Details of Disease

General Information of Disease (ID: DIS8ORO3)

Disease Name Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
Synonyms
Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis; chromosome Xq22.3 telomeric deletion syndrome; Alport syndrome, intellectual disability, midface hypoplasia, and elliptocytosis; Ats-Mr; AMME syndrome; ATS-MR; AMME complex
Disease Hierarchy
DIS6SVEE: Syndromic disease
DIS8ORO3: Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
Disease Identifiers
MONDO ID
MONDO_0010263
MESH ID
C564570
UMLS CUI
C1846242
OMIM ID
300194
MedGen ID
337424
Orphanet ID
86818
SNOMED CT ID
720982007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
AMMECR1 OTWMQ67T Supportive X-linked [1]
ACSL4 OTI71MUJ moderate Biomarker [2]
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References

1 AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis. J Med Genet. 2017 Apr;54(4):269-277. doi: 10.1136/jmedgenet-2016-104100. Epub 2016 Nov 3.
2 FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation. Nat Genet. 2002 Apr;30(4):436-40. doi: 10.1038/ng857. Epub 2002 Mar 11.