MCID: MCR096
MIFTS: 17

Macrocephaly/autism Syndrome malady

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

Summaries for Macrocephaly/autism Syndrome

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Sources:
48OMIM, 34MalaCards
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MalaCards: Macrocephaly/autism Syndrome, is also known as macrocephaly-autism syndrome An important gene associated with Macrocephaly/autism Syndrome is PTEN (phosphatase and tensin homolog).

Description from OMIM:48 605309

Aliases & Classifications for Macrocephaly/autism Syndrome

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Sources:
21GeneTests, 23GTR, 48OMIM, 50Orphanet, 63UMLS
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
macrocephaly-autism syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

macrocephaly/autism syndrome 21 23 48 63
macrocephaly-autism syndrome 50


External Ids:

OMIM48 605309

Related Diseases for Macrocephaly/autism Syndrome

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Symptoms for Macrocephaly/autism Syndrome

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48OMIM
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Symptoms by clinical synopsis from OMIM:

605309

Clinical features from OMIM:

605309

Drugs & Therapeutics for Macrocephaly/autism Syndrome

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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21GeneTests, 23GTR
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Genetic tests related to Macrocephaly/autism Syndrome:

id Genetic test Affiliating Genes
1 Macrocephaly/autism Syndrome21 23 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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Variations for Macrocephaly/autism Syndrome

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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 Macrocephaly/autism Syndrome:

65
id Symbol AA change Variation ID SNP ID
1PTENp.His93ArgVAR_032634
2PTENp.Phe241SerVAR_032636
3PTENp.Asp252GlyVAR_032637

Clinvar genetic disease variations for Macrocephaly/autism Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1PTENNM_000314.4(PTEN): c.500C> A (p.Thr167Asn)single nucleotide variantPathogenicrs397514559GRCh37Chr 10, 89711882: 89711882
2PTENNM_000314.4(PTEN): c.392C> T (p.Thr131Ile)single nucleotide variantPathogenicrs397514560GRCh37Chr 10, 89692908: 89692908
3PTENPTEN, 1-BP INS, AinsertionPathogenic
4PTENNM_000314.4(PTEN): c.388C> T (p.Arg130Ter)single nucleotide variantPathogenicrs121909224GRCh37Chr 10, 89692904: 89692904
5PTENNM_000314.4(PTEN): c.278A> G (p.His93Arg)single nucleotide variantPathogenicrs121909238GRCh37Chr 10, 89692794: 89692794
6PTENNM_000314.4(PTEN): c.755A> G (p.Asp252Gly)single nucleotide variantPathogenicrs121909239GRCh37Chr 10, 89717730: 89717730
7PTENNM_000314.4(PTEN): c.722T> C (p.Phe241Ser)single nucleotide variantPathogenicrs121909240GRCh37Chr 10, 89717697: 89717697
8PTENPTEN, 1-BP INS, 519TinsertionPathogenic

Expression for genes affiliated with Macrocephaly/autism Syndrome

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Sources:
2BioGPS, 16Gene 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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Compounds for genes affiliated with Macrocephaly/autism Syndrome

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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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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