MCID: KFR001
MIFTS: 27

Kufor-Rakeb Syndrome malady

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

Aliases & Classifications for Kufor-Rakeb Syndrome

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Sources:
45OMIM, 20GeneTests, 47Orphanet, 60UMLS, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Kufor-Rakeb Syndrome, Aliases & Descriptions:

Name: Kufor-Rakeb Syndrome 45 20 47 60
Ceroid Lipofuscinosis, Neuronal, 12 45
 
Park9 47


Classifications:

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


External Ids:

OMIM45 606693
Orphanet47 306674
ICD10 via Orphanet26 G23.0
UMLS via Orphanet61 C1847640

Summaries for Kufor-Rakeb Syndrome

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OMIM:45 Kufor-Rakeb syndrome is a rare autosomal recessive form of juvenile-onset atypical Parkinson disease (PARK9) associated... (606693) more...

MalaCards based summary: Kufor-Rakeb Syndrome, also known as ceroid lipofuscinosis, neuronal, 12, is related to parkinson disease, late-onset 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.

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
1parkinson disease, late-onset10.6
2parkinson disease type 910.6
3neurodegeneration with brain iron accumulation 110.4
4dementia10.4
5autonomic dysfunction10.1
6hypoxia10.1

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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Drug clinical trials:

Search ClinicalTrials for Kufor-Rakeb Syndrome

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 Syndrome20 ATP13A2

Anatomical Context for Kufor-Rakeb Syndrome

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MalaCards organs/tissues related to Kufor-Rakeb Syndrome:

31
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
Altered apoptosis regulation in Kufor-Rakeb syndrome patients with mutations in the ATP13A2 gene. (22117566)
2012
2
ATP13A2 mutations impair mitochondrial function in fibroblasts from patients with Kufor-Rakeb syndrome. (22296644)
2012
3
Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9). (21696388)
2012
4
Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism. (21542062)
2011
5
Regulation of intracellular manganese homeostasis by Kufor-Rakeb syndrome-associated ATP13A2 protein. (21724849)
2011
6
Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations. (20683840)
2010
7
Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36. (11584046)
2001

Variations for Kufor-Rakeb Syndrome

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

62
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:

6
id Gene Variation Type Significance SNP ID Assembly Location
1ATP13A2ATP13A2, 1-BP DEL, 3057CdeletionPathogenic
2ATP13A2ATP13A2, IVS13, G-A, +5single nucleotide variantPathogenic
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 variantPathogenicGRCh37Chr 1, 17330894: 17330894
6ATP13A2ATP13A2, 2-BP INS, 1103GAinsertionPathogenic
7ATP13A2NM_022089.3(ATP13A2): c.2552_2553delTT (p.Phe851Cysfs)deletionPathogenicGRCh37Chr 1, 17316242: 17316243
8ATP13A2NM_001141974.2(ATP13A2): c.2429T> G (p.Met810Arg)single nucleotide variantPathogenicGRCh37Chr 1, 17316234: 17316234
9ATP13A2ATP13A2, GLY877ARGsingle nucleotide variantPathogenic

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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Compounds for genes affiliated with Kufor-Rakeb Syndrome

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GO Terms for genes affiliated with Kufor-Rakeb Syndrome

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Products for genes affiliated with Kufor-Rakeb Syndrome

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Sources for Kufor-Rakeb Syndrome

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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