MCID: FHR002
MIFTS: 16

Fahr's Syndrome malady

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Summaries for Fahr's Syndrome

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NINDS:43 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 based summary: Fahr's Syndrome An important gene associated with Fahr's Syndrome is SLC20A2 (solute carrier family 20 (phosphate transporter), member 2). The compounds serine and arginine have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and cortex, and related mouse phenotype skeleton.

Aliases & Classifications for Fahr's Syndrome

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Fahr's Syndrome, Aliases & Descriptions:

Name: Fahr's Syndrome 43 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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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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MalaCards organs/tissues related to Fahr's Syndrome:

32
Eye, Brain, Cortex

Animal Models for Fahr's Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Fahr's Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053909.1SLC20A2, SNCA

Publications for Fahr's Syndrome

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Articles related to Fahr's Syndrome:

(show all 28)
idTitleAuthorsYear
1
Image of the month: diffuse intracranial calcinosis Fahr's Syndrome. (25099855)
2014
2
A new gene for Fahr's syndrome-PDGF-B. (24390807)
2014
3
A case of psychosis due to Fahr's syndrome and response to behavioral disturbances with risperidone and oxcarbazepine. (24891710)
2014
4
Symptomatic striopallidodentate calcinosis (Fahr's syndrome) in a thalassemic patient with hypoparathyroidism. (25377047)
2014
5
Ataxic dysarthria revealing Fahr's syndrome and hypoparathyroidism. (25048099)
2014
6
Fahr's Syndrome- An Interesting Case Presentation. (23634413)
2013
7
Fahr's syndrome: literature review of current evidence. (24098952)
2013
8
Hypoglycemia-induced hemichorea in a patient with Fahr's syndrome. (22526769)
2012
9
A fatal Mycobacterium chelonae infection in an immunosuppressed patient with systemic lupus erythematosus and concomitant Fahr's syndrome. (20803049)
2011
10
Ability to cycle despite severe freezing of gait in atypical parkinsonism in Fahr's syndrome. (21626563)
2011
11
Fahr's syndrome: report of two cases. (21510578)
2010
12
Bilateral striopallidodentate calcinosis (Fahr's syndrome): an unusual cause of syncope. (21048559)
2010
13
Recurrent syncope and hypocalcaemic cardiomyopathy as manifestations of Fahr's syndrome. (22371731)
2010
14
Fahr's syndrome: diagnosis issues in patients with unknown family history of disease. (19690769)
2009
15
Dementia in a patient with Fahr's syndrome. (18766160)
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
Non-Alzheimer non-Pick dementia with Fahr's syndrome. (1424319)
1992
20
Fahr's syndrome. A case report. (2028737)
1991
21
Abnormal systemic metabolism of iron, porphyrin, and calcium in Fahr's syndrome. (2817830)
1989
22
Encephalopathy with calcifications of the basal ganglia in children. A reappraisal of Fahr's syndrome with respect to 14 new cases. (2654691)
1989
23
Unusual cases of presenile dementia with Fahr's syndrome. (3773356)
1986
24
Fahr's syndrome: local inflammatory factors in the pathogenesis of calcification. (3950660)
1986
25
Contribution of CT scan to the diagnosis of Fahr's syndrome. (3993326)
1985
26
Initial psychopathological alterations in Fahr's syndrome: a preliminary report. (7082710)
1982
27
Biochemical evidence of dopaminergic involvement in Fahr's syndrome. (7211512)
1980
28
Laser-spectrographic analysis of the cation content in Fahr's syndrome. (678079)
1978

Variations for Fahr's Syndrome

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Clinvar genetic disease variations for Fahr's Syndrome:

6
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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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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Sources:
44Novoseek
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Compounds related to Fahr's Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1serine449.1SLC20A2, SNCA
2arginine449.0SLC20A2, SNCA
3alanine448.8SLC20A2, SNCA

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

Sources for Fahr's Syndrome

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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