Amme Complex (ATS-MR)

External Ids:

OMIM 57 300194 MedGen 42 C1846242 MeSH 44 D009394

SNOMED-CT via HPO 69 228156007 247578003 91138005 178935009 191169008 250242004 more UMLS 73 C1846242

UniProtKB/Swiss-Prot : ⁷⁵ 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, x-linked and alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome. An important gene associated with Amme Complex is AMMEC (Alport Syndrome, Mental Retardation, Midface Hypoplasia, And Elliptocytosis). Affiliated tissues include ovary, 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.