Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/619196
http://purl.bioontology.org/ontology/OMIM/619196
|
|---|---|
| Preferred Name | DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY |
| Synonyms |
DEAPLE
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | DEAPLE
|
|---|---|
| prefLabel | DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY
|
| Gene Symbol |
CMTRIB
LEPID
DFNB89
KARS
KARS1
DEAPLE
See more
See less
|
| Scope Statement | Caused by mutation in the lysyl-tRNA synthetase 1 gene (KARS1, 601421.0007) [MOLECULAR BASIS]
Onset of deafness in infancy [MISCELLANEOUS]
Premature death (in some patients) [MISCELLANEOUS]
Variable phenotype [MISCELLANEOUS]
Neurologic decline in the second or third decades [MISCELLANEOUS]
Progressive disorder [MISCELLANEOUS]
See more
See less
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T047
|
| Gene Locus | 16q22.2-q22.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 619196
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5543087
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |