ACC
MCID: CRP032
MIFTS: 49

Corpus Callosum, Agenesis of (ACC)

Categories: 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 56
Corpus Callosum Agenesis 74 52 29 54 6
Isolated Corpus Callosum Agenesis 52 58
Agenesis of the Corpus Callosum 52 53
Agenesis of Corpus Callosum 29 39
Non Rare in Europe: Isolated Corpus Callosum Agenesis 52
Acc 56

Characteristics:

OMIM:

56
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 microcephaly and alacrima, achalasia, and mental retardation syndrome. An important gene associated with Corpus Callosum, Agenesis of is ADNP (Activity Dependent Neuroprotector Homeobox). Affiliated tissues include brain, heart and eye, and related phenotypes are macrocephaly and agenesis of corpus callosum

NIH Rare Diseases : 52 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 : 56 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)

Wikipedia : 74 Agenesis of the corpus callosum (ACC) is a rare birth defect (congenital disorder) in which there is a... 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 655)
# Related Disease Score Top Affiliating Genes
1 microcephaly 29.0 MED12 FRMD4A BCL11A ARX ARID1B
2 alacrima, achalasia, and mental retardation syndrome 28.8 MED12 DHX16 ARX
3 autism 28.1 SETD2 ARX ARID1B ADNP
4 arthrogryposis multiplex congenita, neurogenic, with agenesis of the corpus callosum 12.8
5 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome 12.7
6 agenesis of the corpus callosum and congenital lymphedema 12.7
7 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 12.7
8 ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum 12.7
9 corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia 12.7
10 corpus callosum, agenesis of, with abnormal genitalia 12.6
11 corpus callosum, agenesis of, with facial anomalies and robin sequence 12.5
12 x-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis 12.5
13 corpus callosum agenesis of blepharophimosis robin type 12.5
14 bone dysplasia corpus callosum agenesis 12.5
15 diaphragmatic hernia exomphalos corpus callosum agenesis 12.5
16 facial clefting corpus callosum agenesis 12.5
17 microcephaly-polymicrogyria-corpus callosum agenesis syndrome 12.5
18 syndrome with corpus callosum agenesis/dysgenesis as a major feature 12.5
19 genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature 12.5
20 obsolete: rare disease with corpus callosum agenesis associated with peripheral neuropathy 12.5
21 corpus callosum agenesis-macrocephaly-hypertelorism syndrome 12.5
22 partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome 12.5
23 mirror movements 1 12.4
24 opitz-kaveggia syndrome 12.2
25 agenesis of the corpus callosum with peripheral neuropathy 12.2
26 masa syndrome 12.1
27 chudley-mccullough syndrome 12.1
28 aplasia cutis congenita, nonsyndromic 12.0
29 adrenal cortical carcinoma 12.0
30 kozlowski ouvrier syndrome 11.8
31 saal bulas syndrome 11.8
32 thrombocytopenia robin sequence 11.8
33 ben ari shuper mimouni syndrome 11.8
34 adenoid cystic carcinoma 11.8
35 microphthalmia, syndromic 11 11.8
36 temtamy syndrome 11.8
37 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 11.7
38 adrenal carcinoma 11.7
39 sakoda complex 11.7
40 band heterotopia 11.7
41 opitz-gbbb syndrome 11.7
42 aicardi syndrome 11.6
43 acrocallosal syndrome 11.6
44 curry-jones syndrome 11.6
45 microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome 11.5
46 calloso-genital dysplasia 11.5
47 duker weiss siber syndrome 11.5
48 spondylometaphyseal dysplasia, sedaghatian type 11.5
49 neu-laxova syndrome 1 11.5
50 linear skin defects with multiple congenital anomalies 1 11.5

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 agenesis of corpus callosum 31 HP:0001274
3 frontal bossing 31 HP:0002007
4 intellectual disability 31 HP:0001249
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:

56
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

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.56 ADNP ARID1B ARX BCL11A DCC DHX16
2 nervous system MP:0003631 9.17 ADNP ARID1B ARX BCL11A DCC MED12

Drugs & Therapeutics for Corpus Callosum, Agenesis of

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Phase 1 Pilot Study of Bioengineered Penile Tissue Constructs in Subjects With Irreversibly Damaged Penile Corpora Not yet recruiting NCT03463239 Phase 1
2 BECOME CHILDREN OF HOLDERS Corpus Callosum Agenesis Screened IN PERIOD Antenatal Unknown status NCT02826824
3 Metabolic Screening in Patients With Donnai-Barrow Syndrome Unknown status NCT01509287
4 Human Epilepsy Genetics--Neuronal Migration Disorders Study Unknown status NCT00041600
5 Corpus Callosum Agenesis and Intellectual Disability: Genetic and Phenotypic Characterization Completed NCT02167568
6 Whole Exome Sequencing in Prenatal Diagnosis of Agenesis of the Corpus Callosum Recruiting NCT03600792
7 Frequency and Type of Genetic Abnormalities Found in Antenatal Corpus Callosum Malformation Recruiting NCT03680651
8 Disorders of Cerebral Development: A Phenotypic and Genetic Analysis Recruiting NCT00305305
9 Pathogenesis of Selected X-Linked Dominant Disorders and New Strategies to Identify the Gene Mutated in Aicardi Syndrome Recruiting NCT00697411
10 Genetic Analysis of Brain Disorders Recruiting NCT00645645
11 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 29
2 Agenesis of Corpus Callosum 29

Anatomical Context for Corpus Callosum, Agenesis of

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

40
Brain, Heart, Eye, Skin, Retina, Kidney, Liver

Publications for Corpus Callosum, Agenesis of

Articles related to Corpus Callosum, Agenesis of:

(show top 50) (show all 321)
# Title Authors PMID Year
1
Exome sequencing identifies recessive CDK5RAP2 variants in patients with isolated agenesis of corpus callosum. 56
26197979 2016
2
Identification of genomic loci contributing to agenesis of the corpus callosum. 56
20683985 2010
3
Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients. 56
18792984 2008
4
Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25. 56
9863602 1998
5
Agenesis of corpus callosum in three sibs. 56
9560954 1997
6
Agenesis of the corpus callosum in a mother and son. 56
9056551 1997
7
Absence makes the search grow longer. 56
8554070 1996
8
Delineation of the da-Silva syndrome. 56
8209892 1994
9
Callosal defect, microcephaly, severe mental retardation, and other anomalies in three sibs. 56
3400727 1988
10
Agenesis of the corpus callosum and macrocephaly in siblings. 56
3905089 1985
11
Familial agenesis of the corpus callosum with hypothermia and apneic spells. 56
6738818 1984
12
Agenesis of the corpus callosum. 56
7387492 1980
13
Agenesis of the corpus callosum in two sisters. 56
4204338 1973
14
Agenesis of the corpus callosum; a report of two cases in siblings. 56
14397896 1955
15
[Epileptogenic brain malformations: radiological and clinical presentation and indications for genetic testing]. 54 61
18808783 2008
16
Genetic malformations of cortical development. 54 61
16724181 2006
17
Neuronal migration disorders, genetics, and epileptogenesis. 54 61
15921228 2005
18
PAK3 mutations responsible for severe intellectual disability and callosal agenesis inhibit cell migration. 61
31843706 2020
19
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
20
Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation. 61
32022998 2020
21
De Novo ARID1B Mutations Cause Growth Delay Associated with Aberrant Wnt/β-Catenin Signaling. 61
31981384 2020
22
A rare case of primary coenzyme Q10 deficiency due to COQ9 mutation. 61
31821167 2020
23
Radiological Findings on Structural Magnetic Resonance Imaging in Fetal Alcohol Spectrum Disorders and Healthy Controls. 61
31840819 2019
24
Anterior and posterior commissures in agenesis of the corpus callosum: Alternative pathways for attention processes? 61
31731212 2019
25
Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder. 61
31793730 2019
26
Schizencephaly accompanied by occipital encephalocele and deletion of chromosome 22q13.32: a case report. 61
31130048 2019
27
Cervicothoracic Spinal Dysraphism: Unravelling the Pandora's Box. 61
31908661 2019
28
Intracranial cystic lesions and polydactyly associated with acrocallosal syndrome: Sonographic findings in two cases. 61
31318057 2019
29
De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects. 61
31585109 2019
30
Optic Nerve Hypoplasia, Corpus Callosum Agenesis, Cataract, and Lissencephaly in a Neonate with a NovelCOL4A1 Mutation. 61
31966034 2019
31
Mutations in SMARCB1 and in other Coffin-Siris syndrome genes lead to various brain midline defects. 61
31273213 2019
32
Corpus callosum agenesis with interhemispheric cyst: a neuroimage to remember. 61
31345835 2019
33
Corpus Callosum Agenesis: Neuroanatomical Model of Autism Spectrum Disorder? 61
31142933 2019
34
Accuracy of prenatal ultrasound in the diagnosis of corpus callosum anomalies. 61
31035852 2019
35
Nasal fistula, epidermal cyst and hypernatremia in a girl presenting holoprosencephaly due to a rare ZIC2 point mutation. 61
30894326 2019
36
Underdevelopment of the Human Hippocampus in Callosal Agenesis: An In Vivo Fetal MRI Study. 61
30792247 2019
37
Towards New Approaches to Evaluate Dynamic Mosaicism in Ring Chromosome 13 Syndrome. 61
31976095 2019
38
Corpus callosum agenesis and clinically isolated syndrome (CIS): A case report. 61
30472413 2019
39
FOXG1 Orchestrates Neocortical Organization and Cortico-Cortical Connections. 61
30392794 2018
40
Extending the ALDH18A1 clinical spectrum to severe autosomal recessive fetal cutis laxa with corpus callosum agenesis. 61
30244529 2018
41
Chronic Hyponatremia Due to the Syndrome of Inappropriate Antidiuresis (SIAD) in an Adult Woman with Corpus Callosum Agenesis (CCA). 61
30416193 2018
42
Congenital Hydrocephalus, Corpus Callosum Agenesis, and Prosencephalic Cyst with Supernumerary Nostril: A Neurocristopathy. 61
30459905 2018
43
Schizencephaly: A Review of 734 Patients. 61
30501885 2018
44
Transsphenoidal encephalocele, colpocephaly and corpus callosum agenesis in a midline cleft lip and palate patient: A very rare case. 61
30983739 2018
45
The third ventricle of the human fetal brain: Normative data and pathologic correlation. A 3D transvaginal neurosonography study. 61
29858521 2018
46
SCREENING OF PROP-1, LHX2 AND POU1F1 MUTATIONS IN PATIENTS WITH ECTOPIC POSTERIOR PITUITARY GLAND. 61
31149275 2018
47
Early asymmetric inter-hemispheric transfer in the auditory network: insights from infants with corpus callosum agenesis. 61
29687282 2018
48
Anesthetic Management in Corpus Callosum Agenesis. 61
30283190 2018
49
Homozygous TAF8 mutation in a patient with intellectual disability results in undetectable TAF8 protein, but preserved RNA polymerase II transcription. 61
29648665 2018
50
Is the presence of corpus callosum predictable in the first trimester? 61
29017365 2018

Variations for Corpus Callosum, Agenesis of

ClinVar genetic disease variations for Corpus Callosum, Agenesis of:

6 (show all 31) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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 DCC NM_005215.4(DCC):c.925del (p.Thr309fs)deletion Pathogenic 375281 rs1057519053 18:50451680-50451680 18:52925310-52925310
3 DCC NM_005215.4(DCC):c.1790G>C (p.Arg597Pro)SNV Pathogenic 375284 rs1057519056 18:50734116-50734116 18:53207746-53207746
4 DCC NM_005215.4(DCC):c.2227A>T (p.Met743Leu)SNV Pathogenic 375285 rs199651452 18:50866145-50866145 18:53339775-53339775
5 DCC NM_005215.4(DCC):c.2260G>A (p.Val754Met)SNV Pathogenic 375286 rs775565634 18:50866178-50866178 18:53339808-53339808
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.2414G>A (p.Gly805Glu)SNV Pathogenic 375283 rs1057519055 18:50912467-50912467 18:53386097-53386097
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.823C>T (p.Arg275Ter)SNV Pathogenic 187796 rs754914260 18:50450202-50450202 18:52923832-52923832
10 MED12 NM_005120.3(MED12):c.2881C>T (p.Arg961Trp)SNV Pathogenic 11520 rs80338758 X:70347217-70347217 X:71127367-71127367
11 ADNP NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter)SNV Pathogenic 279598 rs886041116 20:49509063-49509063 20:50892526-50892526
12 BCL11A NM_022893.4(BCL11A):c.295del (p.Val99fs)deletion Pathogenic 632586 rs1558519119 2:60773196-60773196 2:60546061-60546061
13 DHX16 NM_003587.5(DHX16):c.1744T>A (p.Phe582Ile)SNV Pathogenic/Likely pathogenic 691931 6:30627820-30627820 6:30660043-30660043
14 SETD2 NM_014159.6(SETD2):c.5218C>T (p.Arg1740Trp)SNV Pathogenic/Likely pathogenic 388568 rs1057523157 3:47129662-47129662 3:47088172-47088172
15 TUBA1A NM_006009.4(TUBA1A):c.652G>A (p.Asp218Asn)SNV Likely pathogenic 372561 rs1057517858 12:49579497-49579497 12:49185714-49185714
16 BORCS5 NM_058169.6(BORCS5):c.203-1G>TSNV Likely pathogenic 242898 rs1555155556 12:12588561-12588561 12:12435627-12435627
17 AUTS2 NM_015570.4(AUTS2):c.1600A>C (p.Thr534Pro)SNV Likely pathogenic 632598 rs1563183469 7:70231231-70231231 7:70766245-70766245
18 FZD3 NM_017412.4(FZD3):c.1616dup (p.Asp539fs)duplication Likely pathogenic 632606 rs1563406024 8:28413316-28413317 8:28555799-28555800
19 TUBA1A NM_006009.4(TUBA1A):c.180G>T (p.Lys60Asn)SNV Likely pathogenic 632599 rs1565627707 12:49580440-49580440 12:49186657-49186657
20 TMLHE NM_018196.4(TMLHE):c.277C>T (p.Arg93Cys)SNV Likely pathogenic 632605 rs782785654 X:154754198-154754198 X:155524537-155524537
21 KIF4A NM_012310.5(KIF4A):c.794G>T (p.Arg265Leu)SNV Likely pathogenic 632604 rs1569234334 X:69549270-69549270 X:70329420-70329420
22 SLC12A6 NM_001365088.1(SLC12A6):c.752dup (p.Ser252fs)duplication Likely pathogenic 523557 rs1555380716 15:34547586-34547587 15:34255385-34255386
23 EP300 NM_001429.4(EP300):c.2027G>C (p.Gly676Ala)SNV Uncertain significance 523442 rs1555908795 22:41537200-41537200 22:41141196-41141196
24 MID1 NM_033290.4(MID1):c.1765A>G (p.Asn589Asp)SNV Uncertain significance 523364 rs1556001939 X:10417647-10417647 X:10449607-10449607
25 BCOR NM_001123383.1(BCOR):c.4591A>G (p.Thr1531Ala)SNV Uncertain significance 523408 rs1289349820 X:39914669-39914669 X:40055416-40055416
26 C2CD3 NM_001286577.1(C2CD3):c.917T>C (p.Leu306Pro)SNV Uncertain significance 598992 rs762278054 11:73849803-73849803 11:74138758-74138758
27 46;XY;t(1;3)(p22;q21)dnTranslocation Uncertain significance 267862
28 PIK3CA NM_006218.4(PIK3CA):c.742G>A (p.Gly248Ser)SNV Uncertain significance 523491 rs1553820694 3:178919257-178919257 3:179201469-179201469
29 DYNC1H1 NM_001376.5(DYNC1H1):c.13047_13049GGA[1] (p.Glu4350del)short repeat Uncertain significance 523438 rs1555412533 14:102514194-102514196 14:102047857-102047859
30 DCC NM_005215.4(DCC):c.3649A>G (p.Met1217Val)SNV no interpretation for the single variant 375320 rs1057519058 18:50994293-50994293 18:53467923-53467923
31 DCC NM_005215.4(DCC):c.3748G>A (p.Ala1250Thr)SNV no interpretation for the single variant 375319 rs748112308 18:51013178-51013178 18:53486808-53486808

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 neural tube closure GO:0001843 9.26 SETD2 MED12
2 forebrain development GO:0030900 9.16 SETD2 ARX
3 embryonic organ development GO:0048568 8.96 SETD2 MED12
4 negative regulation of dendrite development GO:2000171 8.62 DCC BCL11A

Molecular functions related to Corpus Callosum, Agenesis of according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 8.8 MED12 ARX ADNP

Sources for Corpus Callosum, Agenesis of

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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