ACCPX
MCID: CRP035
MIFTS: 33

Corpus Callosum, Partial Agenesis of, X-Linked (ACCPX)

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

Aliases & Classifications for Corpus Callosum, Partial Agenesis of, X-Linked

MalaCards integrated aliases for Corpus Callosum, Partial Agenesis of, X-Linked:

Name: Corpus Callosum, Partial Agenesis of, X-Linked 58 30 6
Partial Agenesis of the Corpus Callosum 30 6
Corpus Callosum, Partial Agenesis of 58 13
Agenesis of the Corpus Callosum, X-Linked, Partial 76
X-Linked Complicated Corpus Callosum Dysgenesis 60
Agenesis, Corpus Callosum, Partial, X-Linked 41
Partial Agenesis of Corpus Callosum 77
Accpx 76

Characteristics:

Orphanet epidemiological data:

60
x-linked complicated corpus callosum dysgenesis
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

58
Inheritance:
x-linked recessive


HPO:

33
corpus callosum, partial agenesis of, x-linked:
Inheritance x-linked inheritance x-linked recessive inheritance


Classifications:



Summaries for Corpus Callosum, Partial Agenesis of, X-Linked

UniProtKB/Swiss-Prot : 76 Agenesis of the corpus callosum, X-linked, partial: A syndrome characterized by partial corpus callosum agenesis, hypoplasia of inferior vermis and cerebellum, mental retardation, seizures and spasticity. Other features include microcephaly, unusual facies, and Hirschsprung disease in some patients.

MalaCards based summary : Corpus Callosum, Partial Agenesis of, X-Linked, also known as partial agenesis of the corpus callosum, is related to chudley-mccullough syndrome and opitz-kaveggia syndrome. An important gene associated with Corpus Callosum, Partial Agenesis of, X-Linked is L1CAM (L1 Cell Adhesion Molecule). Affiliated tissues include brain, cerebellum and heart, and related phenotypes are intellectual disability and seizures

Wikipedia : 77 Agenesis of the corpus callosum (ACC) is a rare birth defect (congenital disorder) in which there is a... more...

Description from OMIM: 304100

Related Diseases for Corpus Callosum, Partial Agenesis of, X-Linked

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

(show all 46)
# Related Disease Score Top Affiliating Genes
1 chudley-mccullough syndrome 11.7
2 opitz-kaveggia syndrome 11.6
3 x-linked complicated corpus callosum agenesis 11.5
4 structural heart defects and renal anomalies syndrome 11.3
5 agenesis of the corpus callosum with peripheral neuropathy 11.3
6 curry-jones syndrome 11.3
7 microcephaly, growth deficiency, seizures, and brain malformations 11.3
8 grubben de cock borghgraef syndrome 11.3
9 infantile spasms broad thumbs 11.3
10 neural tube defects 10.2
11 myelomeningocele 10.2
12 epilepsy 10.2
13 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.2
14 schizophrenia 10.1
15 septooptic dysplasia 10.1
16 thanatophoric dysplasia, type i 10.1
17 down syndrome 10.1
18 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.1
19 hydrocephalus, congenital, 1 10.1
20 sacral defect with anterior meningocele 10.1
21 neural tube defects, folate-sensitive 10.1
22 epilepsy, idiopathic generalized 10 10.1
23 alacrima, achalasia, and mental retardation syndrome 10.1
24 roifman syndrome 10.1
25 west syndrome 10.1
26 holoprosencephaly 10.1
27 hydrocephalus 10.1
28 left ventricular noncompaction 10.1
29 early myoclonic encephalopathy 10.1
30 microcephaly 10.1
31 alien hand syndrome 10.1
32 arachnoid cysts 10.1
33 chromosomal triplication 10.1
34 pachygyria 10.1
35 hypotonia 10.1
36 lobar holoprosencephaly 10.1
37 acrocephalopolysyndactyly type iii 10.1
38 aplasia cutis congenita, nonsyndromic 10.1
39 acrocallosal syndrome 10.1
40 cerebellar hypoplasia 10.1
41 hypoparathyroidism-retardation-dysmorphism syndrome 10.1
42 schizencephaly 10.1
43 leopard syndrome 10.1
44 noonan syndrome with multiple lentigines 10.1
45 colpocephaly 10.1
46 ring chromosome 6 10.1

Graphical network of the top 20 diseases related to Corpus Callosum, Partial Agenesis of, X-Linked:



Diseases related to Corpus Callosum, Partial Agenesis of, X-Linked

Symptoms & Phenotypes for Corpus Callosum, Partial Agenesis of, X-Linked

Human phenotypes related to Corpus Callosum, Partial Agenesis of, X-Linked:

60 33 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
2 seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0001250
3 spasticity 60 33 frequent (33%) Frequent (79-30%) HP:0001257
4 muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0001324
5 microcephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000252
6 cerebellar hypoplasia 60 33 frequent (33%) Frequent (79-30%) HP:0001321
7 aganglionic megacolon 60 33 occasional (7.5%) Occasional (29-5%) HP:0002251
8 hydrocephalus 33 HP:0000238
9 abnormal facial shape 33 HP:0001999
10 partial agenesis of the corpus callosum 33 HP:0001338
11 inferior vermis hypoplasia 33 HP:0007068

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
hydrocephalus
microcephaly

Abdomen Gastrointestinal:
hirschsprung disease

Muscle Soft Tissue:
arm weakness

Neurologic Central Nervous System:
seizures
spasticity
cerebellar hypoplasia
partial agenesis of the corpus callosum
inferior vermis hypoplasia
more
Head And Neck Face:
unusual facies

Clinical features from OMIM:

304100

Drugs & Therapeutics for Corpus Callosum, Partial Agenesis of, X-Linked

Search Clinical Trials , NIH Clinical Center for Corpus Callosum, Partial Agenesis of, X-Linked

Genetic Tests for Corpus Callosum, Partial Agenesis of, X-Linked

Genetic tests related to Corpus Callosum, Partial Agenesis of, X-Linked:

# Genetic test Affiliating Genes
1 Corpus Callosum, Partial Agenesis of, X-Linked 30 L1CAM
2 Partial Agenesis of the Corpus Callosum 30

Anatomical Context for Corpus Callosum, Partial Agenesis of, X-Linked

MalaCards organs/tissues related to Corpus Callosum, Partial Agenesis of, X-Linked:

42
Brain, Cerebellum, Heart, Tongue

Publications for Corpus Callosum, Partial Agenesis of, X-Linked

Articles related to Corpus Callosum, Partial Agenesis of, X-Linked:

(show all 30)
# Title Authors Year
1
Neuropsychiatric Manifestations of Partial Agenesis of the Corpus Callosum: A Case Report and Literature Review. ( 31019828 )
2019
2
Abnormal shape of the cavum septi pellucidi: an indirect sign of partial agenesis of the corpus callosum. ( 25586942 )
2015
3
Monozygotic twins with trisomy 21 and partial agenesis of the corpus callosum. ( 23498567 )
2013
4
Gelastic epilepsy in combination with hypothalamic hamartoma and partial agenesis of the corpus callosum: A case report and review of the literature. ( 24255688 )
2013
5
Partial agenesis of the corpus callosum, hippocampal atrophy, and stable intellectual disability associated with Roifman syndrome. ( 21910238 )
2011
6
Caudal Regression Syndrome with Partial Agenesis of the Corpus callosum and Partial Lobar Holoprosencephaly: Case report. ( 21509087 )
2010
7
Possible new syndrome: Left ventricular noncompaction, partial agenesis of the corpus callosum, and developmental delay in a Brazilian child. ( 19396836 )
2009
8
Partial agenesis of the corpus callosum in spina bifida meningomyelocele and potential compensatory mechanisms. ( 19052950 )
2009
9
Variability of homotopic and heterotopic callosal connectivity in partial agenesis of the corpus callosum: a 3T diffusion tensor imaging and Q-ball tractography study. ( 19001538 )
2009
10
First-episode 'coenesthetic' schizophrenia presenting with alien hand syndrome and partial agenesis of the corpus callosum. ( 18997478 )
2008
11
Partial agenesis of the corpus callosum in a patient with juvenile myoclonic epilepsy. ( 18077235 )
2007
12
Characteristics, associations and outcome of partial agenesis of the corpus callosum in the fetus. ( 16619387 )
2006
13
Expanding the phenotypic spectrum of L1CAM-associated disease. ( 16650080 )
2006
14
Extreme microcephaly with agyria-pachygyria, partial agenesis of the corpus callosum, and pontocerebellar dysplasia. ( 15794192 )
2005
15
Prenatal diagnosis of partial agenesis of the corpus callosum in a fetus with thanatophoric dysplasia type 2. ( 12001196 )
2002
16
Partial agenesis of the corpus callosum with partial seizures and bilateral congenital lacrimal duct atresia. ( 11195027 )
2001
17
Problems with interhemispheric transfer of information in complete or partial agenesis of the corpus callosum. ( 11944741 )
2001
18
Bilateral sensorineural deafness, partial agenesis of the corpus callosum, and arachnoid cysts in two sisters. ( 10449658 )
1999
19
Interhemispheric transfer of visual, auditory, tactile, and visuomotor information in children with hydrocephalus and partial agenesis of the corpus callosum. ( 10649538 )
1999
20
Possible new autosomal recessive syndrome of partial agenesis of the corpus callosum, pontine hypoplasia, focal white matter changes, hypotonia, mental retardation, and minor anomalies. ( 9409870 )
1997
21
Antenatal ultrasonographic findings differentiating complete from partial agenesis of the corpus callosum. ( 8633659 )
1996
22
Five novel mutations in the L1CAM gene in families with X linked hydrocephalus. ( 8929944 )
1996
23
Psychosis in Apert's syndrome with partial agenesis of the corpus callosum. ( 7647085 )
1995
24
Infantile spasms in a patient with septo-optic dysplasia, partial agenesis of the corpus callosum and an interhemispheric cyst. ( 1324816 )
1992
25
Antenatal diagnosis of partial agenesis of the corpus callosum: a benign cause of ventriculomegaly. ( 3293448 )
1988
26
Brain malformation associated with neural tube defects. Report of three cases of partial agenesis of the corpus callosum and myelomeningocele. ( 3440881 )
1987
27
Pattern-evoked cortical potentials and nuclear magnetic resonance imaging in total and partial agenesis of the corpus callosum. ( 4053962 )
1985
28
Interhemispheric cyst of neuroepithelial origin in association with partial agenesis of the corpus callosum. Case report and review of the literature. ( 7359196 )
1980
29
Partial agenesis of the corpus callosum simulating a neoplasm. Case report. ( 4538455 )
1972
30
HEREDITARY PARTIAL AGENESIS OF THE CORPUS CALLOSUM. BIOCHEMICAL AND HISTOLOGICAL STUDIES. ( 14272241 )
1963

Variations for Corpus Callosum, Partial Agenesis of, X-Linked

UniProtKB/Swiss-Prot genetic disease variations for Corpus Callosum, Partial Agenesis of, X-Linked:

76
# Symbol AA change Variation ID SNP ID
1 L1CAM p.Pro240Leu VAR_003928 rs137852526

ClinVar genetic disease variations for Corpus Callosum, Partial Agenesis of, X-Linked:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 L1CAM NM_000425.4(L1CAM): c.719C> T (p.Pro240Leu) single nucleotide variant Pathogenic rs137852526 GRCh37 Chromosome X, 153135930: 153135930
2 L1CAM NM_000425.4(L1CAM): c.719C> T (p.Pro240Leu) single nucleotide variant Pathogenic rs137852526 GRCh38 Chromosome X, 153870475: 153870475
3 L1CAM NM_000425.4(L1CAM): c.2278C> T (p.Arg760Ter) single nucleotide variant Pathogenic rs797045673 GRCh37 Chromosome X, 153132257: 153132257
4 L1CAM NM_000425.4(L1CAM): c.2278C> T (p.Arg760Ter) single nucleotide variant Pathogenic rs797045673 GRCh38 Chromosome X, 153866802: 153866802
5 46;XX;t(2;11)(p25.1;p15.1)dn Translocation Uncertain significance
6 Translocation Likely pathogenic
7 46;XX;t(8;14)(q21.2;q12)dn Translocation Likely pathogenic
8 DYNC1H1 NM_001376.4(DYNC1H1): c.7640C> T (p.Pro2547Leu) single nucleotide variant Likely benign rs1057518888 GRCh38 Chromosome 14, 102016791: 102016791
9 DYNC1H1 NM_001376.4(DYNC1H1): c.7640C> T (p.Pro2547Leu) single nucleotide variant Likely benign rs1057518888 GRCh37 Chromosome 14, 102483128: 102483128
10 L1CAM NM_001278116.1(L1CAM): c.3163G> A (p.Gly1055Arg) single nucleotide variant Uncertain significance rs1484399991 GRCh37 Chromosome X, 153130043: 153130043
11 L1CAM NM_001278116.1(L1CAM): c.3163G> A (p.Gly1055Arg) single nucleotide variant Uncertain significance rs1484399991 GRCh38 Chromosome X, 153864588: 153864588
12 subset of 43 genes:PAFAH1B1 GRCh37/hg19 17p13.3(chr17: 1-2538512)x4,5 copy number gain Uncertain significance GRCh37 Chromosome 17, 1: 2538512

Expression for Corpus Callosum, Partial Agenesis of, X-Linked

Search GEO for disease gene expression data for Corpus Callosum, Partial Agenesis of, X-Linked.

Pathways for Corpus Callosum, Partial Agenesis of, X-Linked

GO Terms for Corpus Callosum, Partial Agenesis of, X-Linked

Sources for Corpus Callosum, Partial Agenesis of, X-Linked

3 CDC
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75 UMLS via Orphanet
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