MCID: CHR620
MIFTS: 21

Chromosome 16p11.2 Deletion Syndrome, 220-Kb

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Rare 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 58
Chromosome 16p11.2 Deletion Syndrome, 220kb 58 12 13 15
Chromosome 16p11.2 Deletion Syndrome, 220 Kb 30 6
Distal 16p11.2 Microdeletion Syndrome 12 60
Distal Monosomy 16p11.2 60
Body Mass Index Qtl16 58
Distal Del(16)(p11.2) 60

Classifications:



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

OMIM : 58 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 global developmental delay and neonatal hypotonia

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

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

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

60 33 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
2 neonatal hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001319
3 attention deficit hyperactivity disorder 60 33 hallmark (90%) Very frequent (99-80%) HP:0007018
4 prominent nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000426
5 arachnodactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001166
6 narrow mouth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000160
7 low anterior hairline 60 33 hallmark (90%) Very frequent (99-80%) HP:0000294
8 rod-cone dystrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0000510
9 oval face 60 33 hallmark (90%) Very frequent (99-80%) HP:0000300
10 obesity 60 33 frequent (33%) Frequent (79-30%) HP:0001513
11 intellectual disability 60 33 frequent (33%) Frequent (79-30%) HP:0001249
12 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
13 proteinuria 60 33 frequent (33%) Frequent (79-30%) HP:0000093
14 hyperuricemia 60 33 frequent (33%) Frequent (79-30%) HP:0002149
15 aganglionic megacolon 60 33 frequent (33%) Frequent (79-30%) HP:0002251
16 vesicoureteral reflux 60 33 frequent (33%) Frequent (79-30%) HP:0000076
17 autistic behavior 60 33 frequent (33%) Frequent (79-30%) HP:0000729
18 renal agenesis 60 33 frequent (33%) Frequent (79-30%) HP:0000104
19 chronic kidney disease 60 33 frequent (33%) Frequent (79-30%) HP:0012622
20 chronic constipation 60 33 frequent (33%) Frequent (79-30%) HP:0012450
21 moderate receptive language delay 60 33 frequent (33%) Frequent (79-30%) HP:0011351
22 kyphosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002808
23 migraine 60 33 occasional (7.5%) Occasional (29-5%) HP:0002076
24 delayed speech and language development 60 Very frequent (99-80%)
25 abnormality of the kidney 60 Frequent (79-30%)
26 retinal dystrophy 60 Very frequent (99-80%)

Clinical features from OMIM:

613444

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 30

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

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

42
Kidney

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

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

ClinVar genetic disease variations for Chromosome 16p11.2 Deletion Syndrome, 220-Kb:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ATP2A1; ATXN2L; EIF3C; NUPR1; SGF29; SH2B1; SULT1A1; SULT1A2; TUFM GRCh37/hg19 16p11.2(chr16: 28529940-28906458) copy number loss Pathogenic GRCh37 Chromosome 16, 28529940: 28906458
2 ATP2A1; ATXN2L; CD19; EIF3C; LAT; NFATC2IP; RABEP2; SH2B1; SPNS1; TUFM GRCh37/hg19 16p11.2(chr16: 28734571-29043450) copy number loss Pathogenic GRCh37 Chromosome 16, 28734571: 29043450

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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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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