MCID: MCR096
MIFTS: 14

Macrocephaly/autism Syndrome malady

Neuronal, Fetal categories

Summaries for Macrocephaly/autism Syndrome

Sources:
47OMIM, 33MalaCards
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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:47 605309

Aliases & Classifications for Macrocephaly/autism Syndrome

Sources:
20GeneTests, 22GTR, 47OMIM, 61UMLS, 49Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
macrocephaly-autism syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

macrocephaly/autism syndrome 20 22 47 61
macrocephaly-autism syndrome 49


External Ids:

OMIM47 605309

Related Diseases for Macrocephaly/autism Syndrome

Sources:
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 carcinoma10.0TEP1, PTEN
5stomach cancer10.0PTEN, TEP1
6squamous cell carcinoma10.0PTEN, TEP1
7malignant glioma10.0PTEN, TEP1

Graphical network of diseases related to Macrocephaly/autism Syndrome:



Diseases related to macrocephaly/autism syndrome

Clinical Features for Macrocephaly/autism Syndrome

Sources:
47OMIM
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Clinical features from OMIM:

605309

Clinical synopsis from OMIM:

605309

Drugs & Therapeutics for Macrocephaly/autism Syndrome

Sources:
5CenterWatch, 42NIH 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

Sources:
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

Animal Models for Macrocephaly/autism Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Macrocephaly/autism Syndrome

Genetic Variations for Macrocephaly/autism Syndrome

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Macrocephaly/autism Syndrome:

63
id Symbol AA change Variation SNP ID
1PTENp.His93ArgVAR_032634
2PTENp.Phe241SerVAR_032636
3PTENp.Asp252GlyVAR_032637

Expression for genes affiliated with Macrocephaly/autism Syndrome

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

Sources:
52QIAGEN
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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

Sources:
45Novoseek
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Compounds related to Macrocephaly/autism Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1paraffin459.1PTEN, TEP1

GO Terms for genes affiliated with Macrocephaly/autism Syndrome

Products for genes affiliated with Macrocephaly/autism Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Macrocephaly/autism Syndrome

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet