MCID: KFR001
MIFTS: 33

Kufor-Rakeb Syndrome malady

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

Aliases & Classifications for Kufor-Rakeb Syndrome

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Sources:
49OMIM, 22GeneTests, 51Orphanet, 65UMLS, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
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Aliases & Descriptions for Kufor-Rakeb Syndrome:

Name: Kufor-Rakeb Syndrome 49 22 51 65 67
Ceroid Lipofuscinosis, Neuronal, 12 49 67
Park9 51 67
Pallidopyramidal Degeneration with Supranuclear Upgaze Paresis and Dementia 67
Parkinson Disease Autosomal Recessive 9 67
 
Parkinson Disease 9 67
Krppd 67
Cln12 67
Krs 67


Classifications:



External Ids:

OMIM49 606693
Orphanet51 306674
ICD10 via Orphanet28 G23.0
UMLS via Orphanet66 C1847640

Summaries for Kufor-Rakeb Syndrome

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UniProtKB/Swiss-Prot:67 Ceroid lipofuscinosis, neuronal, 12: A form of neuronal ceroid lipofuscinosis characterized by rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy. Cognitive decline may also occur. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material. Kufor-Rakeb syndrome: A rare form of autosomal recessive juvenile or early-onset, levodopa- responsive parkinsonism. In addition to typical parkinsonian signs, clinical manifestations of Kufor-Rakeb syndrome include behavioral problems, facial tremor, pyramidal tract dysfunction, supranuclear gaze palsy, and dementia.

MalaCards based summary: Kufor-Rakeb Syndrome, also known as ceroid lipofuscinosis, neuronal, 12, is related to dementia and parkinson disease type 9, and has symptoms including seizures, distal sensory impairment and autosomal recessive inheritance. An important gene associated with Kufor-Rakeb Syndrome is ATP13A2 (ATPase Type 13A2). Affiliated tissues include brain and eye.

OMIM:49 Kufor-Rakeb syndrome is a rare autosomal recessive form of juvenile-onset atypical Parkinson disease (PARK9) associated... (606693) more...

Related Diseases for Kufor-Rakeb Syndrome

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Diseases related to Kufor-Rakeb Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1dementia10.6
2parkinson disease type 910.6
3parkinson disease, late-onset10.4
4neurodegeneration with brain iron accumulation 110.4
5cln12 disease10.3
6long qt syndrome10.3
7ceroid lipofuscinosis, neuronal, 110.1
8short qt syndrome10.1
9autonomic dysfunction10.1
10hypoxia10.1

Graphical network of diseases related to Kufor-Rakeb Syndrome:



Diseases related to kufor-rakeb syndrome

Symptoms for Kufor-Rakeb Syndrome

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Symptoms by clinical synopsis from OMIM:

606693

Clinical features from OMIM:

606693

HPO human phenotypes related to Kufor-Rakeb Syndrome:

(show all 26)
id Description Frequency HPO Source Accession
1 seizures rare (5%) HP:0001250
2 distal sensory impairment rare (5%) HP:0002936
3 autosomal recessive inheritance HP:0000007
4 mask-like facies HP:0000298
5 anosmia HP:0000458
6 torticollis HP:0000473
7 slow saccadic eye movements HP:0000514
8 supranuclear gaze palsy HP:0000605
9 aggressive behavior HP:0000718
10 psychotic episodes HP:0000725
11 dementia HP:0000726
12 hallucinations HP:0000738
13 spasticity HP:0001257
14 parkinsonism HP:0001300
15 myoclonus HP:0001336
16 hyperreflexia HP:0001347
17 rigidity HP:0002063
18 postural instability HP:0002172
19 akinesia HP:0002304
20 hypokinesia HP:0002375
21 paraparesis HP:0002385
22 anarthria HP:0002425
23 parkinsonism with favorable response to dopaminergic medication HP:0002548
24 babinski sign HP:0003487
25 rapidly progressive HP:0003678
26 hyposmia HP:0004409

Drugs & Therapeutics for Kufor-Rakeb Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Genetic Study in Young Onset Parkinson's DiseaseActive, not recruitingNCT01529970

Search NIH Clinical Center for Kufor-Rakeb Syndrome

Genetic Tests for Kufor-Rakeb Syndrome

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Genetic tests related to Kufor-Rakeb Syndrome:

id Genetic test Affiliating Genes
1 Kufor-Rakeb Syndrome22 ATP13A2

Anatomical Context for Kufor-Rakeb Syndrome

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MalaCards organs/tissues related to Kufor-Rakeb Syndrome:

33
Brain, Eye

Animal Models for Kufor-Rakeb Syndrome or affiliated genes

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Publications for Kufor-Rakeb Syndrome

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Articles related to Kufor-Rakeb Syndrome:

idTitleAuthorsYear
1
Electron-dense lamellated inclusions in 2 siblings with Kufor-Rakeb syndrome. (23630171)
2013
2
Altered apoptosis regulation in Kufor-Rakeb syndrome patients with mutations in the ATP13A2 gene. (22117566)
2012
3
ATP13A2 mutations impair mitochondrial function in fibroblasts from patients with Kufor-Rakeb syndrome. (22296644)
2012
4
Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9). (21696388)
2012
5
Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism. (21542062)
2011
6
Regulation of intracellular manganese homeostasis by Kufor-Rakeb syndrome-associated ATP13A2 protein. (21724849)
2011
7
Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations. (20683840)
2010
8
Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36. (11584046)
2001
9
Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome. (8085432)
1994

Variations for Kufor-Rakeb Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Kufor-Rakeb Syndrome:

67
id Symbol AA change Variation ID SNP ID
1ATP13A2p.Gly504ArgVAR_058455rs121918227
2ATP13A2p.Phe182LeuVAR_066019
3ATP13A2p.Gly877ArgVAR_066020
4ATP13A2p.Leu1059ArgVAR_066021
5ATP13A2p.Met854ArgVAR_070194

Clinvar genetic disease variations for Kufor-Rakeb Syndrome:

5 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1ATP13A2ATP13A2, 1-BP DEL, 3057CdeletionPathogenic
2ATP13A2NM_022089.3(ATP13A2): c.1306+5G> Asingle nucleotide variantPathogenicrs786205056GRCh37Chr 1, 17322876: 17322876
3ATP13A2ATP13A2, 22-BP DUPduplicationPathogenic
4ATP13A2NM_022089.3(ATP13A2): c.1510G> C (p.Gly504Arg)single nucleotide variantPathogenicrs121918227GRCh37Chr 1, 17322503: 17322503
5ATP13A2NM_022089.3(ATP13A2): c.490C> T (p.Arg164Trp)single nucleotide variantPathogenicrs199624796GRCh37Chr 1, 17330894: 17330894
6ATP13A2NM_022089.3(ATP13A2): c.348-9_351deldeletionPathogenicrs749798211GRCh38Chr 1, 17004818: 17004830
7ATP13A2NM_022089.3(ATP13A2): c.943G> A (p.Gly315Arg)single nucleotide variantLikely pathogenicrs150519745GRCh38Chr 1, 17000107: 17000107
8ATP13A2NM_022089.3(ATP13A2): c.1101_1102dupGA (p.Thr368Argfs)duplicationPathogenicrs762033589GRCh37Chr 1, 17323608: 17323609
9ATP13A2NM_022089.3(ATP13A2): c.2552_2553delTT (p.Phe851Cysfs)deletionPathogenicrs587776890GRCh37Chr 1, 17316242: 17316243
10ATP13A2NM_022089.3(ATP13A2): c.2561T> G (p.Met854Arg)single nucleotide variantPathogenicrs587777053GRCh37Chr 1, 17316234: 17316234
11ATP13A2NM_022089.3(ATP13A2): c.2629G> A (p.Gly877Arg)single nucleotide variantPathogenicrs144701072GRCh37Chr 1, 17314950: 17314950

Expression for genes affiliated with Kufor-Rakeb Syndrome

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Search GEO for disease gene expression data for Kufor-Rakeb Syndrome.

Pathways for genes affiliated with Kufor-Rakeb Syndrome

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GO Terms for genes affiliated with Kufor-Rakeb Syndrome

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Sources for Kufor-Rakeb Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet