FTD
MCID: PCK001
MIFTS: 68

Pick's Disease (FTD) malady

Neuronal category

Summaries for Pick's Disease

Sources:
43NIH Rare Diseases, 44NINDS, 47OMIM, 33MalaCards
See all sources

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NIH Rare Diseases:43 Pick’s disease is a neurological condition characterized by a slowly progressive deterioration of behavior, personality, or language. people with pick's disease have abnormal substances (called pick bodies) inside nerve cells in the damaged areas of the brain. pick bodies contain an abnormal form of a protein called tau. this protein is found in all nerve cells, but people with pick's disease have an abnormal amount or type of this protein. symptoms often present sometime in the 50s, though it can occur as early as age 20 or as late as age 80. the course of the disease varies from person to person. the underlying cause of pick's disease is unknown. in some cases, the disease runs in families. while there is no treatment to slow the progression of the disease, medications can be used to treat individual symptoms. last updated: 2/5/2013

MalaCards: Pick's Disease, also known as pick disease, is related to niemann-pick disease and niemann–pick disease. An important gene associated with Pick's Disease is MAPT (microtubule-associated protein tau), and among its related pathways are Cholesterol and Sphingolipids transport / Generic schema (normal and CF) and Alzheimers Disease Pathway. The compounds thioflavin and thioflavine s have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, spleen and brain, and related mouse phenotypes are liver/biliary system and immune system.

NINDS:44 Frontotemporal dementia (FTD) describes a clinical syndrome associated with shrinking of the frontal and temporal anterior lobes of the brain. Originally known as Pick?s disease, the name and classification of FTD has been a topic of discussion for over a century.

Description from OMIM:47 172700,600274,600795,607485

Aliases & Classifications for Pick's Disease

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 22GTR, 44NINDS, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 57SNOMED-CT, 35MeSH, 40NCIt, 27ICD9CM, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal


Characteristics (Orphanet epidemiological data):

49
frontotemporal dementia:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Adulthood


Aliases & Descriptions:

pick's disease 8 43 44
pick disease 9 22 47
pick disease of the brain 43 61
frontotemporal dementia 49 61
picks disease 10 45
dementia with lobar atrophy and neuronal cytoplasmic inclusions 43
frontotemporal degeneration 61
dementia in pick's disease 8
lobar atrophy of the brain 43
lobar atrophy of brain 8
pick disease of brain 8
ftd 49


External Ids:

Disease Ontology8 DOID:11870
NCIt40 C85008
ICD9CM27 331.11
MESH via Orphanet36 D057180
ICD10 via Orphanet26 G31.0
SNOMED-CT via Orphanet58 230270009
UMLS via Orphanet62 C0338451
ICD1025 F02.0

Related Diseases for Pick's Disease

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Pick's Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 173)
idRelated DiseaseScoreTop Affiliating Genes
1niemann-pick disease32.0NPC1, NPC2
2niemann–pick disease32.0SMPD1, CHIT1, NPC2, NPC1, NPB
3amyotrophic lateral sclerosis31.4APP, PSEN1, SNCA, MAPT
4lateral sclerosis31.4SNCA, MAPT
5aphasia31.1MAPT
6brain disease30.9APP, PSEN1, SNCA, MAPT, HCRT
7parkinson's disease30.7SNCA, MAPT
8tauopathy30.6APP, NPC1, PSEN1, SNCA, MAPT
9lewy body dementia30.6SNCA, MAPT
10acid sphingomyelinase deficiency30.6SMPD1
11vascular dementia30.5MAPT, SNCA, PSEN1, APP
12progressive supranuclear palsy30.4MAPT
13frontotemporal dementia30.4PSEN1, MAPT
14memory impairment30.3MAPT, SNCA, PSEN1, APP
15splenomegaly30.3LCAT, CHIT1, ABCA1
16sphingolipidosis30.2NPC1, PSAP, ASAH2
17gaucher's disease30.2CCL18, PSAP, CHIT1
18alzheimer's disease30.2PSEN1, NPC1, APOD, APP, M6PR, SNCA
19normal pressure hydrocephalus30.1HCRT, MAPT
20cadasil30.1ABCA1, MAPT, CHIT1, PSEN1
21amyloidosis29.9APP, PSEN1, SNCA, MAPT
22niemann-pick disease type d11.2
23inclusion body myopathy with early-onset paget disease and frontotemporal dementia10.8
24grn-related frontotemporal dementia10.7
25semantic dementia10.7
26m�ni�re disease10.7
27primary progressive aphasia10.7
28lip disease10.6
29frontotemporal dementia, ubiquitin-positive10.6
30niemann-pick disease type c110.6
31frontotemporal dementia with parkinsonism-1710.6
32amyotrophic lateral sclerosis with frontotemporal dementia10.6
33chmp2b-related frontotemporal dementia10.6
34frontotemporal dementia, chromosome 3-linked10.5
35niemann-pick disease type c210.5
36intracranial hypotension10.4
37inclusion body myopathy with paget disease of bone and/or frontotemporal dementia10.4
38inclusion body myopathy with early-onset paget disease and frontotemporal dementia 110.4
39amyotrophic lateral sclerosis 14, with or without frontotemporal dementia10.4
40n syndrome10.4
41pathological gambling10.3
42tardbp-related frontotemporal dementia10.3
43inclusion body myopathy wtih early-onset paget disease without frontotemporal dementia 310.3
44corticobasal degeneration10.3
45vascular disease10.2
46neuronal intranuclear inclusion disease10.2
47alzheimer disease risk factor10.2
48vcp-related amyotrophic lateral sclerosis/frontotemporal dementia10.2
49c9orf72-related amyotrophic lateral sclerosis/frontotemporal dementia10.2
50ubqln2-related amyotrophic lateral sclerosis/frontotemporal dementia10.2

Graphical network of the top 20 diseases related to Pick's Disease:



Diseases related to pick's disease

Clinical Features for Pick's Disease

Sources:
47OMIM
See all sources

Clinical features from OMIM:

172700,600274,600795,607485

Clinical synopsis from OMIM:

172700

Drugs & Therapeutics for Pick's Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Pick's Disease

Drug clinical trials:

Search ClinicalTrials for Pick's Disease

Search NIH Clinical Center for Pick's Disease

Search CenterWatch for Pick's Disease

Genetic Tests for Pick's Disease

Sources:
22GTR
See all sources

Genetic tests related to Pick's Disease:

id Genetic test Affiliating Genes
1 Pick's Disease22

Anatomical Context for Pick's Disease

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Pick's Disease:

33
Bone marrow, Spleen, Brain, Cortex, Spinal cord, Liver, Lung, Skin, T cells, B lymphoblasts, B cells, Fetal brain, Temporal lobe, Dorsal root ganglion, Fetal liver, Fetal lung, Adrenal cortex

Animal Models for Pick's Disease or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Pick's Disease

Sources:
51PubMed
See all sources

Articles related to Pick's Disease:

(show top 50)    (show all 414)
idTitleAuthorsYear
1
Determination of 7-ketocholesterol in plasma by LC-MS for rapid diagnosis of acid SMase-deficient Niemann-Pick disease. (24190732)
2014
2
Identification of seven novel SMPD1 mutations causing Niemann-Pick disease types A and B. (23252888)
2013
3
Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat. (23039766)
2012
4
A novel SMPD1 mutation in two Chinese sibling patients with type B Niemann-Pick disease. (22613662)
2012
5
Niemann-pick disease type C: implications for sedation and anesthesia for diagnostic procedures. (22378675)
2012
6
Acid sphingomyelinase, cell membranes and human disease: lessons from Niemann-Pick disease. (19944693)
2010
7
Identification and characterization of eight novel SMPD1 mutations causing types A and B Niemann-Pick disease. (20386867)
2010
8
A case of a Korean adult affected by type B Niemann-Pick disease: secondary sea-blue histiocytosis and molecular characterization]. (19411774)
2009
9
Phosphorylation of soluble tau differs in Pick's disease and Alzheimer's disease brains. (19693433)
2009
10
Contrast-enhanced ultrasonography in nodular splenomegaly associated with type B Niemann-Pick disease: an atypical hemangioma enhancement pattern. (23396497)
2009
11
Characterization of common SMPD1 mutations causing types A and B Niemann-Pick disease and generation of mutation-specific mouse models. (18815062)
2008
12
Niemann-Pick disease resulting in spontaneous splenic rupture in an adult: report of a case. (18560975)
2008
13
Endogenous and synthetic neurosteroids in treatment of Niemann-Pick Type C disease. (17629950)
2008
14
Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study. (17689147)
2007
15
Pick's disease with Pick bodies combined with progressive supranuclear palsy without tuft-shaped astrocytes: a clinical, neuroradiologic and pathological study of an autopsied case. (16771179)
2006
16
Imprinting at the SMPD1 locus: implications for acid sphingomyelinase-deficient Niemann-Pick disease. (16642440)
2006
17
Niemann-Pick type C disease: subcellular location and functional characterization of NPC2 proteins with naturally occurring missense mutations. (15937921)
2005
18
Pathological properties of the Parkinson's disease-associated protein DJ-1 in alpha-synucleinopathies and tauopathies: relevance for multiple system atrophy and Pick's disease. (14991385)
2004
19
Severity of gliosis in Pick's disease and frontotemporal lobar degeneration: tau-positive glia differentiate these disorders. (12615642)
2003
20
Another phenotype of frontotemporal dementia and parkinsonism linked to chromosome-17 (FTDP-17) with a missense mutation of S305N closely resembling Pick's disease. (12928922)
2003
21
Pick's disease: alpha- and beta-synuclein-immunoreactive Pick bodies in the dentate gyrus. (12410393)
2002
22
Structural analysis of Pick's disease-derived and in vitro-assembled tau filaments. (11290566)
2001
23
Distribution of basal ganglia lesions in generalized variant of Pick's disease: a clinicopathological study of four autopsy cases. (11699556)
2001
24
Niemann-Pick Disease versus acid sphingomyelinase deficiency. (11313707)
2001
25
Creation of a mouse model for non-neurological (type B) Niemann-Pick disease by stable, low level expression of lysosomal sphingomyelinase in the absence of secretory sphingomyelinase: relationship between brain intra-lysosomal enzyme activity and central nervous system function. (10942425)
2000
26
Infusion of recombinant human acid sphingomyelinase into niemann-pick disease mice leads to visceral, but not neurological, correction of the pathophysiology. (11023983)
2000
27
Hematopoietic stem cell gene therapy for Niemann-Pick disease and other lysosomal storage diseases. (11001572)
1999
28
Comparative biochemistry of tau in progressive supranuclear palsy, corticobasal degeneration, FTDP-17 and Pick's disease. (10517507)
1999
29
Serum Zn(2+)-stimulated sphingomyelinase deficiency in type B Niemann-Pick disease. (10541961)
1999
30
Vulnerable neuronal subsets in Alzheimer's and Pick's disease are distinguished by their tau isoform distribution and phosphorylation. (9485060)
1998
31
Nova Scotia Niemann-Pick disease (type D): clinical study of 20 cases. (9512307)
1998
32
Niemann-Pick disease type C: nodular splenomegaly. (7787722)
1995
33
Specific skin lesions in a patient with Niemann-Pick disease. (7857847)
1994
34
Complementation studies in Niemann-Pick disease type C indicate the existence of a second group. (8071958)
1994
35
Severe failure to thrive and liver dysfunction as the main manifestations of a new variant of Niemann-Pick disease. (7813144)
1994
36
Deletion of arginine (608) in acid sphingomyelinase is the prevalent mutation among Niemann-Pick disease type B patients from northern Africa. (8225311)
1993
37
Liver lesion on computed tomography and ultrasonography in adult Niemann Pick disease related to sea blue histiocyte syndrome--a case report. (8325590)
1993
38
Identification of a 3' acceptor splice site mutation (g2610c) in the acid sphingomyelinase gene of patients with Niemann-Pick disease. (8499909)
1993
39
Type C Niemann-Pick disease: use of hydrophobic amines to study defective cholesterol transport. (1817037)
1991
40
Glycogen storage disease associated with Niemann-Pick disease. (2922035)
1989
41
Clinical spectrum of Niemann-Pick disease type C. (2761697)
1989
42
Cerebellar involvement in murine sphingomyelinosis: a new model of Niemann-Pick disease. (3130465)
1988
43
Cortical degeneration with swollen chromatolytic neurons: its relationship to Pick's disease. (3958759)
1986
44
Sharing of specific antigens by degenerating neurons in Pick's disease and Alzheimer's disease. (2579334)
1985
45
Selective IgA deficiency associated with Niemann-Pick disease. (6233863)
1984
46
A post-mortem comparison of the cortical cholinergic system in Alzheimer's disease and Pick's disease. (6142096)
1983
47
Niemann-Pick disease, Type C: evidence for the deficiency of an activating factor stimulating sphingomyelin and glucocerebroside degradation. (6256275)
1980
48
Biochemical, genetic and ultrastructural study of a family with the sea-blue histiocyte syndrome/chronic non-neuronopathic Niemann-Pick disease. (100330)
1978
49
Pick's disease. A clinical and ultrastructural study. (4332733)
1972
50
A lipid metabolic disorder: disseminated lipogranulomatosis; a syndrome with similarity to, and important difference from, Niemann-Pick and Hand-SchA1ller-Christian disease. (12975849)
1952

Genetic Variations for Pick's Disease

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Pick's Disease:

63
id Symbol AA change Variation SNP ID
1MAPTp.Lys574ThrVAR_010344
2MAPTp.Gly706ArgVAR_010352
3MAPTp.Ser637PheVAR_019665
4MAPTp.Lys686IleVAR_019668

Expression for genes affiliated with Pick's Disease

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Pick's Disease

Search GEO for disease gene expression data for Pick's Disease.

Pathways for genes affiliated with Pick's Disease

Sources:
52QIAGEN, 30KEGG, 54Reactome, 38NCBI BioSystems Database, 4Cell Signaling Technology
See all sources

Pathways related to Pick's Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Cholesterol and Sphingolipids transport / Generic schema (normal and CF)
10.5NPC2, NPC1
210.4APP, PSEN1, MAPT
3
Hide members
10.4SMPD1, ASAH2, PSAP
4
Cholesterol and Sphingolipids transport / Distribution to the intracellular membrane compartments (normal and CF)
10.4NPC1, NPC2, RAB9A
510.4APP, PSEN1, SNCA, MAPT
6
Hide members
10.4LCAT, NPC1L1, ABCA1
710.4SMPD1, PSAP, NPC2, NPC1, M6PR

Compounds for genes affiliated with Pick's Disease

Sources:
45Novoseek, 24HMDB, 11DrugBank, 29IUPHAR, 60Tocris Bioscience, 50PharmGKB
See all sources

Compounds related to Pick's Disease according to GeneCards/GeneDecks:

(show all 49)
idCompoundScoreTop Affiliating Genes
1thioflavin4510.9APP, SNCA, MAPT
2thioflavine s4510.9APP, SNCA, MAPT
3glucosylceramide45 2411.8SMPD1, ASAH2, CHIT1, PSAP, NPC2
4ganglioside4510.8SMPD1, PSAP, NPC2, NPC1, APP
54-hydroxynonenal45 2411.8LCAT, APP, PSEN1, SNCA, MAPT
6choline45 11 2412.8APP, PSEN1, PSAP, SNCA, MAPT, ABCA1
7sterol4510.8LCAT, NPC1, NPC2, NPC1L1, PSEN1, ABCA1
8methionine sulfoxide45 11 2412.8ABCA1, SNCA, APP
9lactacystin4510.8APP, PSEN1, SNCA, MAPT, ABCA1
10carbachol45 29 1112.8APP, PSEN1, SNCA, MAPT, HCRT
11valine4510.8APP, PSEN1, PSAP, SNCA, MAPT
12mannose 6-phosphate45 2411.8M6PR, NPC1, PSAP, RAB9A, SMPD1
13methionine4510.8LCAT, PSEN1, SNCA, MAPT, ABCA1, SMPD1
14sphingosine45 11 2412.8NPC2, PSAP, ASAH2, SMPD1
15formate4510.8APP, SNCA, MAPT
16sodium dodecylsulfate4510.8MAPT, SNCA, APP, LCAT
17phosphatidylcholine4510.8LCAT, NPC1, SNCA, ABCA1, SMPD1
18monensin4510.8SMPD1, ABCA1, M6PR
19phospholipid4510.8LCAT, APOD, PSAP, SNCA, ABCA1, SMPD1
20glycolipid4510.8PSAP, NPC2, NPC1
21tmao4510.7SNCA, MAPT
22testosterone45 60 11 2413.7LCAT, APP, APOD, PSAP, SNCA, MAPT
23cysteine4510.7M6PR, LCAT, APP, NPC1, PSEN1, PSAP
24ceramide4510.7SMPD1, ASAH2, ABCA1, PSAP
25arginine4510.7M6PR, APP, PSEN1, PSAP, SNCA, MAPT
26glucose4510.7APOD, PSEN1, PSAP, SNCA, MAPT, HCRT
27glutamine4510.7LCAT, APP, PSEN1, SNCA, MAPT
28glutamate4510.7LCAT, APP, PSEN1, SNCA, MAPT, HCRT
2924s-hydroxy-cholesterol4510.7ABCA1, APP
30alanine4510.7LCAT, CCL18, APP, PSEN1, SNCA, MAPT
31phosphatidylserine45 29 1112.7ABCA1, MAPT, SNCA, PSAP
32oligonucleotide4510.7APOD, PSEN1, PSAP, HCRT, ABCA1, SMPD1
33dihydroceramide45 2411.7SMPD1, ASAH2, NPC2
34u18666a4510.7APP, NPC1
35serine4510.7M6PR, LCAT, APP, PSEN1, PSAP, SNCA
36thioflavin t4510.7SNCA, APP
37fatty acid4510.7LCAT, APOD, SNCA, ABCA1, ASAH2
38tacrine45 1111.6MAPT, APP
39cholesterol45 29 11 2413.6RAB9A, ABCA1, HCRT, SNCA, PSAP, PSEN1
40lipid4510.6SMPD1, M6PR, LCAT, ASAH2, RAB9A, ABCA1
41atp45 2911.6NPC1, NPC1L1, PSAP, HCRT, ABCA1, SMPD1
42h2o24510.6APP, PSEN1, SNCA, MAPT, SMPD1
43nmda45 2911.6APP, PSEN1, MAPT, HCRT
44donepezil45 11 2412.6MAPT, APP
45norepinephrine45 11 2412.5APP, PSEN1, SNCA, HCRT
46glycogen45 2411.4MAPT, SNCA, PSEN1, M6PR
47acetylcholine45 50 29 11 2414.4HCRT, MAPT, SNCA, APP
48alpha tocopherol4510.3LCAT, SNCA, ABCA1
49memantine45 29 1112.1MAPT, APP

GO Terms for genes affiliated with Pick's Disease

Sources:
16Gene Ontology
See all sources

Cellular components related to Pick's Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1rough endoplasmic reticulumGO:00579110.6HCRT, SNCA, PSEN1
2perinuclear region of cytoplasmGO:04847110.6APP, APOD, NPC1, PSEN1, SNCA, HCRT
3axonGO:03042410.6APP, PSEN1, SNCA, MAPT
4extracellular regionGO:00557610.5HCRT, LCAT, APP, APOD, NPB, NPC1
5Golgi apparatusGO:00579410.5APP, NPC1, PSEN1, PSAP, SNCA, ABCA1
6lysosomeGO:00576410.5NPC1, NPC2, CHIT1, RAB9A
7growth coneGO:03042610.4MAPT, SNCA, PSEN1
8ciliary rootletGO:03525310.3PSEN1, APP
9extracellular spaceGO:00561510.3LCAT, CCL18, APOD, PSAP, CHIT1, SMPD1
10lysosomal membraneGO:00576510.1M6PR, NPC1, PSEN1, PSAP

Biological processes related to Pick's Disease according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1cholesterol transportGO:03030110.7NPC1L1, NPC2, NPC1, LCAT
2cholesterol effluxGO:03334410.7ABCA1, NPC2, NPC1
3cholesterol homeostasisGO:04263210.7LCAT, NPC1, NPC2, NPC1L1, ABCA1
4smooth endoplasmic reticulum calcium ion homeostasisGO:05156310.6PSEN1, APP
5cholesterol metabolic processGO:00820310.6LCAT, APP, NPC1, NPC2, ABCA1
6response to drugGO:04249310.6APOD, NPC1, NPC1L1, SNCA, SMPD1
7lipoprotein metabolic processGO:04215710.6LCAT, NPC1L1, ABCA1
8glycosphingolipid metabolic processGO:00668710.6SMPD1, ASAH2, PSAP
9intracellular cholesterol transportGO:03236710.6NPC2, ABCA1
10negative regulation of platelet-derived growth factor receptor signaling pathwayGO:01064210.5SNCA, APOD
11positive regulation of receptor recyclingGO:00192110.4SNCA, PSEN1
12reverse cholesterol transportGO:04369110.4ABCA1, LCAT
13sphingolipid metabolic processGO:00666510.3PSAP, ASAH2, SMPD1
14axon cargo transportGO:00808810.1MAPT, APP

Molecular functions related to Pick's Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cholesterol bindingGO:01548510.5ABCA1, NPC2, NPC1, APOD
2apolipoprotein bindingGO:03418510.4ABCA1, MAPT
3apolipoprotein A-I bindingGO:03418610.3ABCA1, LCAT
4protein bindingGO:00551510.2NPC1, NPB, APOD, APP, CCL18, LCAT
5hedgehog receptor activityGO:00815810.1NPC1L1, NPC1

Products for genes affiliated with Pick's Disease

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pick's Disease

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet