MCID: KRK002
MIFTS: 17

Karak Syndrome

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Karak Syndrome

MalaCards integrated aliases for Karak Syndrome:

Name: Karak Syndrome 53 29 6 73
Early-Onset Progressive Cerebellar Ataxia Dystonia Spasticity and Intellectual Decline 53
Neurodegeneration with Brain Iron Accumulation 2 73
Atypical Neuroaxonal Dystrophy 53

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 cerebellar ataxia, muscle spasticity and seizures. An important gene associated with Karak Syndrome is PLA2G6 (Phospholipase A2 Group VI). Affiliated tissues include brain, tongue and cerebellum.

Wikipedia : 76 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 11.1
2 neurodegeneration with brain iron accumulation 2a 10.9

Symptoms & Phenotypes for Karak Syndrome

UMLS symptoms related to Karak Syndrome:


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

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 29

Anatomical Context for Karak Syndrome

MalaCards organs/tissues related to Karak Syndrome:

41
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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