ACCPX
MCID: CRP035
MIFTS: 34

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 57 29 6
Partial Agenesis of the Corpus Callosum 29 6
Corpus Callosum, Partial Agenesis of 57 13
Agenesis of the Corpus Callosum, X-Linked, Partial 75
X-Linked Complicated Corpus Callosum Dysgenesis 59
Agenesis, Corpus Callosum, Partial, X-Linked 40
Partial Agenesis of Corpus Callosum 76
Accpx 75

Characteristics:

Orphanet epidemiological data:

59
x-linked complicated corpus callosum dysgenesis
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

57
Inheritance:
x-linked recessive


HPO:

32
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 : 75 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 and cerebellum, and related phenotypes are intellectual disability and seizures

Wikipedia : 76 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 39)
# 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 11.4
4 agenesis of the corpus callosum with peripheral neuropathy 11.3
5 curry-jones syndrome 11.3
6 grubben de cock borghgraef syndrome 11.3
7 infantile spasms broad thumbs 11.3
8 neural tube defects 10.2
9 epilepsy 10.2
10 schizophrenia 10.1
11 septooptic dysplasia 10.1
12 thanatophoric dysplasia, type i 10.1
13 down syndrome 10.1
14 hydrocephalus, congenital, 1 10.1
15 sacral defect with anterior meningocele 10.1
16 neural tube defects, folate-sensitive 10.1
17 epilepsy, idiopathic generalized 10 10.1
18 alacrima, achalasia, and mental retardation syndrome 10.1
19 roifman syndrome 10.1
20 holoprosencephaly 10.1
21 hydrocephalus 10.1
22 myelomeningocele 10.1
23 left ventricular noncompaction 10.1
24 microcephaly 10.1
25 infantile epileptic encephalopathy 10.1
26 alien hand syndrome 10.1
27 arachnoid cysts 10.1
28 chromosomal triplication 10.1
29 pachygyria 10.1
30 hypotonia 10.1
31 lobar holoprosencephaly 10.1
32 acrocephalopolysyndactyly type iii 10.1
33 acrocallosal syndrome 10.1
34 cerebellar hypoplasia 10.1
35 schizencephaly 10.1
36 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.1
37 leopard syndrome 10.1
38 colpocephaly 10.1
39 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

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
2 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
3 spasticity 59 32 frequent (33%) Frequent (79-30%) HP:0001257
4 muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0001324
5 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
6 aganglionic megacolon 59 32 occasional (7.5%) Occasional (29-5%) HP:0002251
7 cerebellar hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0001321
8 hydrocephalus 32 HP:0000238
9 abnormal facial shape 32 HP:0001999
10 partial agenesis of the corpus callosum 32 HP:0001338
11 inferior vermis hypoplasia 32 HP:0007068

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 29 L1CAM
2 Partial Agenesis of the Corpus Callosum 29

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

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

41
Brain, Cerebellum

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

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

(show all 27)
# Title Authors Year
1
Abnormal shape of the cavum septi pellucidi: An indirect sign of partial agenesis of the corpus callosum. ( 25586942 )
2015
2
Gelastic epilepsy in combination with hypothalamic hamartoma and partial agenesis of the corpus callosum: A case report and review of the literature. ( 24255688 )
2013
3
Monozygotic twins with trisomy 21 and partial agenesis of the corpus callosum. ( 23498567 )
2013
4
Partial agenesis of the corpus callosum, hippocampal atrophy, and stable intellectual disability associated with Roifman syndrome. ( 21910238 )
2011
5
Caudal Regression Syndrome with Partial Agenesis of the Corpus callosum and Partial Lobar Holoprosencephaly: Case report. ( 21509087 )
2010
6
Possible new syndrome: Left ventricular noncompaction, partial agenesis of the corpus callosum, and developmental delay in a Brazilian child. ( 19396836 )
2009
7
Partial agenesis of the corpus callosum in spina bifida meningomyelocele and potential compensatory mechanisms. ( 19052950 )
2009
8
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
9
First-episode 'coenesthetic' schizophrenia presenting with alien hand syndrome and partial agenesis of the corpus callosum. ( 18997478 )
2008
10
Partial agenesis of the corpus callosum in a patient with juvenile myoclonic epilepsy. ( 18077235 )
2007
11
Characteristics, associations and outcome of partial agenesis of the corpus callosum in the fetus. ( 16619387 )
2006
12
Extreme microcephaly with agyria-pachygyria, partial agenesis of the corpus callosum, and pontocerebellar dysplasia. ( 15794192 )
2005
13
Prenatal diagnosis of partial agenesis of the corpus callosum in a fetus with thanatophoric dysplasia type 2. ( 12001196 )
2002
14
Partial agenesis of the corpus callosum with partial seizures and bilateral congenital lacrimal duct atresia. ( 11195027 )
2001
15
Problems with interhemispheric transfer of information in complete or partial agenesis of the corpus callosum. ( 11944741 )
2001
16
Bilateral sensorineural deafness, partial agenesis of the corpus callosum, and arachnoid cysts in two sisters. ( 10449658 )
1999
17
Interhemispheric transfer of visual, auditory, tactile, and visuomotor information in children with hydrocephalus and partial agenesis of the corpus callosum. ( 10649538 )
1999
18
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
19
Antenatal ultrasonographic findings differentiating complete from partial agenesis of the corpus callosum. ( 8633659 )
1996
20
Psychosis in Apert's syndrome with partial agenesis of the corpus callosum. ( 7647085 )
1995
21
Infantile spasms in a patient with septo-optic dysplasia, partial agenesis of the corpus callosum and an interhemispheric cyst. ( 1324816 )
1992
22
Antenatal diagnosis of partial agenesis of the corpus callosum: a benign cause of ventriculomegaly. ( 3293448 )
1988
23
Brain malformation associated with neural tube defects. Report of three cases of partial agenesis of the corpus callosum and myelomeningocele. ( 3440881 )
1987
24
Pattern-evoked cortical potentials and nuclear magnetic resonance imaging in total and partial agenesis of the corpus callosum. ( 4053962 )
1985
25
Interhemispheric cyst of neuroepithelial origin in association with partial agenesis of the corpus callosum. Case report and review of the literature. ( 7359196 )
1980
26
Partial agenesis of the corpus callosum simulating a neoplasm. Case report. ( 4538455 )
1972
27
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:

75
# 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
# 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 DYNC1H1 NM_001376.4(DYNC1H1): c.7640C> T (p.Pro2547Leu) single nucleotide variant Likely benign rs1057518888 GRCh38 Chromosome 14, 102016791: 102016791
4 DYNC1H1 NM_001376.4(DYNC1H1): c.7640C> T (p.Pro2547Leu) single nucleotide variant Likely benign rs1057518888 GRCh37 Chromosome 14, 102483128: 102483128
5 L1CAM NM_001278116.1(L1CAM): c.3163G> A (p.Gly1055Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 153130043: 153130043
6 L1CAM NM_001278116.1(L1CAM): c.3163G> A (p.Gly1055Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 153864588: 153864588

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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....