KLEFS2
MCID: KLF005
MIFTS: 17

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 58 76 6
Klefs2 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation


Classifications:



Summaries for Kleefstra Syndrome 2

OMIM : 58 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). Related phenotypes are seizures and intellectual disability

UniProtKB/Swiss-Prot : 76 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

Human phenotypes related to Kleefstra Syndrome 2:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 seizures 33 very rare (1%) HP:0001250
2 intellectual disability 33 HP:0001249
3 scoliosis 33 HP:0002650
4 kyphosis 33 HP:0002808
5 global developmental delay 33 HP:0001263
6 delayed speech and language development 33 HP:0000750
7 abnormal facial shape 33 HP:0001999

Symptoms via clinical synopsis from OMIM:

58
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:
dysmorphic facial features, variable
flattened midface

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

Clinical features from OMIM:

617768

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

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 rs1554505381 GRCh37 Chromosome 7, 151880108: 151880108
4 KMT2C NM_170606.2(KMT2C): c.5216delC (p.Pro1739Leufs) deletion Pathogenic rs1554505381 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 rs1554580083 GRCh38 Chromosome 7, 152250898: 152250898
8 KMT2C NM_170606.2(KMT2C): c.1690A> T (p.Lys564Ter) single nucleotide variant Likely pathogenic rs1554580083 GRCh37 Chromosome 7, 151947983: 151947983
9 KMT2C NM_170606.2(KMT2C): c.10812_10815delGAAA (p.Lys3605Glufs) deletion Pathogenic rs1554477105 GRCh38 Chromosome 7, 152162762: 152162765
10 KMT2C NM_170606.2(KMT2C): c.10812_10815delGAAA (p.Lys3605Glufs) deletion Pathogenic rs1554477105 GRCh37 Chromosome 7, 151859847: 151859850
11 KMT2C NM_170606.2(KMT2C): c.7613_7614insC (p.Gln2539Serfs) insertion Likely pathogenic rs1554496813 GRCh37 Chromosome 7, 151874925: 151874925
12 KMT2C NM_170606.2(KMT2C): c.7613_7614insC (p.Gln2539Serfs) insertion Likely pathogenic rs1554496813 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

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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
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74 UMLS
75 UMLS via Orphanet
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