MCID: PCK001
MIFTS: 69

Pick's Disease malady

Genetic diseases, Rare diseases, Mental diseases, Neuronal diseases categories
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Summaries for Pick's Disease

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NIH Rare Diseases:42 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 based summary: Pick's Disease, also known as pick disease, is related to niemann-pick disease and niemann-pick disease type c1, and has symptoms including An important gene associated with Pick's Disease is MAPT (microtubule-associated protein tau), and among its related pathways are Alzheimers Disease Pathway and Cholesterol and Sphingolipids transport Distribution to the intracellular membrane compartments normal and CF . The compounds sterol and Tetrahexosylceramide (d18:1/12:0) have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and liver, and related mouse phenotypes are respiratory system and cellular.

NINDS:43 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:46 172700

Aliases & Classifications for Pick's Disease

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Pick's Disease, Aliases & Descriptions:

Name: Pick's Disease 8 42 43
Pick Disease 8 9 22 46
Pick Disease of the Brain 42 62
Picks Disease 10 44
Dementia with Lobar Atrophy and Neuronal Cytoplasmic Inclusions 42
 
Frontotemporal Degeneration 62
Dementia in Pick's Disease 8
Lobar Atrophy of the Brain 42
Lobar Atrophy of Brain 8
Pick Disease of Brain 8


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Mental diseases, Neuronal diseases


External Ids:

Disease Ontology8 DOID:11870
OMIM46 172700
NCIt39 C85008
ICD9CM27 331.11
ICD1025 F02.0

Related Diseases for Pick's Disease

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

(show top 50)    (show all 105)
idRelated DiseaseScoreTop Affiliating Genes
1niemann-pick disease32.2SMPD1, CHIT1, NPC2, NPC1
2niemann-pick disease type c131.7NPC2, NPC1
3acid sphingomyelinase deficiency31.7SMPD1
4progressive supranuclear palsy30.7MAPT, HCRT
5frontotemporal dementia30.5PSEN1, MAPT
6gaucher's disease30.5CHIT1
7sphingolipidosis30.5NPC1, ASAH2
8lysosomal storage disease30.2SMPD1, NAGA, CHIT1, NPC1
9tauopathy30.1NPC1, MAPT, PSEN1
10dementia29.9HCRT, CHIT1, PSEN1, MAPT, NPC2, NPC1
11multiple sclerosis29.6CHIT1, MPZ, HCRT
12alzheimer's disease28.5HCRT, SMPD1, APOD, MPZ, CHIT1, ASAH2
13niemann-pick disease type d10.6
14niemann-pick disease type c210.5
15semantic dementia10.5MAPT
16neuronitis10.5
17hepatitis10.4
18histiocytosis10.4
19sea-blue histiocytosis10.4
20normal pressure hydrocephalus10.3MAPT, HCRT
21corticobasal degeneration10.3
22guillain-barre syndrome10.2MPZ, HCRT
23alzheimer disease type 210.2PSEN1, MAPT
24prion disease10.2PSEN1, MAPT
25cerebral amyloid angiopathy10.2PSEN1, MAPT
26vascular dementia10.2PSEN1, MAPT
27amyloid tumor10.2MAPT, PSEN1
28sea-blue histiocyte syndrome10.2
29cerebritis10.2
30splenomegaly10.2
31niemann-pick disease type c, juvenile neurologic onset10.2
32myotonic dystrophy10.2MAPT, HCRT
33memory impairment10.1MAPT, PSEN1
34demyelinating disease10.1HCRT, MPZ, MAPT
35central nervous system disease10.1HCRT, MAPT
36oligodendroglioma10.1APOD, SMPD1, UGT8
37brain disease10.1MAPT, PSEN1, HCRT
38fabry disease10.1CHIT1, NAGA
39glycogen storage disease10.1
40hepatocellular carcinoma10.1
41liver disease10.1
42juvenile xanthogranuloma10.1
43osteomyelitis10.1
44dysphagia10.1
45myoclonus10.1
46tremor10.1
47niemann-pick disease type c, severe perinatal form10.1
48niemann-pick disease type c, late infantile neurologic onset10.1
49niemann-pick disease type c, severe early infantile neurologic onset10.1
50niemann-pick disease type c, adult neurologic onset10.1

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



Diseases related to pick's disease

Symptoms for Pick's Disease

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Symptoms by clinical synopsis from OMIM:

172700

Clinical features from OMIM:

172700

HPO human phenotypes related to Pick's Disease:

(show all 16)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 hyperorality HP:0000710
3 stereotypic behavior HP:0000733
4 disinhibition HP:0000734
5 irritability HP:0000737
6 apathy HP:0000741
7 inappropriate laughter HP:0000748
8 personality changes HP:0000751
9 frontotemporal dementia HP:0002145
10 gliosis HP:0002171
11 language impairment HP:0002463
12 primitive reflexes (palmomental, snout, glabellar) HP:0002476
13 neuronal loss in central nervous system HP:0002529
14 polyphagia HP:0002591
15 sporadic HP:0003745
16 echolalia HP:0010529

Drugs & Therapeutics for Pick's Disease

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Drug clinical trials:

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Genetic Tests for Pick's Disease

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Genetic tests related to Pick's Disease:

id Genetic test Affiliating Genes
1 Pick's Disease22

Anatomical Context for Pick's Disease

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MalaCards organs/tissues related to Pick's Disease:

32
Brain, Cortex, Liver, Lung, Spleen, Temporal lobe, Olfactory bulb, Amygdala

Animal Models for Pick's Disease or affiliated genes

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MGI Mouse Phenotypes related to Pick's Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.8HCRT, SMPD1, PSEN1, NPC2, NPC1
2MP:00053848.5NPC1, NPC2, MAPT, PSEN1, MPZ, SMPD1
3MP:00053978.2SMPD1, MPZ, PSEN1, MAPT, NPC2, NPC1
4MP:00053787.7UGT8, HCRT, SMPD1, PSEN1, MAPT, NPC2
5MP:00053877.6UGT8, SMPD1, MPZ, CHIT1, PSEN1, MAPT
6MP:00107687.5UGT8, SMPD1, APOD, MPZ, PSEN1, MAPT
7MP:00053867.2UGT8, HCRT, SMPD1, APOD, MPZ, PSEN1
8MP:00036317.2UGT8, HCRT, SMPD1, APOD, MPZ, PSEN1
9MP:00053765.8NPC1L1, UGT8, HCRT, SMPD1, APOD, MPZ

Publications for Pick's Disease

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Articles related to Pick's Disease:

(show top 50)    (show all 276)
idTitleAuthorsYear
1
Tau-mediated nuclear depletion and cytoplasmic accumulation of SFPQ in Alzheimer's and Pick's disease. (22558197)
2012
2
Neuronal and glial tau pathology in early frontotemporal lobar degeneration-tau, Pick's disease subtype. (20022024)
2010
3
Phosphorylation of soluble tau differs in Pick's disease and Alzheimer's disease brains. (19693433)
2009
4
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
5
Notch-1 immunoexpression is increased in Alzheimer's and Pick's disease. (16473372)
2006
6
The corpus callosum in Pick's disease, Alzheimer's disease, and amyotrophic lateral sclerosis: gliosis implies possible clinical consequence. (16526588)
2006
7
Presenile dementia mimicking Pick's disease: an autopsy case of localized amygdala degeneration with character change and emotional disorder. (16193841)
2005
8
Metalloproteinase ADAMTS-1 but not ADAMTS-5 is manifold overexpressed in neurodegenerative disorders as Down syndrome, Alzheimer's and Pick's disease. (15661359)
2005
9
An N-terminal fragment of ProSAAS (a granin-like neuroendocrine peptide precursor) is associated with tau inclusions in Pick's disease. (12914799)
2003
10
Clinicopathological study of two subtypes of Pick's disease in Japan. (12457075)
2003
11
Severity of gliosis in Pick's disease and frontotemporal lobar degeneration: tau-positive glia differentiate these disorders. (12615642)
2003
12
Preservation of nigral neurons in Pick's disease with Pick bodies: a clinicopathological and morphometric study of five autopsy cases. (11809165)
2002
13
Pick's disease: a clinical overview. (11402142)
2001
14
Structural analysis of Pick's disease-derived and in vitro-assembled tau filaments. (11290566)
2001
15
Neuropathological discrepancy between Japanese Pick's disease without Pick bodies and frontal lobe degeneration type of frontotemporal dementia proposed by Lund and Manchester Group. (10935442)
2000
16
Immunohistochemistry distinguishes: between Pick's disease and corticobasal degeneration. (11185644)
2000
17
The spatial patterns of Pick bodies, Pick cells and Alzheimer's disease pathology in Pick's disease. (19519649)
1999
18
Tau-positive glial inclusions in progressive supranuclear palsy, corticobasal degeneration and Pick's disease. (10517506)
1999
19
Pick's disease: selective occurrence of apolipoprotein E-immunoreactive Pick bodies in the limbic system. (9452816)
1998
20
Vulnerable neuronal subsets in Alzheimer's and Pick's disease are distinguished by their tau isoform distribution and phosphorylation. (9485060)
1998
21
Cognitive, neuroimaging, and pathological studies in a patient with Pick's disease. (9485069)
1998
22
The expression of creatine kinase isoenzymes in neocortex of patients with neurodegenerative disorders: Alzheimer's and Pick's disease. (9270056)
1997
23
Pick's disease with amyotrophic lateral sclerosis. (9415547)
1997
24
Pick's disease with amyotrophic lateral sclerosis (ALS): report of two autopsy cases and literature review. (9125397)
1997
25
Specific pathological Tau protein variants characterize Pick's disease. (8786374)
1996
26
Pick's disease: hyperphosphorylated tau protein segregates to the somatoaxonal compartment. (8960316)
1996
27
Initial 'schizophrenia-like' psychosis in Pick's disease: case study with neuroimaging and neuropathology, and implications for frontotemporal dysfunction in schizophrenia. (8929764)
1995
28
Slowly progressive aphasia, a left temporal variant of probable Pick's disease: 15 years of follow-up. (7591688)
1995
29
Morphological overlap between corticobasal degeneration and Pick's disease: a clinicopathological report. (7885345)
1995
30
Neuropathologic changes of the temporal pole in Alzheimer's disease and Pick's disease. (8304839)
1994
31
Microglial reaction in Pick's disease. (8255555)
1993
32
A case of early-onset Pick's disease. (1429481)
1992
33
Altered serotonergic and cholinergic synaptic markers in Pick's disease. (1898253)
1991
34
Pick's disease: a case clinically resembling amyotrophic lateral sclerosis. (1944916)
1991
35
Selective loss of nigral neurons in Pick's disease: a morphometric study. (2082655)
1990
36
Isolation of the insoluble straight fibrils of Pick's disease. (3681329)
1987
37
Neurochemical enzyme changes in Alzheimer's and Pick's disease. (6089677)
1984
38
Studies on lipids from liver and spleen of a child (O.L.) with Niemann-Pick's disease type C. (6716060)
1984
39
Basal nucleus of Meynert. A neuropathological study in Alzheimer's disease, simple senile dementia, Pick's disease and Huntington's chorea. (6230416)
1983
40
Lack of cholinergic deficit in the neocortex in Pick's disease. (6141615)
1983
41
Computed tomography in Pick's disease: findings in a family affected in three consecutive generations. (7142506)
1982
42
Two autopsy cases of Pick's disease with neurofibrillary tangles. (7095671)
1982
43
Neurochemical observations in a case of Pick's disease. (7431041)
1980
44
Niemann--Pick's disease. (5366306)
1969
45
Fine structure of the Pick and Hirano bodies in a case of Pick's disease. (4179487)
1968
46
Electron microscopic structure of the "inclusion bodies" in Pick's disease. (4178657)
1968
47
Another case of Niemann-Pick's disease observed in Denmark. (12976123)
1952
48
Niemann-Pick's disease. (18137802)
1949
49
Niemann-Pick's disease; report of case. (20274455)
1946
50
PERICARDITIC PSEUDO-CIRRHOSIS OF THE LIVER, OR PICK'S DISEASE. (20774453)
1929

Variations for Pick's Disease

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UniProtKB/Swiss-Prot genetic disease variations for Pick's Disease:

64
id Symbol AA change Variation ID SNP ID
1MAPTp.Lys574ThrVAR_010344
2MAPTp.Gly706ArgVAR_010352
3MAPTp.Ser637PheVAR_019665
4MAPTp.Lys686IleVAR_019668

Clinvar genetic disease variations for Pick's Disease:

6
id Gene Name Type Significance SNP ID Assembly Location
1MAPTNM_016835.4(MAPT): c.2116G> A (p.Gly706Arg)single nucleotide variantPathogenicrs63750512GRCh37Chr 17, 44101376: 44101376
2MAPTNM_016835.4(MAPT): c.1721A> C (p.Lys574Thr)single nucleotide variantPathogenicrs63750129GRCh37Chr 17, 44073978: 44073978
3MAPTNM_016835.4(MAPT): c.2057A> T (p.Lys686Ile)single nucleotide variantPathogenicrs63751264GRCh37Chr 17, 44096092: 44096092
4MAPTNM_016835.4(MAPT): c.1910C> T (p.Ser637Phe)single nucleotide variantPathogenicrs63750635GRCh37Chr 17, 44091652: 44091652
5PSEN1NM_000021.3(PSEN1): c.548G> T (p.Gly183Val)single nucleotide variantPathogenicrs63751068GRCh37Chr 14, 73653628: 73653628

Expression for genes affiliated with Pick's Disease

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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

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Compounds for genes affiliated with Pick's Disease

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Sources:
44Novoseek, 24HMDB, 28IUPHAR, 11DrugBank
See all sources

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

(show top 50)    (show all 172)
idCompoundScoreTop Affiliating Genes
1sterol449.0NPC1L1, NPC2, PSEN1, NPC1
2Tetrahexosylceramide (d18:1/12:0)249.0SMPD1, NAGA, ASAH2, NPC2
3ganglioside449.0NPC1, MPZ, SMPD1, NPC2
4N-Stearoylsphingosine248.9ASAH2, UGT8, SMPD1, NPC2
5N-Lignoceroylsphingosine248.9NPC2, UGT8, ASAH2, SMPD1
6N-Palmitoylsphingosine248.9UGT8, SMPD1, ASAH2, NPC2
7Cer(d18:0/25:0)248.9NPC2, ASAH2, SMPD1, UGT8
8Cer(d18:0/26:0)248.9NPC2, ASAH2, SMPD1, UGT8
9Cer(d18:0/26:1(17Z))248.9NPC2, ASAH2, SMPD1, UGT8
10Cer(d18:0/24:1(15Z))248.9UGT8, SMPD1, NPC2, ASAH2
11Cer(d18:0/23:0)248.9ASAH2, SMPD1, UGT8, NPC2
12Cer(d18:0/24:0)248.8NPC2, ASAH2, SMPD1, UGT8
13Cer(d18:1/22:1(13Z))248.8UGT8, SMPD1, ASAH2, NPC2
14Cer(d18:1/23:0)248.8NPC2, ASAH2, SMPD1, UGT8
15Ceramide (t18:0/16:0)248.8NPC2, ASAH2, SMPD1, UGT8
16Cer(d18:1/14:0)248.8NPC2, ASAH2, SMPD1, UGT8
17Cer(d18:1/18:1(11Z))248.8NPC2, ASAH2, SMPD1, UGT8
18Cer(d18:0/12:0)248.8NPC2, UGT8, SMPD1, ASAH2
19Cer(d18:0/18:1(11Z))248.8NPC2, ASAH2, SMPD1, UGT8
20Cer(d18:0/18:0)248.8UGT8, SMPD1, ASAH2, NPC2
21Cer(d18:0/16:0)248.8UGT8, SMPD1, ASAH2, NPC2
22Cer(d18:0/14:0)248.8UGT8, SMPD1, ASAH2, NPC2
23Cer(d18:0/22:1(13Z))248.8UGT8, SMPD1, ASAH2, NPC2
24Cer(d18:0/22:0)248.8UGT8, SMPD1, ASAH2, NPC2
25Cer(d18:0/20:0)248.8UGT8, NPC2, ASAH2, SMPD1
26Cer(d18:0/18:1(9Z))248.8NPC2, ASAH2, SMPD1, UGT8
27Ceramide (d18:1/25:0)248.8SMPD1, ASAH2, NPC2, UGT8
28Ceramide (d18:1/24:1(15Z))248.8UGT8, SMPD1, ASAH2, NPC2
29Ceramide (d18:1/24:0)248.8UGT8, SMPD1, ASAH2, NPC2
30Ceramide (d18:1/26:0)248.8NPC2, ASAH2, UGT8, SMPD1
31Ceramide (d18:1/9Z-18:1)248.8UGT8, SMPD1, ASAH2, NPC2
32Ceramide (d18:1/26:1(17Z))248.7SMPD1, ASAH2, NPC2, UGT8
33glucosylceramide44 249.7NPC2, ASAH2, SMPD1, CHIT1
34Ceramide (d18:1/12:0)248.7NPC2, ASAH2, SMPD1, UGT8
35Ceramide (d18:1/18:0)248.7NPC2, ASAH2, SMPD1, UGT8
36Ceramide (d18:1/22:0)248.7UGT8, SMPD1, ASAH2, NPC2
37dihydroceramide44 249.7UGT8, ASAH2, SMPD1, NPC2
38Galactosylceramide (d18:1/22:0)248.7NPC2, SMPD1, UGT8, ASAH2
39Galactosylceramide (d18:1/20:0)248.7UGT8, SMPD1, ASAH2, NPC2
40glycolipid448.7UGT8, NPC1, NPC2, MPZ, NAGA
41Galactosylceramide (d18:1/18:1(9Z))248.7UGT8, SMPD1, ASAH2, NPC2
42Galactosylceramide (d18:1/26:1(17Z))248.6SMPD1, UGT8, NPC2, ASAH2
43Galactosylceramide (d18:1/24:1(15Z))248.6UGT8, SMPD1, ASAH2, NPC2
44Galactosylceramide (d18:1/18:0)248.6UGT8, SMPD1, NPC2, ASAH2
45Ceramide (d18:1/20:0)248.6UGT8, SMPD1, ASAH2, NPC2
46Galactosylceramide (d18:1/16:0)248.5SMPD1, UGT8, ASAH2, NPC2
47Ceramide (d18:1/16:0)248.4UGT8, SMPD1, ASAH2, NPC2
48glucose448.2HCRT, APOD, NAGA, PSEN1, MAPT, SMPD1
49cholesterol44 28 24 1111.0NPC1, NPC2, PSEN1, MPZ, APOD, NPC1L1
50lipid446.2NPC1L1, UGT8, HCRT, SMPD1, APOD, MPZ

GO Terms for genes affiliated with Pick's Disease

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

idNameGO IDScoreTop Affiliating Genes
1rough endoplasmic reticulumGO:0057919.8PSEN1, HCRT
2lysosomeGO:0057649.0NPC1, NPC2, CHIT1, NAGA
3perinuclear region of cytoplasmGO:0484718.9HCRT, APOD, PSEN1, NPC1
4endoplasmic reticulumGO:0057838.9NPC1, NPC2, PSEN1, APOD

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

idNameGO IDScoreTop Affiliating Genes
1cholesterol effluxGO:0333449.8NPC1, NPC2
2cholesterol transportGO:0303019.7NPC1L1, NPC1, NPC2
3adult walking behaviorGO:0076289.6NPC1, MAPT
4axon cargo transportGO:0080889.6UGT8, MAPT
5glycosphingolipid metabolic processGO:0066879.3ASAH2, SMPD1
6response to drugGO:0424939.1NPC1L1, NPC1, APOD, SMPD1

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

idNameGO IDScoreTop Affiliating Genes
1hedgehog receptor activityGO:0081589.8NPC1L1, NPC1
2cholesterol bindingGO:0154859.1NPC1, NPC2, APOD

Products for genes affiliated with Pick's Disease

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  • Antibodies
  • Proteins
  • Lysates

Sources for Pick's Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet