MCID: CHR620
MIFTS: 21

Chromosome 16p11.2 Deletion Syndrome, 220-Kb

Categories: Endocrine diseases, Fetal diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Chromosome 16p11.2 Deletion Syndrome, 220-Kb

MalaCards integrated aliases for Chromosome 16p11.2 Deletion Syndrome, 220-Kb:

Name: Chromosome 16p11.2 Deletion Syndrome, 220-Kb 57
Chromosome 16p11.2 Deletion Syndrome, 220kb 57 12 13 15
Distal 16p11.2 Microdeletion Syndrome 12 59
Chromosome 16p11.2 Deletion Syndrome, 220 Kb 29
Distal Monosomy 16p11.2 59
Body Mass Index Qtl16 57
Distal Del(16)(p11.2) 59

Classifications:



Summaries for Chromosome 16p11.2 Deletion Syndrome, 220-Kb

OMIM : 57 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. (613444)

MalaCards based summary : Chromosome 16p11.2 Deletion Syndrome, 220-Kb, is also known as chromosome 16p11.2 deletion syndrome, 220kb. An important gene associated with Chromosome 16p11.2 Deletion Syndrome, 220-Kb is BMIQ16 (Chromosome 16p11.2 Deletion Syndrome, 220kb). Affiliated tissues include kidney, and related phenotypes are vesicoureteral reflux and proteinuria

Related Diseases for Chromosome 16p11.2 Deletion Syndrome, 220-Kb

Symptoms & Phenotypes for Chromosome 16p11.2 Deletion Syndrome, 220-Kb

Clinical features from OMIM:

613444

Human phenotypes related to Chromosome 16p11.2 Deletion Syndrome, 220-Kb:

59 32 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 vesicoureteral reflux 59 32 frequent (33%) Frequent (79-30%) HP:0000076
2 proteinuria 59 32 frequent (33%) Frequent (79-30%) HP:0000093
3 renal agenesis 59 32 frequent (33%) Frequent (79-30%) HP:0000104
4 narrow mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000160
5 low anterior hairline 59 32 hallmark (90%) Very frequent (99-80%) HP:0000294
6 oval face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000300
7 prominent nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000426
8 rod-cone dystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000510
9 autistic behavior 59 32 frequent (33%) Frequent (79-30%) HP:0000729
10 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
11 arachnodactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001166
12 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
13 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
14 neonatal hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001319
15 obesity 59 32 frequent (33%) Frequent (79-30%) HP:0001513
16 migraine 59 32 occasional (7.5%) Occasional (29-5%) HP:0002076
17 hyperuricemia 59 32 frequent (33%) Frequent (79-30%) HP:0002149
18 aganglionic megacolon 59 32 frequent (33%) Frequent (79-30%) HP:0002251
19 kyphosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002808
20 attention deficit hyperactivity disorder 59 32 hallmark (90%) Very frequent (99-80%) HP:0007018
21 moderate receptive language delay 59 32 frequent (33%) Frequent (79-30%) HP:0011351
22 chronic constipation 59 32 frequent (33%) Frequent (79-30%) HP:0012450
23 chronic kidney disease 59 32 frequent (33%) Frequent (79-30%) HP:0012622
24 abnormality of the kidney 59 Frequent (79-30%)
25 retinal dystrophy 59 Very frequent (99-80%)
26 delayed speech and language development 59 Very frequent (99-80%)

Drugs & Therapeutics for Chromosome 16p11.2 Deletion Syndrome, 220-Kb

Search Clinical Trials , NIH Clinical Center for Chromosome 16p11.2 Deletion Syndrome, 220-Kb

Genetic Tests for Chromosome 16p11.2 Deletion Syndrome, 220-Kb

Genetic tests related to Chromosome 16p11.2 Deletion Syndrome, 220-Kb:

# Genetic test Affiliating Genes
1 Chromosome 16p11.2 Deletion Syndrome, 220 Kb 29

Anatomical Context for Chromosome 16p11.2 Deletion Syndrome, 220-Kb

MalaCards organs/tissues related to Chromosome 16p11.2 Deletion Syndrome, 220-Kb:

41
Kidney

Publications for Chromosome 16p11.2 Deletion Syndrome, 220-Kb

Variations for Chromosome 16p11.2 Deletion Syndrome, 220-Kb

Expression for Chromosome 16p11.2 Deletion Syndrome, 220-Kb

Search GEO for disease gene expression data for Chromosome 16p11.2 Deletion Syndrome, 220-Kb.

Pathways for Chromosome 16p11.2 Deletion Syndrome, 220-Kb

GO Terms for Chromosome 16p11.2 Deletion Syndrome, 220-Kb

Sources for Chromosome 16p11.2 Deletion Syndrome, 220-Kb

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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
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62 PubMed
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74 UMLS via Orphanet
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