Chromosome 16p11.2 deletion syndrome, 220-kb

Preferred Label : Chromosome 16p11.2 deletion syndrome, 220-kb;

CISMeF acronym : BMIQ16;

Type : Phenotype, molecular basis known;

Included titles and symbols : Body mass index quantitative trait locus 16; Obesity, susceptibility to; BMIQ16;

Description : The deletion of a 220-kb region on chromosome 16p11.2 encompassing approximately 9 genes, including the SH2B1 gene (608937), is associated with a highly penetrant form of isolated severe early-onset obesity as well as obesity with developmental delay (summary by Bachmann-Gagescu et al., 2010). An extended 1.7-Mb deletion of chromosome 16p11.2 containing both the 220-kb region and the proximal 593-kb region associated autism (see 611913) has been reported in 2 patients with a syndrome of autism, mental retardation, and obesity and in 2 patients with pervasive developmental disorder, auditory processing difficulties, and attention deficit-hyperactivity disorder but not obesity. For a phenotypic description and a discussion of genetic heterogeneity of body mass index (BMI), see 606641.;

Prefixed ID : #613444;

Details

Origin ID

613444;

UMLS CUI

C3150701;

Automatic exact mappings (from CISMeF team)
- Chromosome 16p11.2 Deletion Syndrome [NCIt concept]
- Chromosome 16p11.2 deletion syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Distal 16p11.2 microdeletion syndrome [ORDO Disease]
- Distal 16p11.2 microdeletion syndrome (disorder) [SNOMED CT concept]
- chromosome 16p11.2 deletion syndrome [DO Concept]
DO Cross reference
- chromosome 16p11.2 deletion syndrome [DO Concept]
ORDO concept(s)
- Distal 16p11.2 microdeletion syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Distal 16p11.2 microdeletion syndrome [ORDO Disease]

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