MCID: KLF002
MIFTS: 13

Kleefstra Syndrome Due to a Point Mutation

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

Aliases & Classifications for Kleefstra Syndrome Due to a Point Mutation

MalaCards integrated aliases for Kleefstra Syndrome Due to a Point Mutation:

Name: Kleefstra Syndrome Due to a Point Mutation 59

Characteristics:

Orphanet epidemiological data:

59
kleefstra syndrome due to a point mutation
Prevalence: <1/1000000 (Worldwide);

Classifications:



External Ids:

Orphanet 59 ORPHA261652
ICD10 via Orphanet 34 Q87.8

Summaries for Kleefstra Syndrome Due to a Point Mutation

MalaCards based summary : Kleefstra Syndrome Due to a Point Mutation is related to kleefstra syndrome. An important gene associated with Kleefstra Syndrome Due to a Point Mutation is KMT2C (Lysine Methyltransferase 2C), and among its related pathways/superpathways are Chromatin organization and PKMTs methylate histone lysines.

Related Diseases for Kleefstra Syndrome Due to a Point Mutation

Diseases in the Kleefstra Syndrome family:

Kleefstra Syndrome 1 Kleefstra Syndrome 2
Kleefstra Syndrome Due to a Point Mutation

Diseases related to Kleefstra Syndrome Due to a Point Mutation via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 kleefstra syndrome 9.0 EHMT1 KMT2C

Symptoms & Phenotypes for Kleefstra Syndrome Due to a Point Mutation

Drugs & Therapeutics for Kleefstra Syndrome Due to a Point Mutation

Search Clinical Trials , NIH Clinical Center for Kleefstra Syndrome Due to a Point Mutation

Genetic Tests for Kleefstra Syndrome Due to a Point Mutation

Anatomical Context for Kleefstra Syndrome Due to a Point Mutation

Publications for Kleefstra Syndrome Due to a Point Mutation

Variations for Kleefstra Syndrome Due to a Point Mutation

Expression for Kleefstra Syndrome Due to a Point Mutation

Search GEO for disease gene expression data for Kleefstra Syndrome Due to a Point Mutation.

Pathways for Kleefstra Syndrome Due to a Point Mutation

Pathways related to Kleefstra Syndrome Due to a Point Mutation according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12 EHMT1 KMT2C
2
Show member pathways
11.11 EHMT1 KMT2C
3 10.39 EHMT1 KMT2C

GO Terms for Kleefstra Syndrome Due to a Point Mutation

Biological processes related to Kleefstra Syndrome Due to a Point Mutation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin organization GO:0006325 9.16 EHMT1 KMT2C
2 methylation GO:0032259 8.96 EHMT1 KMT2C
3 histone lysine methylation GO:0034968 8.62 EHMT1 KMT2C

Molecular functions related to Kleefstra Syndrome Due to a Point Mutation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 methyltransferase activity GO:0008168 8.96 EHMT1 KMT2C
2 histone-lysine N-methyltransferase activity GO:0018024 8.62 EHMT1 KMT2C

Sources for Kleefstra Syndrome Due to a Point Mutation

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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