MCID: ANN002
MIFTS: 50

Anencephaly malady

Categories: Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Anencephaly

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Aliases & Descriptions for Anencephaly:

Name: Anencephaly 50 33 46 24 47 25 48
Aprosencephaly 24 48
Absence of a Large Part of the Brain and the Skull 46
Isolated Anencephaly/exencephaly 52
 
Congenital Absence of Brain 24
Anencephalia 24
Anencephalus 24

Characteristics:

Orphanet epidemiological data:

52
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:

OMIM50 206500
Orphanet52 ORPHA1048
ICD10 via Orphanet29 Q00.0
ICD1028 Q00.0

Summaries for Anencephaly

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NIH Rare Diseases:46 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 open iniencephaly and closed iniencephaly, 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 Selenium Pathway and Folate Metabolism. Affiliated tissues include brain, bone and skin, and related mouse phenotypes are no phenotypic analysis and limbs/digits/tail.

NINDS:47 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: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.

OMIM:50 Anencephaly is considered an extreme form of neural tube defect (182940), which has been associated with variation in... (206500) more...

Wikipedia:69 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 93)
idRelated DiseaseScoreTop Affiliating Genes
1open iniencephaly29.5MTHFR, T, VANGL2
2closed iniencephaly29.5MTHFR, T, VANGL2
3neural tube defects, folate-sensitive29.3MTHFR, MTR, MTRR
4neural tube defects28.7AFP, MTHFR, MTR, MTRR, PRICKLE1, T
5anencephaly and spina bifida x-linked12.0
6encephalocele anencephaly11.9
7iniencephaly10.9
8vangl1-related neural tube defect10.9
9exencephaly10.6
10craniorachischisis10.6
11encephalocele10.6
12acalvaria10.6
13nutritional deficiency disease10.3AFP, MTHFR
14dermatitis10.3AFP, MTHFR
15homocystinuria due to mthfr deficiency10.2MTHFR, MTR
16lip carcinoma in situ10.2AFP, MTHFR
17cervix erosion10.2AFP, MTHFR
18serine deficiency10.2MTHFR, MTR
19methylmalonic aciduria and homocystinuria type cblg10.2MTHFR, MTR
20choroid necrotic melanoma10.1AFP, MTHFR
21waardenburg's syndrome10.1MTHFR, MTR
22medeira-dennis-donnai syndrome10.0
23hydrolethalus syndrome 210.0
24omphalocele10.0
25polydactyly10.0
26amniotic band syndrome10.0
27diprosopus10.0
28microcephaly9.9
29neuronitis9.9
30cleft lip9.9
31sirenomelia9.9
32vaginal adenoma9.9PRICKLE1, VANGL2
33congenital hypomyelination neuropathy9.9MTHFR, MTR
34cerebellar agenesis9.9
35acrocallosal syndrome9.8
36holoprosencephaly9.8
37hydrocephalus9.8
38myelomeningocele9.8
39cervicitis9.8
40birth defects9.8
41congenital intrinsic factor deficiency9.8MTR, MTRR
42x-linked disease9.8MTR, MTRR
43cervical spina bifida cystica9.8MTHFR, T, VANGL2
44thoracolumbosacral spina bifida cystica9.8MTHFR, T, VANGL2
45total spina bifida cystica9.8MTHFR, T, VANGL2
46upper thoracic spina bifida aperta9.8MTHFR, T, VANGL2
47occipital encephalocele9.8MTHFR, T, VANGL2
48cranial meningocele9.8MTHFR, T, VANGL2
49dysferlinopathy9.8MTR, MTRR
50myelocystocele9.8MTHFR, T, VANGL2

Graphical network of the top 20 diseases related to Anencephaly:



Diseases related to anencephaly

Symptoms for Anencephaly

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Symptoms by clinical synopsis from OMIM:

206500

Clinical features from OMIM:

206500

Symptoms:

 52
  • anencephaly
  • primary adrenal insufficiency

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Folic AcidNutraceutical414359-30-36037
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
2FolateNutraceutical4143

Interventional clinical trials:

idNameStatusNCT IDPhase
1Dosage Effects of Folic Acid on Blood Folates of Honduran WomenCompletedNCT00207532
2Blood Folate and Homocysteine Levels Following Administration of Folic Acid According to Different Daily Dosing Schedules:a Simulation of Food FortificationCompletedNCT00207558
3Genetics of Spina Bifida and AnencephalyRecruitingNCT00636233
4Genetics of Neural Tube DefectsRecruitingNCT01253746
5Incidence of Pregnancies and Births With Spina Bifida in Denmark in 2008-2014RecruitingNCT02685813
6Study of Genetic Risk Factors for Spina Bifida and AnencephalyActive, not recruitingNCT00031122

Search NIH Clinical Center for Anencephaly

Genetic Tests for Anencephaly

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Genetic tests related to Anencephaly:

id Genetic test Affiliating Genes
1 Anencephaly25

Anatomical Context for Anencephaly

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MalaCards organs/tissues related to Anencephaly:

34
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

Animal Models for Anencephaly or affiliated genes

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MGI Mouse Phenotypes related to Anencephaly:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.6MTHFR, PRICKLE1, T, VANGL2
2MP:00053718.5MTHFR, PRICKLE1, T, VANGL2
3MP:00107687.5AFP, MTHFR, MTR, PRICKLE1, T, VANGL2

Publications for Anencephaly

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Articles related to Anencephaly:

(show top 50)    (show all 515)
idTitleAuthorsYear
1
Primary prevention of neural tube defects in Brazil: insights into anencephaly. (26280994)
2015
2
Association of iniencephaly, anencephaly, and fusion of cervical vertebral bodies: a new autosomal recessive syndrome? (23011585)
2013
3
Parental occupational exposure to organic solvents and anencephaly in Mexico. (19737733)
2010
4
Postnatal in-vivo MRI findings in anencephaly. (21445817)
2010
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
A case report of recurrent anencephaly and literature review. (17089587)
2006
7
Monoamniotic twins discordant for anencephaly managed conservatively with good outcomes: two case reports and a review of the literature. (16041680)
2005
8
Anencephaly: structural characterization of gangliosides in defined brain regions. (11308024)
2001
9
The diurnal rhythm in fetal heart rate in a twin pregnancy with discordant anencephaly: comparison with three normal twin pregnancies. (9131306)
1997
10
Concordant anencephaly in monoamniotic twins and an analysis of maternal serum markers. (9178324)
1997
11
Comparison of national policies on periconceptional use of folic acid to prevent spina bifida and anencephaly (SBA). (9143094)
1997
12
Spina bifida, anencephaly, and folic acid: what do they have to do with neurosurgery? (7892654)
1995
13
Folic acid-preventable spina bifida and anencephaly. (8437310)
1993
14
Discordant anencephaly with a cleft lip and palate in a pergonal-induced triplet pregnancy. (1453300)
1992
15
Anencephaly and the interruption of pregnancy: policy proposals for HECs. (10119668)
1992
16
Anencephaly and limb deficiencies. (1519654)
1992
17
Development of anencephaly and its variants. (2048550)
1991
18
Morphological evaluation for neuronal maturation in anencephaly and encephalocele in human neonates. A proposal of reclassification of cephalic dysraphism. (2257550)
1990
19
Sonography of anencephaly: pitfalls in early diagnosis. (2506226)
1989
20
Epidemiology of anencephaly in Texas, 1981-1986. (2756489)
1989
21
Prenatal diagnosis of anencephaly: spectrum of sonographic appearances and distinction from the amniotic band syndrome. (3044042)
1988
22
Diprosopus, anencephaly, and facial clefting. (3189405)
1988
23
Anencephaly, other congenital malformations, and stillbirths. (3764773)
1986
24
Survival in infants with anencephaly. (6705433)
1984
25
Anencephaly: agent orange implications? (6827602)
1983
26
Zinc deficiency and anencephaly in Turkey. (7064110)
1982
27
The mode of development of an inherited form of anencephaly in the house mouse. (7242851)
1981
28
Anencephaly: an overview. (6930498)
1980
29
Brief communication: possible X-linked anencephaly and spina bifida--report of a kindred. (7004185)
1980
30
Anencephaly in Japan: paternal age, maternal age and birth order. (573095)
1979
31
Rapidly adhering cells in two cases of anencephaly. (730177)
1978
32
Comparison of alphafetoprotein and beta-trace protein in the antenatal diagnosis of anencephaly and spina bifida. (57018)
1976
33
Amniotic fluid alpha2-macroglobulin and the antenatal diagnosis of spina bifida and anencephaly. (52422)
1975
34
Anencephaly, spina bifida and dizygotic twinning: a review of the data of Stevenson et al. (1091145)
1975
35
Female excess in anencephaly and spina bifida: possible gestational influences. (1091146)
1975
36
Prostaglandin f-2-alpha for the induction of labor in pregnancies complicated by intra-uterine death, anencephaly and chromosomal anomaly. (4847513)
1974
37
Early diagnosis of anencephaly. (4120657)
1973
38
Anencephaly and water supply--a study of the problem in Glasgow. (4738100)
1973
39
Birth control, sex-ratio, and anencephaly. (4117426)
1972
40
Is anencephaly a single entity? A brief note on the morphologic heterogeneity of anencephaly. (5173383)
1971
41
Anencephaly. (4925833)
1971
42
Anencephaly in Shiraz, Iran. (4099244)
1971
43
Neuroschisis and human embryonic maldevelopment. New evidence on anencephaly, spina bifida and diverse mammalian defects. (4985177)
1970
44
Social factors in the incidence of spinal bifida and anencephaly. (4916232)
1970
45
Radiologic seminar C: roentgen diagnosis of anencephaly in utero. (4918458)
1970
46
The human hypophysis in anencephaly. I. Ultrastructure of the pars distalis. (5763625)
1969
47
Acute folic acid deficiency of pregnancy associated with oral ulceration and anencephaly. (5810307)
1969
48
Anencephaly--a five year survey in Cork. (5809833)
1969
49
Vertebral and other abnormalities in parents and sibs of cases of spina bifida cystica and of anencephaly. (4896353)
1968
50
Anencephaly and spina bifida. (4885920)
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 pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.6MTHFR, MTR
2
Show member pathways
9.3MTHFR, MTRR
39.1MTR, MTRR
4
Show member pathways
9.1MTR, MTRR
5
Show member pathways
9.1MTR, MTRR
6
Show member pathways
8.8MTHFR, MTR, MTRR
7
Show member pathways
8.8MTHFR, MTR, MTRR

GO Terms for genes affiliated with Anencephaly

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1methionine metabolic processGO:00065559.9MTHFR, MTRR
2SMAD protein signal transductionGO:00603959.8AFP, T
3methionine biosynthetic processGO:00090869.8MTR, MTRR
4Wnt signaling pathway, planar cell polarity pathwayGO:00600719.8PRICKLE1, VANGL2
5post-anal tail morphogenesisGO:00363429.6T, VANGL2
6sulfur amino acid metabolic processGO:00000969.5MTR, MTRR
7anterior/posterior pattern specificationGO:00099529.4T, VANGL2
8cobalamin metabolic processGO:00092359.4MTR, MTRR
9methylationGO:00322599.1MTR, MTRR
10neural tube closureGO:00018439.0PRICKLE1, T, VANGL2
11folic acid metabolic processGO:00466559.0MTHFR, MTRR

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

idNameGO IDScoreTop Affiliating Genes
1NADP bindingGO:00506619.3MTHFR, MTRR
2flavin adenine dinucleotide bindingGO:00506609.0MTHFR, MTRR

Sources for Anencephaly

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet