MCID: KLF001
MIFTS: 42

Kleefstra Syndrome

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

Aliases & Classifications for Kleefstra Syndrome

MalaCards integrated aliases for Kleefstra Syndrome:

Name: Kleefstra Syndrome 12 25 54 26 38 13 45 15 41 74
Chromosome 9q Deletion Syndrome 54 26 30 6
9q Subtelomeric Deletion Syndrome 12 25 26
9q34.3 Microdeletion Syndrome 25 54 26
9q34 Deletion Syndrome 12 77
9q- Syndrome 54 26
Chromosome 9q34.3 Deletion Syndrome 54
9q34.3 Deletion Syndrome 26
Chromosome 9, Trisomy 9q 74
9q-Syndrome 12
9qstds 25

Classifications:



Summaries for Kleefstra Syndrome

NIH Rare Diseases : 54 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 PKMTs methylate histone lysines. Affiliated tissues include tongue, heart and eye, and related phenotypes are malar flattening and hypertelorism

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 : 26 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 : 77 9q34 deletion syndrome, is a rare genetic disorder. Terminal deletions of chromosome 9q34 have been... 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:

33 (show top 50) (show all 64)
# Description HPO Frequency HPO Source Accession
1 malar flattening 33 hallmark (90%) HP:0000272
2 hypertelorism 33 hallmark (90%) HP:0000316
3 muscular hypotonia 33 hallmark (90%) HP:0001252
4 coarse facial features 33 hallmark (90%) HP:0000280
5 global developmental delay 33 hallmark (90%) HP:0001263
6 delayed speech and language development 33 hallmark (90%) HP:0000750
7 short nose 33 hallmark (90%) HP:0003196
8 anteverted nares 33 hallmark (90%) HP:0000463
9 intellectual disability, severe 33 hallmark (90%) HP:0010864
10 everted lower lip vermilion 33 hallmark (90%) HP:0000232
11 tented upper lip vermilion 33 hallmark (90%) HP:0010804
12 exaggerated cupid's bow 33 hallmark (90%) HP:0002263
13 obesity 33 frequent (33%) HP:0001513
14 constipation 33 frequent (33%) HP:0002019
15 sleep disturbance 33 frequent (33%) HP:0002360
16 macroglossia 33 frequent (33%) HP:0000158
17 mandibular prognathia 33 frequent (33%) HP:0000303
18 hearing impairment 33 frequent (33%) HP:0000365
19 chronic otitis media 33 frequent (33%) HP:0000389
20 microcephaly 33 frequent (33%) HP:0000252
21 brachycephaly 33 frequent (33%) HP:0000248
22 arrhythmia 33 frequent (33%) HP:0011675
23 bicuspid aortic valve 33 frequent (33%) HP:0001647
24 coarctation of aorta 33 frequent (33%) HP:0001680
25 broad forehead 33 frequent (33%) HP:0000337
26 aggressive behavior 33 frequent (33%) HP:0000718
27 upslanted palpebral fissure 33 frequent (33%) HP:0000582
28 ventricular septal defect 33 frequent (33%) HP:0001629
29 highly arched eyebrow 33 frequent (33%) HP:0002553
30 thickened helices 33 frequent (33%) HP:0000391
31 synophrys 33 frequent (33%) HP:0000664
32 autistic behavior 33 frequent (33%) HP:0000729
33 self-mutilation 33 frequent (33%) HP:0000742
34 agenesis of corpus callosum 33 occasional (7.5%) HP:0001274
35 seizures 33 occasional (7.5%) HP:0001250
36 developmental regression 33 occasional (7.5%) HP:0002376
37 bowel incontinence 33 occasional (7.5%) HP:0002607
38 scoliosis 33 occasional (7.5%) HP:0002650
39 recurrent respiratory infections 33 occasional (7.5%) HP:0002205
40 short stature 33 occasional (7.5%) HP:0004322
41 gastroesophageal reflux 33 occasional (7.5%) HP:0002020
42 renal insufficiency 33 occasional (7.5%) HP:0000083
43 stereotypy 33 occasional (7.5%) HP:0000733
44 dyspnea 33 occasional (7.5%) HP:0002094
45 hernia 33 occasional (7.5%) HP:0100790
46 delayed eruption of teeth 33 occasional (7.5%) HP:0000684
47 limitation of joint mobility 33 occasional (7.5%) HP:0001376
48 cryptorchidism 33 occasional (7.5%) HP:0000028
49 ventriculomegaly 33 occasional (7.5%) HP:0002119
50 cerebral cortical atrophy 33 occasional (7.5%) HP:0002120

UMLS symptoms related to Kleefstra Syndrome:


seizures

GenomeRNAi Phenotypes related to Kleefstra Syndrome according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-10 9.17 KMT2C
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.17 NOTCH1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.17 KMT2C
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-22 9.17 KMT2C
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-28 9.17 KMT2C NOTCH1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 9.17 NOTCH1

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 30 EHMT1

Anatomical Context for Kleefstra Syndrome

MalaCards organs/tissues related to Kleefstra Syndrome:

42
Tongue, Heart, Eye, Testes, Brain, Bone, Breast

Publications for Kleefstra Syndrome

Articles related to Kleefstra Syndrome:

(show all 41)
# Title Authors Year
1
Hypogonadotropic Hypogonadism and Kleefstra Syndrome due to a Pathogenic Variant in the EHMT1 Gene: An Underrecognized Association. ( 30370152 )
2018
2
First prenatal diagnosis of a 'pure' 9q34.3 deletion (Kleefstra syndrome): A case report and literature review. ( 29160022 )
2018
3
Biochemical validation of EHMT1 missense mutations in Kleefstra syndrome. ( 29459631 )
2018
4
Increased H3K9 methylation and impaired expression of Protocadherins are associated with the cognitive dysfunctions of the Kleefstra syndrome. ( 29554304 )
2018
5
Pulmonary hypertension in patients with 9q34.3 microdeletion-associated Kleefstra syndrome. ( 30063093 )
2018
6
Fetal valproate syndrome as a phenocopy of Kleefstra syndrome. ( 30151876 )
2018
7
New Insights into Kleefstra Syndrome: Report of Two Novel Cases with Previously Unreported Features and Literature Review. ( 30448833 )
2018
8
Shone's complex in a patient with chromosome 9q34.3 deletion (Kleefstra syndrome). ( 30585561 )
2018
9
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
10
A de novo splice site mutation in EHMT1 resulting in Kleefstra syndrome with pharmacogenomics screening and behavior therapy for regressive behaviors. ( 28361099 )
2017
11
A novel de novo frameshift deletion in EHMT1 in a patient with Kleefstra Syndrome results in decreased H3K9 dimethylation. ( 28361100 )
2017
12
Adaptive and maladaptive functioning in Kleefstra syndrome compared to other rare genetic disorders with intellectual disabilities. ( 28498556 )
2017
13
Sleep Disturbance as a Precursor of Severe Regression in Kleefstra Syndrome Suggests a Need for Firm and Rapid Pharmacological Treatment. ( 28622207 )
2017
14
Altered neurite morphology and cholinergic function of induced pluripotent stem cell-derived neurons from a patient with Kleefstra syndrome and autism. ( 28742076 )
2017
15
Kleefstra Syndrome: The First Case Report From Iran. ( 29228531 )
2017
16
Expanding the phenotypic profile of Kleefstra syndrome: A female with low-average intelligence and childhood apraxia of speech. ( 26833960 )
2016
17
A structured assessment of motor function and behavior in patients with Kleefstra syndrome. ( 26808425 )
2016
18
Kleefstra syndrome in Hungarian patients: additional symptoms besides the classic phenotype. ( 26918030 )
2016
19
Reversible white matter lesions associated with mutant EHMT1 and Kleefstra syndrome. ( 27123477 )
2016
20
Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome. ( 27239352 )
2016
21
Histone Methylation by the Kleefstra Syndrome Protein EHMT1 Mediates Homeostatic Synaptic Scaling. ( 27373831 )
2016
22
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
23
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
24
Deep brain stimulation for the obsessive-compulsive and Tourette-like symptoms of Kleefstra syndrome. ( 26030700 )
2015
25
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
26
TWINS WITH KLEEFSTRA SYNDROME DUE TO CHROMOSOME 9q34.3 MICRODELETION. ( 26852514 )
2015
27
Severe neonatal presentation of Kleefstra syndrome in a patient with hypoplastic left heart syndrome and 9q34.3 microdeletion. ( 25380126 )
2014
28
Reduced Euchromatin histone methyltransferase 1 causes developmental delay, hypotonia, and cranial abnormalities associated with increased bone gene expression in Kleefstra syndrome mice. ( 24362066 )
2014
29
Intragenic duplication of EHMT1 gene results in Kleefstra syndrome. ( 25349628 )
2014
30
Genetic/familial high-risk assessment: breast and ovarian, version 1.2014. ( 25190698 )
2014
31
Hippocampal dysfunction in the Euchromatin histone methyltransferase 1 heterozygous knockout mouse model for Kleefstra syndrome. ( 23175442 )
2013
32
A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring. ( 23232695 )
2013
33
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. ( 23519317 )
2013
34
Update on Kleefstra Syndrome. ( 22670141 )
2012
35
Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability. ( 22726846 )
2012
36
Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions. ( 21204793 )
2011
37
Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome. ( 21538692 )
2011
38
Kleefstra syndrome in three adult patients: further delineation of the behavioral and neurological phenotype shows aspects of a neurodegenerative course. ( 21910222 )
2011
39
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. ( 20466091 )
2010
40
Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype. ( 19264732 )
2009
41
Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. ( 16826528 )
2006

Variations for Kleefstra Syndrome

ClinVar genetic disease variations for Kleefstra Syndrome:

6 (show top 50) (show all 496)
# 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 rs1554896943 GRCh37 Chromosome 9, 140708803: 140708935
10 EHMT1 NM_024757.4(EHMT1): c.3181-80_3233del deletion Pathogenic rs1554896943 GRCh38 Chromosome 9, 137814351: 137814483
11 EHMT1 NM_024757.4(EHMT1): c.1044G> A (p.Ser348=) single nucleotide variant Benign rs1129767 GRCh37 Chromosome 9, 140638416: 140638416
12 EHMT1 NM_024757.4(EHMT1): c.1044G> A (p.Ser348=) single nucleotide variant Benign rs1129767 GRCh38 Chromosome 9, 137743964: 137743964
13 EHMT1 NM_024757.4(EHMT1): c.1089T> C (p.Gly363=) single nucleotide variant Benign rs1129768 GRCh37 Chromosome 9, 140638461: 140638461
14 EHMT1 NM_024757.4(EHMT1): c.1089T> C (p.Gly363=) single nucleotide variant Benign rs1129768 GRCh38 Chromosome 9, 137744009: 137744009
15 EHMT1 NM_024757.4(EHMT1): c.1368C> T (p.Leu456=) single nucleotide variant Benign rs45450992 GRCh37 Chromosome 9, 140648742: 140648742
16 EHMT1 NM_024757.4(EHMT1): c.1368C> T (p.Leu456=) single nucleotide variant Benign rs45450992 GRCh38 Chromosome 9, 137754290: 137754290
17 EHMT1 NM_024757.4(EHMT1): c.1533_1536del (p.Asp512Alafs) deletion Pathogenic rs137852716 GRCh37 Chromosome 9, 140657158: 140657161
18 EHMT1 NM_024757.4(EHMT1): c.1533_1536del (p.Asp512Alafs) deletion Pathogenic rs137852716 GRCh38 Chromosome 9, 137762706: 137762709
19 EHMT1 NM_024757.4(EHMT1): c.1810C> T (p.Gln604Ter) single nucleotide variant Pathogenic rs137852717 GRCh37 Chromosome 9, 140671088: 140671088
20 EHMT1 NM_024757.4(EHMT1): c.1810C> T (p.Gln604Ter) single nucleotide variant Pathogenic rs137852717 GRCh38 Chromosome 9, 137776636: 137776636
21 EHMT1 NM_024757.4(EHMT1): c.1858C> T (p.Arg620Ter) single nucleotide variant Pathogenic rs137852718 GRCh37 Chromosome 9, 140671136: 140671136
22 EHMT1 NM_024757.4(EHMT1): c.1858C> T (p.Arg620Ter) single nucleotide variant Pathogenic rs137852718 GRCh38 Chromosome 9, 137776684: 137776684
23 EHMT1 NM_024757.4(EHMT1): c.2028dup (p.Pro677Alafs) duplication Pathogenic rs1554879411 GRCh37 Chromosome 9, 140672343: 140672343
24 EHMT1 NM_024757.4(EHMT1): c.2028dup (p.Pro677Alafs) duplication Pathogenic rs1554879411 GRCh38 Chromosome 9, 137777891: 137777891
25 EHMT1 NM_024757.4(EHMT1): c.2193-1G> C single nucleotide variant Pathogenic rs137852720 GRCh37 Chromosome 9, 140674086: 140674086
26 EHMT1 NM_024757.4(EHMT1): c.2193-1G> C single nucleotide variant Pathogenic rs137852720 GRCh38 Chromosome 9, 137779634: 137779634
27 EHMT1 NM_024757.4(EHMT1): c.2863_2864delGT (p.Val955Argfs) deletion Pathogenic rs137852721 GRCh37 Chromosome 9, 140706063: 140706064
28 EHMT1 NM_024757.4(EHMT1): c.2863_2864delGT (p.Val955Argfs) deletion Pathogenic rs137852721 GRCh38 Chromosome 9, 137811611: 137811612
29 EHMT1 NM_024757.4(EHMT1): c.2868-1G> A single nucleotide variant Pathogenic rs137852722 GRCh37 Chromosome 9, 140707457: 140707457
30 EHMT1 NM_024757.4(EHMT1): c.2868-1G> A single nucleotide variant Pathogenic rs137852722 GRCh38 Chromosome 9, 137813005: 137813005
31 EHMT1 NM_024757.4(EHMT1): c.2877_2880delTTCT (p.Ser960Glyfs) deletion Pathogenic rs786205129 GRCh37 Chromosome 9, 140707467: 140707470
32 EHMT1 NM_024757.4(EHMT1): c.2877_2880delTTCT (p.Ser960Glyfs) deletion Pathogenic rs786205129 GRCh38 Chromosome 9, 137813015: 137813018
