MCID: KLF001
MIFTS: 46

Kleefstra Syndrome

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

Aliases & Classifications for Kleefstra Syndrome

MalaCards integrated aliases for Kleefstra Syndrome:

Name: Kleefstra Syndrome 12 12 24 53 25 37 13 44 15 40 73
Chromosome 9q Deletion Syndrome 53 25 29 6
9q Subtelomeric Deletion Syndrome 12 24 25
9q34.3 Microdeletion Syndrome 24 53 25
Chromosome 9q34.3 Deletion Syndrome 12 53
9q34 Deletion Syndrome 12 76
9q- Syndrome 53 25
9q34.3 Deletion Syndrome 25
Chromosome 9, Trisomy 9q 73
9q-Syndrome 12
9qstds 24

Characteristics:

GeneReviews:

24
Penetrance Penetrance is likely to be 100%: clinical features of kleefstra syndrome are apparent in all individuals with inactivation of one ehmt1 allele, although the extent and severity of clinical findings vary among individuals...

Classifications:



Summaries for Kleefstra Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 261494Disease definitionKleefstra 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.EpidemiologyThe prevalence is unknown. To date, 114 cases have been described.Clinical descriptionPatients 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.EtiologyKS 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 methodsDiagnosis 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 diagnosisDifferential diagnoses include Down, Pitt-Hopkins, Smith-Magenis, Rett and 2q23.1 microdeletion syndromes (see these terms).Antenatal diagnosisAntenatal 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 counselingMost 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 treatmentTreatment 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.PrognosisThe 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 chromosome 9q deletion syndrome, is related to kleefstra syndrome due to a point mutation and hypoplastic left heart syndrome, 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 Gene Expression. Affiliated tissues include tongue, heart and eye, and related phenotypes are cryptorchidism and hypospadias

Disease Ontology : 12 A syndrome characterized by childhood hypotonia, a distinctive facial appearance, speech impediments and developmental disability, as well as epilepsy, congenital and urogenetic defects, microcephaly, corpulence, and psychiatric disorders. It is caused either by a microdeletion in the chromosome region 9q34.3 or by a point mutation in the EHMT1 gene located in that region.

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.

Wikipedia : 76 9q34 deletion syndrome, also known as Kleefstra syndrome, is a rare genetic disorder. Terminal deletions... more...

GeneReviews: NBK47079

Related Diseases for Kleefstra Syndrome

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:

32 (show top 50) (show all 64)
# Description HPO Frequency HPO Source Accession
1 cryptorchidism 32 occasional (7.5%) HP:0000028
2 hypospadias 32 occasional (7.5%) HP:0000047
3 micropenis 32 occasional (7.5%) HP:0000054
4 vesicoureteral reflux 32 occasional (7.5%) HP:0000076
5 renal insufficiency 32 occasional (7.5%) HP:0000083
6 renal cyst 32 occasional (7.5%) HP:0000107
7 hydronephrosis 32 occasional (7.5%) HP:0000126
8 macroglossia 32 frequent (33%) HP:0000158
9 everted lower lip vermilion 32 hallmark (90%) HP:0000232
10 brachycephaly 32 frequent (33%) HP:0000248
11 microcephaly 32 frequent (33%) HP:0000252
12 malar flattening 32 hallmark (90%) HP:0000272
13 coarse facial features 32 hallmark (90%) HP:0000280
14 mandibular prognathia 32 frequent (33%) HP:0000303
15 hypertelorism 32 hallmark (90%) HP:0000316
16 facial asymmetry 32 occasional (7.5%) HP:0000324
17 broad forehead 32 frequent (33%) HP:0000337
18 hearing impairment 32 frequent (33%) HP:0000365
19 chronic otitis media 32 frequent (33%) HP:0000389
20 thickened helices 32 frequent (33%) HP:0000391
21 anteverted nares 32 hallmark (90%) HP:0000463
22 upslanted palpebral fissure 32 frequent (33%) HP:0000582
23 synophrys 32 frequent (33%) HP:0000664
24 delayed eruption of teeth 32 occasional (7.5%) HP:0000684
25 aggressive behavior 32 frequent (33%) HP:0000718
26 autistic behavior 32 frequent (33%) HP:0000729
27 stereotypy 32 occasional (7.5%) HP:0000733
28 self-mutilation 32 frequent (33%) HP:0000742
29 delayed speech and language development 32 hallmark (90%) HP:0000750
30 seizures 32 occasional (7.5%) HP:0001250
31 muscular hypotonia 32 hallmark (90%) HP:0001252
32 global developmental delay 32 hallmark (90%) HP:0001263
33 agenesis of corpus callosum 32 occasional (7.5%) HP:0001274
34 limitation of joint mobility 32 occasional (7.5%) HP:0001376
35 obesity 32 frequent (33%) HP:0001513
36 ventricular septal defect 32 frequent (33%) HP:0001629
37 tetralogy of fallot 32 occasional (7.5%) HP:0001636
38 bicuspid aortic valve 32 frequent (33%) HP:0001647
39 coarctation of aorta 32 frequent (33%) HP:0001680
40 talipes equinovarus 32 occasional (7.5%) HP:0001762
41 constipation 32 frequent (33%) HP:0002019
42 gastroesophageal reflux 32 occasional (7.5%) HP:0002020
43 pyloric stenosis 32 occasional (7.5%) HP:0002021
44 dyspnea 32 occasional (7.5%) HP:0002094
45 ventriculomegaly 32 occasional (7.5%) HP:0002119
46 cerebral cortical atrophy 32 occasional (7.5%) HP:0002120
47 recurrent respiratory infections 32 occasional (7.5%) HP:0002205
48 exaggerated cupid's bow 32 hallmark (90%) HP:0002263
49 sleep disturbance 32 frequent (33%) HP:0002360
50 developmental regression 32 occasional (7.5%) HP:0002376

UMLS symptoms related to Kleefstra Syndrome:


seizures

Drugs & Therapeutics for Kleefstra Syndrome

Search Clinical Trials , NIH Clinical Center for Kleefstra Syndrome

Cochrane evidence based reviews: kleefstra syndrome

Genetic Tests for Kleefstra Syndrome

Genetic tests related to Kleefstra Syndrome:

# Genetic test Affiliating Genes
1 Chromosome 9q Deletion Syndrome 29 EHMT1

Anatomical Context for Kleefstra Syndrome

MalaCards organs/tissues related to Kleefstra Syndrome:

41
Tongue, Heart, Eye, Testes, Brain, Bone

Publications for Kleefstra Syndrome

Articles related to Kleefstra Syndrome:

(show all 31)
# Title Authors Year
1
Biochemical validation of EHMT1 missense mutations in Kleefstra syndrome. ( 29459631 )
2018
2
Increased H3K9 methylation and impaired expression of Protocadherins are associated with the cognitive dysfunctions of the Kleefstra syndrome. ( 29554304 )
2018
3
Altered neurite morphology and cholinergic function of induced pluripotent stem cell-derived neurons from a patient with Kleefstra syndrome and autism. ( 28742076 )
2017
4
A Novel Kleefstra Syndrome Associated Variant that Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding. ( 28057753 )
2017
5
A de novo splice site mutation in EHMT1 resulting in Kleefstra syndrome with pharmacogenomics screening and behavior therapy for regressive behaviors. ( 28361099 )
2017
6
Adaptive and maladaptive functioning in Kleefstra syndrome compared to other rare genetic disorders with intellectual disabilities. ( 28498556 )
2017
7
Sleep Disturbance as a Precursor of Severe Regression in Kleefstra Syndrome Suggests a Need for Firm and Rapid Pharmacological Treatment. ( 28622207 )
2017
8
A novel de novo frameshift deletion in EHMT1 in a patient with Kleefstra Syndrome results in decreased H3K9 dimethylation. ( 28361100 )
2017
9
Kleefstra Syndrome: The First Case Report From Iran. ( 29228531 )
2017
10
First prenatal diagnosis of a 'pure' 9q34.3 deletion (Kleefstra syndrome): A case report and literature review. ( 29160022 )
2017
11
Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome. ( 27239352 )
2016
12
Reversible white matter lesions associated with mutant EHMT1 and Kleefstra syndrome. ( 27123477 )
2016
13
Expanding the phenotypic profile of Kleefstra syndrome: A female with low-average intelligence and childhood apraxia of speech. ( 26833960 )
2016
14
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. ( 27651234 )
2016
15
A structured assessment of motor function and behavior in patients with Kleefstra syndrome. ( 26808425 )
2016
16
Kleefstra syndrome in Hungarian patients: additional symptoms besides the classic phenotype. ( 26918030 )
2016
17
Histone Methylation by the Kleefstra Syndrome Protein EHMT1 Mediates Homeostatic Synaptic Scaling. ( 27373831 )
2016
18
Establishment of EHMT1 mutant induced pluripotent stem cell (iPSC) line from a 11-year-old Kleefstra syndrome (KS) patient with autism and normal intellectual performance. ( 27789404 )
2016
19
Deep brain stimulation for the obsessive-compulsive and Tourette-like symptoms of Kleefstra syndrome. ( 26030700 )
2015
20
TWINS WITH KLEEFSTRA SYNDROME DUE TO CHROMOSOME 9q34.3 MICRODELETION. ( 26852514 )
2015
21
Pregnancy with de novo 9q34.3 microdeletion and Kleefstra syndrome in the fetus may be associated with an abnormal maternal serum screening result. ( 26384070 )
2015
22
Intragenic duplication of EHMT1 gene results in Kleefstra syndrome. ( 25349628 )
2014
23
Severe neonatal presentation of Kleefstra syndrome in a patient with hypoplastic left heart syndrome and 9q34.3 microdeletion. ( 25380126 )
2014
24
A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring. ( 23232695 )
2013
25
Reduced Euchromatin histone methyltransferase 1 causes developmental delay, hypotonia, and cranial abnormalities associated with increased bone gene expression in Kleefstra syndrome mice. ( 24362066 )
2013
26
Hippocampal dysfunction in the Euchromatin histone methyltransferase 1 heterozygous knockout mouse model for Kleefstra syndrome. ( 23175442 )
2013
27
Update on Kleefstra Syndrome. ( 22670141 )
2012
28
Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome. ( 21538692 )
2011
29
Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions. ( 21204793 )
2011
30
Kleefstra syndrome in three adult patients: further delineation of the behavioral and neurological phenotype shows aspects of a neurodegenerative course. ( 21910222 )
2011
31
Kleefstra Syndrome ( 20945554 )
1993

Variations for Kleefstra Syndrome

ClinVar genetic disease variations for Kleefstra Syndrome:

6
(show top 50) (show all 334)
# Gene Variation Type Significance SNP ID Assembly Location
1 EHMT1 NM_024757.4(EHMT1): c.3502C> T (p.Arg1168Ter) single nucleotide variant Pathogenic rs121918301 GRCh37 Chromosome 9, 140712552: 140712552
2 EHMT1 NM_024757.4(EHMT1): c.3502C> T (p.Arg1168Ter) single nucleotide variant Pathogenic rs121918301 GRCh38 Chromosome 9, 137818100: 137818100
3 EHMT1 NM_024757.4(EHMT1): c.1413_1425delGGCACCAGGAGAC (p.Pro473Glnfs) deletion Pathogenic rs137852715 GRCh37 Chromosome 9, 140652375: 140652387
4 EHMT1 NM_024757.4(EHMT1): c.1413_1425delGGCACCAGGAGAC (p.Pro473Glnfs) deletion Pathogenic rs137852715 GRCh38 Chromosome 9, 137757923: 137757935
5 EHMT1 NM_024757.4(EHMT1): c.3218G> A (p.Cys1073Tyr) single nucleotide variant Pathogenic rs137852726 GRCh37 Chromosome 9, 140708920: 140708920
6 EHMT1 NM_024757.4(EHMT1): c.3218G> A (p.Cys1073Tyr) single nucleotide variant Pathogenic rs137852726 GRCh38 Chromosome 9, 137814468: 137814468
7 EHMT1 NM_024757.4(EHMT1): c.871C> T (p.Arg291Ter) single nucleotide variant Pathogenic rs137852714 GRCh37 Chromosome 9, 140637870: 140637870
8 EHMT1 NM_024757.4(EHMT1): c.871C> T (p.Arg291Ter) single nucleotide variant Pathogenic rs137852714 GRCh38 Chromosome 9, 137743418: 137743418
9 EHMT1 NM_024757.4(EHMT1): c.3181-80_3233del deletion Pathogenic GRCh37 Chromosome 9, 140708803: 140708935
10 EHMT1 NM_024757.4(EHMT1): c.3181-80_3233del deletion Pathogenic GRCh38 Chromosome 9, 137814351: 137814483
11 EHMT1 NM_024757.4(EHMT1): c.1533_1536delAGAC (p.Asp512Alafs) deletion Pathogenic rs137852716 GRCh37 Chromosome 9, 140657158: 140657161
12 EHMT1 NM_024757.4(EHMT1): c.1533_1536delAGAC (p.Asp512Alafs) deletion Pathogenic rs137852716 GRCh38 Chromosome 9, 137762706: 137762709
13 EHMT1 NM_024757.4(EHMT1): c.1810C> T (p.Gln604Ter) single nucleotide variant Pathogenic rs137852717 GRCh37 Chromosome 9, 140671088: 140671088
14 EHMT1 NM_024757.4(EHMT1): c.1810C> T (p.Gln604Ter) single nucleotide variant Pathogenic rs137852717 GRCh38 Chromosome 9, 137776636: 137776636
15 EHMT1 NM_024757.4(EHMT1): c.1858C> T (p.Arg620Ter) single nucleotide variant Pathogenic rs137852718 GRCh37 Chromosome 9, 140671136: 140671136
16 EHMT1 NM_024757.4(EHMT1): c.1858C> T (p.Arg620Ter) single nucleotide variant Pathogenic rs137852718 GRCh38 Chromosome 9, 137776684: 137776684
17 EHMT1 NM_024757.4(EHMT1): c.2028dupG (p.Pro677Alafs) duplication Pathogenic rs786205128 GRCh37 Chromosome 9, 140672343: 140672343
18 EHMT1 NM_024757.4(EHMT1): c.2028dupG (p.Pro677Alafs) duplication Pathogenic rs786205128 GRCh38 Chromosome 9, 137777891: 137777891
19 EHMT1 NM_024757.4(EHMT1): c.2193-1G> C single nucleotide variant Pathogenic rs137852720 GRCh37 Chromosome 9, 140674086: 140674086
20 EHMT1 NM_024757.4(EHMT1): c.2193-1G> C single nucleotide variant Pathogenic rs137852720 GRCh38 Chromosome 9, 137779634: 137779634
21 EHMT1 NM_024757.4(EHMT1): c.2863_2864delGT (p.Val955Argfs) deletion Pathogenic rs137852721 GRCh37 Chromosome 9, 140706063: 140706064
22 EHMT1 NM_024757.4(EHMT1): c.2863_2864delGT (p.Val955Argfs) deletion Pathogenic rs137852721 GRCh38 Chromosome 9, 137811611: 137811612
23 EHMT1 NM_024757.4(EHMT1): c.2868-1G> A single nucleotide variant Pathogenic rs137852722 GRCh37 Chromosome 9, 140707457: 140707457
24 EHMT1 NM_024757.4(EHMT1): c.2868-1G> A single nucleotide variant Pathogenic rs137852722 GRCh38 Chromosome 9, 137813005: 137813005
25 EHMT1 NM_024757.4(EHMT1): c.2877_2880delTTCT (p.Ser960Glyfs) deletion Pathogenic rs786205129 GRCh37 Chromosome 9, 140707467: 140707470
26 EHMT1 NM_024757.4(EHMT1): c.2877_2880delTTCT (p.Ser960Glyfs) deletion Pathogenic rs786205129 GRCh38 Chromosome 9, 137813015: 137813018
27 EHMT1 NM_024757.4(EHMT1): c.3180+1G> T single nucleotide variant Pathogenic rs137852724 GRCh37 Chromosome 9, 140707983: 140707983
28 EHMT1 NM_024757.4(EHMT1): c.3180+1G> T single nucleotide variant Pathogenic rs137852724 GRCh38 Chromosome 9, 137813531: 137813531
29 EHMT1 NM_024757.4(EHMT1): c.3229C> T (p.Gln1077Ter) single nucleotide variant Pathogenic rs137852725 GRCh37 Chromosome 9, 140708931: 140708931
30 EHMT1 NM_024757.4(EHMT1): c.3229C> T (p.Gln1077Ter) single nucleotide variant Pathogenic rs137852725 GRCh38 Chromosome 9, 137814479: 137814479
31 EHMT1 NM_024757.4(EHMT1): c.3589C> T (p.Arg1197Trp) single nucleotide variant Pathogenic rs137852727 GRCh37 Chromosome 9, 140728849: 140728849
32 EHMT1 NM_024757.4(EHMT1): c.3589C> T (p.Arg1197Trp) single nucleotide variant Pathogenic rs137852727 GRCh38 Chromosome 9, 137834397: 137834397
33 EHMT1 NM_024757.4(EHMT1): c.480C> T (p.Gly160=) single nucleotide variant Benign/Likely benign rs150135875 GRCh37 Chromosome 9, 140611472: 140611472
34 EHMT1 NM_024757.4(EHMT1): c.480C> T (p.Gly160=) single nucleotide variant Benign/Likely benign rs150135875 GRCh38 Chromosome 9, 137717020: 137717020
35 EHMT1 NM_024757.4(EHMT1): c.2040G> A (p.Ser680=) single nucleotide variant Benign rs150451099 GRCh37 Chromosome 9, 140672355: 140672355
36 EHMT1 NM_024757.4(EHMT1): c.2040G> A (p.Ser680=) single nucleotide variant Benign rs150451099 GRCh38 Chromosome 9, 137777903: 137777903
37 EHMT1 NM_024757.4(EHMT1): c.2595C> T (p.Asp865=) single nucleotide variant Conflicting interpretations of pathogenicity rs780742937 GRCh37 Chromosome 9, 140693354: 140693354
38 EHMT1 NM_024757.4(EHMT1): c.2595C> T (p.Asp865=) single nucleotide variant Conflicting interpretations of pathogenicity rs780742937 GRCh38 Chromosome 9, 137798902: 137798902
39 EHMT1 NM_024757.4(EHMT1): c.2695A> G (p.Ile899Val) single nucleotide variant Conflicting interpretations of pathogenicity rs144085805 GRCh37 Chromosome 9, 140695419: 140695419
40 EHMT1 NM_024757.4(EHMT1): c.2695A> G (p.Ile899Val) single nucleotide variant Conflicting interpretations of pathogenicity rs144085805 GRCh38 Chromosome 9, 137800967: 137800967
41 EHMT1 NM_024757.4(EHMT1): c.3011G> A (p.Ser1004Asn) single nucleotide variant Benign/Likely benign rs138283222 GRCh37 Chromosome 9, 140707601: 140707601
42 EHMT1 NM_024757.4(EHMT1): c.3011G> A (p.Ser1004Asn) single nucleotide variant Benign/Likely benign rs138283222 GRCh38 Chromosome 9, 137813149: 137813149
43 EHMT1 NM_024757.4(EHMT1): c.581C> T (p.Pro194Leu) single nucleotide variant Benign rs35570782 GRCh37 Chromosome 9, 140611573: 140611573
44 EHMT1 NM_024757.4(EHMT1): c.581C> T (p.Pro194Leu) single nucleotide variant Benign rs35570782 GRCh38 Chromosome 9, 137717121: 137717121
45 EHMT1 NM_024757.4(EHMT1): c.183C> T (p.Ser61=) single nucleotide variant Conflicting interpretations of pathogenicity rs774448433 GRCh37 Chromosome 9, 140611175: 140611175
46 EHMT1 NM_024757.4(EHMT1): c.183C> T (p.Ser61=) single nucleotide variant Conflicting interpretations of pathogenicity rs774448433 GRCh38 Chromosome 9, 137716723: 137716723
47 EHMT1 NM_024757.4(EHMT1): c.737G> A (p.Arg246Gln) single nucleotide variant Likely benign rs144871446 GRCh37 Chromosome 9, 140622895: 140622895
48 EHMT1 NM_024757.4(EHMT1): c.737G> A (p.Arg246Gln) single nucleotide variant Likely benign rs144871446 GRCh38 Chromosome 9, 137728443: 137728443
49 EHMT1 NM_024757.4(EHMT1): c.391delG (p.Ala131Profs) deletion Pathogenic rs797045043 GRCh37 Chromosome 9, 140611383: 140611383
50 EHMT1 NM_024757.4(EHMT1): c.391delG (p.Ala131Profs) deletion Pathogenic rs797045043 GRCh38 Chromosome 9, 137716931: 137716931

Copy number variations for Kleefstra Syndrome from CNVD:

7
# CNVD ID Chromosom 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:

37
# Name Kegg Source Accession
1 Lysine degradation hsa00310

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 nucleus GO:0005634 9.5 EHMT1 EHMT2 GATAD2B KMT2C NOTCH1 WIZ
2 nucleoplasm GO:0005654 9.17 EHMT1 EHMT2 GATAD2B KMT2C NOTCH1 WIZ

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 9.81 EHMT2 GATAD2B NOTCH1 WIZ
2 chromatin organization GO:0006325 9.67 EHMT1 EHMT2 KMT2C
3 methylation GO:0032259 9.61 EHMT1 EHMT2 KMT2C
4 negative regulation of transcription by RNA polymerase II GO:0000122 9.55 EHMT1 EHMT2 GATAD2B NOTCH1 ZNF589
5 negative regulation of G0 to G1 transition GO:0070317 9.48 EHMT1 EHMT2
6 DNA methylation GO:0006306 9.46 EHMT1 EHMT2
7 histone methylation GO:0016571 9.4 EHMT1 EHMT2
8 response to fungicide GO:0060992 9.37 EHMT1 EHMT2
9 histone H3-K27 methylation GO:0070734 9.32 EHMT1 EHMT2
10 peptidyl-lysine dimethylation GO:0018027 9.26 EHMT1 EHMT2
11 histone H3-K9 methylation GO:0051567 8.96 EHMT1 EHMT2
12 histone lysine methylation GO:0034968 8.8 EHMT1 EHMT2 KMT2C

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

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.8 EHMT1 EHMT2 GATAD2B KMT2C NOTCH1 WIZ
2 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.61 EHMT2 GATAD2B ZNF589
3 methyltransferase activity GO:0008168 9.54 EHMT1 EHMT2 KMT2C
4 p53 binding GO:0002039 9.46 EHMT1 EHMT2
5 protein-lysine N-methyltransferase activity GO:0016279 9.4 EHMT1 EHMT2
6 C2H2 zinc finger domain binding GO:0070742 9.32 EHMT1 EHMT2
7 histone methyltransferase activity (H3-K27 specific) GO:0046976 9.16 EHMT1 EHMT2
8 histone methyltransferase activity (H3-K9 specific) GO:0046974 8.96 EHMT1 EHMT2
9 histone-lysine N-methyltransferase activity GO:0018024 8.8 EHMT1 EHMT2 KMT2C

Sources for Kleefstra 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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