MCID: KRK002
MIFTS: 17

Karak Syndrome

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Karak Syndrome

MalaCards integrated aliases for Karak Syndrome:

Name: Karak Syndrome 54 30 6 74
Early-Onset Progressive Cerebellar Ataxia Dystonia Spasticity and Intellectual Decline 54
Neurodegeneration with Brain Iron Accumulation 2 74
Atypical Neuroaxonal Dystrophy 54

Classifications:



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Summaries for Karak Syndrome

MalaCards based summary : Karak Syndrome, also known as early-onset progressive cerebellar ataxia dystonia spasticity and intellectual decline, is related to neurodegeneration with brain iron accumulation 2b and neurodegeneration with brain iron accumulation 2a, and has symptoms including seizures, gait ataxia and dysdiadochokinesis. An important gene associated with Karak Syndrome is PLA2G6 (Phospholipase A2 Group VI). Affiliated tissues include brain, tongue and cerebellum.

Wikipedia : 77 Karak syndrome is a neurological degenerative disorder involving excess cerebral iron accumulation. The... more...

Related Diseases for Karak Syndrome

Diseases related to Karak Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 neurodegeneration with brain iron accumulation 2b 11.3
2 neurodegeneration with brain iron accumulation 2a 11.1

Symptoms & Phenotypes for Karak Syndrome

UMLS symptoms related to Karak Syndrome:


seizures, gait ataxia, dysdiadochokinesis, action tremor, bradykinesia, cerebellar ataxia, muscle spasticity

Drugs & Therapeutics for Karak Syndrome

Search Clinical Trials , NIH Clinical Center for Karak Syndrome

Genetic Tests for Karak Syndrome

Genetic tests related to Karak Syndrome:

# Genetic test Affiliating Genes
1 Karak Syndrome 30

Anatomical Context for Karak Syndrome

MalaCards organs/tissues related to Karak Syndrome:

42
Brain, Tongue, Cerebellum

Publications for Karak Syndrome

Articles related to Karak Syndrome:

# Title Authors Year
1
Karak syndrome: a novel degenerative disorder of the basal ganglia and cerebellum. ( 12843330 )
2003

Variations for Karak Syndrome

ClinVar genetic disease variations for Karak Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PLA2G6 NM_003560.3(PLA2G6): c.1894C> T (p.Arg632Trp) single nucleotide variant Pathogenic rs121908683 GRCh37 Chromosome 22, 38511674: 38511674
2 PLA2G6 NM_003560.3(PLA2G6): c.1894C> T (p.Arg632Trp) single nucleotide variant Pathogenic rs121908683 GRCh38 Chromosome 22, 38115667: 38115667

Expression for Karak Syndrome

Search GEO for disease gene expression data for Karak Syndrome.

Pathways for Karak Syndrome

GO Terms for Karak Syndrome

Sources for Karak Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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