MCID: CRP025
MIFTS: 28

Corpus Callosum, Partial Agenesis of malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Corpus Callosum, Partial Agenesis of

About this section

Aliases & Descriptions for Corpus Callosum, Partial Agenesis of:

Name: Corpus Callosum, Partial Agenesis of 49 11
Partial Agenesis of Corpus Callosum 45 65
Severe Intellectual Retardation and Intractable Seizures 45
Agenesis of the Corpus Callosum, X-Linked, Partial 67
 
Corpus Callosum, Partial Agenesis of, X-Linked 24
Accpx 67
Pacc 45


Classifications:



External Ids:

OMIM49 304100
MedGen34 C1839909
MeSH36 D055673

Summaries for Corpus Callosum, Partial Agenesis of

About this section
UniProtKB/Swiss-Prot:67 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 partial agenesis of corpus callosum, is related to acrocallosal syndrome and focal segmental glomerulosclerosis, and has symptoms including seizures, cognitive impairment and microcephaly. 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:49 304100

Related Diseases for Corpus Callosum, Partial Agenesis of

About this section

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



Diseases related to corpus callosum, partial agenesis of

Symptoms for Corpus Callosum, Partial Agenesis of

About this section

Symptoms by clinical synopsis from OMIM:

304100

Clinical features from OMIM:

304100

HPO human phenotypes related to Corpus Callosum, Partial Agenesis of:

(show all 17)
id Description Frequency HPO Source Accession
1 seizures hallmark (90%) HP:0001250
2 cognitive impairment hallmark (90%) HP:0100543
3 microcephaly typical (50%) HP:0000252
4 hypertonia typical (50%) HP:0001276
5 muscle weakness typical (50%) HP:0001324
6 aganglionic megacolon occasional (7.5%) HP:0002251
7 hydrocephalus HP:0000238
8 microcephaly HP:0000252
9 intellectual disability HP:0001249
10 seizures HP:0001250
11 spasticity HP:0001257
12 cerebellar hypoplasia HP:0001321
13 partial agenesis of the corpus callosum HP:0001338
14 x-linked inheritance HP:0001417
15 abnormal facial shape HP:0001999
16 aganglionic megacolon HP:0002251
17 inferior vermis hypoplasia HP:0007068

Drugs & Therapeutics for Corpus Callosum, Partial Agenesis of

About this section

Interventional clinical trials:

idNameStatusNCT IDPhase
1Brain Development Research ProgramRecruitingNCT00305305

Search NIH Clinical Center for Corpus Callosum, Partial Agenesis of

Genetic Tests for Corpus Callosum, Partial Agenesis of

About this section

Genetic tests related to Corpus Callosum, Partial Agenesis of:

id Genetic test Affiliating Genes
1 Corpus Callosum, Partial Agenesis of, X-Linked24

Anatomical Context for Corpus Callosum, Partial Agenesis of

About this section

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

33
Cerebellum, Brain

Animal Models for Corpus Callosum, Partial Agenesis of or affiliated genes

About this section

Publications for Corpus Callosum, Partial Agenesis of

About this section

Variations for Corpus Callosum, Partial Agenesis of

About this section

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

67
id Symbol AA change Variation ID SNP ID
1L1CAMp.Pro240LeuVAR_003928

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1L1CAMNM_000425.4(L1CAM): c.719C> T (p.Pro240Leu)single nucleotide variantPathogenicrs137852526GRCh37Chr X, 153135930: 153135930

Expression for genes affiliated with Corpus Callosum, Partial Agenesis of

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

Pathways for genes affiliated with Corpus Callosum, Partial Agenesis of

About this section

GO Terms for genes affiliated with Corpus Callosum, Partial Agenesis of

About this section

Sources for Corpus Callosum, Partial Agenesis of

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet