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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/OMIM/172700
http://purl.bioontology.org/ontology/OMIM/172700
|
|---|---|
| Preferred Name | PICK DISEASE OF BRAIN |
| Synonyms |
DEMENTIA WITH LOBAR ATROPHY AND NEURONAL CYTOPLASMIC INCLUSIONS
LOBAR ATROPHY OF BRAIN
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
DEMENTIA WITH LOBAR ATROPHY AND NEURONAL CYTOPLASMIC INCLUSIONS
LOBAR ATROPHY OF BRAIN
|
|---|---|
| prefLabel |
PICK DISEASE OF BRAIN
|
| Gene Symbol |
MTBT1
MSTD
DDPAC
MAPT
|
| notation |
172700
|
| Scope Statement |
Phenotypic overlap with frontotemporal dementia (600274) [MISCELLANEOUS]
Caused by mutation in the microtubule-associated tau protein gene (MAPT, 157140.0011) [MOLECULAR BASIS]
Caused by mutation in the presenilin-1 gene (PSEN1, 104311.0027) [MOLECULAR BASIS]
|
| OMIM MimType Value |
pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type |
3
|
| type | |
| Has manifestation |
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|
| MIMTYPEMEANING |
Phenotype description, molecular basis known.
|
| Gene Locus |
17q21.1
|
| tui |
T047
|
| cui |
C0236642
|
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