Details of Disease

General Information of Disease (ID: DISUHMAR)

Disease Name Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
Synonyms
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis; MFHIEN; midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis; MFHIEN; midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, X-linked recessive
Disease Hierarchy
DISYKSRF: Genetic disease
DIS8ORO3: Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
DISUHMAR: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
Disease Identifiers
MONDO ID
MONDO_0010516
UMLS CUI
C4310810
OMIM ID
300990
MedGen ID
934777

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
AMMECR1 OTWMQ67T Strong X-linked [1]
------------------------------------------------------------------------------------

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.