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KLEFS1
MCID: KLF004
MIFTS: 50
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Kleefstra Syndrome 1 (KLEFS1)
Categories:
Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Kleefstra Syndrome 1:
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:31Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Mental diseases Eye diseases
ICD10:
33
Orphanet: 58
Rare neurological diseases
Developmental anomalies during embryogenesis External Ids:
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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 9q subtelomeric deletion syndrome, is related to kleefstra syndrome and kleefstra syndrome due to a point mutation, 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 PKMTs methylate histone lysines. Affiliated tissues include heart, testis and tongue, and related phenotypes are intellectual disability and global developmental delay 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... |
Human phenotypes related to Kleefstra Syndrome 1:58 31 (show top 50) (show all 112)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:610253UMLS symptoms related to Kleefstra Syndrome 1:seizures |
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Cochrane evidence based reviews: kleefstra syndrome |
MalaCards organs/tissues related to Kleefstra Syndrome 1:40
Heart,
Testis,
Tongue
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Articles related to Kleefstra Syndrome 1:(show all 12)
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Genes related to Kleefstra Syndrome 1 (2 elite genes):(show all 21) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Kleefstra Syndrome 1:6 (show top 50) (show all 419)
UniProtKB/Swiss-Prot genetic disease variations for Kleefstra Syndrome 1:73
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Search
GEO
for disease gene expression data for Kleefstra Syndrome 1.
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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:
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