MCID: KLF005
MIFTS: 15

Kleefstra Syndrome 2

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



External Ids:

OMIM 57 617768
MeSH 44 D065886

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).

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
Growth Height:
decreased height (in some patients)

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

Head And Neck Ears:
thick ear helices

Head And Neck Mouth:
everted lower lip

Muscle Soft Tissue:
hypotonia (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
autistic features
behavioral abnormalities

Growth Other:
poor growth

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

Head And Neck Eyes:
prominent eyebrows

Skeletal Spine:
kyphosis
scoliosis

Neurologic Central Nervous System:
delayed psychomotor development
intellectual disability, mild to severe
speech delay
seizures (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
# 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 Pathogenic rs779659766 GRCh37 Chromosome 7, 151874988: 151874988
6 KMT2C NM_170606.2(KMT2C): c.7550C> G (p.Ser2517Ter) single nucleotide variant Pathogenic rs779659766 GRCh38 Chromosome 7, 152177903: 152177903
7 KMT2C NM_170606.2(KMT2C): c.1690A> T (p.Lys564Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 7, 152250898: 152250898
8 KMT2C NM_170606.2(KMT2C): c.1690A> T (p.Lys564Ter) single nucleotide variant 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

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
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44 MeSH
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54 NINDS
55 Novoseek
57 OMIM
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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