MCID: FHR002
MIFTS: 12

Fahr's Syndrome malady

Summaries for Fahr's Syndrome

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44NINDS, 33MalaCards
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NINDS:44 Fahr's Syndrome is a rare, genetically dominant, inherited neurological disorder characterized by abnormal deposits of calcium in areas of the brain that control movement, including the basal ganglia and the cerebral cortex. Symptoms of the disorder may include deterioration of motor function, dementia, seizures, headache, (poorly articulated speech), (stiffness of the limbs) and spastic paralysis, eye impairments, and (involuntary, writhing movements). Fahr's Syndrome can also include symptoms characteristic of Parkinson's disease such as tremors, muscle rigidity, a mask-like facial appearance, shuffling gait, and a "pill-rolling" motion of the fingers. These symptoms generally occur later in the development of the disease. More common symptoms include dystonia (disordered muscle tone) and chorea (involuntary, rapid, jerky movements). Age of onset is typically in the 40s or 50s, although it can occur at any time in childhood or adolescence.

MalaCards: Fahr's Syndrome An important gene associated with Fahr's Syndrome is SNCA (synuclein, alpha (non A4 component of amyloid precursor)). Affiliated tissues include brain, cortex and thyroid.

Aliases & Classifications for Fahr's Syndrome

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44NINDS, 61UMLS
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Aliases & Descriptions:

fahr's syndrome 44 61


Related Diseases for Fahr's Syndrome

Clinical Features for Fahr's Syndrome

Drugs & Therapeutics for Fahr's Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Fahr's Syndrome

Anatomical Context for Fahr's Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Fahr's Syndrome:

33
Brain, Cortex, Thyroid

Animal Models for Fahr's Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Fahr's Syndrome

Sources:
51PubMed
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Articles related to Fahr's Syndrome:

(show all 31)
idTitleAuthorsYear
1
A new gene for Fahr's syndrome-PDGF-B. (24390807)
2014
2
Fahr's Syndrome- An Interesting Case Presentation. (23634413)
2013
3
Fahr's syndrome: literature review of current evidence. (24098952)
2013
4
The Fahr syndrome and the chronic lymphocytic thyroiditis. (23529330)
2013
5
A comorbid case of familial Idiopathic Basal Ganglia Calcification ("FahrA's Disease") associated with post-polio syndrome. (22772679)
2012
6
Hypoglycemia-induced hemichorea in a patient with Fahr's syndrome. (22526769)
2012
7
A fatal Mycobacterium chelonae infection in an immunosuppressed patient with systemic lupus erythematosus and concomitant Fahr's syndrome. (20803049)
2011
8
Ability to cycle despite severe freezing of gait in atypical parkinsonism in Fahr's syndrome. (21626563)
2011
9
Fahr's syndrome: report of two cases. (21510578)
2010
10
Bilateral striopallidodentate calcinosis (Fahr's syndrome): an unusual cause of syncope. (21048559)
2010
11
Recurrent syncope and hypocalcaemic cardiomyopathy as manifestations of Fahr's syndrome. (22371731)
2010
12
Fahr's syndrome: diagnosis issues in patients with unknown family history of disease. (19690769)
2009
13
Capgras syndrome associated with Fahr's disease. (19776329)
2009
14
Dementia in a patient with Fahr's syndrome. (18766160)
2008
15
Teaching video NeuroImage: Chvostek sign with Fahr syndrome in a patient with hypoparathyroidism. (19064874)
2008
16
Bilateral striopallidodentate calcification (Fahr's syndrome) and multiple system atrophy in a patient with longstanding hypoparathyroidism. (18018479)
2007
17
Fahr's syndrome presenting with pure and progressive presenile dementia. (16388376)
2005
18
Computerized tomography findings in Fahr's syndrome. (15476070)
2004
19
Corticobasal degeneration syndrome with basal ganglia calcification: Fahr's disease as a corticobasal look-alike? (12621646)
2003
20
Corticobasal degeneration syndrome with basal ganglia calcification: Fahr's disease as a corticobasal look-alike? (12112208)
2002
21
Fahr's disease and Asperger's syndrome in a patient with primary hypoparathyroidism. (10671127)
2000
22
Non-Alzheimer non-Pick dementia with Fahr's syndrome. (1424319)
1992
23
Fahr's syndrome. A case report. (2028737)
1991
24
Abnormal systemic metabolism of iron, porphyrin, and calcium in Fahr's syndrome. (2817830)
1989
25
Encephalopathy with calcifications of the basal ganglia in children. A reappraisal of Fahr's syndrome with respect to 14 new cases. (2654691)
1989
26
Unusual cases of presenile dementia with Fahr's syndrome. (3773356)
1986
27
Fahr's syndrome: local inflammatory factors in the pathogenesis of calcification. (3950660)
1986
28
Contribution of CT scan to the diagnosis of Fahr's syndrome. (3993326)
1985
29
Initial psychopathological alterations in Fahr's syndrome: a preliminary report. (7082710)
1982
30
Biochemical evidence of dopaminergic involvement in Fahr's syndrome. (7211512)
1980
31
Laser-spectrographic analysis of the cation content in Fahr's syndrome. (678079)
1978

Genetic Variations for Fahr's Syndrome

Expression for genes affiliated with Fahr's Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Fahr's Syndrome

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Pathways for genes affiliated with Fahr's Syndrome

Compounds for genes affiliated with Fahr's Syndrome

GO Terms for genes affiliated with Fahr's Syndrome

Products for genes affiliated with Fahr's Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Fahr's Syndrome

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