
1988
17
Anencephaly, other congenital malformations, and stillbirths. (3764773)
1986
18
Investigation of a cluster of anencephaly and spina bifida. (6383023)
1984
19
Survival in infants with anencephaly. (6705433)
1984
20
The mode of development of an inherited form of anencephaly in the house mouse. (7242851)
1981
21
Differences between the events preceding spina bifida and anencephaly. (7019447)
1981
22
Concordance rates in twins for anencephaly. (7189785)
1980
23
Anencephaly, twins and HLA-B27. (7431364)
1980
24
Anencephaly: an overview. (6930498)
1980
25
Anencephaly and twinning. (715731)
1978
26
Maternal hyperthermia and anencephaly. (76216)
1978
27
Evaluation of human placental lactogen (HPL) levels in anencephaly. (306506)
1978
28
Anencephaly in calves. (618715)
1978
29
Clomiphene, anencephaly, and spina bifida. (65688)
1977
30
Comparison of alphafetoprotein and beta-trace protein in the antenatal diagnosis of anencephaly and spina bifida. (57018)
1976
31
Amniotic fluid alpha2-macroglobulin and the antenatal diagnosis of spina bifida and anencephaly. (52422)
1975
32
Anencephaly, spina bifida and dizygotic twinning: a review of the data of Stevenson et al. (1091145)
1975
33
Female excess in anencephaly and spina bifida: possible gestational influences. (1091146)
1975
34
Hydrocephaly, microcephaly and anencephaly diagnosed in pregnancy by ultrasonic echography. (1196222)
1975
35
Prostaglandin f-2-alpha for the induction of labor in pregnancies complicated by intra-uterine death, anencephaly and chromosomal anomaly. (4847513)
1974
36
Early diagnosis of anencephaly. (4120657)
1973
37
Anencephaly and ovulation stimulation. (4122609)
1973
38
Anencephaly and water supply--a study of the problem in Glasgow. (4738100)
1973
39
Anencephaly and potatoes in Chile. (4119420)
1973
40
Perinatal infections and epidemiology of anencephaly and spina bifida. (4358489)
1973
41
Birth control, sex-ratio, and anencephaly. (4117426)
1972
42
Is anencephaly a single entity? A brief note on the morphologic heterogeneity of anencephaly. (5173383)
1971
43
Anencephaly and spina bifida in Israel. (4926631)
1971
44
Unrecognised epidemic of anencephaly and spina bifida. (4102210)
1971
45
Neuroschisis and human embryonic maldevelopment. New evidence on anencephaly, spina bifida and diverse mammalian defects. (4985177)
1970
46
Social factors in the incidence of spinal bifida and anencephaly. (4916232)
1970
47
The human hypophysis in anencephaly. I. Ultrastructure of the pars distalis. (5763625)
1969
48
The recurrence risk in spina bifida cystica and anencephaly. (4905060)
1969
49
The human hypophysis in anencephaly. II. Ultrastructure of the pars intermedia. (5822055)
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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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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Pathways related to Anencephaly according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Vitamin B12 Metabolism37
9.8MTRR, MTHFR
2
Show member pathways
Glycine Metabolism37
glycine biosynthesis I37
folate transformations37
9.5MTR, MTHFD1
3
Show member pathways
creatine-phosphate biosynthesis37
glycine degradation (creatine biosynthesis)37
putrescine biosynthesis III37
spermidine biosynthesis I37
tryptophan degradation via kynurenine37
spermine biosynthesis37
urea cycle37
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I37
tyrosine degradation I37
L-carnitine biosynthesis37
methylthiopropionate biosynthesis37
2-oxoglutarate decarboxylation to succinyl-CoA37
S-methyl-5-thioadenosine degradation II37
9.2CGA, MTR, MTRR
4
Show member pathways
flavin biosynthesis IV (mammalian)37
molybdenum cofactor biosynthesis37
coenzyme A biosynthesis37
thiamin salvage III37
alanine biosynthesis III37
thio-molybdenum cofactor biosynthesis37
biotin-carboxyl carrier protein assembly37
8.8MTHFD1, MTHFR, MTRR, MTR
5
Show member pathways
One Carbon Metabolism37
dTMP de novo biosynthesis (mitochondrial)37
tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate37
Trans-sulfuration and one carbon metabolism37
methionine salvage37
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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Compounds related to Anencephaly according to GeneCards/GeneDecks:

(show top 50)    (show all 186)
idCompoundScoreTop Affiliating Genes
1choline ester4410.1ACHE, BCHE
2fasciculin4410.1ACHE, BCHE
3butyrylthiocholine44 1111.0BCHE, ACHE
4vitamin b-complex, plain5010.0MTRR, MTHFR
5butyrylcholine4410.0BCHE, ACHE
6methyl-group4410.0MTHFR, MTR
7benzoylcholine4410.0BCHE, ACHE
85-Methyltetrahydrofolic acid249.9MTHFR, MTR
9bw 284 c 51449.9BCHE, ACHE
10alpha-solanine449.9BCHE, ACHE
1111-ketotestosterone449.8CGB5, CGA
12oestriol449.8CGA, AFP, CGB5
13folic acid50 24 1111.8MTRR, FOLR1, MTHFR
14thiocholine449.8BCHE, ACHE
15clomiphene citrate449.7CGA, AFP, CGB5
165,10-methenyltetrahydrofolate449.7MTHFD1, MTHFR, MTR
1710-formyltetrahydrofolate449.7MTHFR, MTR, MTHFD1
18b vitamins449.7MTR, MTRR, MTHFR
19Tetrahydrofolic acid24 1110.7MTHFD1, MTR, MTHFR
20methylcobalamin44 2410.7MTR, MTHFR, MTRR
21cyanocobalamin50 24 1111.6MTRR, MTHFR, MTR
22hydroxocobalamin44 1110.6MTHFR, MTRR, MTR
23tetrahydrofolate449.6MTR, MTRR, MTHFR
24betaine44 2410.6MTHFR, MTR, MTRR
25pralidoxime44 1110.6BCHE, ACHE
26methylmalonic acid44 2410.6MTR, MTRR, MTHFR
275-methyltetrahydrofolate44 1110.4FOLR1, MTHFR, MTRR, MTR
28vitamin b12449.4AFP, MTHFR, MTRR, MTR
29carbon449.3AFP, MTHFR, CGA, BCHE, MTR
30cystathionine449.3MTHFR, MTHFD1, MTR, MTRR
31cobalamin44 2410.3MTR, MTRR, MTHFR, MTHFD1
32cetrorelix44 28 1111.2CGB5, CGA, GRP
33choline44 24 1111.1ACHE, BCHE, GRP, MTHFR
34irinotecan44 50 1111.0MTHFR, GRP, BCHE, AFP, ACHE
35homocysteine44 2410.0MTR, MTRR, MTHFR, FOLR1, MTHFD1
36methionine448.9MTR, MTHFR, MTHFD1, FOLR1, MTRR
37cyclophosphamide44 50 1110.8CGB5, BCHE, MTR, MTHFR, AFP, CGA
38aspirin44 50 28 2411.7MTHFR, BCHE, GRP, CGB5, CGA
39alanine448.4MTHFR, AFP, MTRR, BCHE, CGA, GRP
40testosterone44 61 24 1111.4STS, CGB5, CGA, MTHFR, AFP, GRP
41aspartate448.3CGA, BCHE, MTR, MTRR, MTHFR, AFP
42doxorubicin44 50 1110.2CGB5, AFP, FOLR1, MTR, GRP, CGA
43thymidylate448.2MTHFR, FOLR1, MTHFD1, MTRR, MTR, GRP
44creatinine448.0AFP, CGA, MTHFR, CGB5, MTR, GRP
45folate448.0CGB5, CGA, MTR, MTRR, MTHFD1, FOLR1
46methotrexate50 44 1110.0MTHFR, CGB5, MTRR, MTR, CGA, MTHFD1
47estrogen447.9GRP, CGA, CGB5, MTR, MTHFR, STS
48cisplatin44 50 61 1110.8MTHFR, MTR, AFP, FOLR1, BCHE, GRP
49glutamate447.7CGA, BCHE, AFP, MTHFR, MTR, ACHE
50serine445.7MARCKSL1, GRP, CGA, BCHE, ACHE, MTRR

GO Terms for genes affiliated with Anencephaly

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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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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
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51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet