MCID: CRP025
MIFTS: 22

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 50 25 12
Agenesis of the Corpus Callosum, X-Linked, Partial 68 25
X-Linked Complicated Corpus Callosum Dysgenesis 52
 
Corpus Callosum, Partial Agenesis of, X-Linked 50
Accpx 68

Characteristics:

Orphanet epidemiological data:

52
x-linked complicated corpus callosum dysgenesis:
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal

HPO:

62
corpus callosum, partial agenesis of:
Inheritance: x-linked inheritance


Classifications:



External Ids:

OMIM50 304100
Orphanet52 ORPHA1497
ICD10 via Orphanet29 Q04.8
MedGen35 C1839909
MeSH37 D055673

Summaries for Corpus Callosum, Partial Agenesis of

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UniProtKB/Swiss-Prot:68 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, is also known as agenesis of the corpus callosum, x-linked, partial, 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:50 304100

Related Diseases for Corpus Callosum, Partial Agenesis of

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Symptoms for Corpus Callosum, Partial Agenesis of

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Symptoms by clinical synopsis from OMIM:

304100

Clinical features from OMIM:

304100

Symptoms:

 52 (show all 7)
  • microcephaly
  • intellectual disability
  • seizures
  • spasticity
  • cerebellar hypoplasia
  • muscle weakness
  • aganglionic megacolon

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

(show all 16)
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 abnormal facial shape HP:0001999
15 aganglionic megacolon HP:0002251
16 inferior vermis hypoplasia HP:0007068

Drugs & Therapeutics for Corpus Callosum, Partial Agenesis of

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Brain Development Research ProgramRecruitingNCT00305305
2BECOME CHILDREN OF HOLDERS Corpus Callosum Agenesis Screened IN PERIOD AntenatalNot yet recruitingNCT02826824

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-Linked25
2 Partial Agenesis of the Corpus Callosum25

Anatomical Context for Corpus Callosum, Partial Agenesis of

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

34
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:

68
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)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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet