KLEFS2
MCID: KLF005
MIFTS: 18

Kleefstra Syndrome 2 (KLEFS2)

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

Aliases & Classifications for Kleefstra Syndrome 2

MalaCards integrated aliases for Kleefstra Syndrome 2:

Name: Kleefstra Syndrome 2 57 75 6
Klefs2 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation


Classifications:



Summaries for Kleefstra Syndrome 2

OMIM : 57 Kleefstra syndrome-2 is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features (summary by Koemans et al., 2017). For a discussion of genetic heterogeneity of Kleefstra syndrome, see KLEFS1 (610253). (617768)

MalaCards based summary : Kleefstra Syndrome 2, is also known as klefs2. An important gene associated with Kleefstra Syndrome 2 is KMT2C (Lysine Methyltransferase 2C). Affiliated tissues include eye, and related phenotypes are intellectual disability and seizures

UniProtKB/Swiss-Prot : 75 Kleefstra syndrome 2: A form of Kleefstra syndrome, an autosomal dominant disease characterized by variable mental retardation, psychomotor developmental delay, seizures, behavioral abnormalities, and facial dysmorphisms.

Related Diseases for Kleefstra Syndrome 2

Symptoms & Phenotypes for Kleefstra Syndrome 2

Symptoms via clinical synopsis from OMIM:

57
Skeletal Spine:
scoliosis
kyphosis

Neurologic Central Nervous System:
delayed psychomotor development
seizures (in some patients)
speech delay
intellectual disability, mild to severe

Growth Other:
poor growth

Muscle Soft Tissue:
hypotonia (in some patients)

Growth Height:
decreased height (in some patients)

Head And Neck Ears:
thick ear helices

Neurologic Behavioral Psychiatric Manifestations:
autistic features
behavioral abnormalities

Head And Neck Mouth:
everted lower lip

Head And Neck Eyes:
prominent eyebrows

Head And Neck Face:
flattened midface
dysmorphic facial features, variable

Head And Neck Head:
microcephaly, mild (up to -2 sd in some patients)


Clinical features from OMIM:

617768

Human phenotypes related to Kleefstra Syndrome 2:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 seizures 32 very rare (1%) HP:0001250
3 scoliosis 32 HP:0002650
4 kyphosis 32 HP:0002808
5 global developmental delay 32 HP:0001263
6 delayed speech and language development 32 HP:0000750
7 abnormal facial shape 32 HP:0001999

Drugs & Therapeutics for Kleefstra Syndrome 2

Search Clinical Trials , NIH Clinical Center for Kleefstra Syndrome 2

Genetic Tests for Kleefstra Syndrome 2

Anatomical Context for Kleefstra Syndrome 2

MalaCards organs/tissues related to Kleefstra Syndrome 2:

41
Eye

Publications for Kleefstra Syndrome 2

Variations for Kleefstra Syndrome 2

ClinVar genetic disease variations for Kleefstra Syndrome 2:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 KMT2C NM_170606.2(KMT2C): c.4441C> T (p.Arg1481Ter) single nucleotide variant Likely pathogenic rs587777073 GRCh37 Chromosome 7, 151891591: 151891591
2 KMT2C NM_170606.2(KMT2C): c.4441C> T (p.Arg1481Ter) single nucleotide variant Likely pathogenic rs587777073 GRCh38 Chromosome 7, 152194506: 152194506
3 KMT2C NM_170606.2(KMT2C): c.5216delC (p.Pro1739Leufs) deletion Pathogenic GRCh37 Chromosome 7, 151880108: 151880108
4 KMT2C NM_170606.2(KMT2C): c.5216delC (p.Pro1739Leufs) deletion Pathogenic GRCh38 Chromosome 7, 152183023: 152183023
5 KMT2C NM_170606.2(KMT2C): c.7550C> G (p.Ser2517Ter) single nucleotide variant Likely pathogenic rs779659766 GRCh37 Chromosome 7, 151874988: 151874988
6 KMT2C NM_170606.2(KMT2C): c.7550C> G (p.Ser2517Ter) single nucleotide variant Likely pathogenic rs779659766 GRCh38 Chromosome 7, 152177903: 152177903
7 KMT2C NM_170606.2(KMT2C): c.1690A> T (p.Lys564Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome 7, 152250898: 152250898
8 KMT2C NM_170606.2(KMT2C): c.1690A> T (p.Lys564Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 7, 151947983: 151947983
9 KMT2C NM_170606.2(KMT2C): c.10812_10815delGAAA (p.Lys3605Glufs) deletion Pathogenic GRCh38 Chromosome 7, 152162762: 152162765
10 KMT2C NM_170606.2(KMT2C): c.10812_10815delGAAA (p.Lys3605Glufs) deletion Pathogenic GRCh37 Chromosome 7, 151859847: 151859850
11 KMT2C NM_170606.2(KMT2C): c.7613_7614insC (p.Gln2539Serfs) insertion Likely pathogenic GRCh37 Chromosome 7, 151874925: 151874925
12 KMT2C NM_170606.2(KMT2C): c.7613_7614insC (p.Gln2539Serfs) insertion Likely pathogenic GRCh38 Chromosome 7, 152177839: 152177840

Expression for Kleefstra Syndrome 2

Search GEO for disease gene expression data for Kleefstra Syndrome 2.

Pathways for Kleefstra Syndrome 2

GO Terms for Kleefstra Syndrome 2

Sources for Kleefstra Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....