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 52 27 12
Agenesis of the Corpus Callosum, X-Linked, Partial 70 27
X-Linked Complicated Corpus Callosum Dysgenesis 54
 
Corpus Callosum, Partial Agenesis of, X-Linked 52
Accpx 70

Characteristics:

Orphanet epidemiological data:

54
x-linked complicated corpus callosum dysgenesis:
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal

HPO:

64
corpus callosum, partial agenesis of:
Inheritance: x-linked inheritance

Classifications:



External Ids:

OMIM52 304100
Orphanet54 ORPHA1497
ICD10 via Orphanet31 Q04.8
MedGen37 C1839909
MeSH39 D055673

Summaries for Corpus Callosum, Partial Agenesis of

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UniProtKB/Swiss-Prot:70 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:52 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 & Phenotypes 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:

 64 54 (show all 13)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures64 54 hallmark (90%) Very frequent (99-80%) HP:0001250
2 cognitive impairment64 hallmark (90%) HP:0100543
3 microcephaly64 54 typical (50%) Frequent (79-30%) HP:0000252
4 hypertonia64 typical (50%) HP:0001276
5 muscle weakness64 54 typical (50%) Frequent (79-30%) HP:0001324
6 aganglionic megacolon64 54 occasional (7.5%) Occasional (29-5%) HP:0002251
7 hydrocephalus64 HP:0000238
8 intellectual disability64 54 Very frequent (99-80%) HP:0001249
9 spasticity64 54 Frequent (79-30%) HP:0001257
10 cerebellar hypoplasia64 54 Frequent (79-30%) HP:0001321
11 partial agenesis of the corpus callosum64 HP:0001338
12 abnormal facial shape64 HP:0001999
13 inferior vermis hypoplasia64 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-Linked27
2 Partial Agenesis of the Corpus Callosum27

Anatomical Context for Corpus Callosum, Partial Agenesis of

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

36
Cerebellum, Brain

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:

70
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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet