MCID: ANN002
MIFTS: 57

Anencephaly

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Anencephaly

MalaCards integrated aliases for Anencephaly:

Name: Anencephaly 53 37 12 72 49 24 50 71 28 51 41 14
Aprosencephaly 24 51
Anencephalus 24 71
Anph 53 71
Absence of a Large Part of the Brain and the Skull 49
Isolated Anencephaly/exencephaly 55
Congenital Absence of Brain 24
Anencephalia 24

Characteristics:

Orphanet epidemiological data:

55
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;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
onset in utero
death in utero or perinatally
one patient with a confirmed trim36 mutation has been reported (last curated july 2017)


Classifications:



External Ids:

OMIM 53 206500
Disease Ontology 12 DOID:0060668
ICD10 32 00.0 Q00.0
Orphanet 55 ORPHA1048
ICD10 via Orphanet 33 Q00.0
MedGen 39 C0002902
MeSH 41 D000757

Summaries for Anencephaly

NINDS : 50 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. The cause of anencephaly is unknown. Although it is thought that a mother's diet and vitamin intake may play a role, scientists believe that many other factors are also involved. Recent studies have shown that the addition of folic acid (vitamin B9) to the diet of women of childbearing age may significantly reduce the incidence of neural tube defects. Therefore it is recommended that all women of childbearing age consume 0.4 mg of folic acid daily.

MalaCards based summary : Anencephaly, also known as aprosencephaly, is related to craniorachischisis and neural tube defects, folate-sensitive, and has symptoms including primary adrenal insufficiency and spina bifida. An important gene associated with Anencephaly is TRIM36 (Tripartite Motif Containing 36), and among its related pathways/superpathways is One carbon pool by folate. The drugs Triamcinolone 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 embryo

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.

Genetics Home Reference : 24 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 : 49 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

OMIM : 53 Anencephaly is characterized by the absence of cranial vault and brain tissues in the fetus. It is considered an extreme form of neural tube defect (182940) (summary by Singh et al., 2017). (206500)

UniProtKB/Swiss-Prot : 71 Anencephaly: An extreme form of neural tube defect resulting in the absence of brain tissues, and death in utero or perinatally. Infants are born with intact spinal cords, cerebellums, and brainstems, but lack formation of neural structures above this level. The skull is only partially formed. ANPH inheritance is autosomal recessive.

Wikipedia : 72 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 98)
# Related Disease Score Top Affiliating Genes
1 craniorachischisis 32.4 CELSR1 DACT1 SCRIB VANGL2
2 neural tube defects, folate-sensitive 32.2 MTHFD1 MTHFR MTRR PARD3
3 neural tube defects 29.2 ACHE AFP CELSR1 DACT1 MARCKS MARCKSL1
4 myelomeningocele 28.7 CELSR1 DACT1 MTHFD1 MTHFR MTRR PRICKLE1
5 anencephaly and spina bifida x-linked 12.1
6 encephalocele anencephaly 11.9
7 iniencephaly 11.4
8 encephalocele 11.3
9 exencephaly 11.2
10 acalvaria 11.2
11 acrocallosal syndrome 11.2
12 hydrolethalus syndrome 2 11.0
13 cerebellar agenesis 10.8
14 schisis association 10.8
15 nondisjunction 10.4 MTHFR MTRR
16 testicular infarct 10.4 AFP MTHFR
17 megaloblastic anemia 10.3 MTHFD1 MTHFR MTRR
18 alpha-fetoprotein deficiency 10.3
19 strabismus 10.2 PRICKLE1 VANGL1 VANGL2
20 physical disorder 10.1 AFP MTHFR SIX3
21 patau syndrome 10.1 AFP SIX3
22 upper thoracic spina bifida cystica 10.0 MTHFD1 MTHFR TBXT VANGL1 VANGL2
23 cervicothoracic spina bifida cystica 10.0 MTHFD1 MTHFR TBXT VANGL1 VANGL2
24 medeira-dennis-donnai syndrome 10.0
25 cervical spina bifida cystica 10.0 MTHFD1 MTHFR TBXT VANGL1 VANGL2
26 lumbosacral spina bifida cystica 10.0 MTHFD1 MTHFR TBXT VANGL1 VANGL2
27 thoracolumbosacral spina bifida cystica 10.0 MTHFD1 MTHFR TBXT VANGL1 VANGL2
28 total spina bifida cystica 10.0 MTHFD1 MTHFR TBXT VANGL1 VANGL2
29 upper thoracic spina bifida aperta 10.0 MTHFD1 MTHFR TBXT VANGL1 VANGL2
30 thoracolumbosacral spina bifida aperta 10.0 MTHFD1 MTHFR TBXT VANGL1 VANGL2
31 lumbosacral spina bifida aperta 10.0 MTHFD1 MTHFR TBXT VANGL1 VANGL2
32 cervical spina bifida aperta 10.0 MTHFD1 MTHFR TBXT VANGL1 VANGL2
33 cervicothoracic spina bifida aperta 10.0 MTHFD1 MTHFR TBXT VANGL1 VANGL2
34 total spina bifida aperta 10.0 MTHFD1 MTHFR TBXT VANGL1 VANGL2
35 polydactyly 9.9
36 omphalocele 9.9
37 amniotic band syndrome 9.9
38 sirenomelia 9.9
39 diprosopus 9.9
40 nephrotic syndrome, type 1 9.9 ACHE AFP
41 open iniencephaly 9.9
42 closed iniencephaly 9.9
43 microcephaly 9.9
44 neuronitis 9.9
45 cleft lip 9.9
46 porencephaly 9.8 MTHFR SIX3
47 aging 9.8
48 arthrogryposis multiplex congenita, neurogenic, with myelin defect 9.8
49 holoprosencephaly 9.8
50 hydrocephalus 9.8

Graphical network of the top 20 diseases related to Anencephaly:



Diseases related to Anencephaly

Symptoms & Phenotypes for Anencephaly

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
anencephaly
rachischisis
neural tube defect


Clinical features from OMIM:

206500

Human phenotypes related to Anencephaly:

55 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 primary adrenal insufficiency 55 31 hallmark (90%) Very frequent (99-80%) HP:0008207
2 anencephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0002323
3 spina bifida 31 HP:0002414

MGI Mouse Phenotypes related to Anencephaly:

43 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.35 ACHE CELSR1 DACT1 FOXN1 KIF7 MTHFD1
2 embryo MP:0005380 10.31 MTHFD1 PARD3 PRICKLE1 SCRIB SIX3 TBXT
3 mortality/aging MP:0010768 10.31 SCRIB SIX3 TBXT VANGL1 VANGL2 PARD3
4 cardiovascular system MP:0005385 10.24 VANGL2 DACT1 FOXN1 KIF7 MTHFD1 PARD3
5 nervous system MP:0003631 10.21 PRICKLE1 SCRIB SIX3 TBXT VANGL1 VANGL2
6 limbs/digits/tail MP:0005371 10.17 CELSR1 DACT1 KIF7 MTHFD1 MTHFR PARD3
7 craniofacial MP:0005382 10.13 ACHE CELSR1 KIF7 PRICKLE1 SCRIB SIX3
8 digestive/alimentary MP:0005381 10.05 DACT1 KIF7 PRICKLE1 SCRIB SIX3 TBXT
9 reproductive system MP:0005389 10.03 TBXT VANGL1 VANGL2 ACHE AFP CELSR1
10 hearing/vestibular/ear MP:0005377 10 ACHE CELSR1 FOXN1 VANGL2 PRICKLE1 SCRIB
11 no phenotypic analysis MP:0003012 9.97 ACHE DACT1 KIF7 MTHFR PARD3 PRICKLE1
12 respiratory system MP:0005388 9.76 ACHE CELSR1 KIF7 PRICKLE1 SCRIB SIX3
13 skeleton MP:0005390 9.65 CELSR1 DACT1 FOXN1 KIF7 MTHFR PRICKLE1
14 vision/eye MP:0005391 9.36 ACHE CELSR1 FOXN1 KIF7 MARCKSL1 MTHFR

Drugs & Therapeutics for Anencephaly

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

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Triamcinolone Approved, Vet_approved 124-94-7 31307
2
Folic Acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
3
leucovorin Approved, Nutraceutical 58-05-9 143 6006
4 Hematinics
5 Micronutrients
6 Trace Elements
7 Vitamin B Complex
8 Vitamins
9 triamcinolone acetonide
10 Triamcinolone diacetate
11 Triamcinolone hexacetonide
12 Folate Nutraceutical
13 Vitamin B9 Nutraceutical

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of Genetic Risk Factors for Spina Bifida and Anencephaly Unknown status NCT00031122
2 Genetics of Neural Tube Defects Unknown status NCT01253746
3 Incidence of Pregnancies and Births With Spina Bifida in Denmark in 2008-2014 Unknown status NCT02685813
4 Dosage Effects of Folic Acid on Blood Folates of Honduran Women Completed NCT00207532 folic acid
5 Blood Folate and Homocysteine Levels Following Administration of Folic Acid According to Different Daily Dosing Schedules:a Simulation of Food Fortification Completed NCT00207558 folic acid
6 The Will Erwin Headache Research Center - Cluster Headache Study Recruiting NCT02910323
7 Genetics of Spina Bifida and Anencephaly Active, not recruiting NCT00636233

Search NIH Clinical Center for Anencephaly

Cochrane evidence based reviews: anencephaly

Genetic Tests for Anencephaly

Genetic tests related to Anencephaly:

# Genetic test Affiliating Genes
1 Anencephaly 28

Anatomical Context for Anencephaly

MalaCards organs/tissues related to Anencephaly:

38
Brain, Bone, Spinal Cord, Skin, Cerebellum, Lung, Testes
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Anencephaly:
# Tissue Anatomical CompartmentCell Relevance
1 Neural Tube Neural Tube Affected by disease

Publications for Anencephaly

Articles related to Anencephaly:

(show top 50) (show all 524)
# Title Authors Year
1
A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly. ( 29205322 )
2017
2
Molecular cytogenetic characterization of a duplication of 15q24.2-q26.2 associated with anencephaly and neural tube defect. ( 28805617 )
2017
3
A homozygous mutation in TRIM36 causes autosomal recessive anencephaly in an Indian family. ( 28087737 )
2017
4
Total prevention of folic acid-preventable spina bifida and anencephaly would reduce child mortality in India: Implications in achieving Target 3.2 of the Sustainable Development Goals. ( 29195033 )
2017
5
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
6
Changing trends in the prevalence of anencephaly in Liaoning province of Northeast China from 2006-2015: data from a population-based birth defects registry. ( 28881776 )
2017
7
Prenatal diagnosis of sirenomelia with anencephaly and craniorachischisis totalis: A case report study. ( 29390297 )
2017
8
A detailed musculoskeletal study of a fetus with anencephaly and spina bifida (craniorachischisis), and comparison with other cases of human congenital malformations. ( 28266009 )
2017
9
A 2015 global update on folic acid-preventable spina bifida and anencephaly. ( 27418029 )
2016
10
EP01.10: Amniotic band syndrome mimicking isolated anencephaly. ( 27646670 )
2016
11
Making the call: Reporting a cluster of cases of anencephaly. ( 27333230 )
2016
12
Prolonged unassisted survival in an infant with anencephaly. ( 27799226 )
2016
13
Neonatal organ donors: thinking beyond anencephaly and involving parents and the public. ( 26709614 )
2016
14
Elective ventilation to facilitate organ donation in infants with anencephaly: perinatal professionals' views and an ethical analysis. ( 26676258 )
2016
15
Will the Eastern Mediterranean Region be the first to prevent all of folic acid-preventable spina bifida and anencephaly? ( 26739968 )
2016
16
Anencephaly: An Ongoing Investigation in Washington State. ( 26914056 )
2016
17
Check the Head: Emergency Ultrasound Diagnosis of Fetal Anencephaly. ( 27429697 )
2016
18
Concomitant omphalocele, anencephaly and arthrogryposis associated with trisomy 18. ( 26043511 )
2015
19
Characteristics of fetuses evaluated due to suspected anencephaly: a population-based cohort study in southern Brazil. ( 25789781 )
2015
20
Timing of detection of anencephaly in The Netherlands. ( 25613559 )
2015
21
Preventable spina bifida and anencephaly in Europe. ( 26178749 )
2015
22
Primary prevention of neural tube defects in Brazil: insights into anencephaly. ( 26280994 )
2015
23
Anencephaly and its associated malformations. ( 25386414 )
2014
24
The birth of a monstrous child throughout history: the example of anencephaly between the Egyptian New Empire and the 21st century. ( 25702380 )
2014
25
Oropharyngeal teratoma, oral duplication, cervical diplomyelia and anencephaly in a 22-week fetus: A review of the craniofacial teratoma syndrome. ( 25360518 )
2014
26
MicroRNAs function primarily in the pathogenesis of human anencephaly via the mitogen-activated protein kinase signaling pathway. ( 24634123 )
2014
27
Dichorionic twin pregnancy discordant for anencephaly: two cases with different management. ( 24779254 )
2014
28
The effect of flurbiprofen on the development of anencephaly in early stage chicken embryos. ( 25365663 )
2014
29
Discordant anencephaly and Cantrell syndrome in monozygotic twins conceived by ICSI and IVF-ET. ( 23915871 )
2013
30
2012 Update on global prevention of folic acid-preventable spina bifida and anencephaly. ( 24000219 )
2013
31
Amniotic fluid and serum biomarkers from women with neural tube defect-affected pregnancies: a case study for myelomeningocele and anencephaly: clinical article. ( 23971635 )
2013
32
Association of iniencephaly, anencephaly, and fusion of cervical vertebral bodies: a new autosomal recessive syndrome? ( 23011585 )
2013
33
Recurrent anencephaly: a case report and examination of the VANGL1 and FOXN1 genes. ( 23301910 )
2013
34
Seriously ill woman expecting a baby with anencephaly has waited a month to learn whether she can have an abortion. ( 23633226 )
2013
35
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
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
Pregnancy termination following prenatal diagnosis of anencephaly or spina bifida: a systematic review of the literature. ( 23097374 )
2012
39
Anencephaly and gastroschisis in the same foetus: a rarity. ( 23520683 )
2012
40
Death of baby with anencephaly after mother was refused an abortion sparks controversy in India. ( 23118330 )
2012
41
Effect on risk of anencephaly of gene-nutrient interactions between methylenetetrahydrofolate reductase C677T polymorphism and maternal folate, vitamin B12 and homocysteine profile. ( 22230335 )
2012
42
Prenatal diagnosis of a fetus with anencephaly and thumb agenesis. ( 22348786 )
2012
43
Anencephaly: do the pregnancy and maternal characteristics impact the pregnancy outcome? ( 22462001 )
2012
44
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
45
Monoamniotic twins with one fetal anencephaly and cord entanglement diagnosed with three dimensional ultrasound at 14 weeks of gestation. ( 22022209 )
2011
46
Do assisted conception twins have an increased risk for anencephaly? ( 21984575 )
2011
47
"Hugging sisters": thoracoomphalopagus with anencephaly confirmed by three-dimensional ultrasonography at 9 weeks of gestation. ( 21547928 )
2011
48
The natural history of anencephaly. ( 20198650 )
2010
49
Complete ectopia cordis with anencephaly: a case report. ( 20232401 )
2010
50
Dicephalus parapagus conjoined twins discordant for anencephaly: a case report. ( 20181096 )
2010

Variations for Anencephaly

UniProtKB/Swiss-Prot genetic disease variations for Anencephaly:

71
# Symbol AA change Variation ID SNP ID
1 TRIM36 p.Asp518Asn VAR_079581

ClinVar genetic disease variations for Anencephaly:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TRIM36 NM_018700.3(TRIM36): c.1522C> A (p.Pro508Thr) single nucleotide variant Pathogenic rs773607884 GRCh37 Chromosome 5, 114469569: 114469569

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 19)
# Name GO ID Score Top Affiliating Genes
1 anterior/posterior pattern specification GO:0009952 9.75 CELSR1 TBXT VANGL2
2 wound healing GO:0042060 9.73 CELSR1 SCRIB VANGL2
3 hair follicle development GO:0001942 9.63 CELSR1 FOXN1 VANGL2
4 post-anal tail morphogenesis GO:0036342 9.58 TBXT VANGL2
5 establishment or maintenance of epithelial cell apical/basal polarity GO:0045197 9.57 SCRIB VANGL2
6 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.56 CELSR1 PRICKLE1 VANGL1 VANGL2
7 establishment of planar polarity GO:0001736 9.55 CELSR1 VANGL2
8 planar cell polarity pathway involved in neural tube closure GO:0090179 9.54 CELSR1 VANGL2
9 tetrahydrofolate interconversion GO:0035999 9.52 MTHFD1 MTHFR
10 apical protein localization GO:0045176 9.51 CELSR1 VANGL2
11 methionine biosynthetic process GO:0009086 9.49 MTHFD1 MTRR
12 establishment of body hair planar orientation GO:0048105 9.48 CELSR1 VANGL2
13 planar dichotomous subdivision of terminal units involved in lung branching morphogenesis GO:0060489 9.4 CELSR1 VANGL2
14 lateral sprouting involved in lung morphogenesis GO:0060490 9.37 CELSR1 VANGL2
15 folic acid metabolic process GO:0046655 9.33 MTHFD1 MTHFR MTRR
16 orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis GO:0060488 9.32 CELSR1 VANGL2
17 methionine metabolic process GO:0006555 9.13 MTHFD1 MTHFR MTRR
18 neural tube closure GO:0001843 9.1 CELSR1 MTHFD1 PRICKLE1 SCRIB TBXT VANGL2
19 multicellular organism development GO:0007275 10.03 CELSR1 DACT1 FOXN1 SCRIB SIX3 TBXT

Sources for Anencephaly

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