Macrocephaly/autism Syndrome malady
Categories: Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases
Aliases & Descriptions for Macrocephaly/autism Syndrome:
Orphanet epidemiological data:52
macrocephaly-intellectual disability-autism syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Fetal diseases, Rare diseases
Anatomical: Neuronal diseases
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
Diseases related to Macrocephaly/autism Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:
HPO human phenotypes related to Macrocephaly/autism Syndrome:(show all 10)
UniProtKB/Swiss-Prot genetic disease variations for Macrocephaly/autism Syndrome:68
Clinvar genetic disease variations for Macrocephaly/autism Syndrome:5 (show all 12)
Search GEO for disease gene expression data for Macrocephaly/autism Syndrome.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet