PACC
MCID: PRT047
MIFTS: 27

Partial Agenesis of Corpus Callosum (PACC) malady

Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases categories
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Summaries for Partial Agenesis of Corpus Callosum

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Sources:
65Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:65 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 focal segmental glomerulosclerosis 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.

Description from OMIM:47 304100

Aliases & Classifications for Partial Agenesis of Corpus Callosum

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Sources:
43NIH Rare Diseases, 47OMIM, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

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


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

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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
1focal segmental glomerulosclerosis10.3
2acrocallosal syndrome10.3
3leopard syndrome10.3
4cerebellar hypoplasia10.3
5ring chromosome 610.3
6sakati syndrome10.3
7dysentery10.0
8pneumonia10.0
9klebsiella10.0

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



Diseases related to partial agenesis of corpus callosum

Symptoms for Partial Agenesis of Corpus Callosum

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

304100

Clinical features from OMIM:

304100

Symptoms:

49 (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:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Partial Agenesis of Corpus Callosum

Search NIH Clinical Center for Partial Agenesis of Corpus Callosum

Genetic Tests for Partial Agenesis of Corpus Callosum

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Anatomical Context for Partial Agenesis of Corpus Callosum

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

33
Brain, Cerebellum

Animal Models for Partial Agenesis of Corpus Callosum or affiliated genes

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Publications for Partial Agenesis of Corpus Callosum

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52PubMed
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Articles related to Partial Agenesis of Corpus Callosum:

idTitleAuthorsYear
1
Partial agenesis of corpus callosum in Sanjad-Sakati syndrome (p-ACC). (23041407)
2012
2
Ocular findings in pediatric patients with partial agenesis of corpus callosum. (19791713)
2010
3
Prenatal diagnosis of ring chromosome 6 in a fetus with cerebellar hypoplasia and partial agenesis of corpus callosum: case report and review of the literature. (16053913)
2005
4
Partial agenesis of corpus callosum in LEOPARD syndrome. (10583620)
1999
5
Polysyndactyly and trigonocephaly with partial agenesis of corpus callosum: an example of the variable clinical spectrum of the Acrocallosal syndrome? (9220202)
1997
6
Polysyndactyly and trigonocephaly with partial agenesis of corpus callosum. (8723570)
1996
7
HEREDITARY PARTIAL AGENESIS OF CORPUS CALLOSUM; BIOCHEMICAL AND PATHOLOGICAL STUDIES. (14158525)
1964

Variations for Partial Agenesis of Corpus Callosum

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Partial Agenesis of Corpus Callosum:

64
id Symbol AA change Variation ID SNP ID
1L1CAMp.Pro240LeuVAR_003928

Clinvar genetic disease variations for Partial Agenesis of Corpus Callosum:

1
id Gene Name 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 Partial Agenesis of Corpus Callosum

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2BioGPS, 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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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet