MCID: MCR096
MIFTS: 23

Macrocephaly/autism Syndrome malady

Categories: Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Macrocephaly/autism Syndrome

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Aliases & Descriptions for Macrocephaly/autism Syndrome:

Name: Macrocephaly/autism Syndrome 50 23 68 12 66
Autism with Macrocephaly 23 25
 
Macrocephaly-Intellectual Disability-Autism Syndrome 52
Mcephas 68

Characteristics:

Orphanet epidemiological data:

52
macrocephaly-intellectual disability-autism syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

62
macrocephaly/autism syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 605309
Orphanet52 ORPHA210548
MedGen35 C1854416

Summaries for Macrocephaly/autism Syndrome

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UniProtKB/Swiss-Prot:68 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, also known as autism with macrocephaly, is related to hepatocellular carcinoma and vater association with macrocephaly and ventriculomegaly, and has symptoms including broad forehead, long philtrum and autism. An important gene associated with Macrocephaly/autism Syndrome is PTEN (Phosphatase And Tensin Homolog).

Description from OMIM:50 605309

Related Diseases for Macrocephaly/autism Syndrome

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Diseases related to Macrocephaly/autism Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hepatocellular carcinoma9.5HEPACAM, PTEN
2vater association with macrocephaly and ventriculomegaly9.2HEPACAM, PTEN

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 broad forehead HP:0000337
2 long philtrum HP:0000343
3 autism HP:0000717
4 global developmental delay HP:0001263
5 obesity HP:0001513
6 frontal bossing HP:0002007
7 short nose HP:0003196
8 biparietal narrowing HP:0004422
9 depressed nasal bridge HP:0005280
10 postnatal macrocephaly HP:0005490

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 Syndrome25 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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UniProtKB/Swiss-Prot genetic disease variations for Macrocephaly/autism Syndrome:

68
id Symbol AA change Variation ID SNP ID
1PTENp.His93ArgVAR_032634rs121909238
2PTENp.Phe241SerVAR_032636rs121909240
3PTENp.Asp252GlyVAR_032637rs121909239

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 pathogenicrs863224909GRCh38Chr 10, 87960952: 87960952
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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet