MCID: MCR096
MIFTS: 18

Macrocephaly/autism Syndrome malady

Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases categories
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Summaries for Macrocephaly/autism Syndrome

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MalaCards based summary: Macrocephaly/autism Syndrome, is also known as macrocephaly-autism syndrome and has symptoms including An important gene associated with Macrocephaly/autism Syndrome is PTEN (phosphatase and tensin homolog).

Description from OMIM:46 605309

Aliases & Classifications for Macrocephaly/autism Syndrome

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Macrocephaly/autism Syndrome, Aliases & Descriptions:

Name: Macrocephaly/autism Syndrome 20 22 46 62
 
Macrocephaly-Autism Syndrome 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM46 605309

Related Diseases for Macrocephaly/autism Syndrome

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Symptoms for Macrocephaly/autism Syndrome

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Symptoms by clinical synopsis from OMIM:

605309

Clinical features from OMIM:

605309

HPO human phenotypes related to Macrocephaly/autism Syndrome:

(show all 11)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 broad forehead HP:0000337
3 long philtrum HP:0000343
4 autism HP:0000717
5 global developmental delay HP:0001263
6 obesity HP:0001513
7 frontal bossing HP:0002007
8 short nose HP:0003196
9 biparietal narrowing HP:0004422
10 depressed nasal bridge HP:0005280
11 postnatal macrocephaly HP:0005490

Drugs & Therapeutics for Macrocephaly/autism Syndrome

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Drug clinical trials:

Search ClinicalTrials for Macrocephaly/autism Syndrome

Search NIH Clinical Center for Macrocephaly/autism Syndrome

Genetic Tests for Macrocephaly/autism Syndrome

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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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Variations for Macrocephaly/autism Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Macrocephaly/autism Syndrome:

64
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:

6
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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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
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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet