Kleefstra syndrome 1

Preferred Label : Kleefstra syndrome 1;

Symbol : KLEFS1;

CISMeF acronym : KLEFS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : 9q- syndrome; 9q subtelomeric deletion syndrome; Chromosome 9q34.3 deletion syndrome;

Description : 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.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the euchromatic histone methyltransferase-1 gene (EHMT1, 607001.0001);

Prefixed ID : #610253;

Détails

Origin ID

610253;

UMLS CUI

C0795833;

Automatic exact mappings (from CISMeF team)
- Kleefstra syndrome due to 9q34 microdeletion [ORDO Disease]
DO Cross reference
- Kleefstra syndrome 1 [DO Concept]
Genes related to phenotype
- Euchromatic histone methyltransferase 1 [OMIM gene]
HPO term(s)
- Abnormal renal morphology [HPO term]
- Abnormality of the pinna [HPO term]
- Aggressive behavior [HPO term]
- Anteverted nares [HPO term]
- Apathy [HPO term]
- Autism [HPO term]
- Autosomal dominant inheritance [HPO term]
- Behavioral abnormality [HPO term]
- Brachycephaly [HPO term]
- Brachydactyly [HPO term]
- Coarse facial features [HPO term]
- Conotruncal defect [HPO term]
- Cryptorchidism [HPO term]
- Delayed speech and language development [HPO term]
- Everted lower lip vermilion [HPO term]
- Flat face [HPO term]
- Gastroesophageal reflux [HPO term]
- Generalized hypotonia [HPO term]
- Hearing impairment [HPO term]
- Hypertelorism [HPO term]
- Hypospadias [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, severe [HPO term]
- Isolated cases [HPO term]
- Kidney malformation [HPO term]
- Macroglossia [HPO term]
- Malar flattening [HPO term]
- Mandibular prognathia [HPO term]
- Microcephaly [HPO term]
- Micropenis [HPO term]
- Midface retrusion [HPO term]
- Natal tooth [HPO term]
- Obesity [HPO term]
- Obsessive-compulsive behavior [HPO term]
- Persistence of primary teeth [HPO term]
- Protruding tongue [HPO term]
- Recurrent respiratory infections [HPO term]
- Seizure [HPO term]
- Single transverse palmar crease [HPO term]
- Sleep disturbance [HPO term]
- Sporadic [HPO term]
- Synophrys [HPO term]
- Talipes equinovarus [HPO term]
- Tracheobronchomalacia [HPO term]
- U-Shaped upper lip vermilion [HPO term]
- Upslanted palpebral fissure [HPO term]
ORDO concept(s)
- Kleefstra syndrome [ORDO Disease]
- Kleefstra syndrome due to 9q34 microdeletion [ORDO Disease]
- Kleefstra syndrome due to a point mutation [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 9q34 deletion [ICD-11 More detail]
- Kleefstra Syndrome [DO Concept]
- Kleefstra Syndrome [NCIt concept]
- Kleefstra Syndrome [Disease (Nov.)]
- Kleefstra syndrome [ORDO Disease]
- Kleefstra syndrome (disorder) [SNOMED CT concept]
- Kleefstra syndrome 1 [DO Concept]
- Kleefstra syndrome due to 9q34 microdeletion [ORDO Disease]
- kleefstra syndrome [MeSH Supplementary Concept]
- kleefstra syndrome [MeSH concept]
Validated automatic mappings to NTBT
- 9q34 deletion [ICD-11 More detail]
- Kleefstra Syndrome [DO Concept]
- Kleefstra Syndrome [Disease (Nov.)]
- Kleefstra Syndrome [NCIt concept]
- Kleefstra syndrome [ICD-11 More detail]
- Kleefstra syndrome [ORDO Disease]
- Kleefstra syndrome (disorder) [SNOMED CT concept]
- Kleefstra syndrome 1 [DO Concept]
- kleefstra syndrome [MeSH concept]
- kleefstra syndrome [MeSH Supplementary Concept]

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