MCID: ANN002
MIFTS: 65

Anencephaly malady

Rare diseases, Neuronal diseases, Fetal diseases categories

Summaries for Anencephaly

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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 based summary: Anencephaly, also known as isolated anencephaly/exencephaly, is related to neural tube defects and omphalocele, and has symptoms including anencephaly, primary adrenal insufficiency and anencephaly. An important gene associated with Anencephaly is MTHFR (methylenetetrahydrofolate reductase (NAD(P)H)), and among its related pathways are Folate Metabolism and folate polyglutamylation. The compounds rivastigmine tartrate and isomalathion 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: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

Genetics Home Reference:23 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.

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:
32LifeMap Discovery®, 43NIH Rare Diseases, 23Genetics Home Reference, 44NINDS, 45Novoseek, 49Orphanet, 28ICD10 via Orphanet, 27ICD10
See all sources

Anencephaly, Aliases & Descriptions:

Name: Anencephaly 32 43 23 44 45
Isolated Anencephaly/exencephaly 43 49
Aprosencephaly 23 45
Absence of a Large Part of the Brain and the Skull 43
 
Congenital Absence of Brain 23
Anencephalus 23
Anencephalia 23


Classifications:

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


Characteristics (Orphanet epidemiological data):

49
isolated anencephaly/exencephaly:
Inheritance: Multigenic/multifactorial,Not applicable; Prevalence: 1-5/10000 (Europe),1-9/1000000 (Europe),1-5/10000 (United States); Age of onset: Infancy,Neonatal; Age of death: early childhood


External Ids:

Orphanet49 1048
ICD10 via Orphanet28 Q00.0
ICD1027 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 133)
idRelated DiseaseScoreTop Affiliating Genes
1neural tube defects30.8AFP, MTR, FOLR1, MTHFD1, MTRR, MTHFR
2omphalocele30.3AFP, ACHE
3cleft lip30.2MTR, MTRR, MTHFR
4edwards syndrome30.2AFP, CGA
5placental abruption30.2MTHFR, AFP
6gastroschisis30.0AFP, ACHE
7teratoma29.9CGB5, CGA, AFP
8neural tube defects, folate-sensitive29.9MTR, MTRR
9down syndrome29.7AFP, MTRR, ACHE, CGB5, MTHFR, CGA
10exencephaly10.4
11iniencephaly10.4
12craniorachischisis10.3
13encephalocele10.3
14aprosencephaly cerebellar dysgenesis10.3
15polydactyly10.2
16anencephaly and spina bifida x-linked10.2
17meckel syndrome 110.2
18neuronitis10.2
19microcephaly10.2
20amniotic band syndrome10.2
21encephalocele anencephaly10.2
22myelomeningocele10.2
23sirenomelia10.2
24hydrolethalus syndrome 210.1
25acrocallosal syndrome10.1
26hydrolethalus syndrome10.1
27vacterl association10.1
28holoprosencephaly10.1
29hydrocephalus10.1
30meningocele10.1
31cervicitis10.1
32diprosopia10.1
33medeira-dennis-donnai syndrome10.1
34pentalogy of cantrell10.1
35schisis association10.1
36xk aprosencephaly10.1
37distal monosomy 13q10.1
38aminopterin/methotrexate embryofetopathy10.1
39oligohydramnios10.1AFP
40ichthyosis, x-linked10.1STS
41testicular teratoma10.1CGA, AFP
42cerebellar hypoplasia10.1
43rhombencephalosynapsis10.1
44portal vein thrombosis10.1AFP, MTHFR
45germ cell cancer10.0AFP, CGA
46congenital nephrotic syndrome finnish type10.0AFP, ACHE
47hellp syndrome10.0BCHE, MTHFR
48dementia, lewy body10.0ACHE, BCHE
49vascular dementia10.0BCHE, ACHE, MTHFR
50extragonadal germ cell tumor10.0CGB5, AFP

