MCID: ANN002
MIFTS: 54

Anencephaly malady

Categories: Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Anencephaly

Aliases & Descriptions for Anencephaly:

Name: Anencephaly 54 38 12 50 25 51 29 52 14
Aprosencephaly 25 52
Absence of a Large Part of the Brain and the Skull 50
Isolated Anencephaly/exencephaly 56
Congenital Absence of Brain 25
Anencephalia 25
Anencephalus 25

Characteristics:

Orphanet epidemiological data:

56
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:

OMIM 54 206500
Disease Ontology 12 DOID:0060668
ICD10 33 00.0 Q00.0
Orphanet 56 ORPHA1048
ICD10 via Orphanet 34 Q00.0

Summaries for Anencephaly

NIH Rare Diseases : 50 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 cleft lip and anencephaly and spina bifida x-linked, and has symptoms including primary adrenal insufficiency and spina bifida. An important gene associated with Anencephaly is MTHFR (Methylenetetrahydrofolate Reductase), and among its related pathways/superpathways are One carbon pool by folate and Folate Metabolism. The drugs leucovorin and Folic Acid have been mentioned in the context of this disorder. Affiliated tissues include Neural Tube, brain and bone, and related phenotypes are growth/size/body region and mortality/aging

NINDS : 51 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 : 54 Anencephaly is considered an extreme form of neural tube defect (182940), which has been associated with variation in... (206500) more...

Disease Ontology : 12 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.

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

Related Diseases for Anencephaly

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

(show top 50) (show all 92)
id Related Disease Score Top Affiliating Genes
1 cleft lip 29.9 MTHFR MTR MTRR
2 anencephaly and spina bifida x-linked 11.9
3 neural tube defects 11.8
4 encephalocele anencephaly 11.8
5 craniorachischisis 11.4
6 iniencephaly 11.3
7 encephalocele 11.2
8 exencephaly 11.1
9 acalvaria 11.1
10 neural tube defects, folate-sensitive 10.9
11 hydrolethalus syndrome 2 10.9
12 vangl1-related neural tube defect 10.8
13 cerebellar agenesis 10.7
14 x-linked disease 10.3 MTR MTRR
15 myh7-related myosin storage myopathy 10.3 MTHFR MTR
16 autosomal dominant disease 10.3 MTR MTRR
17 homocystinuria due to mthfr deficiency 10.2 MTHFR MTR
18 warburg micro syndrome 3 10.2 MTHFR MTR MTRR
19 myosclerosis, congenital 10.2 MTHFR MTR MTRR
20 houlston ironton temple syndrome 10.2 MTHFR MTR MTRR
21 agammaglobulinemia 2 10.2 MTHFR MTR MTRR
22 ezh2-related overgrowth 10.2 MTR MTRR
23 vaginal glandular tumor 10.1 MTHFR MTR MTRR
24 fibrous dysplasia 10.1 AFP MTHFR SIX3
25 chronic ethmoiditis 10.1 MTHFR MTR MTRR
26 deafness, autosomal recessive 45 10.1 MTHFD1 MTHFR MTR MTRR
27 neurofibroma of the heart 10.1 MTHFD1 MTHFR MTR MTRR
28 skeletal muscle regeneration 10.1 MTR MTRR
29 hereditary acrokeratotic poikiloderma, weary type 10.0 MTHFD1 MTHFR T VANGL1 VANGL2
30 myelocystocele 10.0 MTHFD1 MTHFR T VANGL1 VANGL2
31 posterior meningocele 10.0 MTHFD1 MTHFR T VANGL1 VANGL2
32 pericardial and diaphragmatic defect 10.0 MTHFD1 MTHFR T VANGL1 VANGL2
33 hereditary thrombocytopenia with normal platelets 10.0 MTHFD1 MTHFR T VANGL1 VANGL2
34 thoracolumbosacral spina bifida aperta 10.0 MTHFD1 MTHFR T VANGL1 VANGL2
35 lumbosacral spina bifida aperta 10.0 MTHFD1 MTHFR T VANGL1 VANGL2
36 cervical spina bifida aperta 10.0 MTHFD1 MTHFR T VANGL1 VANGL2
37 mycophenolate mofetil embryopathy 10.0 MTHFD1 MTHFR T VANGL1 VANGL2
38 complication in hemodialysis 10.0 MTHFD1 MTHFR T VANGL1 VANGL2
39 intermediate maple syrup urine disease 10.0 MTHFD1 MTHFR T VANGL1 VANGL2
40 46,xx disorder of sex development-anorectal anomalies syndrome 10.0 MTHFD1 MTHFR T VANGL1 VANGL2
41 glycogen storage disease due to liver phosphorylase kinase deficiency 10.0 MTHFD1 MTHFR T VANGL1 VANGL2
42 crohn's disease 10.0 CELSR1 DACT1 SCRIB VANGL2
43 medeira-dennis-donnai syndrome 9.9
44 polydactyly 9.9
45 amniotic band syndrome 9.9
46 omphalocele 9.9
47 diprosopus 9.9
48 cervix small cell carcinoma 9.8 ACHE MTHFR MTR
49 neuronitis 9.8
50 microcephaly 9.8

Graphical network of the top 20 diseases related to Anencephaly:



Diseases related to Anencephaly

Symptoms & Phenotypes for Anencephaly

Symptoms by clinical synopsis from OMIM:

206500

Clinical features from OMIM:

206500

Human phenotypes related to Anencephaly:

56 32
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 primary adrenal insufficiency 56 32 Very frequent (99-80%) HP:0008207
2 anencephaly 56 32 Very frequent (99-80%) HP:0002323
3 spina bifida 32 HP:0002414

MGI Mouse Phenotypes related to Anencephaly:

44 (show all 14)
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.32 SCRIB SIX3 ACHE CELSR1 DACT1 FOLR1
2 mortality/aging MP:0010768 10.31 T VANGL1 VANGL2 ACHE AFP CELSR1
3 embryo MP:0005380 10.27 CELSR1 DACT1 FOLR1 FOXN1 MARCKSL1 MTHFD1
4 cardiovascular system MP:0005385 10.19 VANGL2 DACT1 FOLR1 FOXN1 MTHFD1 PRICKLE1
5 nervous system MP:0003631 10.18 DACT1 FOLR1 MARCKSL1 MTHFD1 MTHFR PRICKLE1
6 craniofacial MP:0005382 10.13 ACHE CELSR1 FOLR1 PRICKLE1 SCRIB SIX3
7 limbs/digits/tail MP:0005371 10.09 CELSR1 DACT1 MTHFD1 MTHFR PRICKLE1 SCRIB
8 hearing/vestibular/ear MP:0005377 10.06 ACHE CELSR1 FOLR1 FOXN1 PRICKLE1 SCRIB
9 digestive/alimentary MP:0005381 10.05 DACT1 FOLR1 PRICKLE1 SCRIB SIX3 T
10 reproductive system MP:0005389 10 ACHE AFP CELSR1 DACT1 FOXN1 MARCKSL1
11 no phenotypic analysis MP:0003012 9.87 ACHE DACT1 MTHFR PRICKLE1 SCRIB T
12 respiratory system MP:0005388 9.7 ACHE CELSR1 PRICKLE1 SCRIB SIX3 VANGL1
13 skeleton MP:0005390 9.61 CELSR1 DACT1 FOXN1 MTHFR PRICKLE1 SIX3
14 vision/eye MP:0005391 9.32 ACHE CELSR1 FOLR1 FOXN1 MARCKSL1 MTHFR

Drugs & Therapeutics for Anencephaly

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

(show all 9)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
leucovorin Approved, Nutraceutical 58-05-9 54575, 6560146 143
2
Folic Acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
3 Hematinics
4 Trace Elements
5 Vitamin B Complex
6 Vitamins
7 Micronutrients
8 Folate Nutraceutical
9 Vitamin B9 Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase
1 Study of Genetic Risk Factors for Spina Bifida and Anencephaly Unknown status NCT00031122
2 Genetics of Neural Tube Defects Unknown status NCT01253746
3 Dosage Effects of Folic Acid on Blood Folates of Honduran Women Completed NCT00207532
4 Blood Folate and Homocysteine Levels Following Administration of Folic Acid According to Different Daily Dosing Schedules:a Simulation of Food Fortification Completed NCT00207558
5 Genetics of Spina Bifida and Anencephaly Recruiting NCT00636233
6 Incidence of Pregnancies and Births With Spina Bifida in Denmark in 2008-2014 Recruiting NCT02685813

Search NIH Clinical Center for Anencephaly

Genetic Tests for Anencephaly

Genetic tests related to Anencephaly:

id Genetic test Affiliating Genes
1 Anencephaly 29

Anatomical Context for Anencephaly

MalaCards organs/tissues related to Anencephaly:

39
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 Tissue Anatomical CompartmentCell Relevance
1 Neural Tube Neural Tube Affected by disease

Publications for Anencephaly

Articles related to Anencephaly:

(show top 50) (show all 519)
id Title Authors Year
1
Changing trends in the prevalence of anencephaly in Liaoning province of Northeast China from 2006-2015: data from a population-based birth defects registry. ( 28514736 )
2017
2
A homozygous mutation in TRIM36 causes autosomal recessive anencephaly in an Indian family. ( 28087737 )
2017
3
A detailed musculoskeletal study of a fetus with anencephaly and spina bifida (craniorachischisis), and comparison with other cases of human congenital malformations. ( 28266009 )
2017
4
Anencephaly: An Ongoing Investigation in Washington State. ( 26914056 )
2016
5
Will the Eastern Mediterranean Region be the first to prevent all of folic acid-preventable spina bifida and anencephaly? ( 26739968 )
2016
6
Making the call: Reporting a cluster of cases of anencephaly. ( 27333230 )
2016
7
EP01.10: Amniotic band syndrome mimicking isolated anencephaly. ( 27646670 )
2016
8
Check the Head: Emergency Ultrasound Diagnosis of Fetal Anencephaly. ( 27429697 )
2016
9
Neonatal organ donors: thinking beyond anencephaly and involving parents and the public. ( 26709614 )
2016
10
Elective ventilation to facilitate organ donation in infants with anencephaly: perinatal professionals' views and an ethical analysis. ( 26676258 )
2016
11
A 2015 global update on folic acid-preventable spina bifida and anencephaly. ( 27418029 )
2016
12
Prolonged unassisted survival in an infant with anencephaly. ( 27799226 )
2016
13
Characteristics of fetuses evaluated due to suspected anencephaly: a population-based cohort study in southern Brazil. ( 25789781 )
2015
14
Primary prevention of neural tube defects in Brazil: insights into anencephaly. ( 26280994 )
2015
15
Timing of detection of anencephaly in The Netherlands. ( 25613559 )
2015
16
Preventable spina bifida and anencephaly in Europe. ( 26178749 )
2015
17
Concomitant omphalocele, anencephaly and arthrogryposis associated with trisomy 18. ( 26043511 )
2015
18
Dichorionic twin pregnancy discordant for anencephaly: two cases with different management. ( 24779254 )
2014
19
Anencephaly and its associated malformations. ( 25386414 )
2014
20
The effect of flurbiprofen on the development of anencephaly in early stage chicken embryos. ( 25365663 )
2014
21
The birth of a monstrous child throughout history: the example of anencephaly between the Egyptian New Empire and the 21st century. ( 25702380 )
2014
22
Oropharyngeal teratoma, oral duplication, cervical diplomyelia and anencephaly in a 22-week fetus: A review of the craniofacial teratoma syndrome. ( 25360518 )
2014
23
MicroRNAs function primarily in the pathogenesis of human anencephaly via the mitogen-activated protein kinase signaling pathway. ( 24634123 )
2014
24
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
25
2012 Update on global prevention of folic acid-preventable spina bifida and anencephaly. ( 24000219 )
2013
26
Association of iniencephaly, anencephaly, and fusion of cervical vertebral bodies: a new autosomal recessive syndrome? ( 23011585 )
2013
27
Recurrent anencephaly: a case report and examination of the VANGL1 and FOXN1 genes. ( 23301910 )
2013
28
Seriously ill woman expecting a baby with anencephaly has waited a month to learn whether she can have an abortion. ( 23633226 )
2013
29
Discordant anencephaly and Cantrell syndrome in monozygotic twins conceived by ICSI and IVF-ET. ( 23915871 )
2013
30
Amniotic fluid and serum biomarkers from women with neural tube defect-affected pregnancies: a case study for myelomeningocele and anencephaly: clinical article. ( 23971635 )
2013
31
Anencephaly and gastroschisis in the same foetus: a rarity. ( 23520683 )
2012
32
Pregnancy termination following prenatal diagnosis of anencephaly or spina bifida: a systematic review of the literature. ( 23097374 )
2012
33
Effect on risk of anencephaly of gene-nutrient interactions between methylenetetrahydrofolate reductase C677T polymorphism and maternal folate, vitamin B12 and homocysteine profile. ( 22230335 )
2012
34
Prenatal diagnosis of a fetus with anencephaly and thumb agenesis. ( 22348786 )
2012
35
Anencephaly: do the pregnancy and maternal characteristics impact the pregnancy outcome? ( 22462001 )
2012
36
Anencephaly does not cause structural alterations in the fetal penis. ( 22239726 )
2012
37
Acrania-anencephaly associated with hypospadias. Prenatal ultrasound and MRI diagnosis and molecular folate metabolism pathway analysis. ( 22443204 )
2012
38
Death of baby with anencephaly after mother was refused an abortion sparks controversy in India. ( 23118330 )
2012
39
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
40
Do assisted conception twins have an increased risk for anencephaly? ( 21984575 )
2011
41
Monoamniotic twins with one fetal anencephaly and cord entanglement diagnosed with three dimensional ultrasound at 14 weeks of gestation. ( 22022209 )
2011
42
"Hugging sisters": thoracoomphalopagus with anencephaly confirmed by three-dimensional ultrasonography at 9 weeks of gestation. ( 21547928 )
2011
43
Prevalence and management of anencephaly at Saidu Teaching Hospital, Swat. ( 22455263 )
2010
44
A case of otocephaly with anencephaly and meningomyelocele. ( 20964124 )
2010
45
Parental occupational exposure to organic solvents and anencephaly in Mexico. ( 19737733 )
2010
46
Anencephaly in a german shepherd dog. ( 20466859 )
2010
47
Postnatal in-vivo MRI findings in anencephaly. ( 21445817 )
2010
48
Prevalence of anencephaly in Gorgan, northern Iran. ( 20039767 )
2010
49
Dicephalus parapagus conjoined twins discordant for anencephaly: a case report. ( 20181096 )
2010
50
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

Variations for Anencephaly

Expression for Anencephaly

Search GEO for disease gene expression data for Anencephaly.

Pathways for Anencephaly

GO Terms for Anencephaly

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

(show all 23)
id Name GO ID Score Top Affiliating Genes
1 anterior/posterior pattern specification GO:0009952 9.77 CELSR1 T VANGL2
2 wound healing GO:0042060 9.75 CELSR1 SCRIB VANGL2
3 cellular amino acid biosynthetic process GO:0008652 9.69 MTHFD1 MTR MTRR
4 hair follicle development GO:0001942 9.65 CELSR1 FOXN1 VANGL2
5 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.62 CELSR1 PRICKLE1 VANGL1 VANGL2
6 cobalamin metabolic process GO:0009235 9.61 MTR MTRR
7 post-anal tail morphogenesis GO:0036342 9.61 T VANGL2
8 establishment or maintenance of epithelial cell apical/basal polarity GO:0045197 9.59 SCRIB VANGL2
9 axon regeneration GO:0031103 9.58 FOLR1 MTR
10 establishment of planar polarity GO:0001736 9.57 CELSR1 VANGL2
11 planar cell polarity pathway involved in neural tube closure GO:0090179 9.56 CELSR1 VANGL2
12 tetrahydrofolate interconversion GO:0035999 9.55 MTHFD1 MTHFR
13 apical protein localization GO:0045176 9.54 CELSR1 VANGL2
14 sulfur amino acid metabolic process GO:0000096 9.52 MTR MTRR
15 establishment of body hair planar orientation GO:0048105 9.49 CELSR1 VANGL2
16 planar dichotomous subdivision of terminal units involved in lung branching morphogenesis GO:0060489 9.43 CELSR1 VANGL2
17 methionine biosynthetic process GO:0009086 9.43 MTHFD1 MTR MTRR
18 lateral sprouting involved in lung morphogenesis GO:0060490 9.4 CELSR1 VANGL2
19 orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis GO:0060488 9.37 CELSR1 VANGL2
20 methionine metabolic process GO:0006555 9.33 MTHFD1 MTHFR MTRR
21 folic acid metabolic process GO:0046655 9.26 FOLR1 MTHFD1 MTHFR MTRR
22 neural tube closure GO:0001843 9.1 CELSR1 MTHFD1 PRICKLE1 SCRIB T VANGL2
23 multicellular organism development GO:0007275 10.06 CELSR1 DACT1 FOXN1 SCRIB SIX3 T

Sources for Anencephaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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