Sotos syndrome

Preferred Label : Sotos syndrome;

Symbol : SOTOS;

CISMeF acronym : SOTOS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Chromosome 5q35 deletion syndrome; Cerebral gigantism; Sotos syndrome 1; SOTOS1;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the nuclear receptor binding SET domain protein 1 gene (NSD1, 606681.0001);

Neoplasia : Wilms tumor;

Prefixed ID : #117550;

Détails

Origin ID

117550;

UMLS CUI

C0175695;

Automatic exact mappings (from CISMeF team)
- Cerebral gigantism [MedDRA LLT]
- Congenital malformation syndromes involving early overgrowth [ICD-10 Sub-category]
- Congenital malformation syndromes involving early overgrowth [ICD-10 Sub-category (who)]
- NSD1 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Cerebral gigantism [PASCAL descriptor]
- Sotos Syndrome [NCIt concept]
- Sotos syndrome [DO Concept]
- Sotos syndrome [ICD-11 More detail]
- Sotos syndrome [ORDO Disease]
- Sotos' syndrome [MedDRA Preferred Term]
- Sotos' syndrome (disorder) [SNOMED CT concept]
- sotos syndrome [MeSH Descriptor]
- sotos syndrome [MeSH concept]
- sotos' syndrome [SNOMED Notion]
DO Cross reference
- Sotos syndrome [DO Concept]
Genes related to phenotype
- Nuclear receptor-binding set domain protein 1 [OMIM gene]
HPO term(s)
- Abnormality of the kidney [HPO term]
- Accelerated skeletal maturation [HPO term]
- Advanced eruption of teeth [HPO term]
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Behavioral abnormality [HPO term]
- Cavum septum pellucidum [HPO term]
- Conductive hearing impairment [HPO term]
- Cryptorchidism [HPO term]
- Delayed speech and language development [HPO term]
- Dolichocephaly [HPO term]
- Downslanted palpebral fissures [HPO term]
- Enlarged cisterna magna [HPO term]
- Episodic vomiting [HPO term]
- Expressive language delay [HPO term]
- Feeding difficulties [HPO term]
- Frontal bossing [HPO term]
- Gastroesophageal reflux [HPO term]
- Genu valgum [HPO term]
- Global developmental delay [HPO term]
- Glucose intolerance [HPO term]
- High anterior hairline [HPO term]
- High palate [HPO term]
- High, narrow palate [HPO term]
- High-arched palate [HPO term]
- Hypermetropia [HPO term]
- Hyperreflexia [HPO term]
- Hypertelorism [HPO term]
- Hypotonia [HPO term]
- Increased body weight [HPO term]
- Intellectual disability [HPO term]
- Isolated cases [HPO term]
- Joint laxity [HPO term]
- Large hands [HPO term]
- Long face [HPO term]
- Long foot [HPO term]
- Long metacarpals [HPO term]
- Long phalanx of finger [HPO term]
- Macrocephaly [HPO term]
- Macrotia [HPO term]
- Mandibular prognathia [HPO term]
- Motor delay [HPO term]
- Narrow jaw [HPO term]
- Narrow palate [HPO term]
- Neonatal hypoglycemia [HPO term]
- Neonatal hypotonia [HPO term]
- Neonatal onset [HPO term]
- Neoplasm [HPO term]
- Nephroblastoma [HPO term]
- Nystagmus [HPO term]
- Otitis media [HPO term]
- Overgrowth [HPO term]
- Partial agenesis of the corpus callosum [HPO term]
- Patent ductus arteriosus [HPO term]
- Pes planus [HPO term]
- Pointed chin [HPO term]
- Poor coordination [HPO term]
- Prolonged neonatal jaundice [HPO term]
- Prominent forehead [HPO term]
- Prominent jaw [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Small nail [HPO term]
- Strabismus [HPO term]
- Tall stature [HPO term]
- Ventricular septal defect [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Sotos syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cerebral gigantism [MedDRA LLT]
- Cerebral gigantism [PASCAL descriptor]
- Sotos Syndrome [NCIt concept]
- Sotos syndrome [ORDO Disease]
- Sotos syndrome [DO Concept]
- Sotos' syndrome [MedDRA Preferred Term]
- Sotos' syndrome (disorder) [SNOMED CT concept]
- sotos syndrome [MeSH Descriptor]
- sotos syndrome [MeSH concept]
- sotos' syndrome [SNOMED Notion]

Position du mot-clé dans l'(les) arborescence(s) :

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