Rett syndrome - CISMeF

Preferred Label : Rett syndrome;

Symbol : RTT;

CISMeF acronym : RTS; RTT;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Autism, dementia, ataxia, and loss of purposeful hand use; RTS;

Included titles and symbols : Rett syndrome, zappella variant; Rett syndrome, preserved speech variant; Rett syndrome, atypical;

Description : Rett syndrome is a neurodevelopmental disorder that occurs almost exclusively in females. It is characterized by arrested development between 6 and 18 months of age, regression of acquired skills, loss of speech, stereotypical movements (classically of the hands), microcephaly, seizures, and mental retardation. Rarely, classically affected males with somatic mosaicism or an extra X chromosome have been described (Moog et al., 2003).;

Inheritance : X-linked dominant;

Molecular basis : Caused by mutation in the methyl-CpG-binding protein-2 gene (MECP2, 300005.0001);

Prefixed ID : #312750;

Details

Origin ID

312750;

UMLS CUI

C0035372;

Automatic exact mappings (from CISMeF team)
- ATP-Dependent DNA Helicase Q4 [NCIt concept]
- Atypical Rett syndrome [ICD-11 More detail]
- Atypical Rett syndrome [ORDO Disease]
- Atypical Rett syndrome (disorder) [SNOMED CT concept]
- CREB binding protein [ORDO Gene]
- CREBBP wt Allele [NCIt concept]
- RECQL4 wt Allele [NCIt concept]
- Revised trauma score (assessment scale) [SNOMED CT concept]
- Rothmund-Thomson syndrome [DO Concept]
- atypical teratoid rhabdoid tumor [DO Concept]
- rett syndrome, atypical [MeSH Supplementary Concept]
- rett syndrome, atypical [MeSH concept]
- rett syndrome, preserved speech variant [MeSH concept]
- rett syndrome, preserved speech variant [MeSH Supplementary Concept]
- rett syndrome, zappella variant [MeSH concept]
- rett syndrome, zappella variant [MeSH Supplementary Concept]
- symbol withdrawn RTT [HGNC gene]
Currated CISMeF NLP mapping
- Rett Syndrome [Disease (Nov.)]
- Rett Syndrome [NCIt concept]
- Rett syndrome [PASCAL descriptor]
- Rett syndrome [DO Concept]
- Rett syndrome [ICD-11 Subcategory]
- Rett syndrome [MedDRA Preferred Term]
- Rett syndrome [Radlex concept]
- Rett syndrome [ORDO Disease]
- Rett's disorder [DSM-IV term]
- Rett's disorder [MedDRA LLT]
- Rett's disorder (disorder) [SNOMED CT concept]
- Rett's syndrome [ICD-10 Sub-category]
- Retts syndrome [ICD-10 Sub-category (who)]
- rett syndrome [MedlinePlus Topic]
- rett syndrome [MeSH Descriptor]
- rett syndrome [MeSH concept]
- rett's disorder [SNOMED Notion]
- rett's disorder [MedDRA Preferred Term]
DO Cross reference
- Rett syndrome [DO Concept]
False automatic mappings
- Rothmund-Thomson Syndrome [NCIt concept]
- Rothmund-Thomson syndrome [ORDO Disease]
Genes related to phenotype
- Methyl-cpg-binding protein 2 [OMIM gene]
HPO term(s)
- Abnormal T-wave [HPO term]
- Abnormality of the dentition [HPO term]
- Apnea [HPO term]
- Autistic behavior [HPO term]
- Bruxism [HPO term]
- Cachexia [HPO term]
- Cerebral cortical atrophy [HPO term]
- Constipation [HPO term]
- Deceleration of head growth [HPO term]
- Dementia [HPO term]
- Developmental regression [HPO term]
- Dystonia [HPO term]
- EEG abnormality [HPO term]
- Gait apraxia [HPO term]
- Gait ataxia [HPO term]
- Gastroesophageal reflux [HPO term]
- Intellectual disability, profound [HPO term]
- Intermittent hyperventilation [HPO term]
- Kyphosis [HPO term]
- Motor deterioration [HPO term]
- Prolonged QTc interval [HPO term]
- Scoliosis [HPO term]
- Secondary microcephaly [HPO term]
- Seizure [HPO term]
- Short foot [HPO term]
- Short stature [HPO term]
- Skeletal muscle atrophy [HPO term]
- Small feet [HPO term]
- Spasticity [HPO term]
- Truncal ataxia [HPO term]
- X-linked dominant inheritance [HPO term]
ORDO concept(s)
- Atypical Rett syndrome [ORDO Disease]
- Rett syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Rett Syndrome [NCIt concept]
- Rett Syndrome [Disease (Nov.)]
- Rett syndrome [ORDO Disease]
- Rett syndrome [Radlex concept]
- Rett syndrome [DO Concept]
- Rett syndrome [PASCAL descriptor]
- Rett syndrome [ICD-11 Subcategory]
- Rett syndrome [MedDRA Preferred Term]
- Rett's disorder [MedDRA LLT]
- Rett's disorder (disorder) [SNOMED CT concept]
- Rett's syndrome [ICD-10 Sub-category]
- Retts syndrome [ICD-10 Sub-category (who)]
- rett syndrome [MedlinePlus Topic]
- rett syndrome [MeSH Descriptor]
- rett syndrome [MeSH concept]
- rett's disorder [MedDRA Preferred Term]
- rett's disorder [SNOMED Notion]

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