MCID: ANN002
MIFTS: 52

Anencephaly malady

Categories: Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Anencephaly

About this section

Aliases & Descriptions for Anencephaly:

Name: Anencephaly 52 35 11 48 25 49 27 50
Aprosencephaly 25 50
Absence of a Large Part of the Brain and the Skull 48
Isolated Anencephaly/exencephaly 54
 
Congenital Absence of Brain 25
Anencephalia 25
Anencephalus 25

Characteristics:

Orphanet epidemiological data:

54
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

Classifications:



External Ids:

OMIM52 206500
Disease Ontology11 DOID:0060668
ICD1030 00.0, Q00.0
Orphanet54 ORPHA1048
ICD10 via Orphanet31 Q00.0

Summaries for Anencephaly

About this section
NIH Rare Diseases:48 Anencephaly is a type of neural tube defect characterized by abnormal development of the brain and the bones of the skull. The neural tube is a narrow channel that normally folds and closes between the 3rd and 4th weeks of pregnancy, forming the brain and spinal cord of the embryo. Anencephaly occurs when the 'cephalic' or head end of the neural tube fails to close, causing 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). Affected babies are usually blind, deaf, unconscious, and unable to feel pain. Almost all babies with anencephaly die before birth, although some may survive a few hours or a few days after birth. Anencephaly is likely caused by an interaction between genetic and environmental factors, many of which remain unknown. Last updated: 8/31/2015

MalaCards based summary: Anencephaly, also known as aprosencephaly, is related to neural tube defects, folate-sensitive and neural tube defects, and has symptoms including anencephaly, primary adrenal insufficiency and anencephaly. An important gene associated with Anencephaly is MTHFR (Methylenetetrahydrofolate Reductase), and among its related pathways are Folate Metabolism and Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE. Affiliated tissues include brain, bone and skin, and related mouse phenotypes are Increased shRNA abundance and limbs/digits/tail.

Disease Ontology:11 A congenital nervous system abnormality characterized by failure of the anterior neuropore to close resulting in partial or complete absence of the cranial vault accompanied by absence of overlying tissues, including the brain and cerebral hemispheres, skull and scalp.

NINDS:49 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.

Genetics Home Reference:25 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.

OMIM:52 Anencephaly is considered an extreme form of neural tube defect (182940), which has been associated with variation in... (206500) more...

Wikipedia:71 Anencephaly is the absence of a major portion of the brain, skull, and scalp that occurs during... more...

Related Diseases for Anencephaly

About this section

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

(show top 50)    (show all 95)
idRelated DiseaseScoreTop Affiliating Genes
1neural tube defects, folate-sensitive31.1MTHFR, MTR, MTRR
2neural tube defects29.7AFP, MTHFR, MTR, MTRR, PRICKLE1, T
3open iniencephaly29.6MTHFR, T, VANGL2
4closed iniencephaly29.6MTHFR, T, VANGL2
5anencephaly and spina bifida x-linked11.9
6encephalocele anencephaly11.8
7exencephaly11.1
8craniorachischisis11.1
9hydrolethalus syndrome 210.9
10vangl1-related neural tube defect10.8
11cerebellar agenesis10.8
12iniencephaly10.5
13nutritional deficiency disease10.3AFP, MTHFR
14homocystinuria due to mthfr deficiency10.3MTHFR, MTR
15serine deficiency10.3MTHFR, MTR
16dermatitis10.3AFP, MTHFR
17lip carcinoma in situ10.2AFP, MTHFR
18cervix erosion10.2AFP, MTHFR
19methylmalonic aciduria and homocystinuria type cblg10.2MTHFR, MTR
20primary pigmented nodular adrenocortical disease10.2MTHFR, SIX3
21hepatitis d10.2MTHFR, SIX3
22hypertrichosis of eyelid10.2AFP, SIX3
23choroid necrotic melanoma10.1AFP, MTHFR
24congenital intrinsic factor deficiency10.1MTR, MTRR
25x-linked disease10.1MTR, MTRR
26schizencephaly10.1MTHFR, SIX3
27dysferlinopathy10.0MTR, MTRR
28factor v leiden thrombophilia10.0MTR, MTRR
29cervical spina bifida cystica10.0MTHFR, T, VANGL2
30thoracolumbosacral spina bifida cystica10.0MTHFR, T, VANGL2
31total spina bifida cystica10.0MTHFR, T, VANGL2
32upper thoracic spina bifida aperta10.0MTHFR, T, VANGL2
33occipital encephalocele10.0MTHFR, T, VANGL2
34cranial meningocele10.0MTHFR, T, VANGL2
35myelocystocele10.0MTHFR, T, VANGL2
36cervicothoracic spina bifida aperta10.0MTHFR, T, VANGL2
37spina bifida aperta9.9MTHFR, T, VANGL2
38mycophenolate mofetil embryopathy9.9MTHFR, T, VANGL2
39congenital hypomyelination neuropathy9.9MTHFR, MTR
40acalvaria9.9
41medeira-dennis-donnai syndrome9.9
42omphalocele9.9
43polydactyly9.9
44amniotic band syndrome9.9
45encephalocele9.9
46diprosopus9.9
47microcephaly9.8
48neuronitis9.8
49cleft lip9.8
50sirenomelia9.8

Graphical network of the top 20 diseases related to Anencephaly:



Diseases related to anencephaly

Symptoms & Phenotypes for Anencephaly

About this section

Symptoms by clinical synopsis from OMIM:

206500

Clinical features from OMIM:

206500

Human phenotypes related to Anencephaly:

 64 54
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 anencephaly64 54 hallmark (90%) Very frequent (99-80%) HP:0002323
2 primary adrenal insufficiency64 54 hallmark (90%) Very frequent (99-80%) HP:0008207
3 spina bifida64 HP:0002414

GenomeRNAi Phenotypes related to Anencephaly according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00327-A10.0AFP, MTHFR, MTR

MGI Mouse Phenotypes related to Anencephaly according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.4MTHFR, PRICKLE1, T, VANGL2
2MP:00053829.3PRICKLE1, SIX3, T, VANGL2
3MP:00053908.2MTHFR, PRICKLE1, SIX3, T, VANGL2
4MP:00107688.0AFP, MTHFR, MTR, PRICKLE1, SIX3, T

Drugs & Therapeutics for Anencephaly

About this section

Drugs for Anencephaly (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Folic Acidapproved, nutraceutical, vet_approved427959-30-36037
Synonyms:
(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid
01769_FLUKA
2d0k
33609-88-0
36653-55-1 (mono-potassium salt)
59-30-3
6484-89-5 (mono-hydrochloride salt)
AC-11682
AC1L1LNX
AI3-26387
AKOS000503224
ARONIS014410
Acfol (Spain)
Acide folique
Acide folique [INN-French]
Acido folico
Acido folico [INN-Spanish]
Acidum folicum
Acidum folicum [INN-Latin]
Acifolic
Antianemia factor
Apo-Folic
BIDD:ER0563
BIDD:GT0641
BIF0608
BPBio1_000654
BSPBio_000594
BSPBio_002338
C00504
C20H20N6O6
CAS-59-30-3
CCRIS 666
CHEBI:27470
CHEMBL1622
CID6037
CPD000471860
Cytofol
D00070
DB00158
DivK1c_000494
Dosfolat B activ
EINECS 200-419-0
F0043
F7876_SIAL
F7876_SIGMA
F8758_SIGMA
F8798_SIAL
F8890_SIGMA
FOL
Facid
Factor U
Folacid
Folacin
Folaemin
Folaemin [Netherlands]
Folan
Folasic (Australia)
Folate
Folbal
Folcidin
Folcidin (VAN)
Folcysteine
Foldine
Foldine [France]
Folettes
Foliamin
Folic
Folic acid
Folic acid (JP15/USP/INN)
Folic acid (TN)
Folic acid [BAN:INN:JAN]
Folic acid [INN:BAN:JAN]
Folic acid dihydrate
Folicet
Folicet (TN)
Folico
Folico (Italy)
Folina
Folina (Italy)
Folipac
Folsaeure
 
Folsan
Folsaure
Folsav
Folvite
Folvron
Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L
HMS1921D20
HMS2092N17
HMS501I16
HSDB 2002
IDI1_000494
InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s
Incafolic
KBio1_000494
KBio2_001861
KBio2_004429
KBio2_006997
KBio3_001558
KBioGR_002222
KBioSS_001861
Kyselina listova
Kyselina listova [Czech]
LS-2157
Liver Lactobacillus casei factor
MLS001304016
MLS001335861
Millafol
Mission prenatal
Mittafol
MolPort-004-285-551
N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid
N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-(4-{[(2-Amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-Pteroyl-L-glutamic acid
N-[(4-{[(2-Amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[4-[[(2-Amino-3,4-dihydro-4-oxo-6-pteridinyl)methyl]amino]benzoyl]-L-glutamic acid
NCGC00016265-01
NCGC00142391-01
NINDS_000494
NSC 3073
Nifolin
Nifolin [Denmark]
Novofolacid
Novofolacid [Canada]
PGA
PGA (VAN)
Prestwick3_000627
Prestwick_230
PteGlu
Pteroyl-L-glutamate
Pteroyl-L-glutamic acid
Pteroyl-L-monoglutamate
Pteroyl-L-monoglutamic acid
Pteroylglutamate
Pteroylglutamic acid
Pteroylmonoglutamate
Pteroylmonoglutamic acid
SAM002264616
SDCCGMLS-0066738.P001
SMP2_000137
SMR000471860
SPBio_001357
SPECTRUM1502020
Serum Folate Level
Spectrum2_001459
Spectrum3_000749
Spectrum4_001751
Spectrum5_000602
Spectrum_001381
UNII-935E97BOY8
Usaf cb-13
Vitamin B11
Vitamin B9
Vitamin Bc
Vitamin Be
Vitamin M
bmse000299
folic acid
nchembio.108-comp10
2Vitamin B Complex4229
3Vitamins5095
4Trace Elements5802
5Micronutrients5802
6Hematinics1630
7Folinic AcidNutraceutical3150
8Vitamin B9Nutraceutical4279
9FolateNutraceutical4279

Interventional clinical trials:

idNameStatusNCT IDPhase
1Study of Genetic Risk Factors for Spina Bifida and AnencephalyUnknown statusNCT00031122
2Genetics of Neural Tube DefectsUnknown statusNCT01253746
3Dosage Effects of Folic Acid on Blood Folates of Honduran WomenCompletedNCT00207532
4Blood Folate and Homocysteine Levels Following Administration of Folic Acid According to Different Daily Dosing Schedules:a Simulation of Food FortificationCompletedNCT00207558
5Genetics of Spina Bifida and AnencephalyRecruitingNCT00636233
6Incidence of Pregnancies and Births With Spina Bifida in Denmark in 2008-2014RecruitingNCT02685813

Search NIH Clinical Center for Anencephaly

Genetic Tests for Anencephaly

About this section

Genetic tests related to Anencephaly:

id Genetic test Affiliating Genes
1 Anencephaly27

Anatomical Context for Anencephaly

About this section

MalaCards organs/tissues related to Anencephaly:

36
Brain, Bone, Skin, Spinal cord, Lung, Testes, Pituitary

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

Publications for Anencephaly

About this section

Articles related to Anencephaly:

(show top 50)    (show all 517)
idTitleAuthorsYear
1
A homozygous mutation in TRIM36 causes autosomal recessive anencephaly in an Indian family. (28087737)
2017
2
Check the Head: Emergency Ultrasound Diagnosis of Fetal Anencephaly. (27429697)
2016
3
Prolonged unassisted survival in an infant with anencephaly. (27799226)
2016
4
Anencephaly: An Ongoing Investigation in Washington State. (26914056)
2016
5
Making the call: Reporting a cluster of cases of anencephaly. (27333230)
2016
6
Elective ventilation to facilitate organ donation in infants with anencephaly: perinatal professionals' views and an ethical analysis. (26676258)
2016
7
Will the Eastern Mediterranean Region be the first to prevent all of folic acid-preventable spina bifida and anencephaly? (26739968)
2016
8
A 2015 global update on folic acid-preventable spina bifida and anencephaly. (27418029)
2016
9
EP01.10: Amniotic band syndrome mimicking isolated anencephaly. (27646670)
2016
10
Neonatal organ donors: thinking beyond anencephaly and involving parents and the public. (26709614)
2016
11
Primary prevention of neural tube defects in Brazil: insights into anencephaly. (26280994)
2015
12
Characteristics of fetuses evaluated due to suspected anencephaly: a population-based cohort study in southern Brazil. (25789781)
2015
13
Preventable spina bifida and anencephaly in Europe. (26178749)
2015
14
Concomitant omphalocele, anencephaly and arthrogryposis associated with trisomy 18. (26043511)
2015
15
Timing of detection of anencephaly in The Netherlands. (25613559)
2015
16
The birth of a monstrous child throughout history: the example of anencephaly between the Egyptian New Empire and the 21st century. (25702380)
2014
17
The effect of flurbiprofen on the development of anencephaly in early stage chicken embryos. (25365663)
2014
18
MicroRNAs function primarily in the pathogenesis of human anencephaly via the mitogen-activated protein kinase signaling pathway. (24634123)
2014
19
Dichorionic twin pregnancy discordant for anencephaly: two cases with different management. (24779254)
2014
20
Oropharyngeal teratoma, oral duplication, cervical diplomyelia and anencephaly in a 22-week fetus: A review of the craniofacial teratoma syndrome. (25360518)
2014
21
Anencephaly and its associated malformations. (25386414)
2014
22
Association of iniencephaly, anencephaly, and fusion of cervical vertebral bodies: a new autosomal recessive syndrome? (23011585)
2013
23
Discordant anencephaly and Cantrell syndrome in monozygotic twins conceived by ICSI and IVF-ET. (23915871)
2013
24
Amniotic fluid and serum biomarkers from women with neural tube defect-affected pregnancies: a case study for myelomeningocele and anencephaly: clinical article. (23971635)
2013
25
Misoprostol for labor induction in the second trimester in a woman with previous three cesarean deliveries and an intrauterine death of an anencephaly. (23724534)
2013
26
Seriously ill woman expecting a baby with anencephaly has waited a month to learn whether she can have an abortion. (23633226)
2013
27
Recurrent anencephaly: a case report and examination of the VANGL1 and FOXN1 genes. (23301910)
2013
28
2012 Update on global prevention of folic acid-preventable spina bifida and anencephaly. (24000219)
2013
29
Acrania-anencephaly associated with hypospadias. Prenatal ultrasound and MRI diagnosis and molecular folate metabolism pathway analysis. (22443204)
2012
30
Pregnancy termination following prenatal diagnosis of anencephaly or spina bifida: a systematic review of the literature. (23097374)
2012
31
Anencephaly and gastroschisis in the same foetus: a rarity. (23520683)
2012
32
Death of baby with anencephaly after mother was refused an abortion sparks controversy in India. (23118330)
2012
33
Anencephaly does not cause structural alterations in the fetal penis. (22239726)
2012
34
Effect on risk of anencephaly of gene-nutrient interactions between methylenetetrahydrofolate reductase C677T polymorphism and maternal folate, vitamin B12 and homocysteine profile. (22230335)
2012
35
Anencephaly: do the pregnancy and maternal characteristics impact the pregnancy outcome? (22462001)
2012
36
Prenatal diagnosis of a fetus with anencephaly and thumb agenesis. (22348786)
2012
37
Hugging sisters": thoracoomphalopagus with anencephaly confirmed by three-dimensional ultrasonography at 9 weeks of gestation. (21547928)
2011
38
Monoamniotic twins with one fetal anencephaly and cord entanglement diagnosed with three dimensional ultrasound at 14 weeks of gestation. (22022209)
2011
39
Do assisted conception twins have an increased risk for anencephaly? (21984575)
2011
40
Partial monosomy 13q (13q21.32--->qter) and partial trisomy 8p (8p1--->pter) presenting with anencephaly and increased nuchal translucency: array comparative genomic hybridization characterization. (21791309)
2011
41
Parental occupational exposure to organic solvents and anencephaly in Mexico. (19737733)
2010
42
Postnatal in-vivo MRI findings in anencephaly. (21445817)
2010
43
Anencephaly in a german shepherd dog. (20466859)
2010
44
A case of otocephaly with anencephaly and meningomyelocele. (20964124)
2010
45
Prevalence and management of anencephaly at Saidu Teaching Hospital, Swat. (22455263)
2010
46
Anencephaly-exencephaly sequence and congenital diaphragmatic hernia in a fetus with 46, XX karyotype: Early prenatal diagnosis, necropsy, and maternal folate pathway genetic analysis. (20334481)
2010
47
The natural history of anencephaly. (20198650)
2010
48
Complete ectopia cordis with anencephaly: a case report. (20232401)
2010
49
Dicephalus parapagus conjoined twins discordant for anencephaly: a case report. (20181096)
2010
50
MicroRNAs: potential regulators involved in human anencephaly. (19962448)
2010

Variations for Anencephaly

About this section

Expression for genes affiliated with Anencephaly

About this section
Search GEO for disease gene expression data for Anencephaly.

Pathways for genes affiliated with Anencephaly

About this section

Pathways related to Anencephaly according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.3MTHFR, MTRR
2
Show member pathways
9.1MTR, MTRR
39.1MTR, MTRR
4
Show member pathways
8.8MTHFR, MTR, MTRR
5
Show member pathways
8.8MTHFR, MTR, MTRR

GO Terms for genes affiliated with Anencephaly

About this section

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1post-anal tail morphogenesisGO:003634210.0T, VANGL2
2protein import into nucleusGO:000660610.0PRICKLE1, SIX3
3folic acid metabolic processGO:004665510.0MTHFR, MTRR
4methionine metabolic processGO:000655510.0MTHFR, MTRR
5cobalamin metabolic processGO:00092359.8MTR, MTRR
6methionine biosynthetic processGO:00090869.8MTR, MTRR
7methylationGO:00322599.7MTR, MTRR
8SMAD protein signal transductionGO:00603959.7AFP, T
9neural tube closureGO:00018439.5PRICKLE1, T, VANGL2
10sulfur amino acid metabolic processGO:00000969.1MTR, MTRR

Molecular functions related to Anencephaly according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II distal enhancer sequence-specific DNA bindingGO:00009809.9SIX3, T
2flavin adenine dinucleotide bindingGO:00506609.9MTHFR, MTRR
3NADP bindingGO:00506619.9MTHFR, MTRR
4transcription factor activity, RNA polymerase II distal enhancer sequence-specific bindingGO:00037059.4SIX3, T

Sources for Anencephaly

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet