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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Wikipedia:65 Agenesis of the corpus callosum (ACC) is a rare birth defect (congenital disorder) in which there is a... more...

MalaCards based summary: Partial Agenesis of Corpus Callosum, also known as severe intellectual retardation and intractable seizures, is related to focal segmental glomerulosclerosis 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 cerebellum.

Description from OMIM:46 304100

Aliases & Classifications for Partial Agenesis of Corpus Callosum

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Sources:
42NIH Rare Diseases, 62UMLS, 46OMIM, 48Orphanet, 26ICD10 via Orphanet
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Partial Agenesis of Corpus Callosum, Aliases & Descriptions:

Name: Partial Agenesis of Corpus Callosum 42 62
Severe Intellectual Retardation and Intractable Seizures 42
X-Linked Complicated Corpus Callosum Dysgenesis 48
 
Corpus Callosum, Partial Agenesis of 46
Pacc 42


Classifications:

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


External Ids:

OMIM46 304100
ICD10 via Orphanet26 Q04.8

Related Diseases for Partial Agenesis of Corpus Callosum

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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
2leopard syndrome10.3
3acrocallosal syndrome10.3
4sakati syndrome10.3
5agenesis of the corpus callosum10.3
6aspergillosis10.1
7dysentery10.1
8pneumonia10.1
9klebsiella10.1

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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Symptoms by clinical synopsis from OMIM:

304100

Clinical features from OMIM:

304100

Symptoms:

48 (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

HPO human phenotypes related to Partial Agenesis of Corpus Callosum:

(show all 18)
id Description Frequency HPO Source Accession
1 seizures hallmark (90%) HP:0001250
2 cognitive impairment hallmark (90%) HP:0100543
3 microcephaly typical (50%) HP:0000252
4 hypertonia typical (50%) HP:0001276
5 muscle weakness typical (50%) HP:0001324
6 aplasia/hypoplasia of the cerebellum typical (50%) HP:0007360
7 aganglionic megacolon occasional (7.5%) HP:0002251
8 hydrocephalus HP:0000238
9 microcephaly HP:0000252
10 intellectual disability HP:0001249
11 seizures HP:0001250
12 spasticity HP:0001257
13 cerebellar hypoplasia HP:0001321
14 partial agenesis of the corpus callosum HP:0001338
15 x-linked inheritance HP:0001417
16 abnormal facial shape HP:0001999
17 aganglionic megacolon HP:0002251
18 inferior vermis hypoplasia HP:0007068

Drugs & Therapeutics for Partial Agenesis of Corpus Callosum

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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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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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Publications for Partial Agenesis of Corpus Callosum

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Articles related to Partial Agenesis of Corpus Callosum:

idTitleAuthorsYear
1
Partial agenesis of corpus callosum--case study. (24779261)
2014
2
Partial agenesis of corpus callosum in Sanjad-Sakati syndrome (p-ACC). (23041407)
2012
3
Ocular findings in pediatric patients with partial agenesis of corpus callosum. (19791713)
2010
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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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:

6
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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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet