ACCPX
MCID: CRP035
MIFTS: 38

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 56 29 6
X-Linked Complicated Corpus Callosum Dysgenesis 52 58
Partial Agenesis of the Corpus Callosum 29 6
Corpus Callosum, Partial Agenesis of 56 13
Agenesis of the Corpus Callosum, X-Linked, Partial 73
X-Linked Complicated Corpus Callosum Agenesis 52
X-Linked Partial Agenesis of Corpus Callosum 52
Agenesis, Corpus Callosum, Partial, X-Linked 39
X-Linked Partial Corpus Callosum Agenesis 52
Partial Agenesis of Corpus Callosum 74
Accpx 73

Characteristics:

Orphanet epidemiological data:

58
x-linked complicated corpus callosum dysgenesis
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

56
Inheritance:
x-linked recessive


HPO:

31
corpus callosum, partial agenesis of, x-linked:
Inheritance x-linked inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


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

UniProtKB/Swiss-Prot : 73 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 x-linked complicated corpus callosum dysgenesis, is related to microcephaly and chudley-mccullough 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 fetal brain, and related phenotypes are intellectual disability and seizure

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

More information 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 top 50) (show all 73)
# Related Disease Score Top Affiliating Genes
1 microcephaly 29.2 TAF8 L1CAM
2 chudley-mccullough syndrome 12.2
3 opitz-kaveggia syndrome 12.0
4 agenesis of the corpus callosum with peripheral neuropathy 11.6
5 microcephaly, growth deficiency, seizures, and brain malformations 11.6
6 masa syndrome 11.5
7 structural heart defects and renal anomalies syndrome 11.5
8 microcephalic osteodysplastic primordial dwarfism, type i 11.4
9 growth retardation, small and puffy hands and feet, and eczema 11.4
10 curry-jones syndrome 11.4
11 infantile spasms broad thumbs 11.4
12 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.7
13 hydrocephalus 10.4
14 neural tube defects 10.3
15 myelomeningocele 10.3
16 hypotonia 10.3
17 alacrima, achalasia, and mental retardation syndrome 10.3
18 visual epilepsy 10.3
19 seizure disorder 10.3
20 greig cephalopolysyndactyly syndrome 10.3
21 corpus callosum, agenesis of 10.3
22 duane retraction syndrome 1 10.1
23 pilomatrixoma 10.1
24 hypertelorism 10.1
25 septooptic dysplasia 10.1
26 thanatophoric dysplasia, type i 10.1
27 down syndrome 10.1
28 arachnoid cysts, intracranial 10.1
29 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.1
30 hydrocephalus due to congenital stenosis of aqueduct of sylvius 10.1
31 mucolipidosis iv 10.1
32 epilepsy, myoclonic juvenile 10.1
33 sacral defect with anterior meningocele 10.1
34 epilepsy, idiopathic generalized 10.1
35 branchiootic syndrome 1 10.1
36 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
37 roifman syndrome 10.1
38 west syndrome 10.1
39 lissencephaly 10.1
40 left ventricular noncompaction 10.1
41 mucolipidosis 10.1
42 sensorineural hearing loss 10.1
43 early myoclonic encephalopathy 10.1
44 holoprosencephaly 10.1
45 learning disability 10.1
46 alien hand syndrome 10.1
47 chromosomal triplication 10.1
48 pachygyria 10.1
49 lissencephaly with cerebellar hypoplasia 10.1
50 microlissencephaly 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:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 seizure 31 hallmark (90%) HP:0001250
3 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
4 muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0001324
5 spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0001257
6 cerebellar hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0001321
7 aganglionic megacolon 58 31 occasional (7.5%) Occasional (29-5%) HP:0002251
8 seizures 58 Very frequent (99-80%)
9 abnormal facial shape 31 HP:0001999
10 hydrocephalus 31 HP:0000238
11 partial agenesis of the corpus callosum 31 HP:0001338
12 inferior vermis hypoplasia 31 HP:0007068
13 interhemispheric cyst 31 HP:0032327

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
spasticity
cerebellar hypoplasia
partial agenesis of the corpus callosum
inferior vermis hypoplasia
more
Abdomen Gastrointestinal:
hirschsprung disease

Muscle Soft Tissue:
arm weakness

Head And Neck Head:
hydrocephalus
microcephaly

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 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:

40
Brain, Cerebellum, Fetal Brain, Skin

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

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

(show top 50) (show all 153)
# Title Authors PMID Year
1
Expanding the phenotypic spectrum of L1CAM-associated disease. 6 56
16650080 2006
2
L1 Syndrome 6
20301657 2004
3
Five novel mutations in the L1CAM gene in families with X linked hydrocephalus. 6
8929944 1996
4
X-linked recessive inheritance of dysgenesis of corpus callosum in a Chinese family. 56
1481821 1992
5
X linked recessive inheritance of agenesis of the corpus callosum. 56
6682447 1983
6
HEREDITARY PARTIAL AGENESIS OF CORPUS CALLOSUM; BIOCHEMICAL AND PATHOLOGICAL STUDIES. 56
14158525 1964
7
Case of Calcifying Pseudoneoplasms of the Neuraxis Coexisting with Interhemispheric Lipoma and Agenesis of the Corpus Callosum: Involvement of Infiltrating Macrophages. 61
31704362 2020
8
Exome sequencing study of partial agenesis of the corpus callosum in men with developmental delay, epilepsy, and microcephaly. 61
31578829 2020
9
Analyses of pathological cranial ultrasound findings in neonates that fall outside recent indication guidelines: results of a population-based birth cohort: survey of neonates in Pommerania (SNiP-study). 61
31805885 2019
10
Utility of indirect sonographic signs (including cavum septum pellucidum ratio) in midgestational screening for partial agenesis of corpus callosum. 61
30838673 2019
11
MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy. 61
31039582 2019
12
Snf2h Drives Chromatin Remodeling to Prime Upper Layer Cortical Neuron Development. 61
31680852 2019
13
Neuropsychiatric Manifestations of Partial Agenesis of the Corpus Callosum: A Case Report and Literature Review. 61
31019828 2019
14
Co-occurrence of mutations in FOXP1 and PTCH1 in a girl with extreme megalencephaly, callosal dysgenesis and profound intellectual disability. 61
30181650 2018
15
Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9. 61
29463858 2018
16
Congenital cavitary optic disc anomaly and Axenfeld's anomaly in Wolf-Hirschhorn syndrome: A case report and review of the literature. 61
29199884 2018
17
Cavum septi pellucidi (CSP) ratio: a marker for partial agenesis of the fetal corpus callosum. 61
28078790 2017
18
Constitutional 560.49 kb chromosome 2p24.3 duplication including the MYCN gene identified by SNP chromosome microarray analysis in a child with multiple congenital anomalies and bilateral Wilms tumor. 61
27794475 2016
19
Fetal development of the corpus callosum: Insights from a 3T DTI and tractography study in a patient with segmental callosal agenesis. 61
27549148 2016
20
A novel 2q14.1q14.3 deletion involving GLI2 and RNU4ATAC genes associated with partial corpus callosum agenesis and severe intrauterine growth retardation. 61
27346851 2016
21
Chudley-McCullough Syndrome: Variable Clinical Picture in Twins with a Novel GPSM2 Mutation. 61
27064331 2016
22
Abnormal shape of the cavum septi pellucidi: an indirect sign of partial agenesis of the corpus callosum. 61
25586942 2015
23
Orodental manifestations in cases with partial agenesis of corpus callosum-rare phenomena. 61
26258024 2015
24
A NEW OBSERVATION OF 13q DELETION SYNDROME: SEVERE UNDESCRIBED FEATURES. 61
26349191 2015
25
Mowat-Wilson syndrome: neurological and molecular study in seven patients. 61
25608121 2015
26
Inversion duplication deletions involving the long arm of chromosome 13: phenotypic description of additional three fetuses and genotype-phenotype correlation. 61
24975584 2014
27
Comparison of ultrasound and magnetic resonance imaging in the prenatal diagnosis of Apert syndrome: report of a case. 61
24566675 2014
28
Meningioangiomatosis in a second trimester fetus. 61
24678957 2014
29
Verbal learning and memory in agenesis of the corpus callosum. 61
24933663 2014
30
Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation. 61
24045845 2014
31
Palliative epilepsy surgery in Aicardi syndrome: a case series and review of literature. 61
23948796 2014
32
An acardiac twin with advanced development of the brain: a histologic and volumetric study. 61
24040763 2014
33
Holoprosencephaly spectrum among Egyptian patients: clinical and cytogenetic study. 61
25804014 2014
34
Gelastic epilepsy in combination with hypothalamic hamartoma and partial agenesis of the corpus callosum: A case report and review of the literature. 61
24255688 2013
35
Monozygotic twins with trisomy 21 and partial agenesis of the corpus callosum. 61
23498567 2013
36
[Heterotopic gray matter: A rare cause of epilepsy]. 61
23434142 2013
37
Differential seizure response in two models of cortical heterotopia. 61
23201443 2013
38
Assessing prenatal white matter connectivity in commissural agenesis. 61
23365096 2013
39
Cryptic del/dup aberration of 60.6 Mb at 5q15-5q23.3 predicting adult-onset leukodystrophy. 61
22776853 2012
40
Multiple spinal anomalies associated with dysgenesis of the corpus callosum. 61
20411436 2012
41
GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome. 61
22578326 2012
42
A 1.1 million base pair X-chromosomal deletion covering the PDHA1 and CDKL5 genes in a female patient with West syndrome and pyruvate oxidation deficiency. 61
22473288 2012
43
Diverticulum of the third ventricle and absence of the interthalamic adhesion in a dog. 61
23115368 2012
44
Neurodevelopment after prenatal diagnosis of isolated agenesis of the corpus callosum: an integrative review. 61
22284958 2012
45
Visuotactile interactions in the congenitally acallosal brain: evidence for early cerebral plasticity. 61
22019774 2011
46
Partial agenesis of the corpus callosum, hippocampal atrophy, and stable intellectual disability associated with Roifman syndrome. 61
21910238 2011
47
Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene. 61
21910224 2011
48
The proximal chromosome 14q microdeletion syndrome: delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature. 61
21744488 2011
49
[Early onset schizophrenia and partial agenesis of corpus callosum]. 61
21215603 2011
50
Pericallosal lipoma and middle cerebral artery aneurysm: a coincidence? 61
20151118 2010

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

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TAF8 NM_138572.3(TAF8):c.781-1G>ASNV Pathogenic 638647 6:42044837-42044837 6:42077099-42077099
2 L1CAM NM_001278116.2(L1CAM):c.719C>T (p.Pro240Leu)SNV Pathogenic 10001 rs137852526 X:153135930-153135930 X:153870475-153870475
3 L1CAM NM_001278116.2(L1CAM):c.2278C>T (p.Arg760Ter)SNV Pathogenic 211339 rs797045673 X:153132257-153132257 X:153866802-153866802
4 46;XX;t(3;18;5;7)(p25;p11.2;q13.3;q32);t(9;18)(p22;q21)dnTranslocation Likely pathogenic 267912
5 46;XX;t(8;14)(q21.2;q12)dnTranslocation Likely pathogenic 268005
6 L1CAM NM_001278116.2(L1CAM):c.604G>A (p.Asp202Asn)SNV Likely pathogenic 689728 X:153136335-153136335 X:153870880-153870880
7 L1CAM NM_001278116.2(L1CAM):c.3163G>A (p.Gly1055Arg)SNV Uncertain significance 438595 rs1484399991 X:153130043-153130043 X:153864588-153864588
8 subset of 43 genes: PAFAH1B1 GRCh37/hg19 17p13.3(chr17:1-2538512)x4,5copy number gain Uncertain significance 544685 17:1-2538512
9 46;XX;t(2;11)(p25.1;p15.1)dnTranslocation Uncertain significance 267849
10 DYNC1H1 NM_001376.5(DYNC1H1):c.7640C>T (p.Pro2547Leu)SNV Likely benign 374086 rs1057518888 14:102483128-102483128 14:102016791-102016791

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

73
# Symbol AA change Variation ID SNP ID
1 L1CAM p.Pro240Leu VAR_003928 rs137852526

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

Biological processes related to Corpus Callosum, Partial Agenesis of, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 8.96 TAF8 L1CAM
2 cell differentiation GO:0030154 8.62 TAF8 L1CAM

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

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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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