ATS-MR
MCID: AMM001
MIFTS: 31
|
Amme Complex (ATS-MR)
Categories:
Blood diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
|
|
MalaCards integrated aliases for Amme Complex:
Characteristics:Orphanet epidemiological data:58
alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); HPO:31Classifications:
MalaCards categories:
Global: Fetal diseases Rare diseases Genetic diseases Anatomical: Neuronal diseases Blood diseases Mental diseases
ICD10:
33
Orphanet: 58
![]() ![]() ![]() |
UniProtKB/Swiss-Prot :
73
Alport syndrome with mental retardation, midface hypoplasia and elliptocytosis: An 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 and midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis. An important gene associated with Amme Complex is AMMEC (Alport Syndrome, Mental Retardation, Midface Hypoplasia, And Elliptocytosis). Affiliated tissues include lung, and related phenotypes are depressed nasal bridge and anteverted nares Disease Ontology : 12 A syndrome characterized by Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis that has material basis in hemizygous deletion of multiple genes including COL4A5, FACL4 and AMMECR1 on chromosome Xq22.3. OMIM : 56 The AMME complex is an X-linked contiguous gene deletion syndrome with features of Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis in affected males (summary by Meloni et al., 2002). (300194) |
Human phenotypes related to Amme Complex:58 31 (show all 25)
|
Cochrane evidence based reviews: alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis |
MalaCards organs/tissues related to Amme Complex:40
Lung
|
Articles related to Amme Complex:
|
|
|
|