MCID: KFR001
MIFTS: 35

Kufor-Rakeb Syndrome malady

Categories: Genetic diseases, Neuronal diseases, Eye diseases, Rare diseases, Mental diseases

Aliases & Classifications for Kufor-Rakeb Syndrome

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Sources:
49OMIM, 22GeneTests, 51Orphanet, 67UniProtKB/Swiss-Prot, 65UMLS, 24GTR, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
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Aliases & Descriptions for Kufor-Rakeb Syndrome:

Name: Kufor-Rakeb Syndrome 49 22 51 67 65
Ceroid Lipofuscinosis, Neuronal, 12 49 67 65
Parkinson Disease 9 67 24
Park9 51 67
Pallidopyramidal Degeneration with Supranuclear Upgaze Paresis and Dementia 67
 
Parkinson Disease Autosomal Recessive 9 67
Krppd 67
Cln12 67
Krs 67

Characteristics:

HPO:

61
kufor-rakeb syndrome:
Onset and clinical course: rapidly progressive
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 606693
Orphanet51 306674
ICD10 via Orphanet28 G23.0
UMLS via Orphanet66 C1847640
UMLS65 C1847640, C3715048

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 cln12 disease and parkinson disease type 9, and has symptoms including distal sensory impairment, seizures and hyposmia. An important gene associated with Kufor-Rakeb Syndrome is ATP13A2 (ATPase 13A2). Affiliated tissues include brain, eye and heart.

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

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, Heart

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
Follicles, germinal centers and immune mechanisms in primary biliary cirrhosis. (25294750)
2014
2
Heat shock protein 70 regulates Tcl1 expression in leukemia and lymphomas. (23160471)
2013
3
Epithelial-mesenchymal transdifferentiation of renal tubular epithelial cells induced by urinary proteins requires the activation of PKC-I+ and I^I isozymes. (21323641)
2011
4
Expression of heat shock proteins and nitrotyrosine in small arteries from patients with coronary heart disease. (19626397)
2009
5
Autoimmune hypoparathyroidism in a 12-year-old girl with McKusick cartilage hair hypoplasia. (19626344)
2009
6
The N-terminal of icatibant and bradykinin interact with the same Asp residues in the human B2 receptor. (15140628)
2004
7
Cloning and high expression of rabbit FKBP25 in cornea. (8876379)
1996
8
Gonadotropins, estradiol, and growth factors regulate epithelial ovarian cancer cell growth. (1326473)
1992
9
Pulmonary sequestration complicated by anomalies of pulmonary venous return. (3973816)
1985

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