Corpus Callosum, Agenesis of disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

ACC MCID: CRP032 MIFTS: 49	Corpus Callosum, Agenesis of (ACC) Categories: Eye diseases, Fetal diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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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:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁸

Rare neurological diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM® ⁵⁷ 217990

Orphanet ⁵⁸ ORPHA200

MedGen ⁴¹ C0175754

SNOMED-CT via HPO ⁶⁸ 228156007 247578003 258211005 more

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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...

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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:

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Symptoms & Phenotypes for Corpus Callosum, Agenesis of

Human phenotypes related to Corpus Callosum, Agenesis of:

³¹ (show all 10)

#	Description	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

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Drugs & Therapeutics for Corpus Callosum, Agenesis of

Interventional clinical trials:

#	Name	Status	NCT ID
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

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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

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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

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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	Jouan L...Rouleau GA	26197979	2016
2	Identification of genomic loci contributing to agenesis of the corpus callosum. ⁵⁷	O'Driscoll MC...Dobyns WB	20683985	2010
3	Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients. ⁵⁷	Schell-Apacik CC...von Voss H	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	Pirola B...Zuffardi O	9863602	1998
5	Agenesis of corpus callosum in three sibs. ⁵⁷	Naritomi K...Asato Y	9560954	1997
6	Agenesis of the corpus callosum in a mother and son. ⁵⁷	Inbar D...Shohat M	9056551	1997
7	Absence makes the search grow longer. ⁵⁷	Dobyns WB	8554070	1996
8	Delineation of the da-Silva syndrome. ⁵⁷	Naritomi K...Hirayama K	8209892	1994
9	Callosal defect, microcephaly, severe mental retardation, and other anomalies in three sibs. ⁵⁷	da-Silva EO	3400727	1988
10	Agenesis of the corpus callosum and macrocephaly in siblings. ⁵⁷	Young ID...Moore JR	3905089	1985
11	Familial agenesis of the corpus callosum with hypothermia and apneic spells. ⁵⁷	Pineda M...Ferrer I	6738818	1984
12	Agenesis of the corpus callosum. ⁵⁷	Lynn RB...Freemon FR	7387492	1980
13	Agenesis of the corpus callosum in two sisters. ⁵⁷	Shapira Y...Cohen T	4204338	1973
14	Agenesis of the corpus callosum; a report of two cases in siblings. ⁵⁷	NAIMAN J...FRASER FC	14397896	1955
15	[Epileptogenic brain malformations: radiological and clinical presentation and indications for genetic testing]. ⁶¹ ⁵⁴	Bahi-Buisson N...Chelly J	18808783	2008
16	Genetic malformations of cortical development. ⁶¹ ⁵⁴	Guerrini R...Marini C	16724181	2006
17	Neuronal migration disorders, genetics, and epileptogenesis. ⁵⁴ ⁶¹	Guerrini R...Filippi T	15921228	2005
18	An unusual ophthalmic presentation of Wolf-Hirschhorn syndrome. ⁶¹	Celik G...Toptan HH	33599186	2021
19	Accuracy of prenatal ultrasound in the diagnosis of corpus callosum anomalies. ⁶¹	Santirocco M...Carreras E	31035852	2021
20	Neurodevelopmental Outcomes following Prenatal Diagnosis of Isolated Corpus Callosum Agenesis: A Systematic Review. ⁶¹	Bernardes da Cunha S...Pina C	33517337	2021
21	Effect of corpus callosum agenesis on the language network in children and adolescents. ⁶¹	Bartha-Doering L...Kasprian G	33496825	2021
22	Large Congenital Facial Teratoma Associated With Neurological Migration Disorder (Polymicrogyria) and Absent Corpus Callosum. ⁶¹	Kelemen N...Liddington MI	32833811	2021
23	X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant. ⁶¹	Bousquet I...Putoux A	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	Sileo FG...D'Antonio F	32652537	2021
25	Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities. ⁶¹	Schneeberger PE...Kutsche K	33159882	2020
26	Coinheritance of novel mutations in NAGLU causing mucopolysaccharidosis type IIIB and in DDHD2 causing spastic paraplegia54 in a Turkish family. ⁶¹	Gun Bilgic D...Cam FS	33246910	2020
27	Clinical Outcome of Children With Corpus Callosum Agenesis. ⁶¹	Raile V...Kaindl AM	32911263	2020
28	Klinefelter Syndrome and Corpus Callosum Agenesis. ⁶¹	Sharawat IK...Panda PK	32385782	2020
29	Vici syndrome with pathogenic homozygous EPG5 gene mutation: A case report and literature review. ⁶¹	Abidi KT...Alharbi A	33120733	2020
30	3D facial morphometry in Italian patients affected by Aicardi syndrome. ⁶¹	Masnada S...Italian Aicardi Study Group	32798292	2020
31	Corpus Callosum Agenesis: An Insight into the Etiology and Spectrum of Symptoms. ⁶¹	Hofman J...Paprocka J	32916978	2020
32	Cancer treatment in disabled children. ⁶¹	Meazza C...Massimino M	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	Traversa A...Caputo V	32519823	2020
34	Improved prognostication in isolated callosal agenesis: fetal magnetic resonance imaging-based scoring system. ⁶¹	Cardoso Diogo M...Kasprian G	32484578	2020
35	Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes. ⁶¹	Baas M...Galjaard RJH	32591344	2020
36	Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation. ⁶¹	Acosta-Fernandez E...Corona-Rivera JR	32022998	2020
37	Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability. ⁶¹	Rasheed A...Schaffer A	32439809	2020
38	De Novo ARID1B mutations cause growth delay associated with aberrant Wnt/β-catenin signaling. ⁶¹	Liu X...Yu Y	31981384	2020
39	MT1-MMP deficiency leads to defective ependymal cell maturation, impaired ciliogenesis, and hydrocephalus. ⁶¹	Jiang Z...Zhou Z	32229724	2020
40	Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity. ⁶¹	Asselin L...Godin JD	32415109	2020
41	PAK3 mutations responsible for severe intellectual disability and callosal agenesis inhibit cell migration. ⁶¹	Duarte K...Barnier JV	31843706	2020
42	Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder. ⁶¹	Tessarech M...Colin E	31793730	2020
43	Radiological Findings on Structural Magnetic Resonance Imaging in Fetal Alcohol Spectrum Disorders and Healthy Controls. ⁶¹	Treit S...Emery D	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	Fandino A...De Leon O	31706112	2020
45	TUBB Variants Underlying Different Phenotypes Result in Altered Vesicle Trafficking and Microtubule Dynamics. ⁶¹	Sferra A...Zanni G	32085672	2020
46	Nasal fistula, epidermal cyst and hypernatremia in a girl presenting holoprosencephaly due to a rare ZIC2 point mutation. ⁶¹	de Almeida IG...Machado Rosa RF	30894326	2020
47	A Japanese Patient with Genitopatellar Syndrome Transiently Presenting with Cardiac Intramural Cavity during the Neonatal Period. ⁶¹	Takahashi K...Takahashi T	32908725	2020
48	Integration Between Cerebral Hemispheres Contributes to Defense Mechanisms. ⁶¹	Paradiso S...Paul LK	32733338	2020
49	A rare case of primary coenzyme Q10 deficiency due to COQ9 mutation. ⁶¹	Olgac A...Ezgu FS	31821167	2020
50	Two cases of Vici syndrome presenting with corpus callosum agenesis, albinism, and severe developmental delay. ⁶¹	Hizal M...Coskun T	32558422	2020

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Genes for Corpus Callosum, Agenesis of

Genes related to Corpus Callosum, Agenesis of (7 elite genes):

(show all 14)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	CDH2	Cadherin 2	Protein Coding	433.48	Pathogenic ⁶ Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)
2	TUBA1A	Tubulin Alpha 1a	Protein Coding	432.93	Pathogenic ⁶ Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)
3	DCC	DCC Netrin 1 Receptor	Protein Coding	408.42	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)
4	ARID1B	AT-Rich Interaction Domain 1B	Protein Coding	407.38	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)
5	BCL11A	BAF Chromatin Remodeling Complex Subunit BCL11A	Protein Coding	407.38	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)
6	MED12	Mediator Complex Subunit 12	Protein Coding	407.38	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)
7	SETD2	SET Domain Containing 2, Histone Lysine Methyltransferase	Protein Coding	407.38	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)
8	ADNP	Activity Dependent Neuroprotector Homeobox	Protein Coding	32.38	Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)
9	AUTS2	Activator Of Transcription And Developmental Regulator AUTS2	Protein Coding	32.38	Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)
10	BORCS5	BLOC-1 Related Complex Subunit 5	Protein Coding	32.38	Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)
11	DHX16	DEAH-Box Helicase 16	Protein Coding	32.38	Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)
12	FZD3	Frizzled Class Receptor 3	Protein Coding	32.38	Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)
13	KIF4A	Kinesin Family Member 4A	Protein Coding	32.38	Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)
14	SLC12A6	Solute Carrier Family 12 Member 6	Protein Coding	32.38	Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)

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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

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Expression for Corpus Callosum, Agenesis of

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

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Pathways for Corpus Callosum, Agenesis of

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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

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⁷⁴ Wikipedia

Corpus Callosum, Agenesis of (ACC)

Aliases & Classifications for Corpus Callosum, Agenesis of

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