Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
Jump to:
| Id | http://purl.bioontology.org/ontology/OMIM/204200
http://purl.bioontology.org/ontology/OMIM/204200
|
|---|---|
| Preferred Name | CEROID LIPOFUSCINOSIS, NEURONAL, 3 |
| Synonyms |
JNCL
VOGT-SPIELMEYER DISEASE
NEURONAL CEROID LIPOFUSCINOSIS, JUVENILE
BATTEN DISEASE
SPIELMEYER-SJOGREN DISEASE
CLN3
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
JNCL
VOGT-SPIELMEYER DISEASE
NEURONAL CEROID LIPOFUSCINOSIS, JUVENILE
BATTEN DISEASE
SPIELMEYER-SJOGREN DISEASE
CLN3
See more
See less
|
|---|---|
| prefLabel | CEROID LIPOFUSCINOSIS, NEURONAL, 3
|
| Gene Symbol |
CLN3
BTS
|
| notation | 204200
|
| Scope Statement | Caused by mutation in the CLN3 lysosomal/endosomal transmembrane protein, Battenin gene (CLN3, 607042.0001) [MOLECULAR BASIS]
Variable severity, some patients have a protracted course with little neurologic involvement [MISCELLANEOUS]
Onset at 4 to 10 years [MISCELLANEOUS]
Death at 20 to 40 years [MISCELLANEOUS]
1.02 kb genomic deletion in 85% of Batten disease alleles worldwide [MISCELLANEOUS]
|
| OMIM MimType Value | pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
|
| type | |
| Has manifestation |
See more
See less
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| Gene Locus | 16p12.1
|
| tui | T047
|
| cui | C0751383
|
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |