Details of Disease

General Information of Disease (ID: DISBH2UH)

Disease Name Autosomal recessive nonsyndromic hearing loss 49
Synonyms
autosomal recessive nonsyndromic deafness type 49; autosomal recessive nonsyndromic deafness 49; autosomal recessive deafness 49; deafness, autosomal recessive type 49; MARVELD2 autosomal recessive nonsyndromic deafness; autosomal recessive nonsyndromic deafness caused by mutation in MARVELD2; deafness, autosomal recessive 49; DFNB49; autosomal recessive nonsyndromic hearing loss 49
Definition An autosomal recessive disorder caused by mutations in the MARVELD2 gene, encoding MARVEL domain-containing protein 2. The condition is characterized by profound prelingual deafness.
Disease Hierarchy
DIS8G9R9: Hearing loss, autosomal recessive
DISBH2UH: Autosomal recessive nonsyndromic hearing loss 49
Disease Identifiers
MONDO ID
MONDO_0012420
MESH ID
C565717
UMLS CUI
C1857811
OMIM ID
610153
MedGen ID
346670

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
MARVELD2 OTKB96L5 Strong Autosomal recessive [1]
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References

1 Tricellulin is a tight-junction protein necessary for hearing. Am J Hum Genet. 2006 Dec;79(6):1040-51. doi: 10.1086/510022. Epub 2006 Oct 31.