Williams-beuren syndrome

Preferred Label : Williams-beuren syndrome;

Symbol : WBS;

CISMeF acronym : WBS; WMS; WS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : WMS; Chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb; Williams syndrome; WS;

Description : Williams-Beuren syndrome is a multisystem disorder caused by hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23, which contains approximately 28 genes. Pober (2010) reviewed the clinical features of Williams-Beuren syndrome as well as the genomic and genetic basis and clinical management. See also the distal chromosome 7q11.23 deletion syndrome (613729), which occurs between the WBS region and the MAGI2 gene (606382).;

Inheritance : Autosomal dominant;

Molecular basis : Contiguous gene syndrome resulting from hemizygous deletion 1.5 - 1.8 Mb on 7q11.2;

Laboratory abnormalities : Hemizygous deletion at 7q11.23;

Prefixed ID : #194050;

Details

Origin ID

194050;

UMLS CUI

C0175702;

Automatic exact mappings (from CISMeF team)
- ADAMTS10 wt Allele [NCIt concept]
- CDKN1C wt Allele [NCIt concept]
- ELN wt Allele [NCIt concept]
- FBN1 wt Allele [NCIt concept]
- Lower case Roman letter w (qualifier value) [SNOMED CT concept]
- Microspherophakia or Weill Marchesani Syndrome [ICD-11 More detail]
- Samoa [NCIt concept]
- Upper case Roman letter W (qualifier value) [SNOMED CT concept]
- Watt [NCIt concept]
- Weber [NCIt concept]
- Werner Syndrome [NCIt concept]
- Werner syndrome [ORDO Disease]
- Werner syndrome [DO Concept]
- beckwith-wiedemann syndrome [MeSH Descriptor]
- elastin [ORDO Gene]
- elastin [HGNC gene]
- weber (qualifier value) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Williams Beuren syndrome [Disease (Nov.)]
- Williams Syndrome [NCIt concept]
- Williams syndrome [PASCAL descriptor]
- Williams syndrome [MedDRA Preferred Term]
- Williams syndrome [ORDO Disease]
- Williams syndrome (disorder) [SNOMED CT concept]
- Williams-Beuren syndrome [DO Concept]
- Williams-Beuren syndrome [ICD-11 More detail]
- williams syndrome [MeSH Descriptor]
- williams syndrome [MeSH concept]
- williams syndrome [SNOMED Notion]
DO Cross reference
- Williams-Beuren syndrome [DO Concept]
HPO term(s)
- Abnormal renal morphology [HPO term]
- Abnormality of refraction [HPO term]
- Amblyopia [HPO term]
- Anteverted nares [HPO term]
- Anxiety [HPO term]
- Atrial septal defect [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autosomal dominant inheritance [HPO term]
- Behavioral abnormality [HPO term]
- Bicuspid aortic valve [HPO term]
- Bitemporal narrowing [HPO term]
- Bladder diverticulum [HPO term]
- Blepharophimosis [HPO term]
- Blue irides [HPO term]
- Broad nasal tip [HPO term]
- Celiac disease [HPO term]
- Cerebellar hypoplasia [HPO term]
- Chiari type I malformation [HPO term]
- Chronic constipation [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Colonic diverticula [HPO term]
- Constipation [HPO term]
- Coronary artery stenosis [HPO term]
- Cutis laxa [HPO term]
- Dental malocclusion [HPO term]
- Depressed nasal bridge [HPO term]
- Diabetes mellitus [HPO term]
- Down-sloping shoulders [HPO term]
- Early onset of sexual maturation [HPO term]
- Enuresis [HPO term]
- Epicanthus [HPO term]
- Failure to thrive in infancy [HPO term]
- Feeding difficulties in infancy [HPO term]
- Flattened nasal bridge [HPO term]
- Flexion contracture [HPO term]
- Food intolerance [HPO term]
- Full cheeks [HPO term]
- Full lips [HPO term]
- Gait imbalance [HPO term]
- Gastroesophageal reflux [HPO term]
- Generalized hypotonia [HPO term]
- Glucose intolerance [HPO term]
- Hallux valgus [HPO term]
- Hoarse voice [HPO term]
- Hyperacusis [HPO term]
- Hypercalcemia [HPO term]
- Hypercalciuria [HPO term]
- Hyperreflexia [HPO term]
- Hypertension [HPO term]
- Hypodontia [HPO term]
- Hypotelorism [HPO term]
- Hypothyroidism [HPO term]
- Hypotonia [HPO term]
- Impaired visuospatial constructive cognition [HPO term]
- Incoordination [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Joint laxity [HPO term]
- Kidney malformation [HPO term]
- Kyphoscoliosis [HPO term]
- Large earlobe [HPO term]
- Long philtrum [HPO term]
- Malar flattening [HPO term]
- Medial flaring of the eyebrow [HPO term]
- Microdontia [HPO term]
- Micropenis [HPO term]
- Midface retrusion [HPO term]
- Mitral regurgitation [HPO term]
- Mitral valve prolapse [HPO term]
- Myxomatous mitral valve degeneration [HPO term]
- Narrow forehead [HPO term]
- Nephrocalcinosis [HPO term]
- Obesity [HPO term]
- Obsessive-compulsive trait [HPO term]
- Open mouth [HPO term]
- Osteopenia [HPO term]
- Osteoporosis [HPO term]
- Pectus excavatum [HPO term]
- Pelvic kidney [HPO term]
- Periorbital fullness [HPO term]
- Peripheral pulmonary artery stenosis [HPO term]
- Phonophobia [HPO term]
- Poor coordination [HPO term]
- Portal hypertension [HPO term]
- Premature graying of hair [HPO term]
- Prominent ear lobes [HPO term]
- Pulmonic stenosis [HPO term]
- Radioulnar synostosis [HPO term]
- Rectal prolapse [HPO term]
- Recurrent otitis media [HPO term]
- Recurrent urinary tract infections [HPO term]
- Renal artery stenosis [HPO term]
- Renal hypoplasia [HPO term]
- Renal insufficiency [HPO term]
- Retinal arteriolar tortuosity [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short attention span [HPO term]
- Short nose [HPO term]
- Short stature [HPO term]
- Sleep disturbance [HPO term]
- Sloping shoulders [HPO term]
- Small nail [HPO term]
- Soft skin [HPO term]
- Strabismus [HPO term]
- Stroke [HPO term]
- Sudden death [HPO term]
- Supravalvular aortic stenosis [HPO term]
- Thick lower lip vermilion [HPO term]
- Umbilical hernia [HPO term]
- Urethral stenosis [HPO term]
- Ventricular septal defect [HPO term]
- Vesicoureteral reflux [HPO term]
- Vocal cord paralysis [HPO term]
- obsolete Glucose intolerance [HPO term]
ORDO concept(s)
- Williams syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Williams Beuren syndrome [Disease (Nov.)]
- Williams Syndrome [NCIt concept]
- Williams syndrome [ORDO Disease]
- Williams syndrome [MedDRA Preferred Term]
- Williams syndrome [PASCAL descriptor]
- Williams syndrome (disorder) [SNOMED CT concept]
- Williams-Beuren syndrome [DO Concept]
- Williams-Beuren syndrome [ICD-11 More detail]
- williams syndrome [SNOMED Notion]
- williams syndrome [MeSH Descriptor]
- williams syndrome [MeSH concept]

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