MCID: ANN002
MIFTS: 38

Anencephaly malady

Rare diseases, Neuronal diseases categories

Aliases & Classifications for Anencephaly

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Aliases & Descriptions for Anencephaly:

Name: Anencephaly 32 45 23 46 47
Aprosencephaly 23 47
Absence of a Large Part of the Brain and the Skull 45
 
Congenital Absence of Brain 23
Anencephalus 23
Anencephalia 23


Classifications:



External Ids:

ICD1027 Q00.0

Summaries for Anencephaly

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NIH Rare Diseases:45 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 and neural tube defects, folate-sensitive, and has symptoms including anencephaly, primary adrenal insufficiency and anencephaly. An important gene associated with Anencephaly is MTHFR (Methylenetetrahydrofolate Reductase (NAD(P)H)), and among its related pathways are Wnt / Hedgehog / Notch and One carbon pool by folate. Affiliated tissues include brain, bone and spinal cord, and related mouse phenotype mortality/aging.

Genetics Home Reference:23 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.

NINDS:46 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.

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 117)
idRelated DiseaseScoreTop Affiliating Genes
1neural tube defects30.3AFP, MTHFR, MTR, VANGL1
2neural tube defects, folate-sensitive30.2MTHFR, MTR
3open iniencephaly29.9MTHFR, VANGL1
4closed iniencephaly29.9MTHFR, VANGL1
5exencephaly10.4
6iniencephaly10.4
7isolated anencephaly/exencephaly10.4
8aprosencephaly cerebellar dysgenesis10.4
9craniorachischisis10.3
10encephalocele10.3
11anencephaly and spina bifida x-linked10.3
12polydactyly10.2
13omphalocele10.2
14encephalocele anencephaly10.2
15hydrolethalus syndrome 210.2
16meckel syndrome 110.2
17cleft lip10.2
18neuronitis10.2
19microcephaly10.2
20amniotic band syndrome10.2
21sirenomelia10.2
22hepatocellular adenoma10.1AFP, MTHFR
23placental abruption10.1
24hydrolethalus syndrome10.1
25acrocallosal syndrome10.1
26thoracoabdominal syndrome10.1
27holoprosencephaly10.1
28hydrocephalus10.1
29edwards syndrome10.1
30tethered spinal cord syndrome10.1
31myelomeningocele10.1
32cervicitis10.1
33congenital nervous system abnormality10.1
34acalvaria10.1
35diprosopia10.1
36medeira-dennis-donnai syndrome10.1
37schisis association10.1
38xk aprosencephaly10.1
39distal monosomy 13q10.1
40aminopterin/methotrexate embryofetopathy10.1
41endocarditis10.1MTHFR, SIX3
42glioblastoma mesenchymal subtype10.1MTHFR, SIX3
43disuse amblyopia10.1AFP, MTHFR
44cerebellar hypoplasia10.1
45rhombencephalosynapsis10.1
46placenta praevia10.1AFP, MTHFR
47venous insufficiency10.1AFP, MTHFR
48acute dacryocystitis10.1AFP, SIX3
49funisitis10.1AFP, SIX3
50homocystinuria due to mthfr deficiency10.1MTHFR, MTR

Graphical network of the top 20 diseases related to Anencephaly:



Diseases related to anencephaly

Symptoms for Anencephaly

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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 Acidapproved, nutraceutical285159-30-36037
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
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 Complex2775
3Vitamin B9Nutraceutical2851
4Folinic AcidNutraceutical2498
5FolateNutraceutical2851

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
5Study of Genetic Risk Factors for Spina Bifida and AnencephalyActive, not recruitingNCT00031122
6Incidence of Pregnancies and Births With Spina Bifida in Denmark in 2008-2014Not yet recruitingNCT02685813

Search NIH Clinical Center for Anencephaly

Genetic Tests for Anencephaly

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Anatomical Context for Anencephaly

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MalaCards organs/tissues related to Anencephaly:

33
Brain, Bone, Spinal cord, Skin, Thyroid, Lung, 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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107687.5AFP, MTHFR, MTR, SIX3, VANGL1

Publications for Anencephaly

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Articles related to Anencephaly:

(show top 50)    (show all 497)
idTitleAuthorsYear
1
Anencephaly and its associated malformations. (25386414)
2014
2
Parental occupational exposure to organic solvents and anencephaly in Mexico. (19737733)
2010
3
Postnatal in-vivo MRI findings in anencephaly. (21445817)
2010
4
Bio-monitoring the elimination of folic acid-preventable spina bifida and anencephaly. (18585451)
2008
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
Embryology of myelomeningocele and anencephaly. (15209484)
2004
7
Anencephaly: structural characterization of gangliosides in defined brain regions. (11308024)
2001
8
The diurnal rhythm in fetal heart rate in a twin pregnancy with discordant anencephaly: comparison with three normal twin pregnancies. (9131306)
1997
9
Anencephaly, dorsal hypermelia, and duplication of the vertebral column: a rare type of rachipagus conjoined twins. (8864167)
1996
10
Anencephaly with spinal dysraphism, cleft lip and palate and limb reduction defects. (7981865)
1994
11
Folic acid-preventable spina bifida and anencephaly. (8437310)
1993
12
Discordant anencephaly with a cleft lip and palate in a pergonal-induced triplet pregnancy. (1453300)
1992
13
Morphological evaluation for neuronal maturation in anencephaly and encephalocele in human neonates. A proposal of reclassification of cephalic dysraphism. (2257550)
1990
14
The infant with anencephaly. (2381454)
1990
15
Sonography of anencephaly: pitfalls in early diagnosis. (2506226)
1989
16
Epidemiology of anencephaly in Texas, 1981-1986. (2756489)
1989
17
Prenatal diagnosis of anencephaly: spectrum of sonographic appearances and distinction from the amniotic band syndrome. (3044042)
1988
18
Anencephaly, other congenital malformations, and stillbirths. (3764773)
1986
19
Investigation of a cluster of anencephaly and spina bifida. (6383023)
1984
20
Survival in infants with anencephaly. (6705433)
1984
21
The mode of development of an inherited form of anencephaly in the house mouse. (7242851)
1981
22
Differences between the events preceding spina bifida and anencephaly. (7019447)
1981
23
Concordance rates in twins for anencephaly. (7189785)
1980
24
Anencephaly, twins and HLA-B27. (7431364)
1980
25
Anencephaly: an overview. (6930498)
1980
26
Maternal hyperthermia and anencephaly. (76216)
1978
27
Evaluation of human placental lactogen (HPL) levels in anencephaly. (306506)
1978
28
Anencephaly in calves. (618715)
1978
29
Clomiphene, anencephaly, and spina bifida. (65688)
1977
30
Comparison of alphafetoprotein and beta-trace protein in the antenatal diagnosis of anencephaly and spina bifida. (57018)
1976
31
Amniotic fluid alpha2-macroglobulin and the antenatal diagnosis of spina bifida and anencephaly. (52422)
1975
32
Anencephaly, spina bifida and dizygotic twinning: a review of the data of Stevenson et al. (1091145)
1975
33
Female excess in anencephaly and spina bifida: possible gestational influences. (1091146)
1975
34
Hydrocephaly, microcephaly and anencephaly diagnosed in pregnancy by ultrasonic echography. (1196222)
1975
35
Prostaglandin f-2-alpha for the induction of labor in pregnancies complicated by intra-uterine death, anencephaly and chromosomal anomaly. (4847513)
1974
36
Early diagnosis of anencephaly. (4120657)
1973
37
Anencephaly and ovulation stimulation. (4122609)
1973
38
Anencephaly and potatoes in Chile. (4119420)
1973
39
Perinatal infections and epidemiology of anencephaly and spina bifida. (4358489)
1973
40
Birth control, sex-ratio, and anencephaly. (4117426)
1972
41
Is anencephaly a single entity? A brief note on the morphologic heterogeneity of anencephaly. (5173383)
1971
42
Anencephaly and spina bifida in Israel. (4926631)
1971
43
Unrecognised epidemic of anencephaly and spina bifida. (4102210)
1971
44
Neuroschisis and human embryonic maldevelopment. New evidence on anencephaly, spina bifida and diverse mammalian defects. (4985177)
1970
45
Social factors in the incidence of spinal bifida and anencephaly. (4916232)
1970
46
The human hypophysis in anencephaly. I. Ultrastructure of the pars distalis. (5763625)
1969
47
The recurrence risk in spina bifida cystica and anencephaly. (4905060)
1969
48
The human hypophysis in anencephaly. II. Ultrastructure of the pars intermedia. (5822055)
1969
49
Acute folic acid deficiency of pregnancy associated with oral ulceration and anencephaly. (5810307)
1969
50
Vertebral and other abnormalities in parents and sibs of cases of spina bifida cystica and of anencephaly. (4896353)
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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GO Terms for genes affiliated with Anencephaly

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

idNameGO IDScoreTop Affiliating Genes
1methionine biosynthetic processGO:00090869.4MTHFR, MTR
2water-soluble vitamin metabolic processGO:00067679.2MTHFR, MTR
3vitamin metabolic processGO:00067668.9MTHFR, MTR

Sources for Anencephaly

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet