Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Preferred Name

PICK DISEASE OF BRAIN

Synonyms

DEMENTIA WITH LOBAR ATROPHY AND NEURONAL CYTOPLASMIC INCLUSIONS

LOBAR ATROPHY OF BRAIN

ID

http://purl.bioontology.org/ontology/OMIM/172700

altLabel

DEMENTIA WITH LOBAR ATROPHY AND NEURONAL CYTOPLASMIC INCLUSIONS

LOBAR ATROPHY OF BRAIN

cui

C0236642

Gene Locus

17q21.1

Gene Symbol

MTBT1

MSTD

DDPAC

MAPT

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU000781

http://purl.bioontology.org/ontology/OMIM/MTHU003256

http://purl.bioontology.org/ontology/OMIM/MTHU010666

http://purl.bioontology.org/ontology/OMIM/MTHU016238

http://purl.bioontology.org/ontology/OMIM/MTHU006307

http://purl.bioontology.org/ontology/OMIM/MTHU003268

http://purl.bioontology.org/ontology/OMIM/MTHU016235

http://purl.bioontology.org/ontology/OMIM/MTHU016233

http://purl.bioontology.org/ontology/OMIM/MTHU016239

http://purl.bioontology.org/ontology/OMIM/MTHU000780

http://purl.bioontology.org/ontology/OMIM/MTHU016241

http://purl.bioontology.org/ontology/OMIM/MTHU000539

http://purl.bioontology.org/ontology/OMIM/MTHU006526

http://purl.bioontology.org/ontology/OMIM/MTHU006539

http://purl.bioontology.org/ontology/OMIM/MTHU016232

http://purl.bioontology.org/ontology/OMIM/MTHU016237

http://purl.bioontology.org/ontology/OMIM/MTHU003271

http://purl.bioontology.org/ontology/OMIM/MTHU006536

http://purl.bioontology.org/ontology/OMIM/MTHU006535

http://purl.bioontology.org/ontology/OMIM/MTHU016234

http://purl.bioontology.org/ontology/OMIM/MTHU006534

http://purl.bioontology.org/ontology/OMIM/MTHU016236

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

172700

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

PICK DISEASE OF BRAIN

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]

tui

T047

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