MCID: FHR002
MIFTS: 11

Fahr's Syndrome malady

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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 eye, brain and cortex.

Aliases & Classifications for Fahr's Syndrome

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44NINDS, 62UMLS
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Aliases & Descriptions:

fahr's syndrome 44 62


Related Diseases for Fahr's Syndrome

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Symptoms for Fahr's Syndrome

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Drugs & Therapeutics for Fahr's Syndrome

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Genetic Tests for Fahr's Syndrome

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Anatomical Context for Fahr's Syndrome

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

33
Eye, Brain, Cortex

Animal Models for Fahr's Syndrome or affiliated genes

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Publications for Fahr's Syndrome

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52PubMed
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Articles related to Fahr's Syndrome:

(show all 24)
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
Hypoglycemia-induced hemichorea in a patient with Fahr's syndrome. (22526769)
2012
5
A fatal Mycobacterium chelonae infection in an immunosuppressed patient with systemic lupus erythematosus and concomitant Fahr's syndrome. (20803049)
2011
6
Ability to cycle despite severe freezing of gait in atypical parkinsonism in Fahr's syndrome. (21626563)
2011
7
Fahr's syndrome: report of two cases. (21510578)
2010
8
Bilateral striopallidodentate calcinosis (Fahr's syndrome): an unusual cause of syncope. (21048559)
2010
9
Recurrent syncope and hypocalcaemic cardiomyopathy as manifestations of Fahr's syndrome. (22371731)
2010
10
Fahr's syndrome: diagnosis issues in patients with unknown family history of disease. (19690769)
2009
11
Dementia in a patient with Fahr's syndrome. (18766160)
2008
12
Bilateral striopallidodentate calcification (Fahr's syndrome) and multiple system atrophy in a patient with longstanding hypoparathyroidism. (18018479)
2007
13
Fahr's syndrome presenting with pure and progressive presenile dementia. (16388376)
2005
14
Computerized tomography findings in Fahr's syndrome. (15476070)
2004
15
Non-Alzheimer non-Pick dementia with Fahr's syndrome. (1424319)
1992
16
Fahr's syndrome. A case report. (2028737)
1991
17
Abnormal systemic metabolism of iron, porphyrin, and calcium in Fahr's syndrome. (2817830)
1989
18
Encephalopathy with calcifications of the basal ganglia in children. A reappraisal of Fahr's syndrome with respect to 14 new cases. (2654691)
1989
19
Unusual cases of presenile dementia with Fahr's syndrome. (3773356)
1986
20
Fahr's syndrome: local inflammatory factors in the pathogenesis of calcification. (3950660)
1986
21
Contribution of CT scan to the diagnosis of Fahr's syndrome. (3993326)
1985
22
Initial psychopathological alterations in Fahr's syndrome: a preliminary report. (7082710)
1982
23
Biochemical evidence of dopaminergic involvement in Fahr's syndrome. (7211512)
1980
24
Laser-spectrographic analysis of the cation content in Fahr's syndrome. (678079)
1978

Variations for Fahr's Syndrome

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Fahr's Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1SLC20A2NM_006749.4(SLC20A2): c.1802C> G (p.Ser601Trp)single nucleotide variantPathogenicrs387906652GRCh37Chr 8, 42275478: 42275478
2SLC20A2NM_006749.4(SLC20A2): c.1802C> T (p.Ser601Leu)single nucleotide variantPathogenicrs387906652GRCh37Chr 8, 42275478: 42275478
3SLC20A2NM_006749.4(SLC20A2): c.1723G> A (p.Glu575Lys)single nucleotide variantPathogenicrs387906653GRCh37Chr 8, 42286347: 42286347
4SLC20A2NM_006749.4(SLC20A2): c.1784C> T (p.Thr595Met)single nucleotide variantPathogenicrs387906654GRCh37Chr 8, 42286286: 42286286
5SLC20A2NM_006749.4(SLC20A2): c.508delT (p.Leu170Terfs)deletionPathogenicrs398122395GRCh37Chr 8, 42320531: 42320531
6SLC20A2NM_006749.4(SLC20A2): c.1828_1831delTCCC (p.Ser610Alafs)deletionPathogenicrs398122396GRCh37Chr 8, 42275449: 42275452
7SLC20A2NM_006749.4(SLC20A2): c.583_584delGT (p.Val195Leufs)deletionPathogenicrs398122397GRCh37Chr 8, 42317443: 42317444

Expression for genes affiliated with Fahr's Syndrome

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2BioGPS, 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

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Compounds for genes affiliated with Fahr's Syndrome

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GO Terms for genes affiliated with Fahr's Syndrome

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Products for genes affiliated with Fahr's Syndrome

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  • Antibodies
  • Proteins
  • Lysates
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Sources for Fahr's Syndrome

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet