Malan syndrome

Preferred Label : Malan syndrome;

Symbol : MALNS;

CISMeF acronym : SOTOS2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Malan overgrowth syndrome; Sotos syndrome 2; SOTOS2;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the nuclear factor I/X (CCAAT-binding transcription factor) gene (NFIX, 164005.0001);

Prefixed ID : #614753;

Details

Origin ID

614753;

UMLS CUI

C3553660;

Currated CISMeF NLP mapping
- Malan overgrowth syndrome [ORDO Disease]
- Malan overgrowth syndrome (disorder) [SNOMED CT concept]
DO Cross reference
- Sotos syndrome [DO Concept]
Genes related to phenotype
- Nuclear factor I/x [OMIM gene]
HPO term(s)
- Accelerated skeletal maturation [HPO term]
- Advanced eruption of teeth [HPO term]
- Anxiety [HPO term]
- Astigmatism [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Childhood onset [HPO term]
- Coxa valga [HPO term]
- Cutis marmorata [HPO term]
- Delayed speech and language development [HPO term]
- Downslanted palpebral fissures [HPO term]
- Everted lower lip vermilion [HPO term]
- Gingival overgrowth [HPO term]
- High forehead [HPO term]
- Hypermetropia [HPO term]
- Hyperplasia of the premaxilla [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Long face [HPO term]
- Long fingers [HPO term]
- Macrocephaly [HPO term]
- Mandibular prognathia [HPO term]
- Midface retrusion [HPO term]
- Motor delay [HPO term]
- Narrow face [HPO term]
- Narrow mouth [HPO term]
- Neonatal onset [HPO term]
- Nystagmus [HPO term]
- Overgrowth [HPO term]
- Pectus excavatum [HPO term]
- Retrognathia [HPO term]
- Scoliosis [HPO term]
- Short nose [HPO term]
- Strabismus [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Malan overgrowth syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Malan overgrowth syndrome [ORDO Disease]
- Malan overgrowth syndrome (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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