MCID: CHR620
MIFTS: 20

Chromosome 16p11.2 Deletion Syndrome, 220-Kb

Categories: Endocrine diseases, Fetal 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 57
Chromosome 16p11.2 Deletion Syndrome, 220 Kb 29 6
Chromosome 16p11.2 Deletion Syndrome, 220kb 57 13
Distal 16p11.2 Microdeletion Syndrome 58
Distal Monosomy 16p11.2 58
Body Mass Index Qtl16 57
Distal Del(16)(p11.2) 58

Classifications:

Orphanet: 58  
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 613444
ICD10 via Orphanet 33 Q93.5
Orphanet 58 ORPHA261222

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) (Updated 05-Apr-2021)

MalaCards based summary : Chromosome 16p11.2 Deletion Syndrome, 220-Kb, also known as chromosome 16p11.2 deletion syndrome, 220 kb, is related to chromosome 16p11.2 deletion syndrome. 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 intellectual disability and seizures

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

Diseases related to Chromosome 16p11.2 Deletion Syndrome, 220-Kb via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 chromosome 16p11.2 deletion syndrome 31.2 SH2B1 BMIQ16

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

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

58 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 Frequent (79-30%)
2 seizures 58 Frequent (79-30%)
3 kyphosis 58 Occasional (29-5%)
4 global developmental delay 58 Very frequent (99-80%)
5 delayed speech and language development 58 Very frequent (99-80%)
6 neonatal hypotonia 58 Very frequent (99-80%)
7 proteinuria 58 Frequent (79-30%)
8 hyperuricemia 58 Frequent (79-30%)
9 attention deficit hyperactivity disorder 58 Very frequent (99-80%)
10 obesity 58 Frequent (79-30%)
11 arachnodactyly 58 Very frequent (99-80%)
12 narrow mouth 58 Very frequent (99-80%)
13 aganglionic megacolon 58 Frequent (79-30%)
14 vesicoureteral reflux 58 Frequent (79-30%)
15 low anterior hairline 58 Very frequent (99-80%)
16 prominent nasal bridge 58 Very frequent (99-80%)
17 abnormality of the kidney 58 Frequent (79-30%)
18 migraine 58 Occasional (29-5%)
19 rod-cone dystrophy 58 Very frequent (99-80%)
20 retinal dystrophy 58 Very frequent (99-80%)
21 autistic behavior 58 Frequent (79-30%)
22 renal agenesis 58 Frequent (79-30%)
23 chronic kidney disease 58 Frequent (79-30%)
24 oval face 58 Very frequent (99-80%)
25 moderate receptive language delay 58 Frequent (79-30%)
26 chronic constipation 58 Frequent (79-30%)

Clinical features from OMIM®:

613444 (Updated 05-Apr-2021)

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:

40
Kidney

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

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

# Title Authors PMID Year
1
Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease. 57
20799338 2010
2
Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity. 57
20808231 2010
3
Large, rare chromosomal deletions associated with severe early-onset obesity. 57
19966786 2010
4
Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. 57
19079261 2009
5
Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity. 57
19079260 2009
6
Genetic and structural variation in the SH2B1 gene in the Belgian population. 61
26031769 2015

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

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 10 genes GRCh37/hg19 16p11.2(chr16:28734571-29043450) copy number loss Pathogenic 625601 GRCh37: 16:28734571-29043450
GRCh38:
2 overlap with 9 genes GRCh37/hg19 16p11.2(chr16:28529940-28906458) copy number loss Pathogenic 625600 GRCh37: 16:28529940-28906458
GRCh38:

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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