Kleefstra Syndrome 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

KLEFS1 MCID: KLF004 MIFTS: 55	Kleefstra Syndrome 1 (KLEFS1) Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Kleefstra Syndrome 1

MalaCards integrated aliases for Kleefstra Syndrome 1:

Name: Kleefstra Syndrome 1 ⁵⁶ ¹² ⁷³ ⁶

Kleefstra Syndrome ⁵⁸ ⁴³ ¹⁵ ⁷¹

9q Subtelomeric Deletion Syndrome ⁵⁶ ¹² ⁵⁸

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

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:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Mental diseases Eye diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Other specified congenital malformation syndromes, not elsewhere classified

Orphanet: ⁵⁸

Rare neurological diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0060352

OMIM ⁵⁶ 610253

OMIM Phenotypic Series ⁵⁶ PS156200 PS610253

MeSH ⁴³ C563043 D006330 D008607 more

NCIt ⁴⁹ C129976

ICD10 via Orphanet ³³ Q87.8

UMLS via Orphanet ⁷² C0795833

Orphanet ⁵⁸ ORPHA261494 ORPHA96147

MedGen ⁴¹ C0795833

SNOMED-CT via HPO ⁶⁸ 103276001 109504005 12479006 more

UMLS ⁷¹ C0795833

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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 kleefstra syndrome, is related to kleefstra syndrome due to a point mutation and alacrima, achalasia, and mental retardation syndrome, 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 Chromatin Regulation / Acetylation. Affiliated tissues include heart, brain and testis, and related phenotypes are hypertelorism and intellectual disability

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...

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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 92)

#	Related Disease	Score	Top Affiliating Genes
1	kleefstra syndrome due to a point mutation	34.2	KMT2C EHMT1
2	alacrima, achalasia, and mental retardation syndrome	31.1	UBE3A RAI1 MECP2 KMT2C KDM5C EHMT1
3	kleefstra syndrome	30.7	PAEP NR1I3 KMT2C EHMT1
4	angelman syndrome	30.5	UBE3A MECP2 H2AC18 CDKL5
5	autism spectrum disorder	30.4	UBE3A RAI1 MECP2 MBD5 KMT2D KMT2C
6	smith-magenis syndrome	30.4	RAI1 MECP2 KMT2D KDM5C
7	autism	30.2	UBE3A RAI1 MECP2 MBD5 KDM5C KDM4C
8	kleefstra syndrome 2	11.3
9	hypotonia	10.5
10	nut midline carcinoma	10.4	KMT2C KDM4C H2AC18
11	syndromic intellectual disability	10.4	SLC9A7 MECP2 H2AC18
12	chromosomal duplication syndrome	10.4	RAI1 MECP2 KDM4C
13	hypotrichosis 2	10.4	WIZ H3-2 H2AC18
14	potocki-lupski syndrome	10.4	RAI1 MECP2 KDM4C
15	infratentorial cancer	10.4	KMT2D KDM4C H2AC18
16	kbg syndrome	10.4	MECP2 KMT2D KDM6A
17	gait apraxia	10.4	MECP2 CDKL5
18	syndromic x-linked intellectual disability siderius type	10.3	KDM5C KDM4C
19	fetal alcohol spectrum disorder	10.3	MECP2 KDM4C H2AC18 EHMT2
20	brain stem glioma	10.3	KDM6A KDM4C H3-2
21	chromosomal deletion syndrome	10.3	RAI1 MECP2 H2AC18
22	retinal cancer	10.3	KDM4C H3-2 H2AC18
23	bruxism	10.3	UBE3A MECP2 CDKL5
24	alpha thalassemia-x-linked intellectual disability syndrome	10.3	MECP2 KDM5C H3-2 H2AC18
25	microcephaly	10.3
26	cornelia de lange syndrome	10.3	MECP2 MBD5 H3-2 H2AC18
27	syndromic x-linked intellectual disability	10.3	SLC9A7 MECP2 H2AC18
28	chromosomal disease	10.3	UBE3A RAI1 MECP2 H2AC18
29	beckwith-wiedemann syndrome	10.3	UBE3A KDM4C H2AC18 EHMT2
30	physical disorder	10.3	MECP2 KDM4C H2AC18
31	biliary tract disease	10.3	NR1I3 KDM4C H2AC18
32	congenital nervous system abnormality	10.3	UBE3A MECP2 H2AC18 CDKL5
33	lubs x-linked mental retardation syndrome	10.2	UBE3A PCDHB1 MECP2 CDKL5
34	immunodeficiency-centromeric instability-facial anomalies syndrome	10.2	PCDHB1 MECP2 H3-2 H2AC18 EHMT2
35	epileptic encephalopathy, early infantile, 6	10.2	UBE3A SLC9A7 MECP2 CDKL5
36	wolf-hirschhorn syndrome	10.2	H3-2 H2AC18 EHMT1
37	epicanthus	10.2
38	hypertelorism	10.2
39	neural tube defects	10.2
40	branchiootic syndrome 1	10.2
41	neuroblastoma	10.2
42	exophthalmos	10.2
43	hypopituitarism	10.2
44	microtia	10.2
45	specific developmental disorder	10.2	UBE3A MECP2 KDM4C H2AC18 CDKL5
46	macroglossia	10.2
47	down syndrome	10.2
48	pulmonary hypertension	10.2
49	mowat-wilson syndrome	10.1	UBE3A SLC9A7 MECP2 MBD5 CDKL5
50	early infantile epileptic encephalopathy	10.1	UBE3A SLC9A7 MECP2 CDKL5

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

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Symptoms & Phenotypes for Kleefstra Syndrome 1

Human phenotypes related to Kleefstra Syndrome 1:

⁵⁸ ³¹ (show top 50) (show all 109)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	hypertelorism ⁵⁸ ³¹	frequent (33%)	Very frequent (99-80%),Very frequent (99-80%)	HP:0000316
2	intellectual disability ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001249
3	dysphasia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002357
4	muscular hypotonia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%),Very frequent (99-80%)	HP:0001252
5	global developmental delay ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%),Very frequent (99-80%)	HP:0001263
6	short nose ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%),Very frequent (99-80%)	HP:0003196
7	anteverted nares ⁵⁸ ³¹	frequent (33%)	Very frequent (99-80%),Very frequent (99-80%)	HP:0000463
8	brachycephaly ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%),Very frequent (99-80%)	HP:0000248
9	highly arched eyebrow ⁵⁸ ³¹	hallmark (90%)	Frequent (79-30%),Very frequent (99-80%)	HP:0002553
10	everted lower lip vermilion ⁵⁸ ³¹	frequent (33%)	Very frequent (99-80%),Very frequent (99-80%)	HP:0000232
11	specific learning disability ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001328
12	aphasia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002381
13	echolalia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0010529
14	flat occiput ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0005469
15	mutism ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002300
16	malar flattening ⁵⁸ ³¹	frequent (33%)	Very frequent (99-80%)	HP:0000272
17	obesity ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%),Frequent (79-30%)	HP:0001513
18	sleep disturbance ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%),Occasional (29-5%)	HP:0002360
19	macroglossia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%),Frequent (79-30%)	HP:0000158
20	coarse facial features ⁵⁸ ³¹	frequent (33%)	Very frequent (99-80%)	HP:0000280
21	mandibular prognathia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000303
22	recurrent respiratory infections ⁵⁸ ³¹	frequent (33%)	Occasional (29-5%)	HP:0002205
23	delayed speech and language development ⁵⁸ ³¹	frequent (33%)	Very frequent (99-80%)	HP:0000750
24	cryptorchidism ⁵⁸ ³¹	frequent (33%)	Occasional (29-5%),Frequent (79-30%)	HP:0000028
25	microcephaly ⁵⁸ ³¹	very rare (1%)	Frequent (79-30%),Frequent (79-30%)	HP:0000252
26	midface retrusion ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0011800
27	stereotypy ⁵⁸ ³¹	frequent (33%)	Occasional (29-5%)	HP:0000733
28	autism ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000717
29	hypospadias ⁵⁸ ³¹	frequent (33%)	Occasional (29-5%)	HP:0000047
30	micropenis ⁵⁸ ³¹	frequent (33%)	Occasional (29-5%)	HP:0000054
31	upslanted palpebral fissure ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000582
32	synophrys ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%),Frequent (79-30%)	HP:0000664
33	aggressive behavior ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000718
34	downturned corners of mouth ⁵⁸ ³¹	frequent (33%)	Occasional (29-5%),Frequent (79-30%)	HP:0002714
35	absence seizure ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002121
36	status epilepticus ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002133
37	abnormal cardiac septum morphology ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001671
38	protruding tongue ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0010808
39	epileptic spasms ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0011097
40	abnormality of the pinna ³¹	frequent (33%)		HP:0000377
41	u-shaped upper lip vermilion ³¹	frequent (33%)		HP:0010806
42	agenesis of corpus callosum ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%),Occasional (29-5%)	HP:0001274
43	failure to thrive ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001508
44	depressivity ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000716
45	hearing impairment ⁵⁸ ³¹	very rare (1%)	Frequent (79-30%),Occasional (29-5%)	HP:0000365
46	inguinal hernia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000023
47	feeding difficulties ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0011968
48	gastroesophageal reflux ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002020
49	renal insufficiency ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%),Occasional (29-5%)	HP:0000083
50	irritability ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000737

Symptoms via clinical synopsis from OMIM:

⁵⁶

Head And Neck Eyes:
hypertelorism
synophrys
upslanting palpebral fissures

Neurologic Central Nervous System:
seizures
hypotonia
mental retardation, severe

Skeletal Hands:
brachydactyly
single transverse palmar creases

Head And Neck Nose:
anteverted nares

Skin Nails Hair Hair:
synophrys

Head And Neck Ears:
hearing loss
malformed ears

Growth Weight:
obesity

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

Head And Neck Head:
microcephaly
brachycephaly

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

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

MGI Mouse Phenotypes related to Kleefstra Syndrome 1:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	growth/size/body region	MP:0005378	9.93	EHMT1 EHMT2 KDM4C KDM5C KDM6A KMT2C
2	mortality/aging	MP:0010768	9.8	EHMT1 EHMT2 KDM4C KDM5C KDM6A KMT2C
3	nervous system	MP:0003631	9.36	CDKL5 EHMT1 EHMT2 KDM5C KDM6A KMT2D

Sources

Drugs & Therapeutics for Kleefstra Syndrome 1

Search Clinical Trials , NIH Clinical Center for Kleefstra Syndrome 1

Cochrane evidence based reviews: kleefstra syndrome

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Genetic Tests for Kleefstra Syndrome 1

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Anatomical Context for Kleefstra Syndrome 1

MalaCards organs/tissues related to Kleefstra Syndrome 1:

⁴⁰

Heart, Brain, Testis, Tongue, Bone, Eye, Lung

Sources

Publications for Kleefstra Syndrome 1

Articles related to Kleefstra Syndrome 1:

(show top 50) (show all 68)

#	Title	Authors	PMID	Year
1	Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability. ⁶¹ ⁵⁶ ⁶	Kleefstra T...van Bokhoven H	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	Kleefstra T...Brunner HG	19264732	2009
3	Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. ⁵⁶ ⁶	Kleefstra T...van Bokhoven H	16826528	2006
4	Kleefstra syndrome in three adult patients: further delineation of the behavioral and neurological phenotype shows aspects of a neurodegenerative course. ⁶¹ ⁵⁶	Verhoeven WM...Kleefstra T	21910222	2011
5	Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions. ⁶¹ ⁵⁶	Willemsen MH...Kleefstra T	21204793	2011
6	Kleefstra Syndrome ⁶¹ ⁶	Kleefstra T...de Leeuw N	20945554	2010
7	Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome. ⁵⁶	Yatsenko SA...Lupski JR	19293338	2009
8	Three patients with terminal deletions within the subtelomeric region of chromosome 9q. ⁵⁶	Neas KR...Mowat D	15633179	2005
9	Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome. ⁵⁶	Stewart DR...Krantz ID	15264279	2004
10	9q34.3 deletion syndrome in three unrelated children. ⁵⁶	Iwakoshi M...Matsumoto N	15054842	2004
11	A 1-Mb critical region in six patients with 9q34.3 terminal deletion syndrome. ⁵⁶	Harada N...Matsumoto N	15258833	2004
12	KMT2C/D COMPASS complex-associated diseases [KCDCOM-ADs]: an emerging class of congenital regulopathies. ⁶¹	Lavery WJ...Lindsley AW	31924266	2020
13	Distinct Pathogenic Genes Causing Intellectual Disability and Autism Exhibit a Common Neuronal Network Hyperactivity Phenotype. ⁶¹	Frega M...Nadif Kasri N	31914384	2020
14	Otopathology in Kleefstra Syndrome: A Case Report. ⁶¹	Okayasu T...Nadol JB	31750954	2019
15	Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling. ⁶¹	Frega M...Nadif Kasri N	31666522	2019
16	[Kleefstra syndrome 1 and ring chromosome 9 in a case]. ⁶¹	Lyu N...Ma C	31400141	2019
17	9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression. ⁶¹	Bonati MT...Finelli P	31209758	2019
18	Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France. ⁶¹	Hureaux M...Vialard F	30896039	2019
19	Histone 4 Lysine 20 Methylation: A Case for Neurodevelopmental Disease. ⁶¹	Wickramasekara RN...Stessman HAF	30832413	2019
20	Shone's complex in a patient with chromosome 9q34.3 deletion (Kleefstra syndrome). ⁶¹	Kohli U	30585561	2019
21	Fetal valproate syndrome as a phenocopy of Kleefstra syndrome. ⁶¹	Arora V...Chander Verma I	30151876	2018
22	Pulmonary hypertension in patients with 9q34.3 microdeletion-associated Kleefstra syndrome. ⁶¹	Okur V...Krishnan U	30063093	2018
23	Increased H3K9 methylation and impaired expression of Protocadherins are associated with the cognitive dysfunctions of the Kleefstra syndrome. ⁶¹	Iacono G...Stunnenberg HG	29554304	2018
24	Biochemical validation of EHMT1 missense mutations in Kleefstra syndrome. ⁶¹	Yamada A...Shinkai Y	29459631	2018
25	First prenatal diagnosis of a 'pure' 9q34.3 deletion (Kleefstra syndrome): A case report and literature review. ⁶¹	Guterman S...Vialard F	29160022	2018
26	EHMT1 mosaicism in apparently unaffected parents is associated with autism spectrum disorder and neurocognitive dysfunction. ⁶¹	de Boer A...Kleefstra T	29416845	2018
27	New Insights into Kleefstra Syndrome: Report of Two Novel Cases with Previously Unreported Features and Literature Review. ⁶¹	Ciaccio C...Milani D	30448833	2018
28	Hypogonadotropic Hypogonadism and Kleefstra Syndrome due to a Pathogenic Variant in the EHMT1 Gene: An Underrecognized Association. ⁶¹	Torga AP...Quintos JB	30370152	2018
29	Kleefstra Syndrome: The First Case Report From Iran. ⁶¹	Noruzinia M...Salehi Chaleshtori AR	29228531	2017
30	Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder. ⁶¹	Koemans TS...Kramer JM	29069077	2017
31	Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation. ⁶¹	Asadollahi R...Rauch A	28645799	2017
32	Adaptive and maladaptive functioning in Kleefstra syndrome compared to other rare genetic disorders with intellectual disabilities. ⁶¹	Vermeulen K...Kleefstra T	28498556	2017
33	Sleep Disturbance as a Precursor of Severe Regression in Kleefstra Syndrome Suggests a Need for Firm and Rapid Pharmacological Treatment. ⁶¹	Vermeulen K...Kleefstra T	28622207	2017
34	Altered neurite morphology and cholinergic function of induced pluripotent stem cell-derived neurons from a patient with Kleefstra syndrome and autism. ⁶¹	Nagy J...Roman V	28742076	2017
35	Increased first-trimester nuchal translucency associated with a dicentric chromosome and 9q34.3 microdeletion syndrome. ⁶¹	Huang LY...Li DZ	27966372	2017
36	A novel de novo frameshift deletion in EHMT1 in a patient with Kleefstra Syndrome results in decreased H3K9 dimethylation. ⁶¹	Blackburn PR...Klee EW	28361100	2017
37	A de novo splice site mutation in EHMT1 resulting in Kleefstra syndrome with pharmacogenomics screening and behavior therapy for regressive behaviors. ⁶¹	Mitra AK...Van Ness B	28361099	2017
38	A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding. ⁶¹	Blackburn PR...Klee EW	28057753	2017
39	Haploinsufficiency of EHMT1 improves pattern separation and increases hippocampal cell proliferation. ⁶¹	Benevento M...Kasri NN	28071689	2017
40	Targeted next generation sequencing of a panel of autism-related genes identifies an EHMT1 mutation in a Kleefstra syndrome patient with autism and normal intellectual performance. ⁶¹	Bock I...Dinnyes A	27651234	2016
41	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. ⁶¹	Varga E...Dinnyes A	27789404	2016
42	Euchromatin histone methyltransferase 1 regulates cortical neuronal network development. ⁶¹	Martens MB...Nadif Kasri N	27767173	2016
43	Histone Methylation by the Kleefstra Syndrome Protein EHMT1 Mediates Homeostatic Synaptic Scaling. ⁶¹	Benevento M...Nadif Kasri N	27373831	2016
44	Expanding the phenotypic profile of Kleefstra syndrome: A female with low-average intelligence and childhood apraxia of speech. ⁶¹	Samango-Sprouse C...Gropman A	26833960	2016
45	Reversible white matter lesions associated with mutant EHMT1 and Kleefstra syndrome. ⁶¹	He X...Bolduc FV	27123477	2016
46	A structured assessment of motor function and behavior in patients with Kleefstra syndrome. ⁶¹	Schmidt S...Hoxmark LB	26808425	2016
47	Kleefstra syndrome in Hungarian patients: additional symptoms besides the classic phenotype. ⁶¹	Hadzsiev K...Melegh B	26918030	2016
48	Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome. ⁶¹	Vargiami E...Zafeiriou DI	27239352	2016
49	Pregnancy with de novo 9q34.3 microdeletion and Kleefstra syndrome in the fetus may be associated with an abnormal maternal serum screening result. ⁶¹	Chen CP...Wang W	26384070	2015
50	Deep brain stimulation for the obsessive-compulsive and Tourette-like symptoms of Kleefstra syndrome. ⁶¹	Segar DJ...Cosgrove GR	26030700	2015

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Genes for Kleefstra Syndrome 1

Genes related to Kleefstra Syndrome 1 (2 elite genes):

(show all 34)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	EHMT1	Euchromatic Histone Lysine Methyltransferase 1	Protein Coding	1254.9	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Role in the phenotype ⁵⁸ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	19264732 20945554 16826528
2	PAEP	Progestagen Associated Endometrial Protein	Protein Coding	407.3	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)	20945554
3	NR1I3	Nuclear Receptor Subfamily 1 Group I Member 3	Protein Coding	12.31	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
4	H2AC18	H2A Clustered Histone 18	Protein Coding	8.35	DISEASES inferred ¹⁵ ¹⁵
5	KDM4C	Lysine Demethylase 4C	Protein Coding	7.68	DISEASES inferred ¹⁵ ¹⁵
6	MBD5	Methyl-CpG Binding Domain Protein 5	Protein Coding	7.36	DISEASES inferred ¹⁵
7	EHMT2	Euchromatic Histone Lysine Methyltransferase 2	Protein Coding	7.08	DISEASES inferred ¹⁵
8	KMT2D	Lysine Methyltransferase 2D	Protein Coding	6.41	DISEASES inferred ¹⁵
9	KMT2C	Lysine Methyltransferase 2C	Protein Coding	6.14	DISEASES inferred ¹⁵
10	RAI1	Retinoic Acid Induced 1	Protein Coding	6.1	DISEASES inferred ¹⁵
11	H3-2	H3.2 Histone (Putative)	Protein Coding	5.96	DISEASES inferred ¹⁵
12	KDM5C	Lysine Demethylase 5C	Protein Coding	5.9	DISEASES inferred ¹⁵
13	UBE3A	Ubiquitin Protein Ligase E3A	Protein Coding	5.89	DISEASES inferred ¹⁵
14	PCDHB1	Protocadherin Beta 1	Protein Coding	5.78	DISEASES inferred ¹⁵
15	MECP2	Methyl-CpG Binding Protein 2	Protein Coding	5.72	DISEASES inferred ¹⁵
16	SLC9A7	Solute Carrier Family 9 Member A7	Protein Coding	5.67	DISEASES inferred ¹⁵
17	KDM6A	Lysine Demethylase 6A	Protein Coding	5.66	DISEASES inferred ¹⁵
18	WIZ	WIZ Zinc Finger	Protein Coding	5.66	DISEASES inferred ¹⁵
19	CDKL5	Cyclin Dependent Kinase Like 5	Protein Coding	5.64	DISEASES inferred ¹⁵
20	LIN7B	Lin-7 Homolog B, Crumbs Cell Polarity Complex Component	Protein Coding	5.57	DISEASES inferred ¹⁵
21	KMT2B	Lysine Methyltransferase 2B	Protein Coding	5.56	DISEASES inferred ¹⁵
22	ZNF589	Zinc Finger Protein 589	Protein Coding	5.56	DISEASES inferred ¹⁵
23	ASH2L	ASH2 Like, Histone Lysine Methyltransferase Complex Subunit	Protein Coding	5.56	DISEASES inferred ¹⁵
24	BSPRY	B-Box And SPRY Domain Containing	Protein Coding	5.56	DISEASES inferred ¹⁵
25	NSD1	Nuclear Receptor Binding SET Domain Protein 1	Protein Coding	5.54	DISEASES inferred ¹⁵
26	KANSL1	KAT8 Regulatory NSL Complex Subunit 1	Protein Coding	5.52	DISEASES inferred ¹⁵
27	CACNA1B	Calcium Voltage-Gated Channel Subunit Alpha1 B	Protein Coding	5.51	DISEASES inferred ¹⁵
28	WDR5	WD Repeat Domain 5	Protein Coding	5.49	DISEASES inferred ¹⁵
29	SETDB1	SET Domain Bifurcated Histone Lysine Methyltransferase 1	Protein Coding	5.44	DISEASES inferred ¹⁵
30	SLC9A6	Solute Carrier Family 9 Member A6	Protein Coding	5.41	DISEASES inferred ¹⁵
31	HDAC4	Histone Deacetylase 4	Protein Coding	5.36	DISEASES inferred ¹⁵
32	RBBP5	RB Binding Protein 5, Histone Lysine Methyltransferase Complex Subunit	Protein Coding	5.3	DISEASES inferred ¹⁵
33	SMARCB1	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1	Protein Coding	5.29	DISEASES inferred ¹⁵
34	MROH7	Maestro Heat Like Repeat Family Member 7	Protein Coding	5.27	DISEASES inferred ¹⁵

Sources

Variations for Kleefstra Syndrome 1

ClinVar genetic disease variations for Kleefstra Syndrome 1:

⁶ (show top 50) (show all 268) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	EHMT1	NM_024757.5(EHMT1):c.391del (p.Ala131fs)	deletion	Pathogenic	209152	rs797045043	9:140611382-140611382	9:137716930-137716930
2	EHMT1	NM_024757.5(EHMT1):c.3413G>A (p.Trp1138Ter)	SNV	Pathogenic	221980	rs886037776	9:140711929-140711929	9:137817477-137817477
3	EHMT1	NM_024757.5(EHMT1):c.1413_1425del (p.Pro473fs)	deletion	Pathogenic	3606	rs137852715	9:140652371-140652383	9:137757919-137757931
4	EHMT1	NM_024757.5(EHMT1):c.3218G>A (p.Cys1073Tyr)	SNV	Pathogenic	3607	rs137852726	9:140708920-140708920	9:137814468-137814468
5	EHMT1	NM_024757.5(EHMT1):c.871C>T (p.Arg291Ter)	SNV	Pathogenic	3608	rs137852714	9:140637870-140637870	9:137743418-137743418
6	EHMT1	NM_024757.5(EHMT1):c.3502C>T (p.Arg1168Ter)	SNV	Pathogenic	3605	rs121918301	9:140712552-140712552	9:137818100-137818100
7	EHMT1	NM_024757.5(EHMT1):c.3181-80_3233del	deletion	Pathogenic	41267	rs1554896943	9:140708803-140708935	9:137814351-137814483
8	EHMT1	NM_024757.5(EHMT1):c.1529_1532AGAC[1] (p.Asp512fs)	short repeat	Pathogenic	65726	rs137852716	9:140657154-140657157	9:137762702-137762705
9	EHMT1	NM_024757.5(EHMT1):c.1810C>T (p.Gln604Ter)	SNV	Pathogenic	65728	rs137852717	9:140671088-140671088	9:137776636-137776636
10	EHMT1	NM_024757.5(EHMT1):c.1858C>T (p.Arg620Ter)	SNV	Pathogenic	65729	rs137852718	9:140671136-140671136	9:137776684-137776684
11	EHMT1	NM_024757.5(EHMT1):c.2028dup (p.Pro677fs)	duplication	Pathogenic	65730	rs1554879411	9:140672340-140672341	9:137777888-137777889
12	EHMT1	NM_024757.5(EHMT1):c.2193-1G>C	SNV	Pathogenic	65731	rs137852720	9:140674086-140674086	9:137779634-137779634
13	EHMT1	NM_024757.5(EHMT1):c.2861_2862GT[1] (p.Val955fs)	short repeat	Pathogenic	65732	rs137852721	9:140706060-140706061	9:137811608-137811609
14	EHMT1	NM_024757.5(EHMT1):c.2873_2876TTCT[1] (p.Ser960fs)	short repeat	Pathogenic	65734	rs786205129	9:140707460-140707463	9:137813008-137813011
15	EHMT1	NM_024757.5(EHMT1):c.3180+1G>T	SNV	Pathogenic	65735	rs137852724	9:140707983-140707983	9:137813531-137813531
16	EHMT1	NM_024757.5(EHMT1):c.3229C>T (p.Gln1077Ter)	SNV	Pathogenic	65736	rs137852725	9:140708931-140708931	9:137814479-137814479
17	EHMT1	NM_024757.5(EHMT1):c.2868-1G>A	SNV	Pathogenic	65733	rs137852722	9:140707457-140707457	9:137813005-137813005
18	EHMT1	NM_024757.5(EHMT1):c.1434_1435del (p.Tyr479fs)	deletion	Pathogenic	431703	rs1554867189	9:140652396-140652397	9:137757944-137757945
19	EHMT1	NM_024757.5(EHMT1):c.2214_2230dup (p.Phe744fs)	duplication	Pathogenic	438289	rs1554880275	9:140674107-140674108	9:137779655-137779656
20	EHMT1	NM_024757.5(EHMT1):c.2224del (p.Leu742fs)	deletion	Pathogenic	560999	rs1564744631	9:140674118-140674118	9:137779666-137779666
21	EHMT1	NM_024757.5(EHMT1):c.3046C>T (p.Arg1016Ter)	SNV	Pathogenic	566937	rs1429360126	9:140707848-140707848	9:137813396-137813396
22	EHMT1	NM_024757.5(EHMT1):c.1495del (p.Ala499fs)	deletion	Pathogenic	620057	rs1564704457	9:140652457-140652457	9:137758005-137758005
23	EHMT1	NC_000009.11:g.(?_140605399)_(140652483_?)dup	duplication	Pathogenic	662276		9:140605399-140652483	9:137710947-137758031
24	EHMT1	NM_024757.5(EHMT1):c.2566C>T (p.Gln856Ter)	SNV	Pathogenic	666593		9:140693325-140693325	9:137798873-137798873
25	PAEP	NM_002571.4(PAEP):c.311-444_*248del	deletion	Pathogenic	666598		9:138455646-138458646	9:135563800-135566800
26	EHMT1	NM_024757.5(EHMT1):c.3443del (p.Pro1148fs)	deletion	Pathogenic	694702		9:140711958-140711958	9:137817506-137817506
27	EHMT1	NM_024757.5(EHMT1):c.2976del (p.Ser992fs)	deletion	Pathogenic	802552		9:140707566-140707566	9:137813114-137813114
28	EHMT1	NM_024757.5(EHMT1):c.3709C>T (p.Gln1237Ter)	SNV	Pathogenic	802554		9:140728969-140728969	9:137834517-137834517
29	EHMT1	NM_024757.5(EHMT1):c.1647+2T>C	SNV	Pathogenic/Likely pathogenic	374120	rs1057518913	9:140657274-140657274	9:137762822-137762822
30	EHMT1	NM_024757.5(EHMT1):c.673C>T (p.Arg225Ter)	SNV	Pathogenic/Likely pathogenic	252987	rs879255531	9:140622831-140622831	9:137728379-137728379
31	EHMT1	NM_024757.5(EHMT1):c.3310G>A (p.Glu1104Lys)	SNV	Likely pathogenic	268206	rs886041093	9:140710450-140710450	9:137815998-137815998
32	EHMT1	NM_024757.5(EHMT1):c.3589C>T (p.Arg1197Trp)	SNV	Likely pathogenic	65737	rs137852727	9:140728849-140728849	9:137834397-137834397
33	EHMT1	NM_024757.5(EHMT1):c.3583_3594del (p.Val1195_Phe1198del)	deletion	Likely pathogenic	435046	rs1554908290	9:140728842-140728853	9:137834390-137834401
34	EHMT1	NM_024757.5(EHMT1):c.2516G>T (p.Gly839Val)	SNV	Likely pathogenic	522804	rs1554888939	9:140693275-140693275	9:137798823-137798823
35	EHMT1	NM_024757.5(EHMT1):c.1042_1043dup (p.Asp349fs)	duplication	Likely pathogenic	666585		9:140638412-140638413	9:137743960-137743961
36	EHMT1	NM_024757.5(EHMT1):c.3252C>G (p.Tyr1084Ter)	SNV	Likely pathogenic	802553		9:140708954-140708954	9:137814502-137814502
37	EHMT1	NM_024757.5(EHMT1):c.13_21+153del	deletion	Likely pathogenic	573983	rs1564509503	9:140513484-140513645	9:137619032-137619193
38	EHMT1	NM_024757.5(EHMT1):c.1249-2A>G	SNV	Likely pathogenic	619987	rs1564697048	9:140648621-140648621	9:137754169-137754169
39	EHMT1	NM_024757.5(EHMT1):c.23C>T (p.Ala8Val)	SNV	Conflicting interpretations of pathogenicity	531856	rs375391530	9:140605420-140605420	9:137710968-137710968
40	EHMT1	NM_024757.5(EHMT1):c.499G>A (p.Ala167Thr)	SNV	Conflicting interpretations of pathogenicity	531857	rs141282876	9:140611491-140611491	9:137717039-137717039
41	EHMT1	NM_024757.5(EHMT1):c.2026G>A (p.Gly676Arg)	SNV	Conflicting interpretations of pathogenicity	599476	rs757416132	9:140672341-140672341	9:137777889-137777889
42	EHMT1	NM_024757.5(EHMT1):c.1814C>T (p.Pro605Leu)	SNV	Conflicting interpretations of pathogenicity	567822	rs373640528	9:140671092-140671092	9:137776640-137776640
43	EHMT1	NM_024757.5(EHMT1):c.3355G>A (p.Val1119Ile)	SNV	Conflicting interpretations of pathogenicity	567063	rs139394414	9:140710495-140710495	9:137816043-137816043
44	EHMT1	NM_024757.5(EHMT1):c.1655G>A (p.Arg552Gln)	SNV	Conflicting interpretations of pathogenicity	462980	rs747623277	9:140669568-140669568	9:137775116-137775116
45	EHMT1	NM_024757.5(EHMT1):c.1433G>A (p.Gly478Glu)	SNV	Conflicting interpretations of pathogenicity	462979	rs376787713	9:140652395-140652395	9:137757943-137757943
46	EHMT1	NM_024757.5(EHMT1):c.3894A>G (p.Leu1298=)	SNV	Conflicting interpretations of pathogenicity	366036	rs886063743	9:140729402-140729402	9:137834950-137834950
47	EHMT1	NM_024757.5(EHMT1):c.1402G>A (p.Ala468Thr)	SNV	Conflicting interpretations of pathogenicity	366009	rs202097707	9:140652364-140652364	9:137757912-137757912
48	EHMT1	NM_024757.5(EHMT1):c.3377C>T (p.Ala1126Val)	SNV	Conflicting interpretations of pathogenicity	366029	rs560251933	9:140711893-140711893	9:137817441-137817441
49	EHMT1	NM_024757.5(EHMT1):c.153C>T (p.Asp51=)	SNV	Conflicting interpretations of pathogenicity	365991	rs765396242	9:140611145-140611145	9:137716693-137716693
50	EHMT1	NM_024757.5(EHMT1):c.2142A>G (p.Gly714=)	SNV	Conflicting interpretations of pathogenicity	366013	rs758845539	9:140672457-140672457	9:137778005-137778005

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

⁷³

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

Sources

Expression for Kleefstra Syndrome 1

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

Sources

Pathways for Kleefstra Syndrome 1

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

#	Super pathways	Score	Top Affiliating Genes
1	Chromatin organization ⁶⁵ Show member pathways Chromatin modifying enzymes ⁶⁵ HATs acetylate histones ⁶⁵	12.07	KMT2D KMT2C KDM6A KDM5C KDM4C H2AC18
2	Chromatin Regulation / Acetylation ⁴	11.96	MECP2 KDM6A KDM5C EHMT2
3	PKMTs methylate histone lysines ⁶⁵ Show member pathways Histone Modifications ¹	11.61	KMT2D KMT2C EHMT2 EHMT1
4	Lysine degradation ³⁶	11.04	KMT2D KMT2C EHMT2 EHMT1

Sources

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	nucleus	GO:0005634	10.16	WIZ UBE3A RAI1 NR1I3 MECP2 MBD5
2	nucleoplasm	GO:0005654	9.97	WIZ RAI1 NR1I3 MECP2 MBD5 KMT2D
3	chromosome	GO:0005694	9.72	MBD5 H3-2 H2AC18 EHMT2 EHMT1
4	MLL3/4 complex	GO:0044666	9.13	KMT2D KMT2C KDM6A
5	histone methyltransferase complex	GO:0035097	9.02	KMT2D KMT2C KDM6A KDM5C KDM4C

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

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	methylation	GO:0032259	9.73	KMT2D KMT2C EHMT2 EHMT1
2	chromatin remodeling	GO:0006338	9.65	KDM6A KDM5C KDM4C
3	chromatin silencing	GO:0006342	9.49	MECP2 KMT2D
4	histone H3-K9 methylation	GO:0051567	9.46	EHMT2 EHMT1
5	histone H3-K4 methylation	GO:0051568	9.43	KMT2D KMT2C KDM6A
6	peptidyl-lysine dimethylation	GO:0018027	9.4	EHMT2 EHMT1
7	response to fungicide	GO:0060992	9.37	EHMT2 EHMT1
8	histone methylation	GO:0016571	9.33	MECP2 EHMT2 EHMT1
9	histone H3-K27 methylation	GO:0070734	9.32	EHMT2 EHMT1
10	histone lysine methylation	GO:0034968	9.26	KMT2D KMT2C EHMT2 EHMT1
11	chromatin organization	GO:0006325	9.23	KMT2D KMT2C KDM6A KDM5C KDM4C H2AC18

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	10.06	WIZ UBE3A RAI1 NR1I3 KMT2D KMT2C
2	transcription coactivator activity	GO:0003713	9.73	UBE3A NR1I3 KMT2D KMT2C
3	dioxygenase activity	GO:0051213	9.54	KDM6A KDM5C KDM4C
4	histone methyltransferase activity (H3-K4 specific)	GO:0042800	9.48	KMT2D KMT2C
5	histone demethylase activity	GO:0032452	9.46	KDM5C KDM4C
6	methyltransferase activity	GO:0008168	9.46	KMT2D KMT2C EHMT2 EHMT1
7	C2H2 zinc finger domain binding	GO:0070742	9.4	EHMT2 EHMT1
8	histone methyltransferase activity (H3-K9 specific)	GO:0046974	9.26	EHMT2 EHMT1
9	histone methyltransferase activity (H3-K27 specific)	GO:0046976	8.96	EHMT2 EHMT1
10	histone-lysine N-methyltransferase activity	GO:0018024	8.92	KMT2D KMT2C EHMT2 EHMT1

Sources

Sources for Kleefstra Syndrome 1

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Kleefstra Syndrome 1 (KLEFS1)

Aliases & Classifications for Kleefstra Syndrome 1

MalaCards integrated aliases for Kleefstra Syndrome 1:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Kleefstra Syndrome 1

Related Diseases for Kleefstra Syndrome 1

Diseases in the Kleefstra Syndrome family:

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

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

Symptoms & Phenotypes for Kleefstra Syndrome 1

Human phenotypes related to Kleefstra Syndrome 1:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Kleefstra Syndrome 1:

MGI Mouse Phenotypes related to Kleefstra Syndrome 1:

Drugs & Therapeutics for Kleefstra Syndrome 1

Cochrane evidence based reviews: kleefstra syndrome

Genetic Tests for Kleefstra Syndrome 1

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MalaCards organs/tissues related to Kleefstra Syndrome 1:

Publications for Kleefstra Syndrome 1

Articles related to Kleefstra Syndrome 1:

Genes for Kleefstra Syndrome 1

Genes related to Kleefstra Syndrome 1 (2 elite genes):

Variations for Kleefstra Syndrome 1

ClinVar genetic disease variations for Kleefstra Syndrome 1:

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

Expression for Kleefstra Syndrome 1

Pathways for Kleefstra Syndrome 1

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

GO Terms for Kleefstra Syndrome 1

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

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

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

Sources for Kleefstra Syndrome 1