Wiedemann-steiner syndrome

Preferred Label : Wiedemann-steiner syndrome;

Symbol : WDSTS;

CISMeF acronym : WDSTS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hairy elbows, short stature, facial dysmorphism, and developmental delay;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the myeloid/lymphoid or mixed lineage leukemia gene (MLL, 159555.0001);

Prefixed ID : #605130;

Details

Origin ID

605130;

UMLS CUI

C1854630;

Automatic exact mappings (from CISMeF team)
- KMT2A wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Wiedemann Steiner syndrome (disorder) [SNOMED CT concept]
- Wiedemann-Steiner syndrome [ORDO Disease]
- growth deficiency and mental retardation with facial dysmorphism [MeSH concept]
- growth deficiency and mental retardation with facial dysmorphism [MeSH Supplementary Concept]
Genes related to phenotype
- Lysine-specific methyltransferase 2a [OMIM gene]
HPO term(s)
- Abnormality of the dentition [HPO term]
- Aggressive behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Blepharophimosis [HPO term]
- Broad-based gait [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Constipation [HPO term]
- Delayed skeletal maturation [HPO term]
- Delayed speech and language development [HPO term]
- Depressed nasal tip [HPO term]
- Downslanted palpebral fissures [HPO term]
- Epicanthus [HPO term]
- Failure to thrive [HPO term]
- Flat face [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- High palate [HPO term]
- Hypertelorism [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Long eyelashes [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Narrow palpebral fissure [HPO term]
- Sacral dimple [HPO term]
- Seizure [HPO term]
- Short middle phalanx of finger [HPO term]
- Short phalanx of finger [HPO term]
- Short stature [HPO term]
- Short toe [HPO term]
- Strabismus [HPO term]
- Synophrys [HPO term]
- Tapered finger [HPO term]
- Thick eyebrow [HPO term]
- Thin upper lip vermilion [HPO term]
- Wide nasal bridge [HPO term]
- Wide nose [HPO term]
ORDO concept(s)
- Wiedemann-Steiner syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Wiedemann Steiner syndrome (disorder) [SNOMED CT concept]
- Wiedemann-Steiner syndrome [ORDO Disease]
- growth deficiency and mental retardation with facial dysmorphism [MeSH Supplementary Concept]
- growth deficiency and mental retardation with facial dysmorphism [MeSH concept]

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