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

KLEFS1 MCID: KLF004 MIFTS: 33	Kleefstra Syndrome 1 (KLEFS1) Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Oral diseases, Rare diseases
Genes Variations Tissues Related diseases Publications 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 ⁵⁸ ⁷⁶

Chromosome 9q34.3 Deletion Syndrome ⁵⁸ ⁷⁶

9q Subtelomeric Deletion Syndrome ⁵⁸ ⁶⁰

Kleefstra Syndrome ⁶⁰ ⁷⁴

9q- Syndrome ⁵⁸ ⁷⁶

Klefs1 ⁵⁸ ⁷⁶

Kleefstra Syndrome Due to 9q Subtelomeric Deletion ⁶⁰

Kleefstra Syndrome Due to 9q34 Microdeletion ⁶⁰

Chromosome 9q Subtelomeric Deletion Syndrome ⁷⁶

Kleefstra Syndrome Due to Monosomy 9q34 ⁶⁰

Kleefstra Syndrome Due to Del(9)(q34) ⁶⁰

9qstds ⁶⁰

Characteristics:

Orphanet epidemiological data:

⁶⁰

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:

⁵⁸

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:

³³

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 Oral diseases

See all MalaCards categories (disease lists)

ICD10: ³⁵

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: ⁶⁰

Rare neurological diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁸ 610253

MeSH ⁴⁵ D006330 D008607 D019465

ICD10 via Orphanet ³⁵ Q87.8

UMLS via Orphanet ⁷⁵ C0795833

Orphanet ⁶⁰ ORPHA261494 ORPHA96147

MedGen ⁴³ C0795833

SNOMED-CT via HPO ⁷⁰ 103276001 109504005 12479006 more

UMLS ⁷⁴ C0795833

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Summaries for Kleefstra Syndrome 1

OMIM : ⁵⁸ 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 chromosome 9q34.3 deletion syndrome, is related to kleefstra syndrome due to a point mutation and kleefstra syndrome, and has symptoms including seizures An important gene associated with Kleefstra Syndrome 1 is EHMT1 (Euchromatic Histone Lysine Methyltransferase 1). Affiliated tissues include heart, tongue and testis, and related phenotypes are hypertelorism and intellectual disability

UniProtKB/Swiss-Prot : ⁷⁶ 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.

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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 all 19)

#	Related Disease	Score
1	kleefstra syndrome due to a point mutation	12.1
2	kleefstra syndrome	11.4
3	kleefstra syndrome 2	11.1
4	autism	10.2
5	exophthalmos	10.2
6	hypopituitarism	10.2
7	chromosomal triplication	10.0
8	chromosome 9q duplication	10.0
9	hypoplastic left heart syndrome 1	10.0
10	valproate embryopathy	10.0
11	pulmonary hypertension	10.0
12	hypoplastic left heart syndrome	10.0
13	apraxia	10.0
14	hypogonadotropic hypogonadism	10.0
15	hypogonadism	10.0
16	hypogonadotropism	10.0
17	childhood apraxia of speech	10.0
18	hypotonia	10.0
19	xq12-q13.3 duplication syndrome	9.9

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:

⁶⁰ ³³ (show top 50) (show all 111)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	hypertelorism ⁶⁰ ³³	frequent (33%)	Very frequent (99-80%),Very frequent (99-80%)	HP:0000316
2	intellectual disability ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0001249
3	muscular hypotonia ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%),Very frequent (99-80%)	HP:0001252
4	dysphasia ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0002357
5	global developmental delay ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%),Very frequent (99-80%)	HP:0001263
6	short nose ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%),Very frequent (99-80%)	HP:0003196
7	anteverted nares ⁶⁰ ³³	frequent (33%)	Very frequent (99-80%),Very frequent (99-80%)	HP:0000463
8	brachycephaly ⁶⁰ ³³	frequent (33%)	Frequent (79-30%),Very frequent (99-80%)	HP:0000248
9	everted lower lip vermilion ⁶⁰ ³³	frequent (33%)	Very frequent (99-80%),Very frequent (99-80%)	HP:0000232
10	specific learning disability ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0001328
11	aphasia ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0002381
12	flat occiput ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0005469
13	highly arched eyebrow ⁶⁰ ³³	hallmark (90%)	Frequent (79-30%),Very frequent (99-80%)	HP:0002553
14	echolalia ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0010529
15	mutism ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0002300
16	malar flattening ⁶⁰ ³³	frequent (33%)	Very frequent (99-80%)	HP:0000272
17	obesity ⁶⁰ ³³	frequent (33%)	Frequent (79-30%),Frequent (79-30%)	HP:0001513
18	sleep disturbance ⁶⁰ ³³	frequent (33%)	Frequent (79-30%),Occasional (29-5%)	HP:0002360
19	macroglossia ⁶⁰ ³³	frequent (33%)	Frequent (79-30%),Frequent (79-30%)	HP:0000158
20	coarse facial features ⁶⁰ ³³	frequent (33%)	Very frequent (99-80%)	HP:0000280
21	mandibular prognathia ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000303
22	recurrent respiratory infections ⁶⁰ ³³	frequent (33%)	Occasional (29-5%)	HP:0002205
23	delayed speech and language development ⁶⁰ ³³	frequent (33%)	Very frequent (99-80%)	HP:0000750
24	microcephaly ⁶⁰ ³³	very rare (1%)	Frequent (79-30%),Frequent (79-30%)	HP:0000252
25	stereotypy ⁶⁰ ³³	frequent (33%)	Occasional (29-5%)	HP:0000733
26	cryptorchidism ⁶⁰ ³³	frequent (33%)	Occasional (29-5%),Frequent (79-30%)	HP:0000028
27	autism ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000717
28	hypospadias ⁶⁰ ³³	frequent (33%)	Occasional (29-5%)	HP:0000047
29	aggressive behavior ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000718
30	status epilepticus ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002133
31	upslanted palpebral fissure ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000582
32	downturned corners of mouth ⁶⁰ ³³	frequent (33%)	Occasional (29-5%),Frequent (79-30%)	HP:0002714
33	protruding tongue ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0010808
34	midface retrusion ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0011800
35	synophrys ⁶⁰ ³³	frequent (33%)	Frequent (79-30%),Frequent (79-30%)	HP:0000664
36	micropenis ⁶⁰ ³³	frequent (33%)	Occasional (29-5%)	HP:0000054
37	epileptic spasms ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0011097
38	abnormality of the pinna ³³	frequent (33%)		HP:0000377
39	u-shaped upper lip vermilion ³³	frequent (33%)		HP:0010806
40	abnormal cardiac septum morphology ³³	frequent (33%)		HP:0001671
41	absence seizure ³³	frequent (33%)		HP:0002121
42	agenesis of corpus callosum ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%),Occasional (29-5%)	HP:0001274
43	depressivity ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000716
44	failure to thrive ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0001508
45	inguinal hernia ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000023
46	hearing impairment ⁶⁰ ³³	very rare (1%)	Frequent (79-30%),Occasional (29-5%)	HP:0000365
47	gastroesophageal reflux ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0002020
48	renal insufficiency ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%),Occasional (29-5%)	HP:0000083
49	irritability ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000737
50	feeding difficulties ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0011968

Symptoms via clinical synopsis from OMIM:

⁵⁸

Head And Neck Eyes:
hypertelorism
synophrys
upslanting palpebral fissures

Neurologic Central Nervous System:
seizures
hypotonia
mental retardation, severe

Head And Neck Head:
microcephaly
brachycephaly

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

Skeletal Hands:
brachydactyly
single transverse palmar creases

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 Nose:
anteverted nares

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

Skin Nails Hair Hair:
synophrys

Cardiovascular Heart:
conotruncal heart defects

Clinical features from OMIM:

610253

UMLS symptoms related to Kleefstra Syndrome 1:

seizures

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Drugs & Therapeutics for Kleefstra Syndrome 1

Search Clinical Trials , NIH Clinical Center for Kleefstra Syndrome 1

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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:

⁴²

Heart, Tongue, Testis

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Publications for Kleefstra Syndrome 1

Articles related to Kleefstra Syndrome 1:

#	Title	Authors	Year
1	Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype. ( 19264732 )	Kleefstra T....Brunner H.G.	2009
2	A cryptic unbalanced translocation t(2;9)(p25.2;q34.3) causes the phenotype of 9q subtelomeric deletion syndrome and additional exophthalmos and joint contractures. ( 18674647 )	Busche A....Horn D.	2008

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Genes for Kleefstra Syndrome 1

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

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	EHMT1	Euchromatic Histone Lysine Methyltransferase 1	Protein Coding	1251.81	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Role in the phenotype ⁶⁰ GeneCards inferred via : Disorders Variants (show sections)

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Variations for Kleefstra Syndrome 1

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

⁷⁶

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

ClinVar genetic disease variations for Kleefstra Syndrome 1:

⁶ (show top 50) (show all 492)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	EHMT1	NM_024757.4(EHMT1): c.480C> T (p.Gly160=)	single nucleotide variant	Benign/Likely benign	rs150135875	GRCh37	Chromosome 9, 140611472: 140611472
2	EHMT1	NM_024757.4(EHMT1): c.480C> T (p.Gly160=)	single nucleotide variant	Benign/Likely benign	rs150135875	GRCh38	Chromosome 9, 137717020: 137717020
3	EHMT1	NM_024757.4(EHMT1): c.2040G> A (p.Ser680=)	single nucleotide variant	Benign	rs150451099	GRCh37	Chromosome 9, 140672355: 140672355
4	EHMT1	NM_024757.4(EHMT1): c.2040G> A (p.Ser680=)	single nucleotide variant	Benign	rs150451099	GRCh38	Chromosome 9, 137777903: 137777903
5	EHMT1	NM_024757.4(EHMT1): c.2595C> T (p.Asp865=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs780742937	GRCh37	Chromosome 9, 140693354: 140693354
6	EHMT1	NM_024757.4(EHMT1): c.2595C> T (p.Asp865=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs780742937	GRCh38	Chromosome 9, 137798902: 137798902
7	EHMT1	NM_024757.4(EHMT1): c.2695A> G (p.Ile899Val)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs144085805	GRCh37	Chromosome 9, 140695419: 140695419
8	EHMT1	NM_024757.4(EHMT1): c.2695A> G (p.Ile899Val)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs144085805	GRCh38	Chromosome 9, 137800967: 137800967
9	EHMT1	NM_024757.4(EHMT1): c.70G> A (p.Glu24Lys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs373269573	GRCh37	Chromosome 9, 140605467: 140605467
10	EHMT1	NM_024757.4(EHMT1): c.70G> A (p.Glu24Lys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs373269573	GRCh38	Chromosome 9, 137711015: 137711015
11	EHMT1	NM_024757.4(EHMT1): c.35G> C (p.Arg12Thr)	single nucleotide variant	Uncertain significance	rs777999570	GRCh37	Chromosome 9, 140605432: 140605432
12	EHMT1	NM_024757.4(EHMT1): c.35G> C (p.Arg12Thr)	single nucleotide variant	Uncertain significance	rs777999570	GRCh38	Chromosome 9, 137710980: 137710980
13	EHMT1	NM_024757.4(EHMT1): c.3011G> A (p.Ser1004Asn)	single nucleotide variant	Benign/Likely benign	rs138283222	GRCh37	Chromosome 9, 140707601: 140707601
14	EHMT1	NM_024757.4(EHMT1): c.3011G> A (p.Ser1004Asn)	single nucleotide variant	Benign/Likely benign	rs138283222	GRCh38	Chromosome 9, 137813149: 137813149
15	EHMT1	NM_024757.4(EHMT1): c.581C> T (p.Pro194Leu)	single nucleotide variant	Benign/Likely benign	rs35570782	GRCh37	Chromosome 9, 140611573: 140611573
16	EHMT1	NM_024757.4(EHMT1): c.581C> T (p.Pro194Leu)	single nucleotide variant	Benign/Likely benign	rs35570782	GRCh38	Chromosome 9, 137717121: 137717121
17	EHMT1	NM_024757.4(EHMT1): c.183C> T (p.Ser61=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs774448433	GRCh37	Chromosome 9, 140611175: 140611175
18	EHMT1	NM_024757.4(EHMT1): c.183C> T (p.Ser61=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs774448433	GRCh38	Chromosome 9, 137716723: 137716723
19	EHMT1	NM_024757.4(EHMT1): c.298G> A (p.Asp100Asn)	single nucleotide variant	Uncertain significance	rs540121859	GRCh37	Chromosome 9, 140611290: 140611290
20	EHMT1	NM_024757.4(EHMT1): c.298G> A (p.Asp100Asn)	single nucleotide variant	Uncertain significance	rs540121859	GRCh38	Chromosome 9, 137716838: 137716838
21	EHMT1	NM_024757.4(EHMT1): c.737G> A (p.Arg246Gln)	single nucleotide variant	Likely benign	rs144871446	GRCh37	Chromosome 9, 140622895: 140622895
22	EHMT1	NM_024757.4(EHMT1): c.737G> A (p.Arg246Gln)	single nucleotide variant	Likely benign	rs144871446	GRCh38	Chromosome 9, 137728443: 137728443
23	EHMT1	NM_024757.4(EHMT1): c.391delG (p.Ala131Profs)	deletion	Pathogenic	rs797045043	GRCh37	Chromosome 9, 140611383: 140611383
24	EHMT1	NM_024757.4(EHMT1): c.391delG (p.Ala131Profs)	deletion	Pathogenic	rs797045043	GRCh38	Chromosome 9, 137716931: 137716931
25	EHMT1	NM_024757.4(EHMT1): c.159G> T (p.Glu53Asp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs202066668	GRCh37	Chromosome 9, 140611151: 140611151
26	EHMT1	NM_024757.4(EHMT1): c.159G> T (p.Glu53Asp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs202066668	GRCh38	Chromosome 9, 137716699: 137716699
27	EHMT1	NM_024757.4(EHMT1): c.576G> A (p.Pro192=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs574514175	GRCh37	Chromosome 9, 140611568: 140611568
28	EHMT1	NM_024757.4(EHMT1): c.576G> A (p.Pro192=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs574514175	GRCh38	Chromosome 9, 137717116: 137717116
29	EHMT1	NM_024757.4(EHMT1): c.905A> G (p.Lys302Arg)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs565065320	GRCh37	Chromosome 9, 140637904: 140637904
30	EHMT1	NM_024757.4(EHMT1): c.905A> G (p.Lys302Arg)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs565065320	GRCh38	Chromosome 9, 137743452: 137743452
31	EHMT1	NM_024757.4(EHMT1): c.1950C> T (p.Thr650=)	single nucleotide variant	Benign/Likely benign	rs199839806	GRCh37	Chromosome 9, 140671228: 140671228
32	EHMT1	NM_024757.4(EHMT1): c.1950C> T (p.Thr650=)	single nucleotide variant	Benign/Likely benign	rs199839806	GRCh38	Chromosome 9, 137776776: 137776776
33	EHMT1	NM_024757.4(EHMT1): c.3028G> A (p.Val1010Met)	single nucleotide variant	Benign/Likely benign	rs200237137	GRCh37	Chromosome 9, 140707618: 140707618
34	EHMT1	NM_024757.4(EHMT1): c.3028G> A (p.Val1010Met)	single nucleotide variant	Benign/Likely benign	rs200237137	GRCh38	Chromosome 9, 137813166: 137813166
35	EHMT1	NM_024757.4(EHMT1): c.3502C> T (p.Arg1168Ter)	single nucleotide variant	Pathogenic	rs121918301	GRCh37	Chromosome 9, 140712552: 140712552
36	EHMT1	NM_024757.4(EHMT1): c.3502C> T (p.Arg1168Ter)	single nucleotide variant	Pathogenic	rs121918301	GRCh38	Chromosome 9, 137818100: 137818100
37	EHMT1	NM_024757.4(EHMT1): c.1413_1425delGGCACCAGGAGAC (p.Pro473Glnfs)	deletion	Pathogenic	rs137852715	GRCh37	Chromosome 9, 140652375: 140652387
38	EHMT1	NM_024757.4(EHMT1): c.1413_1425delGGCACCAGGAGAC (p.Pro473Glnfs)	deletion	Pathogenic	rs137852715	GRCh38	Chromosome 9, 137757923: 137757935
39	EHMT1	NM_024757.4(EHMT1): c.3218G> A (p.Cys1073Tyr)	single nucleotide variant	Pathogenic	rs137852726	GRCh37	Chromosome 9, 140708920: 140708920
40	EHMT1	NM_024757.4(EHMT1): c.3218G> A (p.Cys1073Tyr)	single nucleotide variant	Pathogenic	rs137852726	GRCh38	Chromosome 9, 137814468: 137814468
41	EHMT1	NM_024757.4(EHMT1): c.871C> T (p.Arg291Ter)	single nucleotide variant	Pathogenic	rs137852714	GRCh37	Chromosome 9, 140637870: 140637870
42	EHMT1	NM_024757.4(EHMT1): c.871C> T (p.Arg291Ter)	single nucleotide variant	Pathogenic	rs137852714	GRCh38	Chromosome 9, 137743418: 137743418
43	EHMT1	NM_024757.4(EHMT1): c.3181-80_3233del	deletion	Pathogenic	rs1554896943	GRCh37	Chromosome 9, 140708803: 140708935
44	EHMT1	NM_024757.4(EHMT1): c.3181-80_3233del	deletion	Pathogenic	rs1554896943	GRCh38	Chromosome 9, 137814351: 137814483
45	EHMT1	NM_024757.4(EHMT1): c.1044G> A (p.Ser348=)	single nucleotide variant	Benign	rs1129767	GRCh37	Chromosome 9, 140638416: 140638416
46	EHMT1	NM_024757.4(EHMT1): c.1044G> A (p.Ser348=)	single nucleotide variant	Benign	rs1129767	GRCh38	Chromosome 9, 137743964: 137743964
47	EHMT1	NM_024757.4(EHMT1): c.1089T> C (p.Gly363=)	single nucleotide variant	Benign	rs1129768	GRCh37	Chromosome 9, 140638461: 140638461
48	EHMT1	NM_024757.4(EHMT1): c.1089T> C (p.Gly363=)	single nucleotide variant	Benign	rs1129768	GRCh38	Chromosome 9, 137744009: 137744009
49	EHMT1	NM_024757.4(EHMT1): c.1368C> T (p.Leu456=)	single nucleotide variant	Benign	rs45450992	GRCh37	Chromosome 9, 140648742: 140648742
50	EHMT1	NM_024757.4(EHMT1): c.1368C> T (p.Leu456=)	single nucleotide variant	Benign	rs45450992	GRCh38	Chromosome 9, 137754290: 137754290

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Expression for Kleefstra Syndrome 1

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

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Pathways for Kleefstra Syndrome 1

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GO Terms for Kleefstra Syndrome 1

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Sources for Kleefstra Syndrome 1

¹ BioSystems

² BitterDB

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¹⁰ dbSNP

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²¹ GeneAnalytics

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²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

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³¹ HGMD

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³⁴ ICD10

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³⁷ IUPHAR

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⁴⁰ LncRNADisease

⁴¹ LOVD

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⁴³ MedGen

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⁴⁵ MeSH

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⁴⁹ NCBI Bookshelf

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⁵¹ NCIt

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⁵³ NIH Clinical Center

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⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

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⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ 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:

Drugs & Therapeutics for Kleefstra Syndrome 1

Genetic Tests for Kleefstra Syndrome 1

Anatomical Context for Kleefstra Syndrome 1

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 (1 elite genes):

Variations for Kleefstra Syndrome 1

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

ClinVar genetic disease variations for Kleefstra Syndrome 1:

Expression for Kleefstra Syndrome 1

Pathways for Kleefstra Syndrome 1

GO Terms for Kleefstra Syndrome 1

Sources for Kleefstra Syndrome 1