MCID: MCR096
MIFTS: 16

Macrocephaly/autism Syndrome malady

Category: Genetic diseases (common)

Aliases & Classifications for Macrocephaly/autism Syndrome

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Aliases & Descriptions for Macrocephaly/autism Syndrome:

Name: Macrocephaly/autism Syndrome 49 11 22 67 65
Autism with Macrocephaly 22 24
 
Mcephas 67

Characteristics:

HPO:

61
macrocephaly/autism syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 605309
MedGen34 C1854416
UMLS65 C1854416

Summaries for Macrocephaly/autism Syndrome

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UniProtKB/Swiss-Prot:67 Macrocephaly/autism syndrome: Patients have autism spectrum disorders and macrocephaly, with head circumferences ranging from +2.5 to +8 SD for age and sex (average head circumference +4.0 SD).

MalaCards based summary: Macrocephaly/autism Syndrome, is also known as autism with macrocephaly, and has symptoms including postnatal macrocephaly, depressed nasal bridge and biparietal narrowing. An important gene associated with Macrocephaly/autism Syndrome is PTEN (Phosphatase And Tensin Homolog).

Description from OMIM:49 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 10)
id Description Frequency HPO Source Accession
1 postnatal macrocephaly HP:0005490
2 depressed nasal bridge HP:0005280
3 biparietal narrowing HP:0004422
4 short nose HP:0003196
5 frontal bossing HP:0002007
6 obesity HP:0001513
7 global developmental delay HP:0001263
8 autism HP:0000717
9 long philtrum HP:0000343
10 broad forehead HP:0000337

Drugs & Therapeutics for Macrocephaly/autism Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Natural History Study of Individuals With Autism and Germline Heterozygous PTEN MutationsRecruitingNCT02461446

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 Syndrome22 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:

67
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:

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1PTENNM_000314.6(PTEN): c.545T> C (p.Leu182Ser)single nucleotide variantPathogenicrs794729664GRCh37Chr 10, 89711927: 89711927
2PTENNM_000314.6(PTEN): c.1048dupA (p.Thr350Asnfs)duplicationPathogenicrs797045066GRCh37Chr 10, 89725065: 89725065
3PTENNM_000314.6(PTEN): c.900delC (p.Ile300Metfs)deletionPathogenicrs797045904GRCh37Chr 10, 89720749: 89720749
4PTENNM_000314.6(PTEN): c.860C> G (p.Ser287Ter)single nucleotide variantLikely pathogenicrs863224909GRCh37Chr 10, 89720709: 89720709
5PTENNM_000314.6(PTEN): c.500C> A (p.Thr167Asn)single nucleotide variantPathogenicrs397514559GRCh37Chr 10, 89711882: 89711882
6PTENNM_000314.6(PTEN): c.392C> T (p.Thr131Ile)single nucleotide variantPathogenicrs397514560GRCh37Chr 10, 89692908: 89692908
7PTENNM_000314.6(PTEN): c.405dupA (p.Cys136Metfs)duplicationPathogenicrs398123323GRCh38Chr 10, 87933164: 87933164
8PTENNM_000314.6(PTEN): c.388C> T (p.Arg130Ter)single nucleotide variantPathogenicrs121909224GRCh37Chr 10, 89692904: 89692904
9PTENNM_000314.6(PTEN): c.278A> G (p.His93Arg)single nucleotide variantPathogenicrs121909238GRCh37Chr 10, 89692794: 89692794
10PTENNM_000314.6(PTEN): c.755A> G (p.Asp252Gly)single nucleotide variantPathogenicrs121909239GRCh37Chr 10, 89717730: 89717730
11PTENNM_000314.6(PTEN): c.722T> C (p.Phe241Ser)single nucleotide variantPathogenicrs121909240GRCh37Chr 10, 89717697: 89717697
12PTENPTEN, 1-BP INS, 519TinsertionPathogenic

Expression for genes affiliated with Macrocephaly/autism Syndrome

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

Pathways for genes affiliated with Macrocephaly/autism Syndrome

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GO Terms for genes affiliated with Macrocephaly/autism Syndrome

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Sources for Macrocephaly/autism Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet