MCID: ANN002
MIFTS: 57

Anencephaly malady

Rare diseases, Neuronal diseases, Fetal diseases categories

Aliases & Classifications for Anencephaly

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Sources:
30LifeMap Discovery®, 41NIH Rare Diseases, 21Genetics Home Reference, 42NINDS, 43Novoseek, 47Orphanet, 26ICD10 via Orphanet, 25ICD10
See all sources

Anencephaly, Aliases & Descriptions:

Name: Anencephaly 30 41 21 42 43
Isolated Anencephaly/exencephaly 41 47
Aprosencephaly 21 43
Absence of a Large Part of the Brain and the Skull 41
 
Congenital Absence of Brain 21
Anencephalus 21
Anencephalia 21


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
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:

Orphanet47 1048
ICD10 via Orphanet26 Q00.0
ICD1025 Q00.0

Summaries for Anencephaly

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NINDS: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. 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 omphalocele and edwards syndrome, 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:41 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.

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

Related Diseases for Anencephaly

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

(show top 50)    (show all 135)
idRelated DiseaseScoreTop Affiliating Genes
1omphalocele30.9ACHE, AFP
2edwards syndrome30.7AFP, CGA
3placental abruption30.7AFP, MTHFR
4gastroschisis30.5ACHE, AFP
5cleft lip30.2MTR, MTRR, MTHFR
6teratoma30.1AFP, CGA, CGB5
7neural tube defects, folate-sensitive30.0MTRR, MTR
8neural tube defects28.9CGB5, CGA, BCHE, MARCKSL1, ACHE, MTR
9down syndrome28.8AFP, STS, MTHFR, MTRR, MTR, ACHE
10oligohydramnios10.5AFP
11ichthyosis, x-linked10.5STS
12testicular teratoma10.4AFP, CGA
13portal vein thrombosis10.4AFP, MTHFR
14ovarian mixed germ cell neoplasm10.4AFP, CGA
15exencephaly10.4
16germ cell cancer10.4AFP, CGA
17congenital nephrotic syndrome finnish type10.4AFP, ACHE
18iniencephaly10.4
19hellp syndrome10.4MTHFR, BCHE
20aprosencephaly cerebellar dysgenesis10.4
21dementia, lewy body10.3ACHE, BCHE
22vascular dementia10.3MTHFR, ACHE, BCHE
23craniorachischisis10.3
24encephalocele10.3
25extragonadal germ cell tumor10.3AFP, CGB5
26anencephaly and spina bifida x-linked10.3
27leydig cell tumor10.3CGA, CGB5
28endodermal sinus tumor10.3AFP, CGB5
29placental site trophoblastic tumor10.3CGA, CGB5
30trophoblastic neoplasm10.2CGA, CGB5
31megaloblastic anemia10.2MTR
32ovarian cyst10.2CGA, CGB5
33gestational trophoblastic tumor10.2CGA, CGB5
34ovarian hyperstimulation syndrome10.2CGB5, CGA
35polydactyly10.2
36encephalocele anencephaly10.2
37ectopic pregnancy10.2CGA, CGB5
38homocysteinemia10.2MTHFR, MTR
39homocysteinemia due to mthfr deficiency10.2MTHFR, MTR
40gynecomastia10.2CGB5, CGA
41germinoma10.2AFP, CGA, CGB5
42breast cyst10.2GRP, CGB5
43dysgerminoma10.2AFP, CGA, CGB5
44oligospermia10.2CGA, CGB5
45pregnancy loss, recurrent 110.2MTHFR, CGA, CGB5
46hyperprolactinemia10.2CGA, CGB5
47testicular cancer10.2CGB5, CGA, AFP
48meckel syndrome 110.2
49neuronitis10.2
50microcephaly10.2

Graphical network of the top 20 diseases related to Anencephaly:



Diseases related to anencephaly

Symptoms for Anencephaly

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Symptoms:

 47
  • 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:

31
Brain, Bone, Skin, Spinal cord, Lung, Testes, Pituitary, Thyroid, Thymus, Cortex, Heart, Adrenal gland, Uterus, Placenta, Prostate, Adrenal cortex, Fetal thyroid

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

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:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.3ACHE, FOXN1, FOLR1, VANGL2
2MP:00053918.2VANGL2, FOLR1, FOXN1, MTHFR, ACHE, MARCKSL1
3MP:00053807.9VANGL2, FOLR1, FOXN1, MTHFD1, MARCKSL1, KIF7
4MP:00053787.8VANGL2, FOLR1, FOXN1, MTHFD1, MTHFR, MTRR
5MP:00036317.7VANGL2, FOLR1, MTHFD1, MTHFR, ACHE, MARCKSL1
6MP:00053897.7AFP, VANGL2, FOXN1, MTHFR, ACHE, MARCKSL1
7MP:00107686.8AFP, VANGL2, FOLR1, FOXN1, MTHFD1, MTHFR
8MP:00053766.7CGA, AFP, VANGL2, FOLR1, FOXN1, MTHFD1

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 Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Vitamin B12 Metabolism36
9.8MTRR, MTHFR
2
Show member pathways
Glycine Metabolism36
glycine biosynthesis I36
folate transformations36
9.5MTHFD1, MTR
3
Show member pathways
creatine-phosphate biosynthesis36
glycine degradation (creatine biosynthesis)36
putrescine biosynthesis III36
spermidine biosynthesis I36
tryptophan degradation via kynurenine36
spermine biosynthesis36
urea cycle36
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I36
tyrosine degradation I36
L-carnitine biosynthesis36
methylthiopropionate biosynthesis36
2-oxoglutarate decarboxylation to succinyl-CoA36
S-methyl-5-thioadenosine degradation II36
9.2CGA, MTR, MTRR
4
Show member pathways
flavin biosynthesis IV (mammalian)36
molybdenum cofactor biosynthesis36
coenzyme A biosynthesis36
thiamin salvage III36
alanine biosynthesis III36
thio-molybdenum cofactor biosynthesis36
biotin-carboxyl carrier protein assembly36
8.9MTR, MTRR, MTHFR, MTHFD1
5
Show member pathways
One Carbon Metabolism36
dTMP de novo biosynthesis (mitochondrial)36
tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate36
Trans-sulfuration and one carbon metabolism36
methionine salvage36
Methionine metabolism58
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 Suite gene sharing:

(show top 50)    (show all 185)
idCompoundScoreTop Affiliating Genes
1rivastigmine tartrate5910.2ACHE, BCHE
2isomalathion4310.2BCHE, ACHE
3acephate59 4311.2BCHE, ACHE
4donepezil hydrochloride5910.1ACHE, BCHE
5o-nitroacetanilide4310.1BCHE, ACHE
6acetylthiocholine4310.1ACHE, BCHE
7vitamin b-complex, plain4910.0MTRR, MTHFR
8benzoylcholine4310.0ACHE, BCHE
9butyrylcholine4310.0ACHE, BCHE
105-Methyltetrahydrofolic acid2410.0MTHFR, MTR
11butyrylthiocholine43 1211.0ACHE, BCHE
12echothiophate43 1210.9BCHE, ACHE
13thiocholine439.9ACHE, BCHE
14folic acid49 24 1211.9MTHFR, MTRR, FOLR1
15oestriol439.8AFP, CGA, CGB5
16galanthamine hydrobromide599.8ACHE, BCHE
175,10-methenyltetrahydrofolate439.7MTHFD1, MTR, MTHFR
1810-formyltetrahydrofolate439.7MTHFD1, MTHFR, MTR
19clomiphene citrate439.7AFP, CGB5, CGA
20methylcobalamin43 2410.7MTHFR, MTRR, MTR
21Tetrahydrofolic acid24 1210.7MTHFD1, MTHFR, MTR
22b vitamins439.7MTR, MTRR, MTHFR
23cyanocobalamin49 24 1211.7MTHFR, MTRR, MTR
24hydroxocobalamin43 1210.7MTHFR, MTRR, MTR
25tetrahydrofolate439.6MTHFR, MTRR, MTR
26betaine43 2410.6MTHFR, MTRR, MTR
27methylmalonic acid43 2410.6MTR, MTRR, MTHFR
28obidoxime439.6ACHE, BCHE
295-methyltetrahydrofolate43 1210.5MTR, FOLR1, MTHFR, MTRR
30vitamin b12439.4AFP, MTHFR, MTRR, MTR
31carbon439.3BCHE, MTR, CGA, MTHFR, AFP
32cystathionine439.3MTRR, MTHFR, MTR, MTHFD1
33cobalamin43 2410.3MTHFR, MTHFD1, MTR, MTRR
34cetrorelix43 28 1211.2GRP, CGB5, CGA
35irinotecan43 49 1211.0ACHE, AFP, GRP, MTHFR, BCHE
36homocysteine43 2410.0MTRR, MTHFR, MTR, FOLR1, MTHFD1
37methionine439.0MTR, MTHFR, FOLR1, MTRR, MTHFD1
38cyclophosphamide43 49 1210.8AFP, MTHFR, CGA, MTR, BCHE, CGB5
39aspirin43 49 28 2411.7CGB5, GRP, MTHFR, CGA, BCHE
40testosterone43 59 24 1211.4CGB5, GRP, MTHFR, STS, AFP, CGA
41aspartate438.3CGA, BCHE, MARCKSL1, MTR, AFP, MTRR
42thymidylate438.2FOLR1, MTHFR, MTR, MTHFD1, MTRR, GRP
43doxorubicin43 49 1210.2AFP, FOLR1, MTR, GRP, CGA, CGB5
44creatinine438.0CGB5, AFP, BCHE, MTR, CGA, MTHFR
45folate438.0AFP, MTHFD1, MTHFR, MTRR, MTR, CGB5
46methotrexate49 43 1210.0CGB5, CGA, MTR, MTRR, MTHFR, MTHFD1
47estrogen437.9CGA, GRP, MTR, CGB5, STS, MTHFR
48cisplatin43 49 59 1210.8GRP, CGA, CGB5, MTHFR, MTR, AFP
49glutamate437.8MTHFR, MTRR, AFP, MTR, ACHE, BCHE
50serine435.7BCHE, AFP, STS, FOLR1, MTHFD1, MTHFR

GO Terms for genes affiliated with Anencephaly

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Cellular components related to Anencephaly according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum lumenGO:00057889.6BCHE, ACHE, STS

Biological processes related to Anencephaly according to GeneCards Suite gene sharing:

(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 Suite gene sharing:

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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet