Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/606693
http://purl.bioontology.org/ontology/OMIM/606693
|
|---|---|
| Preferred Name | KUFOR-RAKEB SYNDROME |
| Synonyms |
PALLIDOPYRAMIDAL DEGENERATION WITH SUPRANUCLEAR UPGAZE PARESIS AND DEMENTIA
PARK9
KRPPD
KRS
PARKINSON DISEASE 9, AUTOSOMAL RECESSIVE, JUVENILE-ONSET
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
PALLIDOPYRAMIDAL DEGENERATION WITH SUPRANUCLEAR UPGAZE PARESIS AND DEMENTIA
PARK9
KRPPD
KRS
PARKINSON DISEASE 9, AUTOSOMAL RECESSIVE, JUVENILE-ONSET
|
|---|---|
| prefLabel | KUFOR-RAKEB SYNDROME
|
| Gene Symbol |
ATP13A2
SPG78
KRPPD
PARK9
|
| Scope Statement | Rapidly progressive (6-24 months) [MISCELLANEOUS]
Average age of onset 13 years [MISCELLANEOUS]
Favorable initial response to L-DOPA [MISCELLANEOUS]
Therapy-induced dyskinesias [MISCELLANEOUS]
Rapidly progressive (6-24 months) (in some patients) [MISCELLANEOUS]
Caused by mutation in the ATPase 13A2 gene (ATP13A2, 610513.0001) [MOLECULAR BASIS]
Variable neurologic phenotype [MISCELLANEOUS]
See more
See less
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T047
|
| Gene Locus | 1p36
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 606693
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1847640
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |