PACC
MCID: PRT047
MIFTS: 22

Partial Agenesis of Corpus Callosum (PACC) malady

Neuronal, Fetal categories

Summaries for Partial Agenesis of Corpus Callosum

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 Agenesis of the corpus callosum (ACC) is a rare birth defect (congenital disorder) in which there is a... more...

MalaCards: Partial Agenesis of Corpus Callosum, also known as severe intellectual retardation and intractable seizures, is related to corpus callosum agenesis and leopard syndrome, and has symptoms including seizures/epilepsy/absences/spasms/status epilepticus, intellectual deficit/mental/psychomotor retardation/learning disability and x-linked recessive inheritance. An important gene associated with Partial Agenesis of Corpus Callosum is L1CAM (L1 cell adhesion molecule). Affiliated tissues include brain, and related mouse phenotypes are integument and vision/eye.

Description from OMIM:47 304100

Aliases & Classifications for Partial Agenesis of Corpus Callosum

Sources:
43NIH Rare Diseases, 47OMIM, 49Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Neuronal


Characteristics (Orphanet epidemiological data):

49
x-linked complicated corpus callosum dysgenesis:
Inheritance: X-linked recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

partial agenesis of corpus callosum 43
severe intellectual retardation and intractable seizures 43
x-linked complicated corpus callosum dysgenesis 49
corpus callosum, partial agenesis of 47
pacc 43


External Ids:

OMIM47 304100
ICD10 via Orphanet26 Q04.8

Related Diseases for Partial Agenesis of Corpus Callosum

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Partial Agenesis of Corpus Callosum via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1corpus callosum agenesis10.7
2leopard syndrome10.3
3acrocallosal syndrome10.3
4focal glomerulosclerosis10.3
5sakati syndrome10.3
6cerebellar agenesis10.3
7cerebellar hypoplasia10.3
8klebsiella10.0
9mental retardation10.0L1CAM
10paraplegia10.0L1CAM

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



Diseases related to partial agenesis of corpus callosum

Clinical Features for Partial Agenesis of Corpus Callosum

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

304100

Clinical synopsis from OMIM:

304100

Symptoms:

49 (show all 8)
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • x-linked recessive inheritance
  • microcephaly
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • hypertonia/spasticity/rigidity/stiffness
  • muscle weakness/flaccidity
  • dolichocolon/megacolon/megadolichocolon/hirschsprung's disease

Drugs & Therapeutics for Partial Agenesis of Corpus Callosum

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Partial Agenesis of Corpus Callosum

Drug clinical trials:

Search ClinicalTrials for Partial Agenesis of Corpus Callosum

Search NIH Clinical Center for Partial Agenesis of Corpus Callosum

Search CenterWatch for Partial Agenesis of Corpus Callosum

Genetic Tests for Partial Agenesis of Corpus Callosum

Anatomical Context for Partial Agenesis of Corpus Callosum

Sources:
33MalaCards
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MalaCards organs/tissues related to Partial Agenesis of Corpus Callosum:

33
Brain

Animal Models for Partial Agenesis of Corpus Callosum or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Partial Agenesis of Corpus Callosum:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107719.1SLC12A6, L1CAM
2MP:00053919.0SLC12A6, L1CAM
3MP:00053908.8SLC12A6, L1CAM

Publications for Partial Agenesis of Corpus Callosum

Genetic Variations for Partial Agenesis of Corpus Callosum

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Partial Agenesis of Corpus Callosum:

63
id Symbol AA change Variation SNP ID
1L1CAMp.Pro240LeuVAR_003928

Expression for genes affiliated with Partial Agenesis of Corpus Callosum

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Partial Agenesis of Corpus Callosum

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

Pathways for genes affiliated with Partial Agenesis of Corpus Callosum

Compounds for genes affiliated with Partial Agenesis of Corpus Callosum

GO Terms for genes affiliated with Partial Agenesis of Corpus Callosum

Products for genes affiliated with Partial Agenesis of Corpus Callosum

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Partial Agenesis of Corpus Callosum

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet