MCID: MCR096
MIFTS: 25

Macrocephaly/autism Syndrome malady

Neuronal diseases, Fetal diseases categories

Summaries for Macrocephaly/autism Syndrome

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46OMIM, 32MalaCards
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MalaCards: Macrocephaly/autism Syndrome, also known as macrocephaly-autism syndrome, is related to acute leukemia and bannayan-riley-ruvalcaba syndrome. An important gene associated with Macrocephaly/autism Syndrome is PTEN (phosphatase and tensin homolog), and among its related pathways is Apoptotic Pathways in Synovial Fibroblasts. The compound paraffin have been mentioned in the context of this disorder.

Description from OMIM:46 605309

Aliases & Classifications for Macrocephaly/autism Syndrome

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Sources:
20GeneTests, 22GTR, 46OMIM, 60UMLS, 48Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
macrocephaly-autism syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

macrocephaly/autism syndrome 20 22 46 60
macrocephaly-autism syndrome 48


External Ids:

OMIM46 605309

Related Diseases for Macrocephaly/autism Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Macrocephaly/autism Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1acute leukemia10.0TEP1
2bannayan-riley-ruvalcaba syndrome10.0PTEN
3cowden disease10.0PTEN
4endometrial carcinoma10.0PTEN, TEP1
5stomach cancer10.0TEP1, PTEN
6squamous cell carcinoma10.0PTEN, TEP1
7malignant glioma10.0TEP1, PTEN

Graphical network of diseases related to Macrocephaly/autism Syndrome:



Diseases related to macrocephaly/autism syndrome

Clinical Features for Macrocephaly/autism Syndrome

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46OMIM
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Clinical features from OMIM:

605309

Clinical synopsis from OMIM:

605309

Drugs & Therapeutics for Macrocephaly/autism Syndrome

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

Search CenterWatch for Macrocephaly/autism Syndrome

Drug clinical trials:

Search ClinicalTrials for Macrocephaly/autism Syndrome

Search NIH Clinical Center for Macrocephaly/autism Syndrome

Search CenterWatch for Macrocephaly/autism Syndrome

Genetic Tests for Macrocephaly/autism Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Macrocephaly/autism Syndrome:

id Genetic test Affiliating Genes
1 Macrocephaly/autism Syndrome20 22 PTEN

Anatomical Context for Macrocephaly/autism Syndrome

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Animal Models for Macrocephaly/autism Syndrome or affiliated genes

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Publications for Macrocephaly/autism Syndrome

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Genetic Variations for Macrocephaly/autism Syndrome

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Macrocephaly/autism Syndrome:

62
id Symbol AA change Variation ID SNP ID
1PTENp.His93ArgVAR_032634
2PTENp.Phe241SerVAR_032636
3PTENp.Asp252GlyVAR_032637

Expression for genes affiliated with Macrocephaly/autism Syndrome

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Macrocephaly/autism Syndrome

Search GEO for disease gene expression data for Macrocephaly/autism Syndrome.

Pathways for genes affiliated with Macrocephaly/autism Syndrome

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51QIAGEN
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Pathways related to Macrocephaly/autism Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.1PTEN, TEP1

Compounds for genes affiliated with Macrocephaly/autism Syndrome

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44Novoseek
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Compounds related to Macrocephaly/autism Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1paraffin449.1PTEN, TEP1

GO Terms for genes affiliated with Macrocephaly/autism Syndrome

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Products for genes affiliated with Macrocephaly/autism Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Macrocephaly/autism Syndrome

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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