KLEFS1
MCID: KLF004
MIFTS: 50

Kleefstra Syndrome 1 (KLEFS1)

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

Aliases & Classifications for Kleefstra Syndrome 1

MalaCards integrated aliases for Kleefstra Syndrome 1:

Name: Kleefstra Syndrome 1 56 12 73 29 6 15
9q Subtelomeric Deletion Syndrome 56 12 58
Kleefstra Syndrome 58 43 71
Chromosome 9q34.3 Deletion Syndrome 56 73
9q34 Deletion Syndrome 12 74
9q- Syndrome 56 73
Klefs1 56 73
Kleefstra Syndrome Due to 9q Subtelomeric Deletion 58
Kleefstra Syndrome Due to 9q34 Microdeletion 58
Chromosome 9q Subtelomeric Deletion Syndrome 73
Kleefstra Syndrome Due to Monosomy 9q34 58
Kleefstra Syndrome Due to Del(9)(q34) 58
Syndrome, Kleefstra, Type 1 39
9q-Syndrome 12
9qstds 58

Characteristics:

Orphanet epidemiological data:

58
kleefstra syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: elderly;
kleefstra syndrome due to 9q34 microdeletion
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation in most cases
many cases have submicroscopic subtelomeric deletions of chromosome 9q leading to haploinsufficiency of ehmt1


HPO:

31
kleefstra syndrome 1:
Inheritance autosomal dominant inheritance sporadic


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Kleefstra Syndrome 1

OMIM : 56 Submicroscopic subtelomeric deletions of chromosome 9q are associated with a recognizable mental retardation syndrome (Harada et al., 2004; Iwakoshi et al., 2004; Stewart et al., 2004; Neas et al., 2005). Common features in patients with 9q subtelomeric deletion syndrome are severe mental retardation, hypotonia, brachy(micro)cephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects. (610253)

MalaCards based summary : Kleefstra Syndrome 1, also known as 9q subtelomeric deletion syndrome, is related to kleefstra syndrome and kleefstra syndrome due to a point mutation, and has symptoms including seizures An important gene associated with Kleefstra Syndrome 1 is EHMT1 (Euchromatic Histone Lysine Methyltransferase 1), and among its related pathways/superpathways are Chromatin organization and PKMTs methylate histone lysines. Affiliated tissues include heart, testis and tongue, and related phenotypes are intellectual disability and global developmental delay

Disease Ontology : 12 A syndrome that is characterized by severe mental retardation, hypotonia, brachy(micro)cephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects 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.

UniProtKB/Swiss-Prot : 73 Kleefstra syndrome 1: A form of Kleefstra syndrome, an autosomal dominant disease characterized by variable mental retardation, psychomotor developmental delay, seizures, behavioral abnormalities, and facial dysmorphisms. KLEFS1 patients additionally manifest brachy(micro)cephaly, congenital heart defects, and urogenital defects.

Wikipedia : 74 9q34 deletion syndrome is a rare genetic disorder. Terminal deletions of chromosome 9q34 have been... more...

Related Diseases for Kleefstra Syndrome 1

Diseases in the Kleefstra Syndrome family:

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

Diseases related to Kleefstra Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 71)
# Related Disease Score Top Affiliating Genes
1 kleefstra syndrome 28.2 ZMYND19 PAGR1 PAEP NR1I3 MBD5 KDM4C
2 kleefstra syndrome due to a point mutation 12.3
3 kleefstra syndrome 2 11.3
4 alacrima, achalasia, and mental retardation syndrome 10.7
5 hypotonia 10.5
6 autism spectrum disorder 10.4
7 microcephaly 10.3
8 autism 10.3
9 waardenburg syndrome, type 2d 10.2 ZMYND19 PAGR1 ARRDC1-AS1
10 mental retardation, x-linked, syndromic, claes-jensen type 10.2 PWWP2B KDM4C
11 epicanthus 10.2
12 hypertelorism 10.2
13 neural tube defects 10.2
14 branchiootic syndrome 1 10.2
15 neuroblastoma 10.2
16 exophthalmos 10.2
17 hypopituitarism 10.2
18 microtia 10.2
19 christianson syndrome 10.2 MBD5 EHMT1
20 angelman syndrome 10.2
21 macroglossia 10.2
22 down syndrome 10.2
23 pulmonary hypertension 10.2
24 biliary tract disease 10.1 NR1I3 KDM4C H2AC18
25 chromosomal triplication 10.1
26 chromosome 9q duplication 10.1
27 specific developmental disorder 10.1 PAGR1 KDM4C H2AC18
28 ring chromosome 9 10.0
29 ring chromosome 10.0
30 nut midline carcinoma 10.0 NSD3 KDM4C H2AC18
31 gilles de la tourette syndrome 10.0
32 obsessive-compulsive disorder 10.0
33 smith-magenis syndrome 10.0
34 cryptorchidism, unilateral or bilateral 10.0
35 abnormal hair, joint laxity, and developmental delay 10.0
36 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 10.0
37 polydactyly 10.0
38 valproate embryopathy 10.0
39 koolen-de vries syndrome 10.0
40 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
41 apraxia 10.0
42 hypogonadotropic hypogonadism 10.0
43 hypospadias 10.0
44 expressive language disorder 10.0
45 hypogonadism 10.0
46 dysostosis 10.0
47 movement disease 10.0
48 sleep disorder 10.0
49 lung disease 10.0
50 hypoplastic left heart syndrome 10.0

Graphical network of the top 20 diseases related to Kleefstra Syndrome 1:



Diseases related to Kleefstra Syndrome 1

Symptoms & Phenotypes for Kleefstra Syndrome 1

Human phenotypes related to Kleefstra Syndrome 1:

58 31 (show top 50) (show all 112)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001263
3 hypertelorism 58 31 frequent (33%) Very frequent (99-80%),Very frequent (99-80%) HP:0000316
4 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001252
5 short nose 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0003196
6 anteverted nares 58 31 frequent (33%) Very frequent (99-80%),Very frequent (99-80%) HP:0000463
7 dysphasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002357
8 brachycephaly 58 31 frequent (33%) Very frequent (99-80%),Frequent (79-30%) HP:0000248
9 everted lower lip vermilion 58 31 frequent (33%) Very frequent (99-80%),Very frequent (99-80%) HP:0000232
10 specific learning disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001328
11 highly arched eyebrow 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0002553
12 flat occiput 58 31 hallmark (90%) Very frequent (99-80%) HP:0005469
13 aphasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002381
14 echolalia 58 31 hallmark (90%) Very frequent (99-80%) HP:0010529
15 mutism 58 31 hallmark (90%) Very frequent (99-80%) HP:0002300
16 macroglossia 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000158
17 coarse facial features 58 31 frequent (33%) Very frequent (99-80%) HP:0000280
18 mandibular prognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000303
19 recurrent respiratory infections 58 31 frequent (33%) Occasional (29-5%) HP:0002205
20 delayed speech and language development 58 31 frequent (33%) Very frequent (99-80%) HP:0000750
21 sleep disturbance 58 31 frequent (33%) Occasional (29-5%),Frequent (79-30%) HP:0002360
22 microcephaly 58 31 very rare (1%) Frequent (79-30%),Frequent (79-30%) HP:0000252
23 stereotypy 58 31 frequent (33%) Occasional (29-5%) HP:0000733
24 cryptorchidism 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0000028
25 autism 58 31 frequent (33%) Frequent (79-30%) HP:0000717
26 obesity 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001513
27 upslanted palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0000582
28 downturned corners of mouth 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0002714
29 protruding tongue 58 31 frequent (33%) Frequent (79-30%) HP:0010808
30 micropenis 58 31 frequent (33%) Occasional (29-5%) HP:0000054
31 abnormal cardiac septum morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001671
32 malar flattening 58 31 frequent (33%) Very frequent (99-80%) HP:0000272
33 hypospadias 58 31 frequent (33%) Occasional (29-5%) HP:0000047
34 midface retrusion 58 31 frequent (33%) Frequent (79-30%) HP:0011800
35 synophrys 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000664
36 status epilepticus 58 31 frequent (33%) Frequent (79-30%) HP:0002133
37 aggressive behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000718
38 u-shaped upper lip vermilion 31 frequent (33%) HP:0010806
39 abnormality of the pinna 31 frequent (33%) HP:0000377
40 generalized non-motor (absence) seizure 31 frequent (33%) HP:0002121
41 epileptic spasm 31 frequent (33%) HP:0011097
42 hearing impairment 58 31 very rare (1%) Occasional (29-5%),Frequent (79-30%) HP:0000365
43 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
44 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
45 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
46 renal insufficiency 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000083
47 irritability 58 31 occasional (7.5%) Occasional (29-5%) HP:0000737
48 feeding difficulties 58 31 occasional (7.5%) Occasional (29-5%) HP:0011968
49 growth delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001510
50 anxiety 58 31 occasional (7.5%) Occasional (29-5%) HP:0000739

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Mouth:
macroglossia
everted lower lip
carp-shaped mouth

Neurologic Central Nervous System:
seizures
hypotonia
mental retardation, severe

Head And Neck Nose:
anteverted nares

Growth Weight:
obesity

Skin Nails Hair Hair:
synophrys

Head And Neck Ears:
hearing loss
malformed ears

Head And Neck Eyes:
hypertelorism
synophrys
upslanting palpebral fissures

Head And Neck Head:
microcephaly
brachycephaly

Head And Neck Face:
flat face
midface hypoplasia
prognathism
coarse facies

Skeletal Hands:
brachydactyly
single transverse palmar creases

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior
stereotypic movements
behavioral problems
obsessive-compulsive disorder
sleep disorders

Cardiovascular Heart:
conotruncal heart defects

Clinical features from OMIM:

610253

UMLS symptoms related to Kleefstra Syndrome 1:


seizures

Drugs & Therapeutics for Kleefstra Syndrome 1

Search Clinical Trials , NIH Clinical Center for Kleefstra Syndrome 1

Cochrane evidence based reviews: kleefstra syndrome

Genetic Tests for Kleefstra Syndrome 1

Genetic tests related to Kleefstra Syndrome 1:

# Genetic test Affiliating Genes
1 Kleefstra Syndrome 1 29 EHMT1

Anatomical Context for Kleefstra Syndrome 1

MalaCards organs/tissues related to Kleefstra Syndrome 1:

40
Heart, Testis, Tongue

Publications for Kleefstra Syndrome 1

Articles related to Kleefstra Syndrome 1:

(show all 12)
# Title Authors PMID Year
1
Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability. 6 56
22726846 2012
2
Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype. 56 6
19264732 2009
3
Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. 6 56
16826528 2006
4
Kleefstra syndrome in three adult patients: further delineation of the behavioral and neurological phenotype shows aspects of a neurodegenerative course. 56
21910222 2011
5
Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions. 56
21204793 2011
6
Kleefstra Syndrome 6
20945554 2010
7
Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome. 56
19293338 2009
8
Three patients with terminal deletions within the subtelomeric region of chromosome 9q. 56
15633179 2005
9
Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome. 56
15264279 2004
10
9q34.3 deletion syndrome in three unrelated children. 56
15054842 2004
11
A 1-Mb critical region in six patients with 9q34.3 terminal deletion syndrome. 56
15258833 2004
12
[Kleefstra syndrome 1 and ring chromosome 9 in a case]. 61
31400141 2019

Variations for Kleefstra Syndrome 1

ClinVar genetic disease variations for Kleefstra Syndrome 1:

6 (show top 50) (show all 419) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 EHMT1 NM_024757.5(EHMT1):c.1434_1435del (p.Tyr479fs)deletion Pathogenic 431703 rs1554867189 9:140652396-140652397 9:137757944-137757945
2 EHMT1 NM_024757.5(EHMT1):c.2214_2230dup (p.Phe744fs)duplication Pathogenic 438289 rs1554880275 9:140674107-140674108 9:137779655-137779656
3 EHMT1 NM_024757.5(EHMT1):c.2224del (p.Leu742fs)deletion Pathogenic 560999 rs1564744631 9:140674118-140674118 9:137779666-137779666
4 EHMT1 NM_024757.5(EHMT1):c.3046C>T (p.Arg1016Ter)SNV Pathogenic 566937 rs1429360126 9:140707848-140707848 9:137813396-137813396
5 EHMT1 NM_024757.5(EHMT1):c.1495del (p.Ala499fs)deletion Pathogenic 620057 rs1564704457 9:140652457-140652457 9:137758005-137758005
6 EHMT1 NM_024757.5(EHMT1):c.2566C>T (p.Gln856Ter)SNV Pathogenic 666593 9:140693325-140693325 9:137798873-137798873
7 PAEP NM_002571.4(PAEP):c.311-444_*248deldeletion Pathogenic 666598 9:138455646-138458646 9:135563800-135566800
8 EHMT1 NM_024757.5(EHMT1):c.3443del (p.Pro1148fs)deletion Pathogenic 694702 9:140711958-140711958 9:137817506-137817506
9 EHMT1 NM_024757.5(EHMT1):c.2976del (p.Ser992fs)deletion Pathogenic 802552 9:140707566-140707566 9:137813114-137813114
10 EHMT1 NM_024757.5(EHMT1):c.3709C>T (p.Gln1237Ter)SNV Pathogenic 802554 9:140728969-140728969 9:137834517-137834517
11 subset of 79 genes: EHMT1 NC_000009.11:g.(?_138645763)_(140729425_?)deldeletion Pathogenic 831360 9:138645763-140729425
12 subset of 29 genes: EHMT1 NC_000009.12:g.(?_137139467)_(137834973_?)deldeletion Pathogenic 830975 9:140033919-140729425
13 EHMT1 NM_024757.5(EHMT1):c.40dup (p.Glu14fs)duplication Pathogenic 852882 9:140605431-140605432 9:137710979-137710980
14 EHMT1 NM_024757.5(EHMT1):c.3502C>T (p.Arg1168Ter)SNV Pathogenic 3605 rs121918301 9:140712552-140712552 9:137818100-137818100
15 EHMT1 NM_024757.5(EHMT1):c.1413_1425del (p.Pro473fs)deletion Pathogenic 3606 rs137852715 9:140652371-140652383 9:137757919-137757931
16 EHMT1 NM_024757.5(EHMT1):c.3218G>A (p.Cys1073Tyr)SNV Pathogenic 3607 rs137852726 9:140708920-140708920 9:137814468-137814468
17 EHMT1 NM_024757.5(EHMT1):c.871C>T (p.Arg291Ter)SNV Pathogenic 3608 rs137852714 9:140637870-140637870 9:137743418-137743418
18 EHMT1 NM_024757.5(EHMT1):c.3181-80_3233deldeletion Pathogenic 41267 rs1554896943 9:140708803-140708935 9:137814351-137814483
19 EHMT1 NM_024757.5(EHMT1):c.1810C>T (p.Gln604Ter)SNV Pathogenic 65728 rs137852717 9:140671088-140671088 9:137776636-137776636
20 EHMT1 NM_024757.5(EHMT1):c.1858C>T (p.Arg620Ter)SNV Pathogenic 65729 rs137852718 9:140671136-140671136 9:137776684-137776684
21 EHMT1 NM_024757.5(EHMT1):c.2028dup (p.Pro677fs)duplication Pathogenic 65730 rs1554879411 9:140672340-140672341 9:137777888-137777889
22 EHMT1 NM_024757.5(EHMT1):c.2193-1G>CSNV Pathogenic 65731 rs137852720 9:140674086-140674086 9:137779634-137779634
23 EHMT1 NM_024757.5(EHMT1):c.2861_2862GT[1] (p.Val955fs)short repeat Pathogenic 65732 rs137852721 9:140706060-140706061 9:137811608-137811609
24 EHMT1 NM_024757.5(EHMT1):c.2868-1G>ASNV Pathogenic 65733 rs137852722 9:140707457-140707457 9:137813005-137813005
25 EHMT1 NM_024757.5(EHMT1):c.2873_2876TTCT[1] (p.Ser960fs)short repeat Pathogenic 65734 rs786205129 9:140707460-140707463 9:137813008-137813011
26 EHMT1 NM_024757.5(EHMT1):c.3180+1G>TSNV Pathogenic 65735 rs137852724 9:140707983-140707983 9:137813531-137813531
27 EHMT1 NM_024757.5(EHMT1):c.3229C>T (p.Gln1077Ter)SNV Pathogenic 65736 rs137852725 9:140708931-140708931 9:137814479-137814479
28 EHMT1 NM_024757.5(EHMT1):c.1529_1532AGAC[1] (p.Asp512fs)short repeat Pathogenic 65726 rs137852716 9:140657154-140657157 9:137762702-137762705
29 EHMT1 NM_024757.5(EHMT1):c.391del (p.Ala131fs)deletion Pathogenic 209152 rs797045043 9:140611382-140611382 9:137716930-137716930
30 EHMT1 NM_024757.5(EHMT1):c.3413G>A (p.Trp1138Ter)SNV Pathogenic 221980 rs886037776 9:140711929-140711929 9:137817477-137817477
31 EHMT1 NM_024757.5(EHMT1):c.2712+1G>ASNV Pathogenic 374034 rs1057518849 9:140695437-140695437 9:137800985-137800985
32 EHMT1 NM_024757.5(EHMT1):c.1647+2T>CSNV Pathogenic/Likely pathogenic 374120 rs1057518913 9:140657274-140657274 9:137762822-137762822
33 EHMT1 NM_024757.5(EHMT1):c.673C>T (p.Arg225Ter)SNV Pathogenic/Likely pathogenic 252987 rs879255531 9:140622831-140622831 9:137728379-137728379
34 EHMT1 NM_024757.5(EHMT1):c.3310G>A (p.Glu1104Lys)SNV Likely pathogenic 268206 rs886041093 9:140710450-140710450 9:137815998-137815998
35 EHMT1 NM_024757.5(EHMT1):c.3589C>T (p.Arg1197Trp)SNV Likely pathogenic 65737 rs137852727 9:140728849-140728849 9:137834397-137834397
36 EHMT1 NC_000009.12:g.(?_137743351)_(137744110_?)dupduplication Likely pathogenic 831964 9:140637803-140638562
37 EHMT1 NC_000009.12:g.(?_137790828)_(137790990_?)deldeletion Likely pathogenic 830651 9:140685280-140685442
38 EHMT1 NC_000009.12:g.(?_137790828)_(137818158_?)deldeletion Likely pathogenic 831008 9:140685280-140712610
39 EHMT1 NM_024757.5(EHMT1):c.3252C>G (p.Tyr1084Ter)SNV Likely pathogenic 802553 9:140708954-140708954 9:137814502-137814502
40 EHMT1 NM_024757.5(EHMT1):c.1042_1043dup (p.Asp349fs)duplication Likely pathogenic 666585 9:140638412-140638413 9:137743960-137743961
41 EHMT1 NC_000009.11:g.(?_140605399)_(140652483_?)dupduplication Likely pathogenic 662276 9:140605399-140652483 9:137710947-137758031
42 EHMT1 NM_024757.5(EHMT1):c.1249-2A>GSNV Likely pathogenic 619987 rs1564697048 9:140648621-140648621 9:137754169-137754169
43 EHMT1 NC_000009.11:g.(?_140657107)_(140685442_?)dupduplication Likely pathogenic 583643 9:140657107-140685442 9:137762655-137790990
44 EHMT1 NM_024757.5(EHMT1):c.13_21+153deldeletion Likely pathogenic 573983 rs1564509503 9:140513484-140513645 9:137619032-137619193
45 EHMT1 NM_024757.5(EHMT1):c.2516G>T (p.Gly839Val)SNV Likely pathogenic 522804 rs1554888939 9:140693275-140693275 9:137798823-137798823
46 EHMT1 NM_024757.5(EHMT1):c.3583_3594del (p.Val1195_Phe1198del)deletion Likely pathogenic 435046 rs1554908290 9:140728842-140728853 9:137834390-137834401
47 EHMT1 NM_024757.5(EHMT1):c.1655G>A (p.Arg552Gln)SNV Conflicting interpretations of pathogenicity 462980 rs747623277 9:140669568-140669568 9:137775116-137775116
48 EHMT1 NM_024757.5(EHMT1):c.1951G>A (p.Val651Met)SNV Conflicting interpretations of pathogenicity 425474 rs188452845 9:140671229-140671229 9:137776777-137776777
49 EHMT1 NM_024757.5(EHMT1):c.1433G>A (p.Gly478Glu)SNV Conflicting interpretations of pathogenicity 462979 rs376787713 9:140652395-140652395 9:137757943-137757943
50 EHMT1 NM_024757.5(EHMT1):c.23C>T (p.Ala8Val)SNV Conflicting interpretations of pathogenicity 531856 rs375391530 9:140605420-140605420 9:137710968-137710968

UniProtKB/Swiss-Prot genetic disease variations for Kleefstra Syndrome 1:

73
# Symbol AA change Variation ID SNP ID
1 EHMT1 p.Cys1075Tyr VAR_069183

Expression for Kleefstra Syndrome 1

Search GEO for disease gene expression data for Kleefstra Syndrome 1.

Pathways for Kleefstra Syndrome 1

Pathways related to Kleefstra Syndrome 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.01 NSD3 KDM4C KAT7 ING5 H2AC18 EHMT2
2
Show member pathways
11.48 NSD3 EHMT2 EHMT1
3 10.92 NSD3 EHMT2 EHMT1

GO Terms for Kleefstra Syndrome 1

Cellular components related to Kleefstra Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromosome GO:0005694 9.23 NSD3 MBD5 KAT7 ING5 H3-2 H2AC18

Biological processes related to Kleefstra Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of signal transduction by p53 class mediator GO:1901796 9.63 ING5 EHMT2 EHMT1
2 DNA methylation GO:0006306 9.48 EHMT2 EHMT1
3 histone H3-K9 methylation GO:0051567 9.43 EHMT2 EHMT1
4 histone H3-K14 acetylation GO:0044154 9.4 KAT7 ING5
5 peptidyl-lysine dimethylation GO:0018027 9.37 EHMT2 EHMT1
6 histone methylation GO:0016571 9.33 NSD3 EHMT2 EHMT1
7 response to fungicide GO:0060992 9.32 EHMT2 EHMT1
8 histone H3-K27 methylation GO:0070734 9.26 EHMT2 EHMT1
9 chromatin organization GO:0006325 9.17 NSD3 KDM4C KAT7 ING5 H2AC18 EHMT2
10 histone lysine methylation GO:0034968 9.13 NSD3 EHMT2 EHMT1

Molecular functions related to Kleefstra Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 10 ZMYND19 NSD3 NR1I3 KDM4C KAT7 ING5
2 zinc ion binding GO:0008270 9.8 NR1I3 KDM4C KAT7 EHMT2 EHMT1 BSPRY
3 protein-lysine N-methyltransferase activity GO:0016279 9.4 EHMT2 EHMT1
4 C2H2 zinc finger domain binding GO:0070742 9.37 EHMT2 EHMT1
5 histone methyltransferase activity (H3-K9 specific) GO:0046974 9.16 EHMT2 EHMT1
6 histone methyltransferase activity (H3-K27 specific) GO:0046976 8.96 EHMT2 EHMT1
7 histone-lysine N-methyltransferase activity GO:0018024 8.8 NSD3 EHMT2 EHMT1

Sources for Kleefstra Syndrome 1

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