PACC
MCID: PRT047
MIFTS: 27

Partial Agenesis of Corpus Callosum (PACC) malady

Neuronal diseases, Fetal diseases categories

Summaries for Partial Agenesis of Corpus Callosum

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Sources:
63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 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 leopard syndrome and acrocallosal syndrome, and has symptoms including dolichocolon/megacolon/megadolichocolon/hirschsprung's disease, muscle weakness/flaccidity and hypertonia/spasticity/rigidity/stiffness. An important gene associated with Partial Agenesis of Corpus Callosum is L1CAM (L1 cell adhesion molecule). Affiliated tissues include brain and cerebellum, and related mouse phenotypes are integument and vision/eye.

Description from OMIM:46 304100

Aliases & Classifications for Partial Agenesis of Corpus Callosum

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Sources:
42NIH Rare Diseases, 46OMIM, 48Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 42
severe intellectual retardation and intractable seizures 42
x-linked complicated corpus callosum dysgenesis 48
corpus callosum, partial agenesis of 46
pacc 42


External Ids:

OMIM46 304100
ICD10 via Orphanet26 Q04.8

Related Diseases for Partial Agenesis of Corpus Callosum

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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
1leopard syndrome10.3
2acrocallosal syndrome10.3
3focal glomerulosclerosis10.3
4dysentery10.0
5pneumonia10.0
6mental retardation10.0L1CAM
7paraplegia10.0L1CAM

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

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

304100

Clinical synopsis from OMIM:

304100

Symptoms:

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

Drugs & Therapeutics for Partial Agenesis of Corpus Callosum

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Partial Agenesis of Corpus Callosum

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Anatomical Context for Partial Agenesis of Corpus Callosum

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32MalaCards
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MalaCards organs/tissues related to Partial Agenesis of Corpus Callosum:

32
Brain, Cerebellum

Animal Models for Partial Agenesis of Corpus Callosum or affiliated genes

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Sources:
36MGI
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MGI Mouse Phenotypes related to Partial Agenesis of Corpus Callosum:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107719.1SLC12A6, L1CAM
2MP:00053919.0SLC12A6, L1CAM
3MP:00053908.8SLC12A6, L1CAM

Publications for Partial Agenesis of Corpus Callosum

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Genetic Variations for Partial Agenesis of Corpus Callosum

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Partial Agenesis of Corpus Callosum:

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

Expression for genes affiliated with Partial Agenesis of Corpus Callosum

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

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Pathways for genes affiliated with Partial Agenesis of Corpus Callosum

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Compounds for genes affiliated with Partial Agenesis of Corpus Callosum

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GO Terms for genes affiliated with Partial Agenesis of Corpus Callosum

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Products for genes affiliated with Partial Agenesis of Corpus Callosum

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Partial Agenesis of Corpus Callosum

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet