PACC
MCID: PRT047
MIFTS: 27

Partial Agenesis of Corpus Callosum (PACC) malady

Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases categories

Summaries for Partial Agenesis of Corpus Callosum

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Sources:
66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 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:48 304100

Aliases & Classifications for Partial Agenesis of Corpus Callosum

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Sources:
44NIH Rare Diseases, 48OMIM, 50Orphanet, 27ICD10 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):

50
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 44
severe intellectual retardation and intractable seizures 44
x-linked complicated corpus callosum dysgenesis 50
corpus callosum, partial agenesis of 48
pacc 44


External Ids:

OMIM48 304100
ICD10 via Orphanet27 Q04.8

Related Diseases for Partial Agenesis of Corpus Callosum

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Sources:
18GeneCards, 19GeneDecks
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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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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

304100

Clinical features from OMIM:

304100

Symptoms:

50 (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:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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34MalaCards
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MalaCards organs/tissues related to Partial Agenesis of Corpus Callosum:

34
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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53PubMed
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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:
65UniProtKB/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:

65
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, 16Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet