Amme Complex (ATS-MR)

External Ids:

OMIM 58 300194 MeSH 45 D009394 MedGen 43 C1846242

SNOMED-CT via HPO 70 178935009 191169008 228156007 247578003 250242004 91138005 more UMLS 74 C1846242

UniProtKB/Swiss-Prot : ⁷⁶ Alport syndrome with mental retardation, midface hypoplasia and elliptocytosis: A X-linked contiguous gene deletion syndrome characterized by glomerulonephritis, sensorineural hearing loss, mental retardation, midface hypoplasia and elliptocytosis.

MalaCards based summary : Amme Complex, also known as alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis, is related to alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome and alport syndrome. An important gene associated with Amme Complex is AMMEC (Alport Syndrome, Mental Retardation, Midface Hypoplasia, And Elliptocytosis). Affiliated tissues include ovary and spinal cord, and related phenotypes are intellectual disability and midface retrusion

Description from OMIM: 300194

Clinical features from OMIM:

300194

Search Clinical Trials , NIH Clinical Center for Amme Complex

Search GEO for disease gene expression data for Amme Complex.