Kleefstra Syndrome

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

Aliases & Classifications for Kleefstra Syndrome

Summaries for Kleefstra Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 261494 Definition Kleefstra syndrome (KS) is a genetic disorder characterized by intellectual disability , childhood hypotonia , severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features. Epidemiology The prevalence is unknown. To date, 114 cases have been described. Clinical description Patients with KS have a distinctive facial appearance comprised of brachy-microcephaly , midface hypoplasia, unusual eyebrow shape, synophyrs, cupid bow upper lip, full everted lower lip, protruding tongue and prognathism. With age, facial features become coarser and dental anomalies, like retention of primary dentition, are seen. Birth weight is normal but half of children go on to suffer from obesity. Childhood hypotonia causes motor delay but most children walk independently by age 2 or 3. Most patients have moderate to severe intellectual disability with expressive speech delay and little speech development (nonverbal communication is possible). Additional features include congenital heart malformations (interauricular communication, ventricular septal defects, bicuspid aortic valve, pulmonary valve stenosis (see these terms)), genital defects in males (hypospadias, cryptorchidism, micropenis), renal defects (hydronephrosis, chronic renal insufficiency, renal cysts, vesico-ureteral reflux), epilepsy , recurrent infections, severe constipation and hearing problems. In adolescence/adulthood behavioral problems (aggressive/emotional outbursts, attention deficit problems, self-mutilation and severe sleep disturbances) can begin. Autistic-like behavior can be noted earlier in some children. Recurrent pulmonary infections, overweight and behavioral problems seem to be reported more often in those with KS due to a point mutation , whereas microcephaly, short stature , respiratory complications and tracheomalacia are more frequently seen in those with KS due to a 9q34 microdeletion. Etiology KS is caused by either a point mutation in the euchromatic histone -lysine N-methyltransferase 1 (EHMT1 ) gene (rarely) or by a microdeletion in the chromosome region 9q34.3 (seen in >85% of cases), leading to the loss of the entire gene. This gene encodes an enzyme that modifies histone function and is essential for normal development. Larger deletions (>1mb) are associated with more severe symptoms. Diagnostic methods Diagnosis of KS is determined by the presence of the characteristic clinical features and molecular genetic testing . A microarray detects any duplications/deletions. Fluorescent in situ hybridization (FISH) or multiplex ligation-dependent probe amplification (MLPA) can then be used to detect the specific 9q34.3 deletion seen in KS. Sequencing of the entire coding region of the EHMT1 gene can detect sequence variants. Differential diagnosis Differential diagnoses include Down, Pitt-Hopkins, Smith-Magenis, Rett and 2q23.1 microdeletion syndromes (see these terms). Antenatal diagnosis Antenatal diagnosis is offered to unaffected parents of a child with KS as they have a higher risk of having another child with this disorder. Genetic counseling Most reported cases have been de novo but familial recurrence has been seen. KS has a theoretical autosomal dominant transmission, but the majority of patients do not reproduce. Management and treatment Treatment requires a multidisciplinary team, specializing in patients with intellectual deficiencies. Special education and vocational training along with speech therapy, physical and occupational therapy and sensory integration therapy are recommended from an early age. Standard treatment is necessary for those with renal, cardiac and urologic issues and for hearing loss . Psychiatric care along with behavioral intervention therapy may be needed. Cardiac screening (for the presence of arrhythmias) as well as intestinal and renal/urologic monitoring is recommended. Medical follow-up is life-long. Prognosis The prognosis of KS is variable but in most cases it is not a life-threatening disease. Visit the Orphanet disease page for more resources.

MalaCards based summary : Kleefstra Syndrome, also known as 9q34.3 microdeletion syndrome, is related to kleefstra syndrome 2 and kleefstra syndrome due to a point mutation, and has symptoms including seizures An important gene associated with Kleefstra Syndrome is EHMT1 (Euchromatic Histone Lysine Methyltransferase 1), and among its related pathways/superpathways are Lysine degradation and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. Affiliated tissues include heart, tongue and brain, and related phenotypes are coarse facial features and global developmental delay

Disease Ontology : 12 A syndrome that is characterized by developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone.

Genetics Home Reference : 25 Kleefstra syndrome is a disorder that involves many parts of the body. Characteristic features of Kleefstra syndrome include developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone (hypotonia). Affected individuals also have an unusually small head size (microcephaly) and a wide, short skull (brachycephaly). Distinctive facial features include eyebrows that grow together in the middle (synophrys), widely spaced eyes (hypertelorism), a sunken appearance of the middle of the face (midface hypoplasia), nostrils that open to the front rather than downward (anteverted nares), a protruding jaw (prognathism), rolled out (everted) lips, and a large tongue (macroglossia). Affected individuals may have a high birth weight and childhood obesity. People with Kleefstra syndrome may also have structural brain abnormalities, congenital heart defects, genitourinary abnormalities, seizures, and a tendency to develop severe respiratory infections. During childhood they may exhibit features of autism or related developmental disorders affecting communication and social interaction. In adolescence, they may develop a general loss of interest and enthusiasm (apathy) or unresponsiveness (catatonia).

KEGG : 36 Kleefstra syndrome (KLEFS), also known as the 9q subtelomeric deletion syndrome is characterized by intellectual disability, childhood hypotonia, and distinctive facial features. About 75% of Kleefstra syndrome is caused by microdeletion of 9q34.3 and 25% by intragenic EHMT1 mutation. Recently, a few patients with loss of function mutations affecting the histone methyltransferase KMT2C were reported.

GeneReviews: NBK47079

Related Diseases for Kleefstra Syndrome

Diseases in the Kleefstra Syndrome family:

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

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

(show top 50) (show all 93)
# Related Disease Score Top Affiliating Genes
1 kleefstra syndrome 2 34.5 KMT2C KMT2B
2 kleefstra syndrome due to a point mutation 34.2 KMT2C EHMT1
3 kleefstra syndrome 1 33.1 PAGR1 PAEP NSD1 NR1I3 MBD5 KDM4C
4 alacrima, achalasia, and mental retardation syndrome 31.2 UBE3A KMT2C KDM5C EHMT1
5 hypoplastic left heart syndrome 30.4 NOTCH1 KMT2D EHMT1
6 autism spectrum disorder 30.1 UBE3A PHF21A MBD5 KMT2D KMT2C KDM5C
7 autism 29.8 UBE3A PHF21A NSD1 MBD5 KDM5C KDM4C
8 hypotonia 10.6
9 nut midline carcinoma 10.3 KMT2C KDM4C H2AC18
10 cardiovascular organ benign neoplasm 10.3 NOTCH1 KDM4C H2AC18
11 heart septal defect 10.3 PAGR1 NOTCH1 H2AC18
12 syndromic x-linked intellectual disability siderius type 10.3 KDM5C KDM4C
13 oropharynx cancer 10.3 UBE3A NOTCH1 H2AC18
14 hypertelorism 10.2
15 brain stem cancer 10.2 KDM4C H3-2 H2AC18
16 bile duct adenocarcinoma 10.2 NOTCH1 KDM4C H2AC18
17 loeys-dietz syndrome 1 10.2 KDM4C H3-2 H2AC18
18 biliary tract disease 10.2 NR1I3 KDM4C H2AC18
19 isolated growth hormone deficiency type iii 10.2 KMT2D KMT2B
20 congenital nervous system abnormality 10.2 UBE3A PAGR1 H2AC18
21 syndromic intellectual disability 10.2 PHF21A KANSL1 H2AC18
22 epicanthus 10.2
23 neural tube defects 10.2
24 branchiootic syndrome 1 10.2
25 neuroblastoma 10.2
26 exophthalmos 10.2
27 hypopituitarism 10.2
28 microtia 10.2
29 meier-gorlin syndrome 1 10.2 PHF21A KDM4C H2AC18
30 angelman syndrome 10.2
31 macroglossia 10.2
32 down syndrome 10.2
33 pulmonary hypertension 10.2
34 microcephaly 10.2
35 mental retardation, x-linked, syndromic, claes-jensen type 10.1 KDM5C KDM4C
36 peripheral t-cell lymphoma 10.1 NOTCH1 KMT2D H2AC18
37 specific developmental disorder 10.1 UBE3A PAGR1 KDM4C H2AC18
38 infratentorial cancer 10.1 NOTCH1 KDM4C H3-2 H2AC18
39 mowat-wilson syndrome 10.1 UBE3A MBD5 KANSL1
40 retinal cancer 10.1 PAGR1 KDM4C H3-2 H2AC18
41 hyperoxaluria, primary, type i 10.1 KDM4C H3-2 H2AC18 EHMT2
42 chromosomal triplication 10.1
43 chromosome 9q duplication 10.1
44 carbohydrate metabolic disorder 10.1 KDM4C H3-2 H2AC18 EHMT2
45 primary hyperoxaluria 10.1 KDM4C H3-2 H2AC18 EHMT2
46 suppression of tumorigenicity 12 10.1 NOTCH1 KDM4C H3-2 H2AC18
47 papillomatosis, confluent and reticulated 10.1
48 brain stem glioma 10.1 KDM6A KDM4C H3-2
49 christianson syndrome 10.0 UBE3A MBD5 KANSL1 EHMT1
50 wolf-hirschhorn syndrome 10.0 PAGR1 NSD1 H3-2 H2AC18

Graphical network of the top 20 diseases related to Kleefstra Syndrome:

Diseases related to Kleefstra Syndrome

Symptoms & Phenotypes for Kleefstra Syndrome

Human phenotypes related to Kleefstra Syndrome:

31 (show top 50) (show all 64)
# Description HPO Frequency HPO Source Accession
1 coarse facial features 31 hallmark (90%) HP:0000280
2 global developmental delay 31 hallmark (90%) HP:0001263
3 hypertelorism 31 hallmark (90%) HP:0000316
4 muscular hypotonia 31 hallmark (90%) HP:0001252
5 delayed speech and language development 31 hallmark (90%) HP:0000750
6 short nose 31 hallmark (90%) HP:0003196
7 anteverted nares 31 hallmark (90%) HP:0000463
8 intellectual disability, severe 31 hallmark (90%) HP:0010864
9 everted lower lip vermilion 31 hallmark (90%) HP:0000232
10 malar flattening 31 hallmark (90%) HP:0000272
11 tented upper lip vermilion 31 hallmark (90%) HP:0010804
12 exaggerated cupid's bow 31 hallmark (90%) HP:0002263
13 macroglossia 31 frequent (33%) HP:0000158
14 hearing impairment 31 frequent (33%) HP:0000365
15 chronic otitis media 31 frequent (33%) HP:0000389
16 mandibular prognathia 31 frequent (33%) HP:0000303
17 sleep disturbance 31 frequent (33%) HP:0002360
18 microcephaly 31 frequent (33%) HP:0000252
19 brachycephaly 31 frequent (33%) HP:0000248
20 arrhythmia 31 frequent (33%) HP:0011675
21 obesity 31 frequent (33%) HP:0001513
22 bicuspid aortic valve 31 frequent (33%) HP:0001647
23 coarctation of aorta 31 frequent (33%) HP:0001680
24 upslanted palpebral fissure 31 frequent (33%) HP:0000582
25 highly arched eyebrow 31 frequent (33%) HP:0002553
26 constipation 31 frequent (33%) HP:0002019
27 ventricular septal defect 31 frequent (33%) HP:0001629
28 broad forehead 31 frequent (33%) HP:0000337
29 thickened helices 31 frequent (33%) HP:0000391
30 synophrys 31 frequent (33%) HP:0000664
31 autistic behavior 31 frequent (33%) HP:0000729
32 aggressive behavior 31 frequent (33%) HP:0000718
33 self-mutilation 31 frequent (33%) HP:0000742
34 scoliosis 31 occasional (7.5%) HP:0002650
35 recurrent respiratory infections 31 occasional (7.5%) HP:0002205
36 developmental regression 31 occasional (7.5%) HP:0002376
37 short stature 31 occasional (7.5%) HP:0004322
38 gastroesophageal reflux 31 occasional (7.5%) HP:0002020
39 stereotypy 31 occasional (7.5%) HP:0000733
40 renal insufficiency 31 occasional (7.5%) HP:0000083
41 dyspnea 31 occasional (7.5%) HP:0002094
42 hernia 31 occasional (7.5%) HP:0100790
43 bowel incontinence 31 occasional (7.5%) HP:0002607
44 cryptorchidism 31 occasional (7.5%) HP:0000028
45 talipes equinovarus 31 occasional (7.5%) HP:0001762
46 cerebral cortical atrophy 31 occasional (7.5%) HP:0002120
47 delayed eruption of teeth 31 occasional (7.5%) HP:0000684
48 downturned corners of mouth 31 occasional (7.5%) HP:0002714
49 micropenis 31 occasional (7.5%) HP:0000054
50 facial asymmetry 31 occasional (7.5%) HP:0000324

UMLS symptoms related to Kleefstra Syndrome:


MGI Mouse Phenotypes related to Kleefstra Syndrome:

# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.1 ASH2L EHMT1 EHMT2 KDM4C KDM6A KMT2B
2 growth/size/body region MP:0005378 9.97 EHMT1 EHMT2 KDM4C KDM5C KDM6A KMT2B
3 embryo MP:0005380 9.91 EHMT1 EHMT2 KDM5C KDM6A KMT2B KMT2D
4 mortality/aging MP:0010768 9.89 ASH2L EHMT1 EHMT2 KANSL1 KDM4C KDM5C
5 nervous system MP:0003631 9.36 EHMT1 EHMT2 KANSL1 KDM5C KDM6A KMT2B

Drugs & Therapeutics for Kleefstra Syndrome

Search Clinical Trials , NIH Clinical Center for Kleefstra Syndrome

Genetic Tests for Kleefstra Syndrome

Genetic tests related to Kleefstra Syndrome:

# Genetic test Affiliating Genes
1 Kleefstra Syndrome 29

Anatomical Context for Kleefstra Syndrome

MalaCards organs/tissues related to Kleefstra Syndrome:

Heart, Tongue, Brain, Eye, Testes, Bone

Publications for Kleefstra Syndrome

Articles related to Kleefstra Syndrome:

(show top 50) (show all 80)
# Title Authors PMID Year
First prenatal diagnosis of a 'pure' 9q34.3 deletion (Kleefstra syndrome): A case report and literature review. 24 61
29160022 2018
EHMT1 mosaicism in apparently unaffected parents is associated with autism spectrum disorder and neurocognitive dysfunction. 61 24
29416845 2018
Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder. 24 61
29069077 2017
Adaptive and maladaptive functioning in Kleefstra syndrome compared to other rare genetic disorders with intellectual disabilities. 61 24
28498556 2017
Sleep Disturbance as a Precursor of Severe Regression in Kleefstra Syndrome Suggests a Need for Firm and Rapid Pharmacological Treatment. 61 24
28622207 2017
Targeted next generation sequencing of a panel of autism-related genes identifies an EHMT1 mutation in a Kleefstra syndrome patient with autism and normal intellectual performance. 61 24
27651234 2016
A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring. 24 61
23232695 2013
Update on Kleefstra Syndrome. 24 61
22670141 2012
Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions. 24 61
21204793 2011
Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome. 24 61
19293338 2009
Prevalence and architecture of de novo mutations in developmental disorders. 24
28135719 2017
Behavioral phenotype in the 9q subtelomeric deletion syndrome: a report about two adult patients. 24
19642112 2010
Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype. 24
19264732 2009
The chromosome 9q subtelomere deletion syndrome. 24
17910072 2007
Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. 24
16826528 2006
Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome. 24
16470689 2006
The diverse functions of histone lysine methylation. 24
16261189 2005
Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome. 24
15805155 2005
Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly. 24
15805160 2005
Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome. 24
15264279 2004
Syndromes of disordered chromatin remodeling. 24
12859401 2003
Cryptic terminal deletion of chromosome 9q34: a novel cause of syndromic obesity in childhood? 24
12676904 2003
Cryptic chromosome rearrangements detected by subtelomere assay in patients with mental retardation and dysmorphic features. 24
12515261 2002
Subtle chromosomal rearrangements in children with unexplained mental retardation. 24
10568569 1999
The Object Space Task reveals increased expression of cumulative memory in a mouse model of Kleefstra syndrome. 61
32531423 2020
Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses. 61
32366967 2020
Anesthetic Management of an Infant With Kleefstra Syndrome During Direct Laryngoscopy and Rigid Bronchoscopy: A Case Report. 61
32539280 2020
Distinct Pathogenic Genes Causing Intellectual Disability and Autism Exhibit a Common Neuronal Network Hyperactivity Phenotype. 61
31914384 2020
KMT2C/D COMPASS complex-associated diseases [KCDCOM-ADs]: an emerging class of congenital regulopathies. 61
31924266 2020
Otopathology in Kleefstra Syndrome: A Case Report. 61
31750954 2019
Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling. 61
31666522 2019
[Kleefstra syndrome 1 and ring chromosome 9 in a case]. 61
31400141 2019
9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression. 61
31209758 2019
Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France. 61
30896039 2019
Histone 4 Lysine 20 Methylation: A Case for Neurodevelopmental Disease. 61
30832413 2019
Shone's complex in a patient with chromosome 9q34.3 deletion (Kleefstra syndrome). 61
30585561 2019
Fetal valproate syndrome as a phenocopy of Kleefstra syndrome. 61
30151876 2018
Pulmonary hypertension in patients with 9q34.3 microdeletion-associated Kleefstra syndrome. 61
30063093 2018
Increased H3K9 methylation and impaired expression of Protocadherins are associated with the cognitive dysfunctions of the Kleefstra syndrome. 61
29554304 2018
Biochemical validation of EHMT1 missense mutations in Kleefstra syndrome. 61
29459631 2018
New Insights into Kleefstra Syndrome: Report of Two Novel Cases with Previously Unreported Features and Literature Review. 61
30448833 2018
Hypogonadotropic Hypogonadism and Kleefstra Syndrome due to a Pathogenic Variant in the EHMT1 Gene: An Underrecognized Association. 61
30370152 2018
[Clinical and genetic analysis of a boy with 9q34.3 microdeletion syndrome]. 61
29188614 2017
Kleefstra Syndrome: The First Case Report From Iran. 61
29228531 2017
Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation. 61
28645799 2017
Altered neurite morphology and cholinergic function of induced pluripotent stem cell-derived neurons from a patient with Kleefstra syndrome and autism. 61
28742076 2017
Increased first-trimester nuchal translucency associated with a dicentric chromosome and 9q34.3 microdeletion syndrome. 61
27966372 2017
A novel de novo frameshift deletion in EHMT1 in a patient with Kleefstra Syndrome results in decreased H3K9 dimethylation. 61
28361100 2017
A de novo splice site mutation in EHMT1 resulting in Kleefstra syndrome with pharmacogenomics screening and behavior therapy for regressive behaviors. 61
28361099 2017
A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding. 61
28057753 2017

Variations for Kleefstra Syndrome

Copy number variations for Kleefstra Syndrome from CNVD:

# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 247195 9 129300000 140273252 Deletion EHMT1 Kleefstra Syndrome
2 247196 9 129300000 140273252 Deletion EHMT1 Kleefstra syndrome
3 248681 9 136600000 140273252 Deletion Kleefstra syndrome
4 249316 9 139633264 139850399 Mutation EHMT1 Kleefstra syndrome

Expression for Kleefstra Syndrome

Search GEO for disease gene expression data for Kleefstra Syndrome.

Pathways for Kleefstra Syndrome

Pathways related to Kleefstra Syndrome according to KEGG:

# Name Kegg Source Accession
1 Lysine degradation hsa00310

Pathways related to Kleefstra Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
Show member pathways
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GO Terms for Kleefstra Syndrome

Cellular components related to Kleefstra Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 10.13 PHF21A NSD1 NR1I3 NOTCH1 MBD5 KMT2D
2 nucleus GO:0005634 10.13 UBE3A PHF21A PAGR1 NSD1 NR1I3 NOTCH1
3 chromosome GO:0005694 9.87 NSD1 MBD5 KANSL1 H3-2 H2AC18 EHMT2
4 MLL3/4 complex GO:0044666 9.35 PAGR1 KMT2D KMT2C KDM6A ASH2L
5 histone methyltransferase complex GO:0035097 9.23 PAGR1 KMT2D KMT2C KMT2B KDM6A KDM5C

Biological processes related to Kleefstra Syndrome according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.05 UBE3A PAGR1 NR1I3 NOTCH1 KMT2D KMT2C
2 negative regulation of transcription by RNA polymerase II GO:0000122 10.02 PHF21A NSD1 NR1I3 NOTCH1 EHMT2 EHMT1
3 chromatin remodeling GO:0006338 9.74 KDM6A KDM5C KDM4C
4 methylation GO:0032259 9.73 NSD1 KMT2D KMT2C KMT2B EHMT2 EHMT1
5 regulation of megakaryocyte differentiation GO:0045652 9.67 KMT2D KMT2C KMT2B ASH2L
6 histone H3-K4 trimethylation GO:0080182 9.58 KMT2D KMT2B
7 histone methylation GO:0016571 9.58 NSD1 EHMT2 EHMT1
8 positive regulation of intracellular estrogen receptor signaling pathway GO:0033148 9.56 PAGR1 KMT2D
9 histone H3-K9 methylation GO:0051567 9.54 EHMT2 EHMT1
10 regulation of histone H3-K4 methylation GO:0051569 9.52 KMT2B EHMT2
11 histone H3-K4 monomethylation GO:0097692 9.5 KMT2D KMT2C KMT2B
12 peptidyl-lysine dimethylation GO:0018027 9.49 EHMT2 EHMT1
13 response to fungicide GO:0060992 9.48 EHMT2 EHMT1
14 histone H3-K27 methylation GO:0070734 9.46 EHMT2 EHMT1
15 histone lysine methylation GO:0034968 9.46 NSD1 KMT2B EHMT2 EHMT1
16 chromatin organization GO:0006325 9.44 PHF21A NSD1 KMT2D KMT2C KMT2B KDM6A
17 histone H3-K4 dimethylation GO:0044648 9.43 KMT2D KMT2B
18 histone H3-K4 methylation GO:0051568 9.43 PAGR1 KMT2D KMT2C KMT2B KDM6A ASH2L

Molecular functions related to Kleefstra Syndrome according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.1 PHF21A NR1I3 MBD5 KMT2D KMT2C KMT2B
2 metal ion binding GO:0046872 10 UBE3A PHF21A NSD1 NR1I3 NOTCH1 KMT2D
3 zinc ion binding GO:0008270 9.91 NSD1 NR1I3 KMT2B KDM5C KDM4C EHMT2
4 transcription coactivator activity GO:0003713 9.83 UBE3A NR1I3 KMT2D KMT2C
5 chromatin binding GO:0003682 9.8 PHF21A NSD1 NOTCH1 MBD5 KDM6A KDM4C
6 dioxygenase activity GO:0051213 9.65 KDM6A KDM5C KDM4C
7 histone demethylase activity GO:0032452 9.51 KDM5C KDM4C
8 C2H2 zinc finger domain binding GO:0070742 9.49 EHMT2 EHMT1
9 histone methyltransferase activity (H3-K9 specific) GO:0046974 9.46 EHMT2 EHMT1
10 histone methyltransferase activity (H3-K27 specific) GO:0046976 9.43 EHMT2 EHMT1
11 histone-lysine N-methyltransferase activity GO:0018024 9.43 NSD1 EHMT2 EHMT1
12 methyltransferase activity GO:0008168 9.43 NSD1 KMT2D KMT2C KMT2B EHMT2 EHMT1
13 histone methyltransferase activity (H3-K4 specific) GO:0042800 8.92 KMT2D KMT2C KMT2B ASH2L

Sources for Kleefstra Syndrome

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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