MCID: KLF001
MIFTS: 46

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 24 53 25 37 44 15 40 72
Chromosome 9q Deletion Syndrome 53 25 29 6
9q Subtelomeric Deletion Syndrome 12 24 25
9q34.3 Microdeletion Syndrome 24 53 25
9q34 Deletion Syndrome 12 75
9q- Syndrome 53 25
Chromosome 9q34.3 Deletion Syndrome 53
9q34.3 Deletion Syndrome 25
Chromosome 9, Trisomy 9q 72
9q-Syndrome 12
9qstds 24

Classifications:



External Ids:

Disease Ontology 12 DOID:0060352
KEGG 37 H00907
MeSH 44 C563043
NCIt 50 C129976
UMLS 72 C0795833 C0795834

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: 261494DefinitionKleefstra 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 autism spectrum disorder, 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 heart, tongue and brain, and related phenotypes are malar flattening and hypertelorism

Disease Ontology : 12 A syndrome that is characterized by childhood hypotonia, a distinctive facial appearance, speech impediments, developmental disability, epilepsy, congenital and urogenetic defects, microcephaly, corpulence, and psychiatric disorders and that has material basis in 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. 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 : 37
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.

Wikipedia : 75 9q34 deletion syndrome, is a rare genetic disorder. Terminal deletions of chromosome 9q34 have been... more...

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 all 50)
# Related Disease Score Top Affiliating Genes
1 kleefstra syndrome due to a point mutation 33.4 KMT2C EHMT1
2 autism spectrum disorder 29.8 MBD5 EHMT1
3 hypoplastic left heart syndrome 29.7 NOTCH1 EHMT1
4 kleefstra syndrome 1 12.8
5 kleefstra syndrome 2 12.6
6 alacrima, achalasia, and mental retardation syndrome 10.7
7 hypotonia 10.6
8 autism 10.3
9 hypertelorism 10.2
10 epicanthus 10.2
11 neural tube defects 10.2
12 neuroblastoma 1 10.2
13 branchiootic syndrome 1 10.2
14 exophthalmos 10.2
15 hypopituitarism 10.2
16 microtia 10.2
17 angelman syndrome 10.2
18 macroglossia 10.2
19 down syndrome 10.2
20 pulmonary hypertension 10.2
21 microcephaly 10.2
22 chromosomal triplication 10.1
23 chromosome 9q duplication 10.1
24 papillomatosis, confluent and reticulated 10.1
25 gilles de la tourette syndrome 10.0
26 obsessive-compulsive disorder 10.0
27 polydactyly, postaxial, type a1 10.0
28 smith-magenis syndrome 10.0
29 cryptorchidism, unilateral or bilateral 10.0
30 pseudovaginal perineoscrotal hypospadias 10.0
31 polydactyly 10.0
32 valproate embryopathy 10.0
33 koolen-de vries syndrome 10.0
34 apraxia 10.0
35 hypogonadotropic hypogonadism 10.0
36 hypospadias 10.0
37 expressive language disorder 10.0
38 hypogonadism 10.0
39 movement disease 10.0
40 sleep disorder 10.0
41 hypogonadotropism 10.0
42 lung disease 10.0
43 childhood apraxia of speech 10.0
44 ring chromosome 9 10.0
45 developmental dyspraxia 10.0
46 febrile seizures 10.0
47 ring chromosome 10.0
48 deafness, autosomal recessive 79 9.9 NOTCH1 EHMT1
49 deafness, autosomal recessive 33 9.9 NOTCH1 EHMT1
50 tooth agenesis 9.9

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

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
Heart, Tongue, Brain, Testes, Eye, Bone

Publications for Kleefstra Syndrome

Articles related to Kleefstra Syndrome:

(show top 50) (show all 72)
# Title Authors PMID Year
1
First prenatal diagnosis of a 'pure' 9q34.3 deletion (Kleefstra syndrome): A case report and literature review. 38 4
29160022 2018
2
EHMT1 mosaicism in apparently unaffected parents is associated with autism spectrum disorder and neurocognitive dysfunction. 38 4
29416845 2018
3
Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder. 38 4
29069077 2017
4
Sleep Disturbance as a Precursor of Severe Regression in Kleefstra Syndrome Suggests a Need for Firm and Rapid Pharmacological Treatment. 38 4
28622207 2017
5
Adaptive and maladaptive functioning in Kleefstra syndrome compared to other rare genetic disorders with intellectual disabilities. 38 4
28498556 2017
6
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. 38 4
27651234 2016
7
A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring. 38 4
23232695 2013
8
Update on Kleefstra Syndrome. 38 4
22670141 2012
9
Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions. 38 4
21204793 2011
10
Prevalence and architecture of de novo mutations in developmental disorders. 4
28135719 2017
11
Behavioral phenotype in the 9q subtelomeric deletion syndrome: a report about two adult patients. 4
19642112 2010
12
Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype. 4
19264732 2009
13
Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome. 4
19293338 2009
14
The chromosome 9q subtelomere deletion syndrome. 4
17910072 2007
15
Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. 4
16826528 2006
16
Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome. 4
16470689 2006
17
The diverse functions of histone lysine methylation. 4
16261189 2005
18
Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome. 4
15805155 2005
19
Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly. 4
15805160 2005
20
Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome. 4
15264279 2004
21
Syndromes of disordered chromatin remodeling. 4
12859401 2003
22
Cryptic terminal deletion of chromosome 9q34: a novel cause of syndromic obesity in childhood? 4
12676904 2003
23
Cryptic chromosome rearrangements detected by subtelomere assay in patients with mental retardation and dysmorphic features. 4
12515261 2002
24
Subtle chromosomal rearrangements in children with unexplained mental retardation. 4
10568569 1999
25
[Kleefstra syndrome 1 and ring chromosome 9 in a case]. 38
31400141 2019
26
9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression. 38
31209758 2019
27
Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France. 38
30896039 2019
28
Histone 4 Lysine 20 Methylation: A Case for Neurodevelopmental Disease. 38
30832413 2019
29
Shone's complex in a patient with chromosome 9q34.3 deletion (Kleefstra syndrome). 38
30585561 2018
30
Fetal valproate syndrome as a phenocopy of Kleefstra syndrome. 38
30151876 2018
31
Pulmonary hypertension in patients with 9q34.3 microdeletion-associated Kleefstra syndrome. 38
30063093 2018
32
Increased H3K9 methylation and impaired expression of Protocadherins are associated with the cognitive dysfunctions of the Kleefstra syndrome. 38
29554304 2018
33
Biochemical validation of EHMT1 missense mutations in Kleefstra syndrome. 38
29459631 2018
34
New Insights into Kleefstra Syndrome: Report of Two Novel Cases with Previously Unreported Features and Literature Review. 38
30448833 2018
35
Hypogonadotropic Hypogonadism and Kleefstra Syndrome due to a Pathogenic Variant in the EHMT1 Gene: An Underrecognized Association. 38
30370152 2018
36
Kleefstra Syndrome: The First Case Report From Iran. 38
29228531 2017
37
Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation. 38
28645799 2017
38
Altered neurite morphology and cholinergic function of induced pluripotent stem cell-derived neurons from a patient with Kleefstra syndrome and autism. 38
28742076 2017
39
Increased first-trimester nuchal translucency associated with a dicentric chromosome and 9q34.3 microdeletion syndrome. 38
27966372 2017
40
A novel de novo frameshift deletion in EHMT1 in a patient with Kleefstra Syndrome results in decreased H3K9 dimethylation. 38
28361100 2017
41
A de novo splice site mutation in EHMT1 resulting in Kleefstra syndrome with pharmacogenomics screening and behavior therapy for regressive behaviors. 38
28361099 2017
42
A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding. 38
28057753 2017
43
Haploinsufficiency of EHMT1 improves pattern separation and increases hippocampal cell proliferation. 38
28071689 2017
44
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. 38
27789404 2016
45
Euchromatin histone methyltransferase 1 regulates cortical neuronal network development. 38
27767173 2016
46
Histone Methylation by the Kleefstra Syndrome Protein EHMT1 Mediates Homeostatic Synaptic Scaling. 38
27373831 2016
47
Expanding the phenotypic profile of Kleefstra syndrome: A female with low-average intelligence and childhood apraxia of speech. 38
26833960 2016
48
Reversible white matter lesions associated with mutant EHMT1 and Kleefstra syndrome. 38
27123477 2016
49
A structured assessment of motor function and behavior in patients with Kleefstra syndrome. 38
26808425 2016
50
Kleefstra syndrome in Hungarian patients: additional symptoms besides the classic phenotype. 38
26918030 2016

Variations for Kleefstra Syndrome

ClinVar genetic disease variations for Kleefstra Syndrome:

6 (show top 50) (show all 288)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 EHMT1 NM_024757.5(EHMT1): c.1434_1435del (p.Tyr479fs) deletion Pathogenic rs1554867189 9:140652396-140652397 9:137757944-137757945
2 EHMT1 NM_024757.5(EHMT1): c.2214_2230dup (p.Phe744fs) duplication Pathogenic rs1554880275 9:140674108-140674124 9:137779656-137779672
3 EHMT1 NM_024757.5(EHMT1): c.2224del (p.Leu742fs) deletion Pathogenic 9:140674117-140674118 9:137779666-137779666
4 EHMT1 NM_024757.5(EHMT1): c.3502C> T (p.Arg1168Ter) single nucleotide variant Pathogenic rs121918301 9:140712552-140712552 9:137818100-137818100
5 EHMT1 NM_024757.5(EHMT1): c.1413_1425del (p.Pro473fs) deletion Pathogenic rs137852715 9:140652375-140652387 9:137757923-137757935
6 EHMT1 NM_024757.5(EHMT1): c.3218G> A (p.Cys1073Tyr) single nucleotide variant Pathogenic rs137852726 9:140708920-140708920 9:137814468-137814468
7 EHMT1 NM_024757.5(EHMT1): c.871C> T (p.Arg291Ter) single nucleotide variant Pathogenic rs137852714 9:140637870-140637870 9:137743418-137743418
8 EHMT1 NM_024757.5(EHMT1): c.3181-80_3233del deletion Pathogenic rs1554896943 9:140708803-140708935 9:137814351-137814483
9 EHMT1 NM_024757.5(EHMT1): c.1529_1532AGAC[1] (p.Asp512fs) short repeat Pathogenic rs137852716 9:140657158-140657161 9:137762706-137762709
10 EHMT1 NM_024757.5(EHMT1): c.1810C> T (p.Gln604Ter) single nucleotide variant Pathogenic rs137852717 9:140671088-140671088 9:137776636-137776636
11 EHMT1 NM_024757.5(EHMT1): c.1858C> T (p.Arg620Ter) single nucleotide variant Pathogenic rs137852718 9:140671136-140671136 9:137776684-137776684
12 EHMT1 NM_024757.5(EHMT1): c.2028dup (p.Pro677fs) duplication Pathogenic rs1554879411 9:140672343-140672343 9:137777891-137777891
13 EHMT1 NM_024757.5(EHMT1): c.2193-1G> C single nucleotide variant Pathogenic rs137852720 9:140674086-140674086 9:137779634-137779634
14 EHMT1 NM_024757.5(EHMT1): c.2861_2862GT[1] (p.Val955fs) short repeat Pathogenic rs137852721 9:140706063-140706064 9:137811611-137811612
15 EHMT1 NM_024757.5(EHMT1): c.2868-1G> A single nucleotide variant Pathogenic rs137852722 9:140707457-140707457 9:137813005-137813005
16 EHMT1 NM_024757.5(EHMT1): c.2873_2876TTCT[1] (p.Ser960fs) short repeat Pathogenic rs786205129 9:140707467-140707470 9:137813015-137813018
17 EHMT1 NM_024757.5(EHMT1): c.3180+1G> T single nucleotide variant Pathogenic rs137852724 9:140707983-140707983 9:137813531-137813531
18 EHMT1 NM_024757.5(EHMT1): c.3229C> T (p.Gln1077Ter) single nucleotide variant Pathogenic rs137852725 9:140708931-140708931 9:137814479-137814479
19 EHMT1 NM_024757.5(EHMT1): c.391del (p.Ala131fs) deletion Pathogenic rs797045043 9:140611383-140611383 9:137716931-137716931
20 EHMT1 NM_024757.5(EHMT1): c.3413G> A (p.Trp1138Ter) single nucleotide variant Pathogenic rs886037776 9:140711929-140711929 9:137817477-137817477
21 EHMT1 NM_024757.5(EHMT1): c.673C> T (p.Arg225Ter) single nucleotide variant Pathogenic rs879255531 9:140622831-140622831 9:137728379-137728379
22 EHMT1 NM_024757.5(EHMT1): c.3046C> T (p.Arg1016Ter) single nucleotide variant Pathogenic 9:140707848-140707848 9:137813396-137813396
23 EHMT1 NM_024757.5(EHMT1): c.1495del (p.Ala499fs) deletion Pathogenic 9:140652457-140652457 9:137758005-137758005
24 EHMT1 NC_000009.11: g.(?_140605399)_(140652483_?)dup duplication Pathogenic 9:140605399-140652483 9:137710947-137758031
25 EHMT1 NM_024757.5(EHMT1): c.1249-2A> G single nucleotide variant Likely pathogenic 9:140648621-140648621 9:137754169-137754169
26 EHMT1 NM_024757.4(EHMT1) deletion Likely pathogenic 9:140513493-140513654 9:137619041-137619202
27 EHMT1 NM_024757.5(EHMT1): c.3310G> A (p.Glu1104Lys) single nucleotide variant Likely pathogenic rs886041093 9:140710450-140710450 9:137815998-137815998
28 EHMT1 NM_024757.5(EHMT1): c.3589C> T (p.Arg1197Trp) single nucleotide variant Likely pathogenic rs137852727 9:140728849-140728849 9:137834397-137834397
29 EHMT1 NM_024757.5(EHMT1): c.3583_3594del (p.Val1195_Phe1198del) deletion Likely pathogenic rs1554908290 9:140728843-140728854 9:137834391-137834402
30 EHMT1 NM_024757.5(EHMT1): c.2516G> T (p.Gly839Val) single nucleotide variant Likely pathogenic rs1554888939 9:140693275-140693275 9:137798823-137798823
31 EHMT1 NM_024757.5(EHMT1): c.1655G> A (p.Arg552Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs747623277 9:140669568-140669568 9:137775116-137775116
32 EHMT1 NM_024757.5(EHMT1): c.499G> A (p.Ala167Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs141282876 9:140611491-140611491 9:137717039-137717039
33 EHMT1 NM_024757.5(EHMT1): c.1369+9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs146125583 9:140648752-140648752 9:137754300-137754300
34 EHMT1 NM_024757.5(EHMT1): c.2186C> T (p.Ser729Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs398124404 9:140672501-140672501 9:137778049-137778049
35 EHMT1 NM_024757.5(EHMT1): c.3555C> T (p.Tyr1185=) single nucleotide variant Conflicting interpretations of pathogenicity rs398124407 9:140728815-140728815 9:137834363-137834363
36 EHMT1 NM_024757.5(EHMT1): c.1865A> G (p.Asn622Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs184814386 9:140671143-140671143 9:137776691-137776691
37 EHMT1 NM_024757.5(EHMT1): c.271A> T (p.Ile91Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs144949902 9:140611263-140611263 9:137716811-137716811
38 EHMT1 NM_024757.5(EHMT1): c.1947G> A (p.Ser649=) single nucleotide variant Conflicting interpretations of pathogenicity rs139206060 9:140671225-140671225 9:137776773-137776773
39 EHMT1 NM_024757.5(EHMT1): c.1360G> A (p.Gly454Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs774046148 9:140648734-140648734 9:137754282-137754282
40 EHMT1 NM_024757.5(EHMT1): c.159G> T (p.Glu53Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs202066668 9:140611151-140611151 9:137716699-137716699
41 EHMT1 NM_024757.5(EHMT1): c.576G> A (p.Pro192=) single nucleotide variant Conflicting interpretations of pathogenicity rs574514175 9:140611568-140611568 9:137717116-137717116
42 EHMT1 NM_024757.5(EHMT1): c.905A> G (p.Lys302Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs565065320 9:140637904-140637904 9:137743452-137743452
43 EHMT1 NM_024757.5(EHMT1): c.183C> T (p.Ser61=) single nucleotide variant Conflicting interpretations of pathogenicity rs774448433 9:140611175-140611175 9:137716723-137716723
44 EHMT1 NM_024757.5(EHMT1): c.2595C> T (p.Asp865=) single nucleotide variant Conflicting interpretations of pathogenicity rs780742937 9:140693354-140693354 9:137798902-137798902
45 EHMT1 NM_024757.5(EHMT1): c.2695A> G (p.Ile899Val) single nucleotide variant Conflicting interpretations of pathogenicity rs144085805 9:140695419-140695419 9:137800967-137800967
46 EHMT1 NM_024757.5(EHMT1): c.70G> A (p.Glu24Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs373269573 9:140605467-140605467 9:137711015-137711015
47 EHMT1 NM_024757.5(EHMT1): c.3355G> A (p.Val1119Ile) single nucleotide variant Conflicting interpretations of pathogenicity 9:140710495-140710495 9:137816043-137816043
48 EHMT1 NM_024757.5(EHMT1): c.1402G> A (p.Ala468Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs202097707 9:140652364-140652364 9:137757912-137757912
49 EHMT1 NM_024757.5(EHMT1): c.3123C> G (p.Val1041=) single nucleotide variant Conflicting interpretations of pathogenicity rs141527497 9:140707925-140707925 9:137813473-137813473
50 EHMT1 NM_024757.5(EHMT1): c.150G> A (p.Ala50=) single nucleotide variant Conflicting interpretations of pathogenicity rs371344592 9:140611142-140611142 9:137716690-137716690

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.31 KMT2C EHMT1
2 10.78 NOTCH1 KMT2C
3 10.39 KMT2C EHMT1

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

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 ZNF589 NOTCH1 EHMT1
2 histone lysine methylation GO:0034968 8.62 KMT2C EHMT1

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 ZNF589 WIZ NOTCH1 KMT2C EHMT1
2 histone-lysine N-methyltransferase activity GO:0018024 8.62 KMT2C EHMT1

Sources for Kleefstra Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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