ANPH
MCID: ANN002
MIFTS: 56

Anencephaly (ANPH)

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

Aliases & Classifications for Anencephaly

MalaCards integrated aliases for Anencephaly:

Name: Anencephaly 56 12 74 52 25 53 73 36 54 43 15 39 32
Anencephalus 25 73 29 6
Aprosencephaly 25 58 54
Anph 56 73
Absence of a Large Part of the Brain and the Skull 52
Isolated Anencephaly/exencephaly 58
Congenital Absence of Brain 25
Anencephalia 25

Characteristics:

Orphanet epidemiological data:

58
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:

56
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)


HPO:

31
anencephaly:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0060668
OMIM 56 206500
KEGG 36 H02120
MeSH 43 D000757
ICD10 32 00.0 Q00.0
ICD10 via Orphanet 33 Q00.0
MedGen 41 C0002902

Summaries for Anencephaly

NINDS : 53 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 isolated anencephaly and craniorachischisis. An important gene associated with Anencephaly is TRIM36 (Tripartite Motif Containing 36), and among its related pathways/superpathways are Metabolism of water-soluble vitamins and cofactors and One carbon pool by folate. The drugs Erenumab and Salmon calcitonin have been mentioned in the context of this disorder. Affiliated tissues include Neural Tube, brain and spinal cord, and related phenotypes are primary adrenal insufficiency and anencephaly

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 : 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. Because the neural tube fails to close properly, the developing brain and spinal cord are exposed to the amniotic fluid that surrounds the fetus in the womb. This exposure causes the nervous system tissue to break down (degenerate). As a result, people with anencephaly are missing large parts of the brain called the cerebrum and cerebellum. These brain regions are necessary for thinking, hearing, vision, emotion, and coordinating movement. The bones of the skull are also missing or incompletely formed. Because these nervous system abnormalities are so severe, almost all babies with anencephaly die before birth or within a few hours or days after birth.

NIH Rare Diseases : 52 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.

OMIM : 56 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)

KEGG : 36 Anencephaly is a congenital absence of a major portion of the brain, skull, and scalp. The primary abnormality is failure of cranial neurulation, the embryologic process that separates the precursors of the forebrain from amniotic fluid. Anencephaly shows a heterogeneous etiology, ranging from environmental to genetic causes. The autosomal recessive inheritance has been reported. Women with elevated levels of plasma homocysteine, low folate, or low vitamin B12 (cobalamin) are at an increased risk of having a child with neural tube defect (NTD). NTDs are the second most common type of birth defects and include anencephaly and open spina bifida [DS:H00262].

UniProtKB/Swiss-Prot : 73 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 : 74 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 219)
# Related Disease Score Top Affiliating Genes
1 isolated anencephaly 34.3 VANGL2 MTHFR
2 craniorachischisis 33.3 VANGL2 SCRIB DACT1 CELSR1
3 neural tube defects, folate-sensitive 32.4 MTRR MTR MTHFR MTHFD1
4 omphalocele 31.0 MTHFR MTHFD1 AFP
5 meningocele 30.9 VANGL1 CELSR1 AFP
6 neural tube defects 30.6 VANGL2 VANGL1 SLC25A32 SCRIB PRICKLE1 PARD3
7 placental abruption 30.6 MTRR MTHFR MTHFD1
8 spina bifida occulta 30.3 VANGL2 VANGL1 MTHFR MTHFD1
9 down syndrome 30.0 MTRR MTR MTHFR AFP
10 myelomeningocele 28.8 VANGL2 VANGL1 SLC25A32 SCRIB PRICKLE1 PARD3
11 anencephaly and spina bifida x-linked 12.4
12 aprosencephaly and cerebellar dysgenesis 12.4
13 encephalocele anencephaly 12.2
14 aprosencephaly/atelencephaly spectrum 12.2
15 iniencephaly 11.7
16 acalvaria 11.7
17 encephalocele 11.6
18 exencephaly 11.5
19 medeira-dennis-donnai syndrome 11.5
20 acrocallosal syndrome 11.5
21 schisis association 11.5
22 hydrolethalus syndrome 2 11.3
23 genitourinary and/or brain malformation syndrome 11.1
24 cerebellar agenesis 11.1
25 hyperthermia induced defects 11.1
26 isolated exencephaly 10.5 VANGL2 MTHFR
27 methylmalonic aciduria and homocystinuria type cblg 10.5 MTRR MTR
28 methylmalonic aciduria and homocystinuria type cble 10.5 MTRR MTR
29 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 10.5 MTR MTHFR
30 nondisjunction 10.5 MTRR MTHFR
31 tethered spinal cord syndrome 10.4 VANGL1 MTHFD1 AFP
32 polyhydramnios 10.4
33 choline deficiency disease 10.4 MTR MTHFR MTHFD1
34 brachydactyly, type b1 10.4 VANGL2 VANGL1 PRICKLE1
35 ocular motility disease 10.4 VANGL2 VANGL1 CELSR1
36 homocystinuria 10.4 MTRR MTR MTHFR
37 vitamin metabolic disorder 10.4 MTRR MTR MTHFR
38 vitamin b12 deficiency 10.4 MTRR MTR MTHFR
39 holoprosencephaly 10.4
40 chromosomal triplication 10.4
41 methylmalonic acidemia 10.4 MTRR MTR MTHFR
42 total spina bifida aperta 10.4 VANGL2 VANGL1 MTHFR MTHFD1
43 cervicothoracic spina bifida aperta 10.4 VANGL2 VANGL1 MTHFR MTHFD1
44 cervical spina bifida aperta 10.4 VANGL2 VANGL1 MTHFR MTHFD1
45 lumbosacral spina bifida aperta 10.4 VANGL2 VANGL1 MTHFR MTHFD1
46 thoracolumbosacral spina bifida aperta 10.4 VANGL2 VANGL1 MTHFR MTHFD1
47 upper thoracic spina bifida aperta 10.4 VANGL2 VANGL1 MTHFR MTHFD1
48 total spina bifida cystica 10.4 VANGL2 VANGL1 MTHFR MTHFD1
49 thoracolumbosacral spina bifida cystica 10.3 VANGL2 VANGL1 MTHFR MTHFD1
50 lumbosacral spina bifida cystica 10.3 VANGL2 VANGL1 MTHFR MTHFD1

Graphical network of the top 20 diseases related to Anencephaly:



Diseases related to Anencephaly

Symptoms & Phenotypes for Anencephaly

Human phenotypes related to Anencephaly:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 primary adrenal insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0008207
2 anencephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002323
3 spina bifida 31 HP:0002414

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
anencephaly
neural tube defect
rachischisis

Clinical features from OMIM:

206500

MGI Mouse Phenotypes related to Anencephaly:

45 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 10.39 CELSR1 DACT1 DHFR FOLR1 FOXN1 KIF7
2 growth/size/body region MP:0005378 10.37 CELSR1 DACT1 DHFR FOLR1 FOXN1 KIF7
3 mortality/aging MP:0010768 10.36 AFP CELSR1 DACT1 DHFR FOLR1 FOXN1
4 cardiovascular system MP:0005385 10.29 DACT1 DHFR FOLR1 FOXN1 KIF7 MTHFD1
5 nervous system MP:0003631 10.24 CELSR1 DACT1 FOLR1 FOXN1 KIF7 MARCKSL1
6 limbs/digits/tail MP:0005371 10.17 CELSR1 DACT1 FOLR1 KIF7 MTHFD1 MTHFR
7 craniofacial MP:0005382 10.14 CELSR1 FOLR1 KIF7 PRICKLE1 SCRIB SIX3
8 digestive/alimentary MP:0005381 10.07 DACT1 FOLR1 KIF7 PRICKLE1 SCRIB SIX3
9 integument MP:0010771 10.06 CELSR1 DHFR FOLR1 FOXN1 MTHFR PARD3
10 hearing/vestibular/ear MP:0005377 10.02 CELSR1 FOLR1 FOXN1 PRICKLE1 SCRIB VANGL1
11 reproductive system MP:0005389 10 AFP CELSR1 DACT1 FOLR1 FOXN1 KIF7
12 no phenotypic analysis MP:0003012 9.87 DACT1 KIF7 MTHFR PARD3 PRICKLE1 SCRIB
13 respiratory system MP:0005388 9.7 CELSR1 KIF7 PRICKLE1 SCRIB SIX3 VANGL1
14 skeleton MP:0005390 9.65 CELSR1 DACT1 FOXN1 KIF7 MTHFR PRICKLE1
15 vision/eye MP:0005391 9.36 CELSR1 FOLR1 FOXN1 KIF7 MARCKSL1 MTHFR

Drugs & Therapeutics for Anencephaly

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

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Erenumab Approved, Investigational Phase 2 1582205-90-0
2
Salmon calcitonin Approved, Investigational Phase 2 47931-85-1 16129616
3
Calcitonin gene-related peptide Investigational Phase 2 83652-28-2
4 Analgesics Phase 2
5 Katacalcin Phase 2
6 calcitonin Phase 2
7
Capsaicin Approved Phase 1 404-86-4 1548943
8 Pharmaceutical Solutions Phase 1
9 Dermatologic Agents Phase 1
10
leucovorin Approved 58-05-9 6006 143
11
Triamcinolone Approved, Vet_approved 124-94-7 31307
12
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
13 Micronutrients
14 Trace Elements
15 Hematinics
16 Nutrients
17 Vitamins
18 Vitamin B Complex
19 Folate
20 Vitamin B9
21 triamcinolone acetonide
22 Triamcinolone diacetate
23 Triamcinolone hexacetonide

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Erenumab For Treatment of Hemicrania Continua Not yet recruiting NCT04303845 Phase 2 Erenumab
2 The Pain Biomarker Study: Changes in Circulating Pain Signalling Molecules With Activation of Pain Receptors Active, not recruiting NCT03511846 Phase 1 Oral capsaicin;Topical capsaicin;Intranasal capsaicin;Low Flow Oxygen;High Flow Oxygen
3 The Spina Bifida Research Resource Unknown status NCT00031122
4 Genetics of Neural Tubes Defects Unknown status NCT01253746
5 Incidence of Pregnancies and Births With Spina Bifida in Denmark in 2008-2014 Unknown status NCT02685813
6 The Hereditary Basis of Neural Tube Defects Completed NCT00636233
7 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
8 Dosage Effects of Folic Acid on Blood Folates of Honduran Women Completed NCT00207532 folic acid
9 The Will Erwin Headache Research Center Study of Cluster Headache and Trigeminal Neuralgia Recruiting NCT02910323
10 Knowledge and Follow-up of Vitamin B9 Supplementation Recommendations for Women in the Periconceptional Period to Prevent Neural Tube Closure Defects: a Study Conducted With Health Professionnals and Women Who Have Just Given Birth in Rennes CHU. Recruiting NCT04195542

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 Anencephalus 29 TRIM36

Anatomical Context for Anencephaly

MalaCards organs/tissues related to Anencephaly:

40
Brain, Spinal Cord, Bone, Skin, Cerebellum, Testes, Lung
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 2233)
# Title Authors PMID Year
1
A homozygous mutation in TRIM36 causes autosomal recessive anencephaly in an Indian family. 61 56 6
28087737 2017
2
Major gene is responsible for anencephaly among Iranian Jews. 56 61
7747793 1995
3
Evidence for a major gene in familial anencephaly. 61 56
2333913 1990
4
Anencephaly: a vanishing problem in Bedouins? 56 61
2769728 1989
5
Nonsyndromal anencephaly: possible autosomal recessive variant. 61 56
3728564 1986
6
Anencephaly with diaphragmatic hernia in sibs. 61 56
458835 1979
7
Apparently monogenic inheritance of anencephaly and spina bifida in a kindred. 61 56
4939953 1971
8
Anencephaly in three siblings. 56 61
5813221 1969
9
Genetics of anencephaly and spina bifida? 61 56
4175169 1968
10
Thrice recurring anencephalus. 56 61
13956214 1963
11
Empiric risk, genetic counseling and preventive measures in anencephaly. 61 56
13933484 1962
12
Anencephaly in a mono-amniotic twin. 61 56
14037284 1961
13
Repeat anencephaly. 56 61
13573288 1958
14
Anencephaly in four consecutive pregnancies; report of a case. 56 61
13501272 1958
15
Genetics of anencephaly. 61 56
13491996 1957
16
ANENCEPHALY IN IDENTICAL TWINS. 56 61
20319161 1933
17
Prenatal folic acid treatment suppresses acrania and meroanencephaly in mice mutant for the Cart1 homeobox gene. 56
8673125 1996
18
Hereditary disorders among Iranian Jews. 56
7573153 1995
19
Cartilage homeoprotein 1, a homeoprotein selectively expressed in chondrocytes. 56
7690966 1993
20
Monozygotic anencephalic twins. 56
13836518 1960
21
Anencephalic twins with rupture of the uterus. 56
13002872 1952
22
Neural tube defects in the sample of genetic counselling. 54 61
17602445 2007
23
Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions. 54 61
17035141 2006
24
Amniotic fluid homocysteine levels, 5,10-methylenetetrahydrafolate reductase genotypes, and neural tube closure sites. 54 61
10602110 2000
25
Unconjugated estriol as an indication for prenatal diagnosis of steroid sulfatase deficiency by in situ hybridization. 54 61
9764665 1998
26
Open neural tube defects: immunocytochemical demonstration of neuroepithelial cells in amniotic fluid. 61 54
9067106 1997
27
5,10 Methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defects. 61 54
8826441 1996
28
[The alpha-fetoprotein level analysis in open neural tube defects and chromosomal aberrations in the fetus]. 54 61
8657351 1996
29
Scanning gel densitometry of amniotic fluid acetylcholinesterase and butyrylcholinesterase: quantification of 'faint-positive' bands in fetal malformations. 54 61
7647148 1995
30
[Contents of alpha-fetoprotein in the blood of pregnant women as a criterion of the presence of congenital heart defects in the fetus]. 61 54
7485753 1995
31
A comparison of amniotic fluid alpha-fetoprotein and acetylcholinesterase in the prenatal diagnosis of open neural tube defects and anterior abdominal wall defects. 54 61
7681980 1993
32
High levels of maternal serum alpha-fetoprotein and human chorionic gonadotrophins leading to the diagnosis of combined neural tube defect and partial mole. 61 54
1377390 1992
33
Amniotic fluid hormone profiles during normal and abnormal pregnancy. 54 61
1280539 1992
34
Ratio of immunochemically determined amniotic fluid acetylcholinesterase to butyrylcholinesterase in the differential diagnosis of fetal abnormalities. 61 54
1705434 1991
35
Maternal serum alpha-fetoprotein screening for open neural tube defects in twin pregnancies. 54 61
1692997 1990
36
Birth prevalence of congenital anomalies in the City of Buenos Aires, Argentina, according to socioeconomic level. 61
31900751 2020
37
Prenatal detection of congenital anomalies and related factors in Argentina. 61
31900752 2020
38
WDR34 mutation from anencephaly patients impaired both SHH and PCP signaling pathways. 61
32576942 2020
39
The role of the "beret" sign and other markers in ultrasound diagnostic of the acrania-exencephaly-anencephaly sequence stages. 61
32556516 2020
40
Relative Prevalence and Outcome of Fetal Neural Tube Defect in a Developing Country. 61
32476765 2020
41
Maternal exposure to ambient particulate matter 10 μm or less in diameter before and after pregnancy, and anencephaly risk: A population-based case-control study in China. 61
32535358 2020
42
Prevalence of congenital malformations at the "les Orangers" maternity and reproductive health Hospital of Rabat: descriptive study of 470 anomalies. 61
32493258 2020
43
Presence of congenital anomalies in three dog litters. 61
32003081 2020
44
Neural tube defects in four Shetland sheepdog puppies: clinical characterisation and computed tomography investigation. 61
32319083 2020
45
Quantification of selection bias in studies of risk factors for birth defects among livebirths. 61
32249969 2020
46
Study of Lethal Congenital Malformations at a Tertiary-Care Referral Centre in North India. 61
32373406 2020
47
An Unusual First-Trimester Ultrasound Presentation of the Acrania-Anencephaly Sequence: The "Turkish Turban" Sign. 61
31705673 2020
48
Lower rates of neural tube defects in Israel following folic acid supplementation policy. 61
32220587 2020
49
Association between maternal periconceptional alcohol consumption and neural tube defects: Findings from the National Birth Defects Prevention Study, 1997-2011. 61
32104984 2020
50
Laboratory screening and diagnosis of open neural tube defects, 2019 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG). 61
31700163 2020

Variations for Anencephaly

ClinVar genetic disease variations for Anencephaly:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TRIM36 NM_001300759.2(TRIM36):c.1486C>A (p.Pro496Thr)SNV Pathogenic 431166 rs773607884 5:114469569-114469569 5:115133872-115133872

UniProtKB/Swiss-Prot genetic disease variations for Anencephaly:

73
# Symbol AA change Variation ID SNP ID
1 TRIM36 p.Asp518Asn VAR_079581

Expression for Anencephaly

Search GEO for disease gene expression data for Anencephaly.

Pathways for Anencephaly

Pathways related to Anencephaly according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.24 SLC25A32 MTRR MTR MTHFR MTHFD1 DHFR
2
Show member pathways
11.51 MTRR MTR MTHFR MTHFD1 DHFR
3
Show member pathways
11.43 MTRR MTR MTHFR MTHFD1 FOLR1 DHFR
4 10.92 MTHFR FOLR1 DHFR
5 10.69 MTRR MTR
6
Show member pathways
9.92 MTRR MTR

GO Terms for Anencephaly

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 10.12 VANGL2 VANGL1 SIX3 SCRIB FOXN1 DACT1
2 wound healing GO:0042060 9.79 VANGL2 SCRIB CELSR1
3 cellular amino acid biosynthetic process GO:0008652 9.71 MTRR MTR MTHFD1
4 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.71 VANGL2 VANGL1 PRICKLE1 CELSR1
5 hair follicle development GO:0001942 9.69 VANGL2 FOXN1 CELSR1
6 one-carbon metabolic process GO:0006730 9.67 MTHFR MTHFD1 DHFR
7 inner ear receptor cell stereocilium organization GO:0060122 9.63 VANGL2 SCRIB
8 cobalamin metabolic process GO:0009235 9.63 MTRR MTR
9 post-anal tail morphogenesis GO:0036342 9.62 VANGL2 SCRIB
10 establishment of planar polarity GO:0001736 9.62 VANGL2 CELSR1
11 apical protein localization GO:0045176 9.61 VANGL2 CELSR1
12 planar cell polarity pathway involved in neural tube closure GO:0090179 9.6 VANGL2 CELSR1
13 tetrahydrofolate interconversion GO:0035999 9.59 MTHFR MTHFD1
14 tetrahydrofolate metabolic process GO:0046653 9.58 MTHFR DHFR
15 homocysteine metabolic process GO:0050667 9.57 MTRR MTHFR
16 folic acid transport GO:0015884 9.56 SLC25A32 FOLR1
17 sulfur amino acid metabolic process GO:0000096 9.55 MTRR MTR
18 establishment or maintenance of epithelial cell apical/basal polarity GO:0045197 9.54 VANGL2 SCRIB PARD3
19 establishment of body hair planar orientation GO:0048105 9.52 VANGL2 CELSR1
20 axon regeneration GO:0031103 9.5 MTR FOLR1 DHFR
21 lateral sprouting involved in lung morphogenesis GO:0060490 9.48 VANGL2 CELSR1
22 planar dichotomous subdivision of terminal units involved in lung branching morphogenesis GO:0060489 9.46 VANGL2 CELSR1
23 methionine biosynthetic process GO:0009086 9.46 MTRR MTR MTHFR MTHFD1
24 orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis GO:0060488 9.43 VANGL2 CELSR1
25 methionine metabolic process GO:0006555 9.43 MTRR MTHFR MTHFD1
26 neural tube closure GO:0001843 9.43 VANGL2 SCRIB PRICKLE1 MTHFR MTHFD1 CELSR1
27 folic acid metabolic process GO:0046655 9.1 SLC25A32 MTRR MTHFR MTHFD1 FOLR1 DHFR

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

# Name GO ID Score Top Affiliating Genes
1 NADPH binding GO:0070402 9.26 MTRR DHFR
2 folic acid binding GO:0005542 9.16 FOLR1 DHFR
3 methotrexate binding GO:0051870 8.96 FOLR1 DHFR
4 NADP binding GO:0050661 8.8 MTRR MTHFR DHFR

Sources for Anencephaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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