MCID: ANN002
MIFTS: 56

Anencephaly

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

Aliases & Classifications for Anencephaly

MalaCards integrated aliases for Anencephaly:

Name: Anencephaly 57 38 12 76 53 25 75 29 55 44 15 40
Anencephalus 25 75 6
Aprosencephaly 25 55
Anph 57 75
Absence of a Large Part of the Brain and the Skull 53
Isolated Anencephaly/exencephaly 59
Congenital Absence of Brain 25
Anencephalia 25

Characteristics:

Orphanet epidemiological data:

59
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:

57
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 57 206500
Disease Ontology 12 DOID:0060668
ICD10 33 00.0 Q00.0
Orphanet 59 ORPHA1048
ICD10 via Orphanet 34 Q00.0
MedGen 42 C0002902
MeSH 44 D000757

Summaries for Anencephaly

NINDS : 54 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 anencephalus, is related to neural tube defects, folate-sensitive and craniorachischisis. 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 primary adrenal insufficiency and anencephaly

OMIM : 57 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 : 75 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.

NIH Rare Diseases : 53 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.

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.

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 : 76 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 88)
# Related Disease Score Top Affiliating Genes
1 neural tube defects, folate-sensitive 32.6 MTHFD1 MTHFR MTRR
2 craniorachischisis 32.5 CELSR1 DACT1 SCRIB VANGL2
3 gastroschisis 29.5 ACHE AFP MTHFR
4 myelomeningocele 28.2 CELSR1 DACT1 MTHFD1 MTHFR PRICKLE1 SCRIB
5 neural tube defects 28.0 ACHE AFP CELSR1 DACT1 MARCKSL1 MTHFD1
6 anencephaly and spina bifida x-linked 12.1
7 encephalocele anencephaly 11.9
8 iniencephaly 11.4
9 encephalocele 11.3
10 exencephaly 11.2
11 acalvaria 11.2
12 acrocallosal syndrome 11.2
13 hydrolethalus syndrome 2 11.0
14 cerebellar agenesis 10.8
15 schisis association 10.8
16 nondisjunction 10.6 MTHFR MTRR
17 testicular infarct 10.6 AFP MTHFR
18 megaloblastic anemia 10.4 MTHFD1 MTHFR MTRR
19 strabismus 10.3 PRICKLE1 VANGL1 VANGL2
20 upper thoracic spina bifida cystica 10.2 MTHFD1 MTHFR TBXT VANGL1 VANGL2
21 cervicothoracic spina bifida cystica 10.1 MTHFD1 MTHFR TBXT VANGL1 VANGL2
22 cervical spina bifida cystica 10.1 MTHFD1 MTHFR TBXT VANGL1 VANGL2
23 lumbosacral spina bifida cystica 10.1 MTHFD1 MTHFR TBXT VANGL1 VANGL2
24 thoracolumbosacral spina bifida cystica 10.1 MTHFD1 MTHFR TBXT VANGL1 VANGL2
25 total spina bifida cystica 10.1 MTHFD1 MTHFR TBXT VANGL1 VANGL2
26 patau syndrome 10.1 AFP SIX3
27 upper thoracic spina bifida aperta 10.1 MTHFD1 MTHFR TBXT VANGL1 VANGL2
28 thoracolumbosacral spina bifida aperta 10.1 MTHFD1 MTHFR TBXT VANGL1 VANGL2
29 lumbosacral spina bifida aperta 10.1 MTHFD1 MTHFR TBXT VANGL1 VANGL2
30 placenta disease 10.1
31 cervical spina bifida aperta 10.1 MTHFD1 MTHFR TBXT VANGL1 VANGL2
32 cervicothoracic spina bifida aperta 10.0 MTHFD1 MTHFR TBXT VANGL1 VANGL2
33 medeira-dennis-donnai syndrome 10.0
34 total spina bifida aperta 10.0 MTHFD1 MTHFR TBXT VANGL1 VANGL2
35 porencephaly 10.0 MTHFR SIX3
36 polydactyly 10.0
37 omphalocele 10.0
38 amniotic band syndrome 10.0
39 sirenomelia 10.0
40 diprosopus 10.0
41 aging 9.9
42 microcephaly 9.9
43 neuronitis 9.9
44 cleft lip 9.9
45 cleft lip/palate 9.9
46 open iniencephaly 9.9
47 closed iniencephaly 9.9
48 holoprosencephaly 9.8
49 hydrocephalus 9.8
50 cervicitis 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:

57
Neurologic Central Nervous System:
anencephaly
rachischisis
neural tube defect


Clinical features from OMIM:

206500

Human phenotypes related to Anencephaly:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 primary adrenal insufficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0008207
2 anencephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002323
3 spina bifida 32 HP:0002414

MGI Mouse Phenotypes related to Anencephaly:

46 (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 CELSR1 DACT1 FOXN1 KIF7 MARCKSL1 MTHFD1
3 mortality/aging MP:0010768 10.31 ACHE AFP CELSR1 DACT1 FOXN1 KIF7
4 cardiovascular system MP:0005385 10.24 DACT1 FOXN1 KIF7 MTHFD1 PARD3 PRICKLE1
5 nervous system MP:0003631 10.24 MTHFD1 MTHFR PARD3 PRICKLE1 SCRIB SIX3
6 limbs/digits/tail MP:0005371 10.17 KIF7 MTHFD1 MTHFR PARD3 PRICKLE1 SCRIB
7 craniofacial MP:0005382 10.13 ACHE CELSR1 KIF7 PRICKLE1 SCRIB SIX3
8 digestive/alimentary MP:0005381 10.05 SCRIB SIX3 TBXT VANGL2 DACT1 KIF7
9 reproductive system MP:0005389 10.03 VANGL1 VANGL2 ACHE AFP CELSR1 DACT1
10 hearing/vestibular/ear MP:0005377 10 FOXN1 PRICKLE1 SCRIB VANGL1 VANGL2 ACHE
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 FOXN1 KIF7 MTHFR PRICKLE1 SIX3 TBXT
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 Not Applicable 59-30-3 6037
3
leucovorin Approved, Nutraceutical Not Applicable 58-05-9 143 6006
4 Hematinics Not Applicable
5 Micronutrients Not Applicable
6 Trace Elements Not Applicable
7 Vitamin B Complex Not Applicable
8 Vitamins Not Applicable
9 triamcinolone acetonide
10 Triamcinolone diacetate
11 Triamcinolone hexacetonide
12 Folate Nutraceutical Not Applicable
13 Vitamin B9 Nutraceutical Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pain Biomarker Study Active, not recruiting NCT03511846 Phase 1 Oral capsaicin;Topical capsaicin;Intranasal capsaicin;Low Flow Oxygen;High Flow Oxygen
2 Study of Genetic Risk Factors for Spina Bifida and Anencephaly Unknown status NCT00031122
3 Genetics of Neural Tube Defects Unknown status NCT01253746
4 Incidence of Pregnancies and Births With Spina Bifida in Denmark in 2008-2014 Unknown status NCT02685813
5 Dosage Effects of Folic Acid on Blood Folates of Honduran Women Completed NCT00207532 Not Applicable folic acid
6 Blood Folate and Homocysteine Levels Following Administration of Folic Acid According to Different Daily Dosing Schedules:a Simulation of Food Fortification Completed NCT00207558 Not Applicable folic acid
7 The Will Erwin Headache Research Center - Cluster Headache Study Recruiting NCT02910323
8 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 29

Anatomical Context for Anencephaly

MalaCards organs/tissues related to Anencephaly:

41
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 532)
# Title Authors Year
1
Maternal association and influence of DHFR 19a88bp deletion variant predisposes foetus to anencephaly susceptibility: a family-based triad study. ( 29708443 )
2018
2
Anencephaly and obstetric outcome beyond the age of viability. ( 29570453 )
2018
3
Countries with an immediate potential for primary prevention of spina bifida and anencephaly: Mandatory fortification of wheat flour with folic acid. ( 29532629 )
2018
4
Meckel Gruber syndrome associated with anencephaly-an unusual reported case. ( 29479449 )
2018
5
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
6
Prenatal diagnosis of sirenomelia with anencephaly and craniorachischisis totalis: A case report study. ( 29390297 )
2017
7
A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly. ( 29205322 )
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
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
10
A homozygous mutation in TRIM36 causes autosomal recessive anencephaly in an Indian family. ( 28087737 )
2017
11
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
12
Molecular cytogenetic characterization of a duplication of 15q24.2-q26.2 associated with anencephaly and neural tube defect. ( 28805617 )
2017
13
Anencephaly: An Ongoing Investigation in Washington State. ( 26914056 )
2016
14
A 2015 global update on folic acid-preventable spina bifida and anencephaly. ( 27418029 )
2016
15
Prolonged unassisted survival in an infant with anencephaly. ( 27799226 )
2016
16
Check the Head: Emergency Ultrasound Diagnosis of Fetal Anencephaly. ( 27429697 )
2016
17
Making the call: Reporting a cluster of cases of anencephaly. ( 27333230 )
2016
18
Neonatal organ donors: thinking beyond anencephaly and involving parents and the public. ( 26709614 )
2016
19
EP01.10: Amniotic band syndrome mimicking isolated anencephaly. ( 27646670 )
2016
20
Elective ventilation to facilitate organ donation in infants with anencephaly: perinatal professionals' views and an ethical analysis. ( 26676258 )
2016
21
Will the Eastern Mediterranean Region be the first to prevent all of folic acid-preventable spina bifida and anencephaly? ( 26739968 )
2016
22
Characteristics of fetuses evaluated due to suspected anencephaly: a population-based cohort study in southern Brazil. ( 25789781 )
2015
23
Preventable spina bifida and anencephaly in Europe. ( 26178749 )
2015
24
Primary prevention of neural tube defects in Brazil: insights into anencephaly. ( 26280994 )
2015
25
Concomitant omphalocele, anencephaly and arthrogryposis associated with trisomy 18. ( 26043511 )
2015
26
Timing of detection of anencephaly in The Netherlands. ( 25613559 )
2015
27
Oropharyngeal teratoma, oral duplication, cervical diplomyelia and anencephaly in a 22-week fetus: A review of the craniofacial teratoma syndrome. ( 25360518 )
2014
28
Dichorionic twin pregnancy discordant for anencephaly: two cases with different management. ( 24779254 )
2014
29
The birth of a monstrous child throughout history: the example of anencephaly between the Egyptian New Empire and the 21st century. ( 25702380 )
2014
30
The effect of flurbiprofen on the development of anencephaly in early stage chicken embryos. ( 25365663 )
2014
31
MicroRNAs function primarily in the pathogenesis of human anencephaly via the mitogen-activated protein kinase signaling pathway. ( 24634123 )
2014
32
Anencephaly and its associated malformations. ( 25386414 )
2014
33
Discordant anencephaly and Cantrell syndrome in monozygotic twins conceived by ICSI and IVF-ET. ( 23915871 )
2013
34
Amniotic fluid and serum biomarkers from women with neural tube defect-affected pregnancies: a case study for myelomeningocele and anencephaly: clinical article. ( 23971635 )
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
Seriously ill woman expecting a baby with anencephaly has waited a month to learn whether she can have an abortion. ( 23633226 )
2013
37
2012 Update on global prevention of folic acid-preventable spina bifida and anencephaly. ( 24000219 )
2013
38
Recurrent anencephaly: a case report and examination of the VANGL1 and FOXN1 genes. ( 23301910 )
2013
39
Association of iniencephaly, anencephaly, and fusion of cervical vertebral bodies: a new autosomal recessive syndrome? ( 23011585 )
2013
40
Prenatal diagnosis of a fetus with anencephaly and thumb agenesis. ( 22348786 )
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
Anencephaly does not cause structural alterations in the fetal penis. ( 22239726 )
2012
43
Anencephaly and gastroschisis in the same foetus: a rarity. ( 23520683 )
2012
44
Pregnancy termination following prenatal diagnosis of anencephaly or spina bifida: a systematic review of the literature. ( 23097374 )
2012
45
Acrania-anencephaly associated with hypospadias. Prenatal ultrasound and MRI diagnosis and molecular folate metabolism pathway analysis. ( 22443204 )
2012
46
Anencephaly: do the pregnancy and maternal characteristics impact the pregnancy outcome? ( 22462001 )
2012
47
Death of baby with anencephaly after mother was refused an abortion sparks controversy in India. ( 23118330 )
2012
48
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
49
Do assisted conception twins have an increased risk for anencephaly? ( 21984575 )
2011
50
"Hugging sisters": thoracoomphalopagus with anencephaly confirmed by three-dimensional ultrasonography at 9 weeks of gestation. ( 21547928 )
2011

Variations for Anencephaly

UniProtKB/Swiss-Prot genetic disease variations for Anencephaly:

75
# 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
2 TRIM36 NM_018700.3(TRIM36): c.1522C> A (p.Pro508Thr) single nucleotide variant Pathogenic rs773607884 GRCh38 Chromosome 5, 115133872: 115133872

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 20)
# Name GO ID Score Top Affiliating Genes
1 anterior/posterior pattern specification GO:0009952 9.76 CELSR1 TBXT VANGL2
2 wound healing GO:0042060 9.75 CELSR1 SCRIB VANGL2
3 hair follicle development GO:0001942 9.65 CELSR1 FOXN1 VANGL2
4 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.62 CELSR1 PRICKLE1 VANGL1 VANGL2
5 post-anal tail morphogenesis GO:0036342 9.59 TBXT VANGL2
6 establishment of planar polarity GO:0001736 9.57 CELSR1 VANGL2
7 planar cell polarity pathway involved in neural tube closure GO:0090179 9.56 CELSR1 VANGL2
8 tetrahydrofolate interconversion GO:0035999 9.55 MTHFD1 MTHFR
9 apical protein localization GO:0045176 9.54 CELSR1 VANGL2
10 methionine biosynthetic process GO:0009086 9.52 MTHFD1 MTRR
11 homocysteine metabolic process GO:0050667 9.51 MTHFR MTRR
12 establishment of body hair planar orientation GO:0048105 9.49 CELSR1 VANGL2
13 lateral sprouting involved in lung morphogenesis GO:0060490 9.43 CELSR1 VANGL2
14 folic acid metabolic process GO:0046655 9.43 MTHFD1 MTHFR MTRR
15 orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis GO:0060488 9.4 CELSR1 VANGL2
16 planar dichotomous subdivision of terminal units involved in lung branching morphogenesis GO:0060489 9.37 CELSR1 VANGL2
17 establishment or maintenance of epithelial cell apical/basal polarity GO:0045197 9.33 PARD3 SCRIB VANGL2
18 methionine metabolic process GO:0006555 9.13 MTHFD1 MTHFR MTRR
19 neural tube closure GO:0001843 9.1 CELSR1 MTHFD1 PRICKLE1 SCRIB TBXT VANGL2
20 multicellular organism development GO:0007275 10.06 CELSR1 DACT1 FOXN1 SCRIB SIX3 TBXT

Sources for Anencephaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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