Details of Disease

General Information of Disease (ID: DISD2I4K)

Disease Name Deafness with labyrinthine aplasia, microtia, and microdontia
Synonyms
deafness with labyrinthine aplasia microtia and microdontia (LAMM); deafness congenital with inner ear agenesis microtia and microdontia; congenital deafness with inner ear agenesis microtia and microdontia; deafness, congenital, with labyrinthine aplasia, microtia, and microdontia; deafness, congenital, with inner EAR agenesis, microtia, and microdontia; deafness with Lamm; microdontia-type I microtia-deafness syndrome; deafness with labyrinthine aplasia, microtia, and microdontia; LAMM syndrome; deafness, congenital with inner ear agenesis, microtia, and microdontia
Definition Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome.
Disease Hierarchy
DISYKSRF: Genetic disease
DISD2I4K: Deafness with labyrinthine aplasia, microtia, and microdontia
Disease Identifiers
MONDO ID
MONDO_0012541
MESH ID
C565195
UMLS CUI
C1853144
OMIM ID
610706
MedGen ID
342803
Orphanet ID
90024
SNOMED CT ID
702360007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FGF3 OT9PK2SI Definitive Autosomal recessive [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.