MCID: ANN002
MIFTS: 46

Anencephaly malady

Categories: Rare diseases, Neuronal diseases

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 primary adrenal insufficiency, anencephaly and spina bifida. An important gene associated with Anencephaly is MTHFR (Methylenetetrahydrofolate Reductase (NAD(P)H)), and among its related pathways are One carbon pool by folate and Selenium Pathway. Affiliated tissues include brain, bone and skin, 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.

Wikipedia:68 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 387)
idRelated DiseaseScoreTop Affiliating Genes
1neural tube defects31.5AFP, MTHFR, MTR, VANGL1
2neural tube defects, folate-sensitive30.8MTHFR, MTR
3open iniencephaly30.4MTHFR, VANGL1
4closed iniencephaly30.4MTHFR, VANGL1
5lymphangioma29.7MTHFR, MTR
6omphalocele29.6MTHFR, VANGL1
7thyroid cancer29.5MTHFR, MTR
8xk aprosencephaly12.5
9isolated anencephaly/exencephaly12.4
10anencephaly and spina bifida x-linked12.4
11aprosencephaly cerebellar dysgenesis12.3
12encephalocele anencephaly12.3
13vangl1-related neural tube defect11.3
14acalvaria11.2
15craniorachischisis11.0
16iniencephaly11.0
17glioma10.5
18hydrolethalus syndrome 210.4
19encephalocele10.4
20ehrlichiosis10.3
21tinea pedis10.3
22congenital ichthyosiform erythroderma10.3
23hypersplenism10.3
24breast cancer10.3
25leukemia10.3
26melanoma10.3
27cerebellar agenesis10.3
28exencephaly10.3
29pancreatitis10.2
30swayback10.2AFP, MTHFR
31pontocerebellar hypoplasia10.2MTHFR, SIX3
32enthesopathy10.1MTHFR, SIX3
33heart cancer10.1AFP, MTHFR
34postcricoid region cancer10.1AFP, MTHFR
35hypopigmentation of eyelid10.1AFP, SIX3
36hepatocellular carcinoma10.1
37obesity10.1
38arthritis10.1
39hepatitis10.1
40lymphoma10.1
41retinitis10.1
42neuronitis10.1
43endotheliitis10.1
44schizencephaly10.1MTHFR, SIX3
45mixed cerebral palsy10.1AFP, SIX3
46homocystinuria due to mthfr deficiency10.1MTHFR, MTR
47cutaneous paget's disease10.1AFP, MTHFR
48cerebral folate receptor alpha deficiency10.1MTHFR, MTR
49homocystinuria due to cbs deficiency10.1MTHFR, MTR
50adult spinal cord glioblastoma multiforme10.1AFP, MTHFR

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 primary adrenal insufficiency hallmark (90%) HP:0008207
2 anencephaly hallmark (90%) HP:0002323
3 spina bifida HP:0002414
4 anencephaly HP:0002323

Drugs & Therapeutics for Anencephaly

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

(show all 9)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Folic Acidapproved, nutraceutical292459-30-36037
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 Complex2847
3Vitamins3857
4Trace Elements3900
5Micronutrients3901
6Hematinics1121
7Folinic AcidNutraceutical2604
8Vitamin B9Nutraceutical2924
9FolateNutraceutical2924

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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Anatomical Context for Anencephaly

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MalaCards organs/tissues related to Anencephaly:

33
Brain, Bone, Skin, Spinal cord, Breast, Endothelial, T cells

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 507)
idTitleAuthorsYear
1
Prevalence of unexpected leiomyosarcoma at myomectomy: a descriptive study. (26450408)
2015
2
Association study of interleukin-19 rs2243188 polymorphism with systemic lupus erythematosus in a Chinese population. (24819332)
2014
3
Teratoma presenting with trichoptysis. (25255462)
2014
4
Identification of a novel oligomerization disrupting mutation in CRYI9A associated with congenital cataract in a South Australian family. (23255486)
2013
5
Basal cell carcinoma arising in a bacille Calmette-GuAcrin vaccination scar. (22530332)
2012
6
Myocardial infarction and generalised anxiety disorder: 10-year follow-up. (22403086)
2012
7
Increased expression of importin13 in endometriosis and endometrial carcinoma. (22648251)
2012
8
Addison's disease presenting with acute kidney injury. (21117391)
2010
9
CARF Is a vital dual regulator of cellular senescence and apoptosis. (19001376)
2009
10
Blackwater fever: the rise and fall of an exotic disease. (20013744)
2009
11
Construction of expression plasmid for fused idiotypic DNA vaccine of B-cell lymphoma]. (20030925)
2009
12
Caveolin mediates rapid glucocorticoid effects and couples glucocorticoid action to the antiproliferative program. (18308897)
2008
13
Seat belt pyoderma gangrenosum: minor pressure as a causative factor. (18837131)
2008
14
Methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms and the risk of primary hepatocellular carcinoma (HCC) in a Chinese population. (17503006)
2007
15
Expression of heat shock proteins in myocardium of patients with atrial fibrillation. (17688193)
2007
16
HER2-positive breast cancer: current and future treatment strategies. (17547474)
2007
17
Apoptosis induced by protein phosphatase 2A (PP2A) inhibition in T leukemia cells is negatively regulated by PP2A-associated p38 mitogen-activated protein kinase. (16844342)
2007
18
Congenital absence of portal vein presenting as hepatopulmonary syndrome. (15670231)
2005
19
Dephosphorylation of CDK9 by protein phosphatase 2A and protein phosphatase-1 in Tat-activated HIV-1 transcription. (16048649)
2005
20
Mucocutaneous leishmaniasis: an imported infection among travellers to central and South America. (15472268)
2004
21
Bilateral absence of the patella in nail-patella syndrome: delayed presentation with anterior knee instability. (15483536)
2004
22
Protein S deficiency associated with progressive loss of vision and intracranial venous sinus thrombosis. (15648287)
2004
23
How long should patients be followed after molar pregnancy? Analysis of serum hCG follow-up data. (14687748)
2004
24
CDC91L1 (PIG-U) is a newly discovered oncogene in human bladder cancer. (15034568)
2004
25
The Golgi protein RCAS1 controls cell surface expression of tumor- associated O-linked glycan antigens. (12672804)
2003
26
Anti-glomerular basement membrane nephritis and bullous pemphigoid caused by distinct anti-alpha 3(IV)NC1 and anti-BP180 antibodies in a patient with Crohn's disease. (12200819)
2002
27
Hemophilia and related bleeding disorders: a story of dismay and success. (12446416)
2002
28
Functional identification of LZTS1 as a candidate prostate tumor suppressor gene on human chromosome 8p22. (11464283)
2001
29
Multiple inhibitor analysis of the brequinar and leflunomide binding sites on human dihydroorotate dehydrogenase. (11329288)
2001
30
Mutational analysis of the Smad6 and Smad7 genes in hepatocellular carcinoma. (11408948)
2001
31
Three-dimensional visualization of pulmonary thromboemboli in chronic thromboembolic pulmonary hypertension with multiple detector-row spiral computed tomography. (11413092)
2001
32
Leptin, neuropeptide Y, and peptide YY in long-term recovered eating disorder patients. (10418705)
1999
33
Cooperative binding and synergistic activation by RelA and C/EBPbeta on the intercellular adhesion molecule-1 promoter. (9831247)
1998
34
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. (9288113)
1997
35
Preparation of 188Re-RC-160 somatostatin analog: a peptide for local/regional radiotherapy. (9116651)
1997
36
Serum insulin and lipoprotein(a) concentrations. The Jichi Medical School Cohort Study. (9250447)
1997
37
HER-2/neu is rate-limiting for ovarian cancer growth. Conditional depletion of HER-2/neu by ribozyme targeting. (9368008)
1997
38
DNA repair domains within a human gene: selective repair of sequences near the transcription initiation site. (8599951)
1996
39
Inactivation of the petE gene for plastocyanin lowers photosynthetic capacity and exacerbates chilling-induced photoinhibition in the cyanobacterium Synechococcus. (8972599)
1996
40
Influence of nitric oxide synthase inhibition, nitric oxide and hydroperoxide on insulin release induced by various secretagogues. (7533613)
1995
41
Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism. (8634705)
1995
42
Reflex sympathetic dystrophy syndrome: a longitudinal study. (7812335)
1994
43
Sphenoid wing meningioma progression after placement of a subcutaneous progesterone agonist contraceptive implant. (8008172)
1994
44
Phase I trial of combined recombinant interleukin-2 with levamisole in patients with advanced malignant disease. (8048398)
1994
45
Diverticulosis of the main bronchi: a rare cause of recurrent bronchopneumonia in a child. (8493639)
1993
46
Gastrin secretion from human antral G cells in culture. (1971610)
1990
47
Encephalomalacia in the distribution of the posterior cerebral and superior cerebellar arteries: the CT and radionuclide examination. (6260502)
1981
48
Congenital ocular toxoplasmosis. Possible occurrence in siblings. (348171)
1978
49
Pycnodysostosis with splenomegaly and anemia. (5286691)
1971
50
Chronic Suppurative Otitis-Media with a Fistula of the External Semi-Circular Canal. (20315106)
1924

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
1vitamin metabolic processGO:00067669.2MTHFR, 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