MCID: PCK002
MIFTS: 64

Pick Disease malady

Genetic diseases, Rare diseases, Mental diseases, Neuronal diseases categories

Summaries for Pick Disease

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NIH Rare Diseases:41 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 Disease, also known as pick's disease, is related to niemann-pick disease and niemann-pick disease, type c1, and has symptoms including autosomal dominant inheritance, hyperorality and stereotypic behavior. An important gene associated with Pick 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 spec-t and SM(d18:1/18:1(11Z)) have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and bone, and related mouse phenotypes are liver/biliary system and respiratory system.

OMIM:45 Pick disease refers to the neuropathologic finding of 'Pick bodies,' which are argyrophilic, intraneuronal inclusions,... (172700) more...

NINDS:42 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.

Aliases & Classifications for Pick Disease

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Pick Disease, Aliases & Descriptions:

Name: Pick Disease 45 9 10
Pick's Disease 9 41 42
Picks Disease 11 43 22
Pick Disease of the Brain 41 60
Dementia with Lobar Atrophy and Neuronal Cytoplasmic Inclusions 41
 
Dementia in Pick's Disease 9
Lobar Atrophy of the Brain 41
Lobar Atrophy of Brain 9
Pick Disease of Brain 9


Classifications:

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


External Ids:

OMIM45 172700
Disease Ontology9 DOID:11870
ICD9CM27 331.11
NCIt38 C85008
ICD1025 F02.0

Related Diseases for Pick Disease

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Diseases related to Pick Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 106)
idRelated DiseaseScoreTop Affiliating Genes
1niemann-pick disease32.0SMPD1, CHIT1, NPC2, NPC1
2niemann-pick disease, type c131.8NPC2, NPC1
3acid sphingomyelinase deficiency31.7SMPD1
4dementia30.7PSEN1, MAPT
5dementia, frontotemporal30.6PSEN1, MAPT
6lysosomal storage disease30.6SMPD1, CHIT1, NPC1
7supranuclear palsy, progressive30.4MAPT, HCRT
8gaucher's disease30.3CHIT1, SMPD1
9tauopathy30.0PSEN1, MAPT, NPC1
10amyloidosis29.8MAPT, PSEN1
11alzheimer disease28.6HCRT, SMPD1, APOD, MPZ, CHIT1, PSEN1
12niemann-pick disease, type b10.8
13niemann-pick disease, type a10.7
14niemann-pick disease, type c210.5
15neuronitis10.5
16semantic dementia10.4MAPT
17hepatitis10.4
18histiocytosis10.4
19corticobasal degeneration10.3
20niemann-pick disease type c, juvenile neurologic onset10.2
21niemann-pick disease type e10.2
22normal pressure hydrocephalus10.2MAPT, HCRT
23alzheimer disease-210.2PSEN1, MAPT
24prion disease10.2MAPT, PSEN1
25cerebral amyloid angiopathy10.2PSEN1, MAPT
26liver disease10.2
27cerebritis10.2
28splenomegaly10.2
29niemann-pick disease type c, severe perinatal form10.2
30niemann-pick disease type c, late infantile neurologic onset10.2
31niemann-pick disease type c, severe early infantile neurologic onset10.2
32niemann-pick disease type c, adult neurologic onset10.2
33vascular dementia10.2PSEN1, MAPT
34central nervous system disease10.1MAPT, HCRT
35myotonic dystrophy10.1MAPT, HCRT
36myositis10.1MAPT, PSEN1
37hepatocellular carcinoma10.1
38glycogen storage disease10.1
39juvenile xanthogranuloma10.1
40osteomyelitis10.1
41sphingolipidosis10.1
42dysphagia10.1
43myoclonus10.1
44tremor10.1
45oligodendroglioma10.0APOD, SMPD1
46guillain-barre syndrome10.0HCRT, MPZ
47brain disease10.0PSEN1, HCRT
48huntington disease10.0MAPT, PSEN1, HCRT
49stroke, ischemic10.0MAPT, PSEN1, CHIT1
50colorectal cancer9.9

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



Diseases related to pick disease

Symptoms for Pick Disease

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Symptoms by clinical synopsis from OMIM:

172700

Clinical features from OMIM:

172700

HPO human phenotypes related to Pick 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 Disease

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Drug clinical trials:

Search ClinicalTrials for Pick Disease

Search NIH Clinical Center for Pick Disease

Genetic Tests for Pick Disease

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Genetic tests related to Pick Disease:

id Genetic test Affiliating Genes
1 Pick's Disease22

Anatomical Context for Pick Disease

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MalaCards organs/tissues related to Pick Disease:

31
Brain, Liver, Bone, Bone marrow, Skin, Lung, Spleen, Testes, Cortex, Thalamus, Cerebellum, Spinal cord, Adipocyte, Breast, T cells, Olfactory bulb, Dorsal root ganglion

Animal Models for Pick Disease or affiliated genes

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Publications for Pick Disease

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Articles related to Pick Disease:

(show top 50)    (show all 560)
idTitleAuthorsYear
1
Altered Clathrin-Independent Endocytosis in Type A Niemann-Pick Disease Cells and Rescue by ICAM-1-Targeted Enzyme Delivery. (25849869)
2015
2
Hearing loss is an early consequence of Npc1 gene deletion in the mouse model of Niemann-Pick disease, type C. (24839095)
2014
3
Excessive microglial activation aggravates olfactory dysfunction by impeding the survival of newborn neurons in the olfactory bulb of Niemann-Pick disease type C1 mice. (25132229)
2014
4
The useful preliminary diagnosis of Niemann-Pick disease type C by filipin test in blood smear. (24001525)
2013
5
Altered transition metal homeostasis in Niemann-Pick disease, type C1. (24343124)
2013
6
Skeletal manifestations in pediatric and adult patients with Niemann Pick disease type B. (22718274)
2013
7
Effects of miglustat on stabilization of neurological disorder in niemann-pick disease type C: Iranian pediatric case series. (23143717)
2013
8
Teaching video neuroimages: gelastic cataplexy as the first neurologic manifestation of Niemann-Pick disease type C. (23183285)
2012
9
Genotype/phenotype of 6 Chinese cases with Niemann-Pick disease type C. (22326530)
2012
10
Plasma cell myeloma with intracytoplasmic crystalloid inclusions, mimicking a Niemann-Pick disease. (22591329)
2012
11
Niemann-Pick disease type A presenting as unilateral tremors. (23255701)
2012
12
Defining natural history: assessment of the ability of college students to aid in characterizing clinical progression of Niemann-Pick disease, type C. (21984891)
2011
13
Clinical experience with miglustat therapy in pediatric patients with Niemann-Pick disease type C: a case series. (20056559)
2010
14
Response: Sample size and statistical comparisons of GVHD rates in pediatric Niemann-Pick disease patients. (20075176)
2010
15
A case of a Korean adult affected by type B Niemann-Pick disease: secondary sea-blue histiocytosis and molecular characterization]. (19411774)
2009
16
A novel missense mutation of the SMPD1 gene in a Taiwanese patient with type B Niemann-Pick disease. (19050888)
2009
17
Treatment of a child diagnosed with Niemann-Pick disease type C with miglustat: a case report in Brazil. (18937049)
2008
18
TAR-DNA binding protein 43 in Pick disease. (18091558)
2008
19
Acid sphingomyelinase-deficient Niemann-Pick disease: novel findings in a Greek child. (17876723)
2007
20
Treatment of hyperlipidemia associated with Niemann-Pick disease type B by fenofibrate. (16211396)
2006
21
Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease. (17011332)
2006
22
Bipolar disorder and Niemann-Pick disease type C. (15863815)
2005
23
Plasma chitotriosidase and CCL18: early biochemical surrogate markers in type B Niemann-Pick disease. (15702402)
2005
24
Comparative effects of recombinant acid sphingomyelinase administration by different routes in niemann-pick disease mice. (15516789)
2004
25
Sleep disturbances and hypocretin deficiency in Niemann-Pick disease type C. (12841368)
2003
26
Niemann-Pick disease type A and B are clinically but also enzymatically heterogeneous: pitfall in the laboratory diagnosis of sphingomyelinase deficiency associated with the mutation Q292 K. (14681755)
2003
27
Hematopoietic stem cell gene therapy for Niemann-Pick disease and other lysosomal storage diseases. (11001572)
1999
28
The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1. (9634529)
1998
29
GABAergic neuroaxonal dystrophy and other cytopathological alterations in feline Niemann-Pick disease type C. (9255392)
1997
30
Linkage of Niemann-Pick disease type D to the same region of human chromosome 18 as Niemann-Pick disease type C. (9245994)
1997
31
Deficient ferritin immunoreactivity in visceral organs from four patients with Niemann-Pick disease type C. (7582867)
1995
32
Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease. (7670466)
1995
33
Neurofibrillary tangles in Niemann-Pick disease type C. (7754743)
1995
34
Molecular analysis of the acid sphingomyelinase deficiency in a family with an intermediate form of Niemann-Pick disease. (7762557)
1995
35
Acid sphingomyelinase-deficient mice mimic the neurovisceral form of human lysosomal storage disease (Niemann-Pick disease). (7600574)
1995
36
Niemann-Pick disease type C presenting as neonatal hepatitis: report of one case. (7618476)
1995
37
Specific skin lesions in a patient with Niemann-Pick disease. (7857847)
1994
38
Magnetic resonance spectroscopy in Niemann-Pick disease type C: correlation with diagnosis and clinical response to cholestyramine and lovastatin. (8060425)
1994
39
Sphingomyelinase enzyme assay in Niemann-Pick disease. (8262595)
1993
40
Type C Niemann-Pick disease in a boxer dog. (8460536)
1993
41
Niemann-Pick disease type C: diagnosis and outcome in children, with particular reference to liver disease. (7688422)
1993
42
Type C Niemann-Pick disease: cellular uncoupling of cholesterol homeostasis is linked to the severity of disruption in the intracellular transport of exogenously derived cholesterol. (2065103)
1991
43
Niemann-Pick disease types C and D. (2646522)
1989
44
Niemann-Pick disease in the Chinese. A report of four cases in three Chinese families. (2626275)
1989
45
Clinical improvement with DMSO treatment in a patient with Niemann-Pick disease (type C). (3150242)
1988
46
Biochemical and ultrastructural studies on an Epstein-Barr virus-transformed lymphoid cell line from a Niemann-Pick disease type C patient. (3015220)
1986
47
Niemann-Pick disease type C. Skin biopsies in parents. (3014367)
1986
48
Juvenile dystonic lipidosis (variant of Niemann-Pick disease type C). (6520612)
1984
49
Liver findings in Niemann-Pick disease type C. (6150908)
1984
50
Uptake and metabolism of radioactively labeled sphingomyelin in cultured skin fibroblasts from controls and patients with Niemann-Pick disease and other lysosomal storage diseases. (6626569)
1983

Variations for Pick Disease

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

62
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 Disease:

6
id Gene Variation 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 Disease

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Search GEO for disease gene expression data for Pick Disease.

Pathways for genes affiliated with Pick Disease

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Pathways related to Pick Disease according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9MAPT, PSEN1
2
Show member pathways
9.8NPC1, NPC2
39.3NPC1, NPC2, SMPD1

Compounds for genes affiliated with Pick Disease

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Compounds related to Pick Disease according to GeneCards Suite gene sharing:

(show top 50)    (show all 166)
idCompoundScoreTop Affiliating Genes
1spec-t4310.3PSEN1, MAPT
2SM(d18:1/18:1(11Z))2410.1NPC2, SMPD1
3SM(d18:1/18:1(9Z))2410.1NPC2, SMPD1
4SM(d18:1/20:0)2410.1NPC2, SMPD1
5SM(d18:1/14:0)2410.1SMPD1, NPC2
6SM(d18:1/12:0)2410.1SMPD1, NPC2
7SM(d18:0/24:1(15Z))2410.1SMPD1, NPC2
8SM(d18:0/24:0)2410.1SMPD1, NPC2
9SM(d18:1/22:0)2410.1NPC2, SMPD1
10SM(d19:1/24:1(15Z))2410.1SMPD1, NPC2
11SM(d18:1/26:0)2410.1SMPD1, NPC2
12SM(d18:1/24:1(15Z))2410.1SMPD1, NPC2
13SM(d18:1/24:0)2410.1SMPD1, NPC2
14SM(d18:1/23:0)2410.1SMPD1, NPC2
15SM(d18:1/22:1(13Z))2410.0SMPD1, NPC2
16SM(d18:0/23:0)2410.0SMPD1, NPC2
17SM(d18:0/18:0)2410.0SMPD1, NPC2
18SM(d18:0/14:0)2410.0SMPD1, NPC2
19SM(d18:0/12:0)2410.0SMPD1, NPC2
20SM(d17:1/24:1(15Z))2410.0SMPD1, NPC2
21SM(d17:1/24:0)2410.0SMPD1, NPC2
22SM(d16:1/24:1(15Z))2410.0SMPD1, NPC2
23SM(d18:0/18:1(11Z))249.9NPC2, SMPD1
24SM(d18:0/18:1(9Z))249.9NPC2, SMPD1
25SM(d18:0/22:1(13Z))249.9SMPD1, NPC2
26SM(d18:0/22:0)249.9SMPD1, NPC2
27SM(d18:0/20:0)249.8SMPD1, NPC2
28SM(d18:0/24:1(15Z)(OH))249.8NPC2, SMPD1
29clomipramine43 49 1211.7HCRT, MPZ
30SM(d18:0/16:1(9Z)(OH))249.7SMPD1, NPC2
31SM(d18:0/14:1(9Z)(OH))249.7NPC2, SMPD1
32glycolipid439.7MPZ, NPC1, NPC2
33carbachol43 28 1211.7PSEN1, MAPT, HCRT
34nmda43 2810.6MAPT, PSEN1, HCRT
35glucosylceramide43 2410.6NPC2, CHIT1, SMPD1
36SM(d18:0/26:1(17Z))249.6NPC2, SMPD1
37sterol439.4PSEN1, NPC2, NPC1L1, NPC1
38SM(d18:0/16:0)249.4SMPD1, NPC2
39methionine439.4MAPT, PSEN1, MPZ, SMPD1
40aspartate439.4MPZ, MAPT, PSEN1, SMPD1
41arginine439.3SMPD1, MAPT, PSEN1, MPZ
42ganglioside439.3NPC1, NPC2, MPZ, SMPD1
43glutamate439.1MAPT, HCRT, MPZ, PSEN1
44atp43 2810.0HCRT, SMPD1, NPC1, NPC1L1
45cysteine439.0MAPT, MPZ, SMPD1, PSEN1, NPC1
46progesterone43 28 59 24 1212.8MPZ, NPC2, APOD, NPC1
47oligonucleotide438.7SMPD1, PSEN1, APOD, HCRT
48glucose438.4HCRT, SMPD1, MAPT, PSEN1, APOD
49cholesterol43 28 24 1210.1MPZ, APOD, HCRT, PSEN1, NPC2, NPC1
50lipid436.5NPC2, PSEN1, APOD, SMPD1, HCRT, NPC1

GO Terms for genes affiliated with Pick Disease

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Cellular components related to Pick Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1rough endoplasmic reticulumGO:00057919.5PSEN1, HCRT
2lysosomeGO:00057649.1CHIT1, NPC2, NPC1
3perinuclear region of cytoplasmGO:00484718.3NPC1, PSEN1, APOD, HCRT
4endoplasmic reticulumGO:00057838.3NPC1, NPC2, PSEN1, APOD

Biological processes related to Pick Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cholesterol effluxGO:00333449.8NPC2, NPC1
2cholesterol metabolic processGO:00082039.8NPC1, NPC2
3adult walking behaviorGO:00076289.7NPC1, MAPT
4cholesterol homeostasisGO:00426329.5NPC1, NPC2
5cholesterol transportGO:00303019.4NPC1L1, NPC1, NPC2
6response to drugGO:00424938.5NPC1L1, NPC1, APOD, SMPD1

Molecular functions related to Pick Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1hedgehog receptor activityGO:00081589.3NPC1L1, NPC1
2cholesterol bindingGO:00154858.8NPC1, NPC2, APOD
3protein bindingGO:00055157.4APOD, PSEN1, MAPT, NPC2, NPC1, NPC1L1

Products for genes affiliated with Pick Disease

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  • Antibodies
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Sources for Pick Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet