MCID: CRP025
MIFTS: 24

Corpus Callosum, Partial Agenesis of malady

Categories: Genetic diseases, Neuronal diseases, Fetal 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 51 26 12
Agenesis of the Corpus Callosum, X-Linked, Partial 69 26
X-Linked Complicated Corpus Callosum Dysgenesis 53
 
Corpus Callosum, Partial Agenesis of, X-Linked 51
Accpx 69

Characteristics:

Orphanet epidemiological data:

53
x-linked complicated corpus callosum dysgenesis:
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal

HPO:

63
corpus callosum, partial agenesis of:
Inheritance: x-linked inheritance

Classifications:



External Ids:

OMIM51 304100
Orphanet53 ORPHA1497
ICD10 via Orphanet30 Q04.8
MedGen36 C1839909
MeSH38 D055673

Summaries for Corpus Callosum, Partial Agenesis of

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UniProtKB/Swiss-Prot:69 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, 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:51 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:

idRelated DiseaseScoreTop Affiliating Genes
1x-linked complicated corpus callosum agenesis11.3

Symptoms for Corpus Callosum, Partial Agenesis of

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Symptoms by clinical synopsis from OMIM:

304100

Clinical features from OMIM:

304100

Human phenotypes related to Corpus Callosum, Partial Agenesis of:

 63 53 (show all 13)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures63 53 hallmark (90%) Very frequent (99-80%) HP:0001250
2 cognitive impairment63 hallmark (90%) HP:0100543
3 microcephaly63 53 typical (50%) Frequent (79-30%) HP:0000252
4 hypertonia63 typical (50%) HP:0001276
5 muscle weakness63 53 typical (50%) Frequent (79-30%) HP:0001324
6 aganglionic megacolon63 53 occasional (7.5%) Occasional (29-5%) HP:0002251
7 hydrocephalus63 HP:0000238
8 intellectual disability63 53 Very frequent (99-80%) HP:0001249
9 spasticity63 53 Frequent (79-30%) HP:0001257
10 cerebellar hypoplasia63 53 Frequent (79-30%) HP:0001321
11 partial agenesis of the corpus callosum63 HP:0001338
12 abnormal facial shape63 HP:0001999
13 inferior vermis hypoplasia63 HP:0007068

Drugs & Therapeutics for Corpus Callosum, Partial Agenesis of

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Interventional clinical trials:

idNameStatusNCT IDPhase
1BECOME CHILDREN OF HOLDERS Corpus Callosum Agenesis Screened IN PERIOD AntenatalRecruitingNCT02826824
2Brain 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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Genetic tests related to Corpus Callosum, Partial Agenesis of:

id Genetic test Affiliating Genes
1 Corpus Callosum, Partial Agenesis of, X-Linked26
2 Partial Agenesis of the Corpus Callosum26

Anatomical Context for Corpus Callosum, Partial Agenesis of

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

35
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:

69
id Symbol AA change Variation ID SNP ID
1L1CAMp.Pro240LeuVAR_003928rs137852526

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)SNVPathogenicrs137852526GRCh37Chr 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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet