Chromosome 15q11-q13 duplication syndrome

Preferred Label : Chromosome 15q11-q13 duplication syndrome;

CISMeF acronym : AUTS4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Duplication 15q11-q13 syndrome;

Included titles and symbols : Autism, susceptibility to, 4; Chromosome 15q11.2 duplication syndrome; AUTS4;

Inheritance : Autosomal dominant;

Molecular basis : Contiguous gene syndrome caused by 6-Mb duplication of 15q11-q13;

Laboratory abnormalities : Increased serum serotonin in 25%;

Prefixed ID : #608636;

Details

Origin ID

608636;

UMLS CUI

C2675336;

Automatic exact mappings (from CISMeF team)
- microdeletion 15q11.2 [MeSH concept]
Currated CISMeF NLP mapping
- 15q11q13 duplication [ICD-11 More detail]
- 15q11q13 microduplication syndrome [ORDO Disease]
- 15q11q13 microduplication syndrome (disorder) [SNOMED CT concept]
- Chromosome 15q11-q13 Duplication Syndrome [NCIt concept]
- duplication 15q11-q13 syndrome [MeSH concept]
- duplication 15q11-q13 syndrome [MeSH Supplementary Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Childhood onset [HPO term]
- Delayed speech and language development [HPO term]
- EEG abnormality [HPO term]
- Heterogeneous [HPO term]
- Impaired ability to form peer relationships [HPO term]
- Incomplete penetrance [HPO term]
- Increased serum serotonin [HPO term]
- Inflexible adherence to routines or rituals [HPO term]
- Intellectual disability [HPO term]
- Isolated cases [HPO term]
- Lack of spontaneous play [HPO term]
- Multifactorial inheritance [HPO term]
- Onset by 3 years of age [HPO term]
- Restrictive behavior [HPO term]
- Seizure [HPO term]
- Sporadic [HPO term]
ORDO concept(s)
- 15q11q13 microduplication syndrome [ORDO Disease]
- Autism [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 15q11q13 microduplication syndrome [ORDO Disease]
- 15q11q13 microduplication syndrome (disorder) [SNOMED CT concept]
- Chromosome 15q11-q13 Duplication Syndrome [NCIt concept]
- duplication 15q11-q13 syndrome [MeSH Supplementary Concept]
- duplication 15q11-q13 syndrome [MeSH concept]
Validated automatic mappings to BTNT
- 15q11.2 microdeletion syndrome [ORDO Disease]

Keyword's position in hierarchy(ies) :

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