MCID: CRP025
MIFTS: 25

Corpus Callosum, Partial Agenesis of malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Corpus Callosum, Partial Agenesis of

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Aliases & Descriptions for Corpus Callosum, Partial Agenesis of:

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

Characteristics:

HPO:

61
corpus callosum, partial agenesis of:
Inheritance: x-linked inheritance


Classifications:



External Ids:

OMIM49 304100
MedGen34 C1839909
MeSH36 D055673

Summaries for Corpus Callosum, Partial Agenesis of

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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 agenesis of the corpus callosum, x-linked, partial, is related to focal segmental glomerulosclerosis and x-linked complicated corpus callosum dysgenesis, and has symptoms including cognitive impairment, seizures and muscle weakness. 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

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

(show all 19)
idRelated DiseaseScoreTop Affiliating Genes
1focal segmental glomerulosclerosis11.7
2x-linked complicated corpus callosum dysgenesis11.7
3charcot-marie-tooth disease, type 1b10.4
4charcot-marie-tooth disease10.4
5artery disease10.4
6tooth disease10.4
7dysentery10.4
8prostatitis10.4
9liposarcoma10.4
10carotid artery disease10.4
11granuloma inguinale10.4
12dedifferentiated liposarcoma10.4
13chronic lymphocytic leukemia10.3
14leukemia10.3
15hyperandrogenism10.3
16dementia10.3
17herpes zoster10.3
18syndrome of inappropriate antidiuretic hormone10.3
19endotheliitis10.3

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



Diseases related to corpus callosum, partial agenesis of

Symptoms for Corpus Callosum, Partial Agenesis of

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Symptoms by clinical synopsis from OMIM:

304100

Clinical features from OMIM:

304100

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

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

Drugs & Therapeutics for Corpus Callosum, Partial Agenesis of

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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

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Anatomical Context for Corpus Callosum, Partial Agenesis of

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

33
Cerebellum, Brain

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

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Publications for Corpus Callosum, Partial Agenesis of

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Variations for Corpus Callosum, Partial Agenesis of

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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

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

Pathways for genes affiliated with Corpus Callosum, Partial Agenesis of

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

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Sources for Corpus Callosum, Partial Agenesis of

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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