ACCPX
MCID: CRP025
MIFTS: 24

Corpus Callosum, Partial Agenesis of (ACCPX) malady

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

Aliases & Classifications for Corpus Callosum, Partial Agenesis of

Aliases & Descriptions for Corpus Callosum, Partial Agenesis of:

Name: Corpus Callosum, Partial Agenesis of 54 29 13
Agenesis of the Corpus Callosum, X-Linked, Partial 66 29
X-Linked Complicated Corpus Callosum Dysgenesis 56
Corpus Callosum, Partial Agenesis of, X-Linked 54
Accpx 66

Characteristics:

Orphanet epidemiological data:

56
x-linked complicated corpus callosum dysgenesis
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

HPO:

32
corpus callosum, partial agenesis of:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 54 304100
Orphanet 56 ORPHA1497
ICD10 via Orphanet 34 Q04.8
MedGen 40 C1839909
MeSH 42 D055673

Summaries for Corpus Callosum, Partial Agenesis of

UniProtKB/Swiss-Prot : 66 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, also known as agenesis of the corpus callosum, x-linked, partial, is related to x-linked complicated corpus callosum agenesis, and has symptoms including seizures, intellectual disability and spasticity. An important gene associated with Corpus Callosum, Partial Agenesis of is L1CAM (L1 Cell Adhesion Molecule). Affiliated tissues include cerebellum and brain.

Description from OMIM: 304100

Related Diseases for Corpus Callosum, Partial Agenesis of

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

id Related Disease Score Top Affiliating Genes
1 x-linked complicated corpus callosum agenesis 11.3

Symptoms & Phenotypes for Corpus Callosum, Partial Agenesis of

Symptoms by clinical synopsis from OMIM:

304100

Clinical features from OMIM:

304100

Human phenotypes related to Corpus Callosum, Partial Agenesis of:

56 32 (show all 11)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Very frequent (99-80%) HP:0001250
2 intellectual disability 56 32 Very frequent (99-80%) HP:0001249
3 spasticity 56 32 Frequent (79-30%) HP:0001257
4 microcephaly 56 32 Frequent (79-30%) HP:0000252
5 aganglionic megacolon 56 32 Occasional (29-5%) HP:0002251
6 cerebellar hypoplasia 56 32 Frequent (79-30%) HP:0001321
7 muscle weakness 56 Frequent (79-30%)
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

Interventional clinical trials:


id Name Status NCT ID Phase
1 BECOME CHILDREN OF HOLDERS Corpus Callosum Agenesis Screened IN PERIOD Antenatal Recruiting NCT02826824
2 Brain Development Research Program Recruiting NCT00305305

Search NIH Clinical Center for Corpus Callosum, Partial Agenesis of

Genetic Tests for Corpus Callosum, Partial Agenesis of

Genetic tests related to Corpus Callosum, Partial Agenesis of:

id Genetic test Affiliating Genes
1 Corpus Callosum, Partial Agenesis of, X-Linked 29
2 Partial Agenesis of the Corpus Callosum 29

Anatomical Context for Corpus Callosum, Partial Agenesis of

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

39
Cerebellum, Brain

Publications for Corpus Callosum, Partial Agenesis of

Variations for Corpus Callosum, Partial Agenesis of

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

66
id Symbol AA change Variation ID SNP ID
1 L1CAM p.Pro240Leu VAR_003928 rs137852526

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

6
id 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

Expression for Corpus Callosum, Partial Agenesis of

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

Pathways for Corpus Callosum, Partial Agenesis of

GO Terms for Corpus Callosum, Partial Agenesis of

Sources for Corpus Callosum, Partial Agenesis of

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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