Tatton-brown-rahman syndrome

Preferred Label : Tatton-brown-rahman syndrome;

Symbol : TBRS;

CISMeF acronym : TBRS;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the DNA methyltransferase 3A gene (DNMT3A, 602769.0001);

Neoplasia : Increased risk of acute myeloid leukemia, particularly associated with R882 mutations;

Prefixed ID : #615879;

Details

Origin ID

615879;

UMLS CUI

C4014545;

Automatic exact mappings (from CISMeF team)
- DNMT3A wt Allele [NCIt concept]
CISMeF manual mappings
- Tatton-Brown-Rahman syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Tall stature, intellectual disability, facial dysmorphism syndrome (disorder) [SNOMED CT concept]
Genes related to phenotype
- Dna methyltransferase 3a [OMIM gene]
HPO term(s)
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Blepharophimosis [HPO term]
- Chiari type I malformation [HPO term]
- Encephalomalacia [HPO term]
- Generalized hypotonia [HPO term]
- Intellectual disability [HPO term]
- Macrocephaly [HPO term]
- Narrow palpebral fissure [HPO term]
- Optic nerve hypoplasia [HPO term]
- Round face [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Tall stature [HPO term]
- Umbilical hernia [HPO term]
ORDO concept(s)
- Tatton-Brown-Rahman syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Tall stature, intellectual disability, facial dysmorphism syndrome (disorder) [SNOMED CT concept]
- Tatton-Brown-Rahman syndrome [ORDO Disease]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients