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
SNOMED-CT via HPO 68 258211005 67531005 89369001

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 craniorachischisis and neural tube defects, folate-sensitive. 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 Wnt Signaling Pathways: beta-Catenin-dependent Wnt Signaling. The drugs Capsaicin and Dermatologic Agents have been mentioned in the context of this disorder. Affiliated tissues include Neural Tube, brain and spinal cord, and related phenotypes are anencephaly and primary adrenal insufficiency

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 215)
# Related Disease Score Top Affiliating Genes
1 craniorachischisis 33.6 VANGL2 SCRIB DACT1 CELSR1
2 neural tube defects, folate-sensitive 32.7 MTRR MTR MTHFR MTHFD1
3 neural tube defects 32.4 VANGL2 VANGL1 SCRIB PRICKLE1 PARD3 MTRR
4 meningocele 31.2 VANGL1 AFP
5 omphalocele 31.1 MTHFR MTHFD1 AFP
6 placental abruption 30.8 MTRR MTHFR MTHFD1
7 myelomeningocele 30.3 VANGL2 VANGL1 SCRIB PRICKLE1 PARD3 MTRR
8 down syndrome 30.3 MTRR MTR MTHFR AFP
9 spina bifida occulta 30.2 MTHFR MTHFD1
10 anencephaly and spina bifida x-linked 12.4
11 aprosencephaly and cerebellar dysgenesis 12.4
12 isolated anencephaly 12.3
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 cerebellar agenesis 11.1
24 hyperthermia induced defects 11.1
25 methylmalonic aciduria and homocystinuria type cblg 10.6 MTRR MTR
26 methylmalonic aciduria and homocystinuria type cble 10.6 MTRR MTR
27 tethered spinal cord syndrome 10.6 VANGL1 MTHFD1 AFP
28 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 10.6 MTR MTHFR
29 total spina bifida aperta 10.6 VANGL2 VANGL1 MTHFR MTHFD1
30 cervicothoracic spina bifida aperta 10.6 VANGL2 VANGL1 MTHFR MTHFD1
31 cervical spina bifida aperta 10.6 VANGL2 VANGL1 MTHFR MTHFD1
32 choline deficiency disease 10.6 MTR MTHFR MTHFD1
33 lumbosacral spina bifida aperta 10.6 VANGL2 VANGL1 MTHFR MTHFD1
34 thoracolumbosacral spina bifida aperta 10.6 VANGL2 VANGL1 MTHFR MTHFD1
35 upper thoracic spina bifida aperta 10.6 VANGL2 VANGL1 MTHFR MTHFD1
36 vitamin metabolic disorder 10.6 MTRR MTR MTHFR
37 total spina bifida cystica 10.6 VANGL2 VANGL1 MTHFR MTHFD1
38 thoracolumbosacral spina bifida cystica 10.6 VANGL2 VANGL1 MTHFR MTHFD1
39 lumbosacral spina bifida cystica 10.6 VANGL2 VANGL1 MTHFR MTHFD1
40 homocystinuria 10.6 MTRR MTR MTHFR
41 cervical spina bifida cystica 10.6 VANGL2 VANGL1 MTHFR MTHFD1
42 cervicothoracic spina bifida cystica 10.6 VANGL2 VANGL1 MTHFR MTHFD1
43 ocular motility disease 10.6 VANGL2 VANGL1 CELSR1
44 upper thoracic spina bifida cystica 10.6 VANGL2 VANGL1 MTHFR MTHFD1
45 choriocarcinoma of the testis 10.5 FOLR1 AFP
46 nondisjunction 10.5 MTRR MTHFR
47 brachydactyly, type b1 10.5 VANGL2 VANGL1 PRICKLE1 CELSR1
48 pediatric osteosarcoma 10.5 MTR MTHFR DHFR
49 methylmalonic acidemia 10.5 MTRR MTR MTHFR
50 methotrexate toxicity 10.5 MTRR MTR MTHFR DHFR

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 anencephaly 58 31 Very frequent (99-80%) HP:0002323
2 primary adrenal insufficiency 58 Very frequent (99-80%)
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 growth/size/body region MP:0005378 10.37 CELSR1 DACT1 DHFR FOLR1 FOXN1 KIF7
2 embryo MP:0005380 10.36 CELSR1 DACT1 DHFR FOLR1 FOXN1 KIF7
3 mortality/aging MP:0010768 10.33 AFP CELSR1 DACT1 DHFR FOLR1 FOXN1
4 cardiovascular system MP:0005385 10.29 DACT1 DHFR FOLR1 FOXN1 KIF7 MTHFD1
5 nervous system MP:0003631 10.21 CELSR1 DACT1 FOLR1 FOXN1 KIF7 MARCKSL1
6 limbs/digits/tail MP:0005371 10.17 CELSR1 DACT1 FOLR1 KIF7 MTHFD1 MTHFR
7 craniofacial MP:0005382 10.08 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 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Capsaicin Approved Phase 1 404-86-4 1548943
2 Dermatologic Agents Phase 1
3 Pharmaceutical Solutions Phase 1
4 Antipruritics Phase 1
5
leucovorin Approved 58-05-9 6006 143
6
Triamcinolone Approved, Vet_approved 124-94-7 31307
7
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
8 Trace Elements
9 Hematinics
10 Vitamins
11 Vitamin B Complex
12 Micronutrients
13 Vitamin B9
14 Nutrients
15 Folate
16 Triamcinolone diacetate
17 triamcinolone acetonide
18 Triamcinolone hexacetonide

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 The Spina Bifida Research Resource Unknown status NCT00031122
3 Genetics of Neural Tubes Defects Unknown status NCT01253746
4 Incidence of Pregnancies and Births With Spina Bifida in Denmark in 2008-2014 Unknown status NCT02685813
5 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
6 Dosage Effects of Folic Acid on Blood Folates of Honduran Women Completed NCT00207532 folic acid
7 The Will Erwin Headache Research Center Study of Cluster Headache and Trigeminal Neuralgia Recruiting NCT02910323
8 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
9 The Hereditary Basis of Neural Tube Defects 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 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 2212)
# Title Authors PMID Year
1
A homozygous mutation in TRIM36 causes autosomal recessive anencephaly in an Indian family. 6 56 61
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. 56 61
2333913 1990
4
Anencephaly: a vanishing problem in Bedouins? 61 56
2769728 1989
5
Nonsyndromal anencephaly: possible autosomal recessive variant. 56 61
3728564 1986
6
Anencephaly with diaphragmatic hernia in sibs. 56 61
458835 1979
7
Apparently monogenic inheritance of anencephaly and spina bifida in a kindred. 56 61
4939953 1971
8
Anencephaly in three siblings. 61 56
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. 56 61
13933484 1962
12
Anencephaly in a mono-amniotic twin. 61 56
14037284 1961
13
Repeat anencephaly. 61 56
13573288 1958
14
Anencephaly in four consecutive pregnancies; report of a case. 61 56
13501272 1958
15
Genetics of anencephaly. 56 61
13491996 1957
16
ANENCEPHALY IN IDENTICAL TWINS. 61 56
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. 61 54
17035141 2006
24
Amniotic fluid homocysteine levels, 5,10-methylenetetrahydrafolate reductase genotypes, and neural tube closure sites. 61 54
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. 61 54
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]. 54 61
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. 54 61
1377390 1992
33
Amniotic fluid hormone profiles during normal and abnormal pregnancy. 61 54
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. 61 54
1692997 1990
36
[Pre- and Postnatal Diagnosis of Congenital Central Nervous System Anomalies in Iceland in 1992-2016]. 61
31782746 2019
37
The search for genetic determinants of human neural tube defects. 61
31693581 2019
38
Exploring classification of birth defects severity in national hospital discharge databases compared to an active surveillance program. 61
31222957 2019
39
National population-based estimates for major birth defects, 2010-2014. 61
31580536 2019
40
An Unusual First-Trimester Ultrasound Presentation of the Acrania-Anencephaly Sequence: The "Turkish Turban" Sign. 61
31705673 2019
41
Study of Prostate Growth in Prune Belly Syndrome and Anencephalic Fetuses. 61
31708209 2019
42
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 2019
43
Cellular mechanisms underlying Pax3-related neural tube defects and their prevention by folic acid. 61
31636139 2019
44
Novel mouse model of encephalocele: post-neurulation origin and relationship to open neural tube defects. 61
31628096 2019
45
Concepts in the neurosurgical care of patients with spinal neural tube defects: An embryologic approach. 61
31576681 2019
46
High potential for reducing folic acid-preventable spina bifida and anencephaly, and related stillbirth and child mortality, in Ethiopia. 61
31424635 2019
47
Classifying by cause and preventing the many causes of spina bifida and anencephaly. 61
31683272 2019
48
Valproic acid effect on neural tube defects is not prevented by concomitant folic acid supplementation: Early chick embryo model pilot study. 61
31376429 2019
49
A case report of triple neural tube defect: revisiting the multisite closure theory. 61
31694612 2019
50
Autopsy Findings of Central Nervous System Anomalies in Intact Fetuses Following Termination of Pregnancy After Prenatal Ultrasound Diagnosis. 61
31256740 2019

Variations for Anencephaly

ClinVar genetic disease variations for Anencephaly:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TRIM36 NM_018700.4(TRIM36):c.1522C>A (p.Pro508Thr)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
12.33 MTRR MTR MTHFR MTHFD1 DHFR
2
Show member pathways
12.16 VANGL2 VANGL1 PRICKLE1 KIF7
3
Show member pathways
11.51 MTRR MTR MTHFR MTHFD1 DHFR
4
Show member pathways
11.43 MTRR MTR MTHFR MTHFD1 FOLR1 DHFR
5 10.82 MTHFR FOLR1 DHFR
6 10.73 MTRR MTR
7
Show member pathways
9.86 MTRR MTR

GO Terms for Anencephaly

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 10.09 VANGL2 VANGL1 SIX3 SCRIB FOXN1 DACT1
2 wound healing GO:0042060 9.77 VANGL2 SCRIB CELSR1
3 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.71 VANGL2 VANGL1 PRICKLE1 CELSR1
4 cellular amino acid biosynthetic process GO:0008652 9.7 MTRR MTR MTHFD1
5 hair follicle development GO:0001942 9.67 VANGL2 FOXN1 CELSR1
6 inner ear receptor cell stereocilium organization GO:0060122 9.63 VANGL2 SCRIB
7 one-carbon metabolic process GO:0006730 9.62 MTHFD1 DHFR
8 cobalamin metabolic process GO:0009235 9.62 MTRR MTR
9 post-anal tail morphogenesis GO:0036342 9.61 VANGL2 SCRIB
10 establishment of planar polarity GO:0001736 9.61 VANGL2 CELSR1
11 planar cell polarity pathway involved in neural tube closure GO:0090179 9.59 VANGL2 CELSR1
12 apical protein localization GO:0045176 9.58 VANGL2 CELSR1
13 tetrahydrofolate interconversion GO:0035999 9.58 MTHFR MTHFD1
14 tetrahydrofolate metabolic process GO:0046653 9.57 MTHFR DHFR
15 homocysteine metabolic process GO:0050667 9.56 MTRR MTHFR
16 sulfur amino acid metabolic process GO:0000096 9.54 MTRR MTR
17 establishment or maintenance of epithelial cell apical/basal polarity GO:0045197 9.54 VANGL2 SCRIB PARD3
18 establishment of body hair planar orientation GO:0048105 9.51 VANGL2 CELSR1
19 axon regeneration GO:0031103 9.5 MTR FOLR1 DHFR
20 lateral sprouting involved in lung morphogenesis GO:0060490 9.48 VANGL2 CELSR1
21 planar dichotomous subdivision of terminal units involved in lung branching morphogenesis GO:0060489 9.46 VANGL2 CELSR1
22 methionine biosynthetic process GO:0009086 9.46 MTRR MTR MTHFR MTHFD1
23 orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis GO:0060488 9.43 VANGL2 CELSR1
24 methionine metabolic process GO:0006555 9.43 MTRR MTHFR MTHFD1
25 neural tube closure GO:0001843 9.43 VANGL2 SCRIB PRICKLE1 MTHFR MTHFD1 CELSR1
26 folic acid metabolic process GO:0046655 9.02 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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