MCID: KLF002
MIFTS: 25

Kleefstra Syndrome Due to a Point Mutation

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

Aliases & Classifications for Kleefstra Syndrome Due to a Point Mutation

Summaries for Kleefstra Syndrome Due to a Point Mutation

MalaCards based summary : Kleefstra Syndrome Due to a Point Mutation is related to kleefstra syndrome and kleefstra syndrome 1. 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. Affiliated tissues include brain, heart and kidney, and related phenotypes are intellectual disability and global developmental delay

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 9.7 KMT2C EHMT1
2 kleefstra syndrome 1 9.7 KMT2C EHMT1
3 kabuki syndrome 1 9.6 KMT2C EHMT1
4 alacrima, achalasia, and mental retardation syndrome 9.6 KMT2C EHMT1
5 autism spectrum disorder 9.5 KMT2C EHMT1

Graphical network of the top 20 diseases related to Kleefstra Syndrome Due to a Point Mutation:



Diseases related to Kleefstra Syndrome Due to a Point Mutation

Symptoms & Phenotypes for Kleefstra Syndrome Due to a Point Mutation

Human phenotypes related to Kleefstra Syndrome Due to a Point Mutation:

58 31 (show top 50) (show all 51)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 abnormal facial shape 58 31 hallmark (90%) Very frequent (99-80%) HP:0001999
4 abnormality of the genital system 58 31 frequent (33%) Frequent (79-30%) HP:0000078
5 recurrent infections 58 31 frequent (33%) Frequent (79-30%) HP:0002719
6 abnormal heart morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001627
7 brain imaging abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0410263
8 overgrowth 58 31 frequent (33%) Frequent (79-30%) HP:0001548
9 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
10 self-injurious behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0100716
11 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
12 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
13 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
14 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
15 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
16 thick lower lip vermilion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000179
17 vesicoureteral reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0000076
18 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
19 abnormality of the kidney 58 31 occasional (7.5%) Occasional (29-5%) HP:0000077
20 midface retrusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0011800
21 cerebellar hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001321
22 large for gestational age 58 31 occasional (7.5%) Occasional (29-5%) HP:0001520
23 hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002079
24 delayed gross motor development 58 31 occasional (7.5%) Occasional (29-5%) HP:0002194
25 autistic behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000729
26 uplifted earlobe 58 31 occasional (7.5%) Occasional (29-5%) HP:0009909
27 language impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0002463
28 moderate receptive language delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0011351
29 severe expressive language delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0006863
30 abnormal shape of the palpebral fissure 58 31 occasional (7.5%) Occasional (29-5%) HP:0200005
31 seizure 31 occasional (7.5%) HP:0001250
32 precocious puberty 58 31 very rare (1%) Very rare (<4-1%) HP:0000826
33 umbilical hernia 58 31 very rare (1%) Very rare (<4-1%) HP:0001537
34 brachycephaly 58 31 very rare (1%) Very rare (<4-1%) HP:0000248
35 anal atresia 58 31 very rare (1%) Very rare (<4-1%) HP:0002023
36 hyperextensible skin 58 31 very rare (1%) Very rare (<4-1%) HP:0000974
37 tracheomalacia 58 31 very rare (1%) Very rare (<4-1%) HP:0002779
38 tapered finger 58 31 very rare (1%) Very rare (<4-1%) HP:0001182
39 plagiocephaly 58 31 very rare (1%) Very rare (<4-1%) HP:0001357
40 developmental cataract 58 31 very rare (1%) Very rare (<4-1%) HP:0000519
41 hypermetropia 58 31 very rare (1%) Very rare (<4-1%) HP:0000540
42 natal tooth 58 31 very rare (1%) Very rare (<4-1%) HP:0000695
43 gliosis 58 31 very rare (1%) Very rare (<4-1%) HP:0002171
44 hypotonia 31 very rare (1%) HP:0001252
45 seizures 58 Occasional (29-5%)
46 muscular hypotonia 58 Very rare (<4-1%)
47 behavioral abnormality 58 Frequent (79-30%)
48 abnormality of the dentition 58 Very rare (<4-1%)
49 delayed speech and language development 58 Occasional (29-5%)
50 motor delay 58 Occasional (29-5%)

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

MalaCards organs/tissues related to Kleefstra Syndrome Due to a Point Mutation:

40
Brain, Heart, Kidney

Publications for Kleefstra Syndrome Due to a Point Mutation

Variations for Kleefstra Syndrome Due to a Point Mutation

ClinVar genetic disease variations for Kleefstra Syndrome Due to a Point Mutation:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KMT2C NM_170606.3(KMT2C):c.3462del (p.Leu1155_Val1156insTer) Deletion Pathogenic 667417 rs1588343792 GRCh37: 7:151919123-151919123
GRCh38: 7:152222038-152222038

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 KMT2C EHMT1
2
Show member pathways
11.11 KMT2C EHMT1
3 10.42 KMT2C EHMT1

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 8.96 KMT2C EHMT1
2 methylation GO:0032259 8.62 KMT2C EHMT1

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 8.62 KMT2C EHMT1

Sources for Kleefstra Syndrome Due to a Point Mutation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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