|
KLEFS1
MCID: KLF004
MIFTS: 50
|
Kleefstra Syndrome 1 (KLEFS1)
Categories:
Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
|
|
|
|
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®:57 (Updated 05-Mar-2021)
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 Anatomical: Neuronal diseases Mental diseases
ICD10:
33
Orphanet: 58
Rare neurological diseases
Developmental anomalies during embryogenesis External Ids:
|
|
OMIM® :
57
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) (Updated 05-Mar-2021)
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). Affiliated tissues include tongue, heart and testis, and related phenotypes are intellectual disability and dysphasia 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 113)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:610253 (Updated 05-Mar-2021)UMLS symptoms related to Kleefstra Syndrome 1:seizures GenomeRNAi Phenotypes related to Kleefstra Syndrome 1 according to GeneCards Suite gene sharing:26
|
|
Cochrane evidence based reviews: kleefstra syndrome |
MalaCards organs/tissues related to Kleefstra Syndrome 1:40
Tongue,
Heart,
Testis
|
Articles related to Kleefstra Syndrome 1:(show all 11)
|
Genes related to Kleefstra Syndrome 1 (4 elite genes):(show all 29) - Elite gene
- Cancer Census gene in COSMIC
|
ClinVar genetic disease variations for Kleefstra Syndrome 1:6 (show top 50) (show all 458)
UniProtKB/Swiss-Prot genetic disease variations for Kleefstra Syndrome 1:73
|
|
Search
GEO
for disease gene expression data for Kleefstra Syndrome 1.
|
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:
|
|