ACC
MCID: CRP032
MIFTS: 49

Corpus Callosum, Agenesis of (ACC)

Categories: Eye diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Corpus Callosum, Agenesis of

MalaCards integrated aliases for Corpus Callosum, Agenesis of:

Name: Corpus Callosum, Agenesis of 57 29 6
Corpus Callosum Agenesis 74 20 54
Isolated Corpus Callosum Agenesis 20 58
Agenesis of the Corpus Callosum 20 53
Non Rare in Europe: Isolated Corpus Callosum Agenesis 20
Acc 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive


HPO:

31
corpus callosum, agenesis of:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Corpus Callosum, Agenesis of

NINDS : 53 Agenesis of the corpus callosum (ACC) is one of several disorders of the corpus callosum, the structure that connects the two hemispheres (left and right) of the brain. In ACC the corpus callosum is partially or completely absent.  It is caused by a disruption of brain cell migration during fetal development. ACC can occur as an isolated condition or in combination with other cerebral abnormalities, including Arnold-Chiari malformation, Dandy-Walker syndrome, schizencephaly (clefts or deep divisions in brain tissue), and holoprosencephaly (failure of the forebrain to divide into lobes.) Girls may have a gender-specific condition called Aicardi syndrome, which causes severe cognitive impairment and developmental delays, seizures, abnormalities in the vertebra of the spine, and lesions on the retina of the eye. ACC can also be associated with malformations in other parts of the body, such as midline facial defects. The effects of the disorder range from subtle or mild to severe, depending on associated brain abnormalities. Children with the most severe brain malformations may have intellectual impairment, seizures, hydrocephalus, and spasticity.  Other disorders of the corpus callosum include dysgenesis, in which the corpus callosum is developed in a malformed or incomplete way, and hypoplasia, in which the corpus callosum is thinner than usual.  Individuals with these disorders have a higher risk of hearing deficits and cardiac abnormalities than individuals with the normal structure. Impairments in social interaction and communication in individuals having a disorder of the corpus callosum may overlap with autism spectrum disorder behaviors.  It is estimated that at least one in 4,000 individuals has a disorder of the corpus callosum.

MalaCards based summary : Corpus Callosum, Agenesis of, also known as corpus callosum agenesis, is related to agenesis of corpus callosum, cardiac, ocular, and genital syndrome and coffin-siris syndrome 1. An important gene associated with Corpus Callosum, Agenesis of is CDH2 (Cadherin 2). Affiliated tissues include brain, eye and retina, and related phenotypes are macrocephaly and intellectual disability

GARD : 20 Corpus callosum agenesis is a birth defect in which the structure that connects the two sides of the brain (the corpus callosum) is partially or completely absent. This birth defect can occur as an isolated condition or combined with other cerebral abnormalities, including Arnold-Chiari malformation, Dandy-Walker syndrome, schizencephaly (clefts or deep divisions in brain tissue), and holoprosencephaly (failure of the forebrain to divide into lobes.) It may also occur as part of other diseases such as Aicardi syndrome, (which only affect girls, includes corpus callosum agenesis, and other problems) or Andermann syndrome or it can also be associated with malformations in other parts of the body, such as midline facial defects. Symptoms are vary from person to person. Many people with agenesis of the corpus callosum do not have any symptoms or the symptoms may range from subtle or mild to severe, depending on whether and which associated brain abnormalities are present. The exact cause is still unknown. Treatment usually involves management of symptoms and seizures if they occur.

OMIM® : 57 The corpus callosum is the largest fiber tract in the central nervous system and the major interhemispheric fiber bundle in the brain. Formation of the corpus callosum begins as early as 6 weeks' gestation, with the first fibers crossing the midline at 11 to 12 weeks' gestation, and completion of the basic shape by age 18 to 20 weeks (Schell-Apacik et al., 2008). Agenesis of the corpus callosum (ACC) is one of the most frequent malformations in brain with a reported incidence ranging between 0.5 and 70 in 10,000 births. ACC is a clinically and genetically heterogeneous condition, which can be observed either as an isolated condition or as a manifestation in the context of a congenital syndrome (see MOLECULAR GENETICS and Dobyns, 1996). Also see mirror movements-1 and/or agenesis of the corpus callosum (MRMV1; 157600). Schell-Apacik et al. (2008) noted that there is confusion in the literature regarding radiologic terminology concerning partial absence of the corpus callosum, where various designations have been used, including hypogenesis, hypoplasia, partial agenesis, or dysgenesis. (217990) (Updated 05-Mar-2021)

Wikipedia : 74 Agenesis of the corpus callosum (ACC) is a rare birth defect in which there is a complete or partial... more...

Related Diseases for Corpus Callosum, Agenesis of

Diseases related to Corpus Callosum, Agenesis of via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 617)
# Related Disease Score Top Affiliating Genes
1 agenesis of corpus callosum, cardiac, ocular, and genital syndrome 31.7 DHX16 CDH2 AUTS2
2 coffin-siris syndrome 1 29.7 AUTS2 ARID1B ADNP
3 seizure disorder 29.6 DHX16 BORCS5 ADNP
4 hydrocephalus, congenital, 1 29.4 SETD2 MED12 KIF4A FZD3
5 alacrima, achalasia, and mental retardation syndrome 29.3 MED12 DHX16 BCL11A AUTS2 ARID1B ADNP
6 autism 29.3 SETD2 MED12 AUTS2 ARID1B ADNP
7 multicystic dysplastic kidney 29.1 KIF4A FZD3
8 microcephaly 28.9 TUBA1A MED12 KIF4A BORCS5 BCL11A AUTS2
9 autism spectrum disorder 28.7 SLC12A6 SETD2 DCC AUTS2 ARID1B ADNP
10 arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum 12.0
11 mirror movements 1 11.8
12 corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia 11.7
13 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome 11.7
14 chudley-mccullough syndrome 11.6
15 opitz-kaveggia syndrome 11.6
16 ben ari shuper mimouni syndrome 11.6
17 masa syndrome 11.6
18 temtamy syndrome 11.5
19 corpus callosum, agenesis of, with abnormal genitalia 11.5
20 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 11.5
21 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 11.5
22 agenesis of the corpus callosum and congenital lymphedema 11.5
23 sakoda complex 11.5
24 aplasia cutis congenita, nonsyndromic 11.5
25 corpus callosum, agenesis of, with facial anomalies and robin sequence 11.5
26 agenesis of the corpus callosum with peripheral neuropathy 11.5
27 aicardi syndrome 11.5
28 x-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis 11.4
29 ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum 11.4
30 kozlowski ouvrier syndrome 11.4
31 saal bulas syndrome 11.4
32 thrombocytopenia robin sequence 11.4
33 curry-jones syndrome 11.4
34 acrocallosal syndrome 11.4
35 calloso-genital dysplasia 11.4
36 duker weiss siber syndrome 11.4
37 spondylometaphyseal dysplasia, sedaghatian type 11.4
38 neu-laxova syndrome 1 11.4
39 linear skin defects with multiple congenital anomalies 1 11.4
40 fumarase deficiency 11.4
41 microphthalmia, syndromic 5 11.4
42 microcephaly, growth deficiency, seizures, and brain malformations 11.4
43 brain abnormalities, neurodegeneration, and dysosteosclerosis 11.4
44 weiss-kruszka syndrome 11.4
45 genitourinary and/or brain malformation syndrome 11.4
46 corpus callosum agenesis of blepharophimosis robin type 11.4
47 microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome 11.3
48 combined oxidative phosphorylation deficiency 2 11.3
49 bone dysplasia corpus callosum agenesis 11.3
50 diaphragmatic hernia exomphalos corpus callosum agenesis 11.3

Graphical network of the top 20 diseases related to Corpus Callosum, Agenesis of:



Diseases related to Corpus Callosum, Agenesis of

Symptoms & Phenotypes for Corpus Callosum, Agenesis of

Human phenotypes related to Corpus Callosum, Agenesis of:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 HP:0000256
2 intellectual disability 31 HP:0001249
3 agenesis of corpus callosum 31 HP:0001274
4 frontal bossing 31 HP:0002007
5 microcephaly 31 HP:0000252
6 prominent forehead 31 HP:0011220
7 growth delay 31 HP:0001510
8 preauricular skin tag 31 HP:0000384
9 camptodactyly 31 HP:0012385
10 joint contracture of the hand 31 HP:0009473

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
H E E N T:
macrocephaly
microcephaly
prominent forehead
preauricular skin tag
mental retardation
more
Limbs:
camptodactyly

Misc:
recurrent bronchopneumonia
death under 3 years

Neuro:
agenesis of corpus callosum

Growth:
retardation

Clinical features from OMIM®:

217990 (Updated 05-Mar-2021)

GenomeRNAi Phenotypes related to Corpus Callosum, Agenesis of according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased Nanog expression GR00371-A-1 9.23 SETD2
2 Increased Nanog expression GR00371-A-2 9.23 SETD2
3 Increased Nanog expression GR00371-A-4 9.23 BCL11A SETD2
4 Increased Nanog expression GR00371-A-5 9.23 ADNP BCL11A MED12 SETD2

MGI Mouse Phenotypes related to Corpus Callosum, Agenesis of:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.7 ADNP AUTS2 CDH2 DHX16 FZD3 MED12
2 mortality/aging MP:0010768 9.65 ADNP ARID1B AUTS2 BCL11A CDH2 DCC
3 nervous system MP:0003631 9.36 ADNP ARID1B AUTS2 BCL11A CDH2 DCC

Drugs & Therapeutics for Corpus Callosum, Agenesis of

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 BECOME CHILDREN OF HOLDERS Corpus Callosum Agenesis Screened IN PERIOD Antenatal Unknown status NCT02826824
2 Human Epilepsy Genetics--Neuronal Migration Disorders Study Unknown status NCT00041600
3 Corpus Callosum Agenesis and Intellectual Disability: Genetic and Phenotypic Characterization Completed NCT02167568
4 Whole Exome Sequencing in Prenatal Diagnosis of Agenesis of the Corpus Callosum Completed NCT03600792
5 Outcome of Infants With Prenatal Corpus Callosum Agenesis Active, not recruiting NCT02267161

Search NIH Clinical Center for Corpus Callosum, Agenesis of

Genetic Tests for Corpus Callosum, Agenesis of

Genetic tests related to Corpus Callosum, Agenesis of:

# Genetic test Affiliating Genes
1 Corpus Callosum, Agenesis of 29

Anatomical Context for Corpus Callosum, Agenesis of

MalaCards organs/tissues related to Corpus Callosum, Agenesis of:

40
Brain, Eye, Retina, Skin, Pituitary, Cortex, Fetal Brain

Publications for Corpus Callosum, Agenesis of

Articles related to Corpus Callosum, Agenesis of:

(show top 50) (show all 345)
# Title Authors PMID Year
1
Exome sequencing identifies recessive CDK5RAP2 variants in patients with isolated agenesis of corpus callosum. 57
26197979 2016
2
Identification of genomic loci contributing to agenesis of the corpus callosum. 57
20683985 2010
3
Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients. 57
18792984 2008
4
Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25. 57
9863602 1998
5
Agenesis of corpus callosum in three sibs. 57
9560954 1997
6
Agenesis of the corpus callosum in a mother and son. 57
9056551 1997
7
Absence makes the search grow longer. 57
8554070 1996
8
Delineation of the da-Silva syndrome. 57
8209892 1994
9
Callosal defect, microcephaly, severe mental retardation, and other anomalies in three sibs. 57
3400727 1988
10
Agenesis of the corpus callosum and macrocephaly in siblings. 57
3905089 1985
11
Familial agenesis of the corpus callosum with hypothermia and apneic spells. 57
6738818 1984
12
Agenesis of the corpus callosum. 57
7387492 1980
13
Agenesis of the corpus callosum in two sisters. 57
4204338 1973
14
Agenesis of the corpus callosum; a report of two cases in siblings. 57
14397896 1955
15
[Epileptogenic brain malformations: radiological and clinical presentation and indications for genetic testing]. 61 54
18808783 2008
16
Genetic malformations of cortical development. 61 54
16724181 2006
17
Neuronal migration disorders, genetics, and epileptogenesis. 54 61
15921228 2005
18
An unusual ophthalmic presentation of Wolf-Hirschhorn syndrome. 61
33599186 2021
19
Accuracy of prenatal ultrasound in the diagnosis of corpus callosum anomalies. 61
31035852 2021
20
Neurodevelopmental Outcomes following Prenatal Diagnosis of Isolated Corpus Callosum Agenesis: A Systematic Review. 61
33517337 2021
21
Effect of corpus callosum agenesis on the language network in children and adolescents. 61
33496825 2021
22
Large Congenital Facial Teratoma Associated With Neurological Migration Disorder (Polymicrogyria) and Absent Corpus Callosum. 61
32833811 2021
23
X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant. 61
33415589 2021
24
Role of prenatal magnetic resonance imaging in fetuses with isolated agenesis of corpus callosum in the era of fetal neurosonography: A systematic review and meta-analysis. 61
32652537 2021
25
Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities. 61
33159882 2020
26
Coinheritance of novel mutations in NAGLU causing mucopolysaccharidosis type IIIB and in DDHD2 causing spastic paraplegia54 in a Turkish family. 61
33246910 2020
27
Clinical Outcome of Children With Corpus Callosum Agenesis. 61
32911263 2020
28
Klinefelter Syndrome and Corpus Callosum Agenesis. 61
32385782 2020
29
Vici syndrome with pathogenic homozygous EPG5 gene mutation: A case report and literature review. 61
33120733 2020
30
3D facial morphometry in Italian patients affected by Aicardi syndrome. 61
32798292 2020
31
Corpus Callosum Agenesis: An Insight into the Etiology and Spectrum of Symptoms. 61
32916978 2020
32
Cancer treatment in disabled children. 61
32140854 2020
33
Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co-inheritance. 61
32519823 2020
34
Improved prognostication in isolated callosal agenesis: fetal magnetic resonance imaging-based scoring system. 61
32484578 2020
35
Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes. 61
32591344 2020
36
Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation. 61
32022998 2020
37
Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability. 61
32439809 2020
38
De Novo ARID1B mutations cause growth delay associated with aberrant Wnt/β-catenin signaling. 61
31981384 2020
39
MT1-MMP deficiency leads to defective ependymal cell maturation, impaired ciliogenesis, and hydrocephalus. 61
32229724 2020
40
Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity. 61
32415109 2020
41
PAK3 mutations responsible for severe intellectual disability and callosal agenesis inhibit cell migration. 61
31843706 2020
42
Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder. 61
31793730 2020
43
Radiological Findings on Structural Magnetic Resonance Imaging in Fetal Alcohol Spectrum Disorders and Healthy Controls. 61
31840819 2020
44
Congenital meningocele associated with corpus callosum agenesis and midline superior labial cleft due to Tessier 0-14 facial fissure: A case report. 61
31706112 2020
45
TUBB Variants Underlying Different Phenotypes Result in Altered Vesicle Trafficking and Microtubule Dynamics. 61
32085672 2020
46
Nasal fistula, epidermal cyst and hypernatremia in a girl presenting holoprosencephaly due to a rare ZIC2 point mutation. 61
30894326 2020
47
A Japanese Patient with Genitopatellar Syndrome Transiently Presenting with Cardiac Intramural Cavity during the Neonatal Period. 61
32908725 2020
48
Integration Between Cerebral Hemispheres Contributes to Defense Mechanisms. 61
32733338 2020
49
A rare case of primary coenzyme Q10 deficiency due to COQ9 mutation. 61
31821167 2020
50
Two cases of Vici syndrome presenting with corpus callosum agenesis, albinism, and severe developmental delay. 61
32558422 2020

Variations for Corpus Callosum, Agenesis of

ClinVar genetic disease variations for Corpus Callosum, Agenesis of:

6 (show all 42)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ARID1B NM_020732.3(ARID1B):c.1612C>T (p.Gln538Ter) SNV Pathogenic 374179 rs1057518951 6:157150430-157150430 6:156829296-156829296
2 MED12 NM_005120.3(MED12):c.2881C>T (p.Arg961Trp) SNV Pathogenic 11520 rs80338758 X:70347217-70347217 X:71127367-71127367
3 DCC NM_005215.4(DCC):c.925del (p.Thr309fs) Deletion Pathogenic 375281 rs1057519053 18:50451680-50451680 18:52925310-52925310
4 DCC NM_005215.4(DCC):c.2260G>A (p.Val754Met) SNV Pathogenic 375286 rs775565634 18:50866178-50866178 18:53339808-53339808
5 DCC NM_005215.4(DCC):c.2414G>A (p.Gly805Glu) SNV Pathogenic 375283 rs1057519055 18:50912467-50912467 18:53386097-53386097
6 DCC NM_005215.4(DCC):c.2378T>G (p.Val793Gly) SNV Pathogenic 375282 rs1057519054 18:50912431-50912431 18:53386061-53386061
7 DCC NM_005215.4(DCC):c.1790G>C (p.Arg597Pro) SNV Pathogenic 375284 rs1057519056 18:50734116-50734116 18:53207746-53207746
8 DCC NM_005215.4(DCC):c.2677G>A (p.Ala893Thr) SNV Pathogenic 375287 rs1057519057 18:50918246-50918246 18:53391876-53391876
9 DCC NM_005215.4(DCC):c.2227A>T (p.Met743Leu) SNV Pathogenic 375285 rs199651452 18:50866145-50866145 18:53339775-53339775
10 DCC NM_005215.4(DCC):c.3649A>G (p.Met1217Val) SNV Pathogenic 375288 rs1057519058 18:50994293-50994293 18:53467923-53467923
11 TUBA1A NM_006009.4(TUBA1A):c.652G>A (p.Asp218Asn) SNV Pathogenic 372561 rs1057517858 12:49579497-49579497 12:49185714-49185714
12 TUBA1A NM_006009.4(TUBA1A):c.1226T>C (p.Val409Ala) SNV Pathogenic 208490 rs797045005 12:49578923-49578923 12:49185140-49185140
13 CDH2 NM_001792.5(CDH2):c.1057G>A (p.Asp353Asn) SNV Pathogenic 805758 rs1599017933 18:25573565-25573565 18:27993601-27993601
14 CDH2 NM_001792.5(CDH2):c.1789G>A (p.Asp597Asn) SNV Pathogenic 805759 rs1599011050 18:25565678-25565678 18:27985714-27985714
15 CDH2 NM_001792.5(CDH2):c.1789G>T (p.Asp597Tyr) SNV Pathogenic 805760 rs1599011050 18:25565678-25565678 18:27985714-27985714
16 CDH2 NM_001792.5(CDH2):c.1802A>C (p.Asn601Thr) SNV Pathogenic 805761 rs201775968 18:25565665-25565665 18:27985701-27985701
17 CDH2 NM_001792.5(CDH2):c.1839C>G (p.Cys613Trp) SNV Pathogenic 805762 rs754880999 18:25565628-25565628 18:27985664-27985664
18 CDH2 NM_001792.5(CDH2):c.1880A>G (p.Asp627Gly) SNV Pathogenic 805763 rs1599010918 18:25565587-25565587 18:27985623-27985623
19 CDH2 NM_001792.5(CDH2):c.2027A>G (p.Tyr676Cys) SNV Pathogenic 804251 rs199984052 18:25565146-25565146 18:27985182-27985182
20 CDH2 NM_001792.5(CDH2):c.2563_2564del (p.Leu855fs) Deletion Pathogenic 805764 rs1598982488 18:25532274-25532275 18:27952310-27952311
21 CDH2 NM_001792.5(CDH2):c.2564_2567dup (p.Leu856fs) Duplication Pathogenic 805765 rs1598982483 18:25532270-25532271 18:27952306-27952307
22 BCL11A NM_022893.4(BCL11A):c.295del (p.Val99fs) Deletion Pathogenic 632586 rs1558519119 2:60773196-60773196 2:60546061-60546061
23 SETD2 NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp) SNV Pathogenic 388568 rs1057523157 3:47129662-47129662 3:47088172-47088172
24 DCC NM_005215.4(DCC):c.823C>T (p.Arg275Ter) SNV Pathogenic 187796 rs754914260 18:50450202-50450202 18:52923832-52923832
25 CDH2 NM_001792.5(CDH2):c.1057G>A (p.Asp353Asn) SNV Likely pathogenic 805758 rs1599017933 18:25573565-25573565 18:27993601-27993601
26 AUTS2 NM_015570.4(AUTS2):c.1600A>C (p.Thr534Pro) SNV Likely pathogenic 632598 rs1563183469 7:70231231-70231231 7:70766245-70766245
27 TUBA1A NM_006009.4(TUBA1A):c.180G>T (p.Lys60Asn) SNV Likely pathogenic 632599 rs1565627707 12:49580440-49580440 12:49186657-49186657
28 KIF4A NM_012310.5(KIF4A):c.794G>T (p.Arg265Leu) SNV Likely pathogenic 632604 rs1569234334 X:69549270-69549270 X:70329420-70329420
29 TMLHE NM_018196.4(TMLHE):c.277C>T (p.Arg93Cys) SNV Likely pathogenic 632605 rs782785654 X:154754198-154754198 X:155524537-155524537
30 FZD3 NM_017412.4(FZD3):c.1616dup (p.Asp539fs) Duplication Likely pathogenic 632606 rs1563406024 8:28413316-28413317 8:28555799-28555800
31 DHX16 NM_003587.5(DHX16):c.1744T>A (p.Phe582Ile) SNV Likely pathogenic 691931 rs1582940678 6:30627820-30627820 6:30660043-30660043
32 CDK5RAP2 NM_018249.6(CDK5RAP2):c.280G>C (p.Gly94Arg) SNV Likely pathogenic 242598 rs752092703 9:123313096-123313096 9:120550818-120550818
33 ADNP NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter) SNV Likely pathogenic 279598 rs886041116 20:49509063-49509063 20:50892526-50892526
34 SLC12A6 NM_001365088.1(SLC12A6):c.752dup (p.Ser252fs) Duplication Likely pathogenic 523557 rs1555380716 15:34547586-34547587 15:34255385-34255386
35 BORCS5 NM_058169.6(BORCS5):c.203-1G>T SNV Likely pathogenic 242898 rs1555155556 12:12588561-12588561 12:12435627-12435627
36 MID1 NM_000381.4(MID1):c.1765A>G (p.Asn589Asp) SNV Uncertain significance 523364 rs1556001939 X:10417647-10417647 X:10449607-10449607
37 BCOR NM_001123385.2(BCOR):c.4693A>G (p.Thr1565Ala) SNV Uncertain significance 523408 rs1289349820 X:39914669-39914669 X:40055416-40055416
38 DYNC1H1 NM_001376.5(DYNC1H1):c.13047_13049GGA[1] (p.Glu4350del) Microsatellite Uncertain significance 523438 rs1555412533 14:102514194-102514196 14:102047857-102047859
39 EP300 NM_001429.4(EP300):c.2027G>C (p.Gly676Ala) SNV Uncertain significance 523442 rs1555908795 22:41537200-41537200 22:41141196-41141196
40 PIK3CA NM_006218.4(PIK3CA):c.742G>A (p.Gly248Ser) SNV Uncertain significance 523491 rs1553820694 3:178919257-178919257 3:179201469-179201469
41 C2CD3 NM_001286577.1(C2CD3):c.917T>C (p.Leu306Pro) SNV Uncertain significance 598992 rs762278054 11:73849803-73849803 11:74138758-74138758
42 ARMC9 NM_001352754.2(ARMC9):c.636G>C (p.Gln212His) SNV Uncertain significance 739322 rs201590882 2:232099950-232099950 2:231235237-231235237

Expression for Corpus Callosum, Agenesis of

Search GEO for disease gene expression data for Corpus Callosum, Agenesis of.

Pathways for Corpus Callosum, Agenesis of

GO Terms for Corpus Callosum, Agenesis of

Biological processes related to Corpus Callosum, Agenesis of according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuron migration GO:0001764 9.43 FZD3 DCC AUTS2
2 embryonic organ development GO:0048568 9.37 SETD2 MED12
3 neural tube closure GO:0001843 9.33 SETD2 MED12 FZD3
4 post-anal tail morphogenesis GO:0036342 9.32 MED12 FZD3
5 negative regulation of dendrite development GO:2000171 8.96 DCC BCL11A
6 negative regulation of collateral sprouting GO:0048671 8.62 DCC BCL11A

Sources for Corpus Callosum, Agenesis of

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....