33 EHMT1 NM_024757.4(EHMT1): c.3180+1G> T single nucleotide variant Pathogenic rs137852724 GRCh37 Chromosome 9, 140707983: 140707983
34 EHMT1 NM_024757.4(EHMT1): c.3180+1G> T single nucleotide variant Pathogenic rs137852724 GRCh38 Chromosome 9, 137813531: 137813531
35 EHMT1 NM_024757.4(EHMT1): c.3229C> T (p.Gln1077Ter) single nucleotide variant Pathogenic rs137852725 GRCh37 Chromosome 9, 140708931: 140708931
36 EHMT1 NM_024757.4(EHMT1): c.3229C> T (p.Gln1077Ter) single nucleotide variant Pathogenic rs137852725 GRCh38 Chromosome 9, 137814479: 137814479
37 EHMT1 NM_024757.4(EHMT1): c.3589C> T (p.Arg1197Trp) single nucleotide variant Likely pathogenic rs137852727 GRCh37 Chromosome 9, 140728849: 140728849
38 EHMT1 NM_024757.4(EHMT1): c.3589C> T (p.Arg1197Trp) single nucleotide variant Likely pathogenic rs137852727 GRCh38 Chromosome 9, 137834397: 137834397
39 EHMT1 NM_024757.4(EHMT1): c.444T> C (p.Pro148=) single nucleotide variant Benign rs3812497 GRCh37 Chromosome 9, 140611436: 140611436
40 EHMT1 NM_024757.4(EHMT1): c.444T> C (p.Pro148=) single nucleotide variant Benign rs3812497 GRCh38 Chromosome 9, 137716984: 137716984
41 NR1I3 NM_001077482.2(NR1I3): c.740T> C (p.Phe247Ser) single nucleotide variant Uncertain significance rs398122411 GRCh37 Chromosome 1, 161200990: 161200990
42 NR1I3 NM_001077482.2(NR1I3): c.740T> C (p.Phe247Ser) single nucleotide variant Uncertain significance rs398122411 GRCh38 Chromosome 1, 161231200: 161231200
43 EHMT1 NM_024757.4(EHMT1): c.128C> G (p.Ala43Gly) single nucleotide variant Benign rs79514677 GRCh37 Chromosome 9, 140611120: 140611120
44 EHMT1 NM_024757.4(EHMT1): c.128C> G (p.Ala43Gly) single nucleotide variant Benign rs79514677 GRCh38 Chromosome 9, 137716668: 137716668
45 EHMT1 NM_024757.4(EHMT1): c.129A> T (p.Ala43=) single nucleotide variant Benign rs76684726 GRCh37 Chromosome 9, 140611121: 140611121
46 EHMT1 NM_024757.4(EHMT1): c.129A> T (p.Ala43=) single nucleotide variant Benign rs76684726 GRCh38 Chromosome 9, 137716669: 137716669
47 EHMT1 NM_024757.4(EHMT1): c.1369+9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs146125583 GRCh37 Chromosome 9, 140648752: 140648752
48 EHMT1 NM_024757.4(EHMT1): c.1369+9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs146125583 GRCh38 Chromosome 9, 137754300: 137754300
49 EHMT1 NM_024757.4(EHMT1): c.1501+13G> T single nucleotide variant Benign rs3125794 GRCh37 Chromosome 9, 140652476: 140652476
50 EHMT1 NM_024757.4(EHMT1): c.1501+13G> T single nucleotide variant Benign rs3125794 GRCh38 Chromosome 9, 137758024: 137758024

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:

38
# 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
1
Show member pathways
11.31 EHMT1 KMT2C
2 10.78 KMT2C NOTCH1
3 10.39 EHMT1 KMT2C

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 9.43 EHMT1 KMT2C MBD5 NOTCH1 WIZ ZNF589
2 midbody GO:0030496 9.16 MBD5 WIZ
3 nucleoplasm GO:0005654 9.1 EHMT1 KMT2C MBD5 NOTCH1 WIZ ZNF589

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.13 EHMT1 NOTCH1 ZNF589
2 histone lysine methylation GO:0034968 8.62 EHMT1 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 9.35 EHMT1 KMT2C NOTCH1 WIZ ZNF589
2 histone-lysine N-methyltransferase activity GO:0018024 8.62 EHMT1 KMT2C

Sources for Kleefstra Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
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75 UMLS via Orphanet
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