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autosomal dominant nonsyndromic deafness 12
Summary
- Synonym
-
- DFNA12
- DFNA8
- autosomal dominant deafness 12
- autosomal dominant deafness 8
- Definition
- An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and mid-frequency hearing loss and has_material_basis_in mutation in the TECTA gene on chromosome 11q23.
- Super Class
- autosomal dominant nonsyndromic deafness
External Links
- Disease Ontology
- DOID:0110544
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 50 | ACO2 | aconitase 2 | |
| 51 | ACOX1 | acyl-CoA oxidase 1 | |
| 410 | ARSA | arylsulfatase A | |
| 5660 | PSAP | prosaposin | |
| 7007 | TECTA | tectorin alpha | |
| 22856 | CHSY1 | chondroitin sulfate synthase 1 | |
| 25839 | COG4 | component of oligomeric golgi complex 4 | |
| 135228 | CD109 | CD109 molecule | |
| 146183 | OTOA | otoancorin | |
| 220074 | LRTOMT | leucine rich transmembrane and O-methyltransferase domain containing |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O75443 | Alpha-tectorin | |
| P07602 | Prosaposin | |
| P15289 | Arylsulfatase A | |
| Q15067 | Peroxisomal acyl-coenzyme A oxidase 1 | |
| Q6YHK3 | CD109 antigen | |
| Q6ZRI0 | Otogelin | |
| Q7RTW8 | Otoancorin | |
| Q86X52 | Chondroitin sulfate synthase 1 | |
| Q99798 | Aconitate hydratase, mitochondrial |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000407 | Sensorineural hearing impairment |