Graphical network of the top 20 diseases related to Anencephaly:



Diseases related to anencephaly

Symptoms for Anencephaly

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Symptoms:

 49
  • cortico-adrenal hypoplasia/insufficiency
  • anencephaly/acrania
  • stillbirth/neonatal death
  • autosomal recessive inheritance

HPO human phenotypes related to Anencephaly:

id Description Frequency HPO Source Accession
1 anencephaly hallmark (90%) HP:0002323
2 primary adrenal insufficiency hallmark (90%) HP:0008207
3 anencephaly HP:0002323
4 spina bifida HP:0002414

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:

33
Brain, Bone, Skin, Spinal cord, Lung, Testes, Pituitary, Thyroid, Thymus, Cortex, Heart, Adrenal gland, Uterus, Placenta, Prostate, 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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MGI Mouse Phenotypes related to Anencephaly:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.3VANGL2, FOLR1, FOXN1, ACHE
2MP:00053918.2FOXN1, MARCKSL1, FOLR1, VANGL2, ACHE, KIF7
3MP:00053807.9MTHFD1, FOXN1, MARCKSL1, FOLR1, KIF7, VANGL2
4MP:00053787.8MTRR, FOXN1, MTHFD1, FOLR1, VANGL2, CGA
5MP:00036317.7MARCKSL1, ACHE, CGA, MTHFR, MTHFD1, FOLR1
6MP:00053897.7CGA, KIF7, BCHE, MARCKSL1, ACHE, MTHFR
7MP:00107686.8MTR, KIF7, BCHE, MARCKSL1, AFP, VANGL2
8MP:00053766.7CGA, AFP, VANGL2, FOLR1, FOXN1, KIF7

Publications for Anencephaly

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Articles related to Anencephaly:

(show top 50)    (show all 500)
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
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
Folic acid-preventable spina bifida and anencephaly. (8437310)
1993
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
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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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 Metabolism38
9.8MTRR, MTHFR
2
Show member pathways
Glycine Metabolism38
glycine biosynthesis I38
folate transformations38
9.5MTHFD1, MTR
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
8.9MTR, MTRR, MTHFR, MTHFD1
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
8.9MTHFD1, MTHFR, MTRR, MTR
6
Show member pathways
8.2CGB5, CGA, GRP, BCHE, ACHE
7
Show member pathways
8.0STS, ACHE, BCHE, GRP, CGA, CGB5
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 185)
idCompoundScoreTop Affiliating Genes
1rivastigmine tartrate6110.2ACHE, BCHE
2isomalathion4510.2BCHE, ACHE
3acephate61 4511.2BCHE, ACHE
4donepezil hydrochloride6110.1ACHE, BCHE
5o-nitroacetanilide4510.1BCHE, ACHE
6acetylthiocholine4510.1ACHE, BCHE
7vitamin b-complex, plain5110.0MTRR, MTHFR
8benzoylcholine4510.0ACHE, BCHE
9butyrylcholine4510.0ACHE, BCHE
105-Methyltetrahydrofolic acid2610.0MTHFR, MTR
11butyrylthiocholine45 1311.0ACHE, BCHE
12echothiophate45 1310.9BCHE, ACHE
13thiocholine459.9ACHE, BCHE
14folic acid51 26 1311.9MTHFR, MTRR, FOLR1
15oestriol459.8AFP, CGA, CGB5
16galanthamine hydrobromide619.8ACHE, BCHE
175,10-methenyltetrahydrofolate459.7MTHFD1, MTR, MTHFR
1810-formyltetrahydrofolate459.7MTHFD1, MTHFR, MTR
19clomiphene citrate459.7AFP, CGB5, CGA
20methylcobalamin45 2610.7MTHFR, MTRR, MTR
21Tetrahydrofolic acid26 1310.7MTHFD1, MTHFR, MTR
22b vitamins459.7MTR, MTRR, MTHFR
23cyanocobalamin51 26 1311.7MTHFR, MTRR, MTR
24hydroxocobalamin45 1310.7MTHFR, MTRR, MTR
25tetrahydrofolate459.6MTHFR, MTRR, MTR
26betaine45 2610.6MTHFR, MTRR, MTR
27methylmalonic acid45 2610.6MTR, MTRR, MTHFR
28obidoxime459.6ACHE, BCHE
295-methyltetrahydrofolate45 1310.5MTR, FOLR1, MTHFR, MTRR
30vitamin b12459.4AFP, MTHFR, MTRR, MTR
31carbon459.3BCHE, MTR, CGA, MTHFR, AFP
32cystathionine459.3MTRR, MTHFR, MTR, MTHFD1
33cobalamin45 2610.3MTHFR, MTHFD1, MTR, MTRR
34cetrorelix45 30 1311.2GRP, CGB5, CGA
35irinotecan45 51 1311.0ACHE, AFP, GRP, MTHFR, BCHE
36homocysteine45 2610.0MTRR, MTHFR, MTR, FOLR1, MTHFD1
37methionine459.0MTR, MTHFR, FOLR1, MTRR, MTHFD1
38cyclophosphamide45 51 1310.8AFP, MTHFR, CGA, MTR, BCHE, CGB5
39aspirin45 51 30 2611.7CGB5, GRP, MTHFR, CGA, BCHE
40testosterone45 61 26 1311.4CGB5, GRP, MTHFR, STS, AFP, CGA
41aspartate458.3CGA, BCHE, MARCKSL1, MTR, AFP, MTRR
42thymidylate458.2FOLR1, MTHFR, MTR, MTHFD1, MTRR, GRP
43doxorubicin45 51 1310.2AFP, FOLR1, MTR, GRP, CGA, CGB5
44creatinine458.0CGB5, AFP, BCHE, MTR, CGA, MTHFR
45folate458.0AFP, MTHFD1, MTHFR, MTRR, MTR, CGB5
46methotrexate51 45 1310.0CGB5, CGA, MTR, MTRR, MTHFR, MTHFD1
47estrogen457.9CGA, GRP, MTR, CGB5, STS, MTHFR
48cisplatin45 51 61 1310.8GRP, CGA, CGB5, MTHFR, MTR, AFP
49glutamate457.8MTHFR, MTRR, AFP, MTR, ACHE, BCHE
50serine455.7BCHE, AFP, STS, FOLR1, MTHFD1, MTHFR

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:00057889.6BCHE, ACHE, STS

Biological processes related to Anencephaly according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1choline metabolic processGO:001969510.1BCHE, ACHE
2response to folic acidGO:005159310.1MTHFR, BCHE
3tetrahydrofolate interconversionGO:003599910.0MTHFD1, MTHFR
4synaptic transmission, cholinergicGO:00072719.8BCHE, ACHE
5methionine biosynthetic processGO:00090869.6MTRR, MTHFR, MTHFD1
6methylationGO:00322599.5MTR, MTRR
7sulfur amino acid metabolic processGO:00000969.5MTR, MTRR
8folic acid metabolic processGO:00466559.4MTRR, MTHFR, MTHFD1, FOLR1
9cobalamin metabolic processGO:00092359.2MTR, MTRR
10water-soluble vitamin metabolic processGO:00067679.1MTHFD1, MTHFR, MTRR, MTR
11vitamin metabolic processGO:00067669.1MTR, MTRR, MTHFR, MTHFD1
12small molecule metabolic processGO:00442818.4ACHE, MTR, MTRR, MTHFR, MTHFD1, STS

Molecular functions related to Anencephaly according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1beta-amyloid bindingGO:00015409.9BCHE, ACHE
2acetylcholinesterase activityGO:00039909.8BCHE, ACHE
3cholinesterase activityGO:00041049.6BCHE, ACHE

Products for genes affiliated with Anencephaly

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Sources for Anencephaly

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet