Macrocephaly/autism Syndrome malady
Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases categories
Aliases & Descriptions for Macrocephaly/autism Syndrome:
MalaCards categories: See all MalaCards categories (disease lists)
Global: Genetic diseases, Fetal diseases, Rare diseases
Anatomical: Neuronal diseases
Characteristics (Orphanet epidemiological data):51
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal
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 macrocephaly-autism syndrome, and has symptoms including autosomal dominant inheritance, broad forehead and long philtrum. An important gene associated with Macrocephaly/autism Syndrome is PTEN (Phosphatase And Tensin Homolog).
Description from OMIM:49 605309
HPO human phenotypes related to Macrocephaly/autism Syndrome:(show all 11)
UniProtKB/Swiss-Prot genetic disease variations for Macrocephaly/autism Syndrome:67
Clinvar genetic disease variations for Macrocephaly/autism Syndrome:5 (show all 12)
Search GEO for disease gene expression data for Macrocephaly/autism Syndrome.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet