MCID: CRP025
MIFTS: 21

Corpus Callosum, Partial Agenesis of malady

Genetic diseases, Rare diseases categories

Summaries for Corpus Callosum, Partial Agenesis of

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MalaCards based summary: Corpus Callosum, Partial Agenesis of, also known as partial agenesis of corpus callosum, is related to polysyndactyly and coffin-siris syndrome, and has symptoms including hydrocephalus, microcephaly and intellectual disability. An important gene associated with Corpus Callosum, Partial Agenesis of is L1CAM (L1 cell adhesion molecule).

Description from OMIM:45 304100

Aliases & Classifications for Corpus Callosum, Partial Agenesis of

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Corpus Callosum, Partial Agenesis of, Aliases & Descriptions:

Name: Corpus Callosum, Partial Agenesis of 45 10
Partial Agenesis of Corpus Callosum 41 60
Severe Intellectual Retardation and Intractable Seizures 41
 
Corpus Callosum, Partial Agenesis of, X-Linked 22
Pacc 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


External Ids:

OMIM45 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 13)
idRelated DiseaseScoreTop Affiliating Genes
1polysyndactyly10.5
2coffin-siris syndrome10.3
3acrocallosal syndrome10.3
4focal segmental glomerulosclerosis10.3
5leopard syndrome10.3
6agenesis of the corpus callosum10.3
7cerebellar hypoplasia10.3
8colpocephaly10.3
9ring chromosome 610.3
10sakati syndrome10.3
11aspergillosis10.2
12dysentery10.1
13pneumonia10.1

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 11)
id Description Frequency HPO Source Accession
1 hydrocephalus HP:0000238
2 microcephaly HP:0000252
3 intellectual disability HP:0001249
4 seizures HP:0001250
5 spasticity HP:0001257
6 cerebellar hypoplasia HP:0001321
7 partial agenesis of the corpus callosum HP:0001338
8 x-linked inheritance HP:0001417
9 abnormal facial shape HP:0001999
10 aganglionic megacolon HP:0002251
11 inferior vermis hypoplasia HP:0007068

Drugs & Therapeutics for Corpus Callosum, Partial Agenesis of

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Drug clinical trials:

Search ClinicalTrials for Corpus Callosum, Partial Agenesis of

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-Linked22

Anatomical Context for Corpus Callosum, Partial Agenesis of

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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:

62
id Symbol AA change Variation ID SNP ID
1L1CAMp.Pro240LeuVAR_003928

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

6
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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Compounds 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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Products for genes affiliated with Corpus Callosum, Partial Agenesis of

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Corpus Callosum, Partial Agenesis of

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet