MCID: CHR346
MIFTS: 32

Chromosome 22q11.2 Deletion Syndrome, Distal

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Chromosome 22q11.2 Deletion Syndrome, Distal

MalaCards integrated aliases for Chromosome 22q11.2 Deletion Syndrome, Distal:

Name: Chromosome 22q11.2 Deletion Syndrome, Distal 56 12 29 13 6 15 39 71
Distal 22q11.2 Microdeletion Syndrome 12 58
Distal Chromosome 22q11.2 Deletion Syndrome 56
Chromosome 22q11.2 Deletion Syndrome Distal 40
22q11.2 Distal Deletion Syndrome 40
Distal Monosomy 22q11.2 58
Distal Del(22)(q11.2) 58

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Chromosome 22q11.2 Deletion Syndrome, Distal

MalaCards based summary : Chromosome 22q11.2 Deletion Syndrome, Distal, also known as distal 22q11.2 microdeletion syndrome, is related to palatopharyngeal incompetence and digeorge syndrome. An important gene associated with Chromosome 22q11.2 Deletion Syndrome, Distal is DEL22Q11.2 (Chromosome 22q11.2 Deletion Syndrome, Distal), and among its related pathways/superpathways are Immune response IFN gamma signaling pathway and G-protein signaling TC21 regulation pathway. Affiliated tissues include eye and bone, and related phenotypes are intellectual disability and global developmental delay

More information from OMIM: 611867

Related Diseases for Chromosome 22q11.2 Deletion Syndrome, Distal

Diseases related to Chromosome 22q11.2 Deletion Syndrome, Distal via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 palatopharyngeal incompetence 10.0
2 digeorge syndrome 10.0
3 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
4 sensorineural hearing loss 10.0
5 microcephaly 10.0
6 bruxism 9.8 LRRC75B C22orf15
7 coffin-siris syndrome 3 9.2 TMEM156 KLHL5 FAM114A1
8 autosomal dominant non-syndromic intellectual disability 9.1 TMEM156 KLHL5 FAM114A1

Graphical network of the top 20 diseases related to Chromosome 22q11.2 Deletion Syndrome, Distal:



Diseases related to Chromosome 22q11.2 Deletion Syndrome, Distal

Symptoms & Phenotypes for Chromosome 22q11.2 Deletion Syndrome, Distal

Human phenotypes related to Chromosome 22q11.2 Deletion Syndrome, Distal:

58 31 (show top 50) (show all 63)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 58 31 very rare (1%) Very frequent (99-80%) HP:0001263
3 short stature 58 31 frequent (33%) Very frequent (99-80%) HP:0004322
4 smooth philtrum 58 31 very rare (1%) Very frequent (99-80%) HP:0000319
5 highly arched eyebrow 58 31 very rare (1%) Very frequent (99-80%) HP:0002553
6 premature birth 58 31 hallmark (90%) Very frequent (99-80%) HP:0001622
7 language impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0002463
8 malar flattening 58 31 frequent (33%) Occasional (29-5%) HP:0000272
9 pes planus 58 31 frequent (33%) Frequent (79-30%) HP:0001763
10 underdeveloped nasal alae 58 31 very rare (1%) Frequent (79-30%) HP:0000430
11 intrauterine growth retardation 58 31 very rare (1%) Frequent (79-30%) HP:0001511
12 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
13 neoplasm 58 31 frequent (33%) Frequent (79-30%) HP:0002664
14 deeply set eye 58 31 very rare (1%) Frequent (79-30%) HP:0000490
15 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
16 thin upper lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0000219
17 truncus arteriosus 58 31 very rare (1%) Frequent (79-30%) HP:0001660
18 pointed chin 58 31 very rare (1%) Frequent (79-30%) HP:0000307
19 abnormality of earlobe 58 31 frequent (33%) Frequent (79-30%) HP:0000363
20 absent toenail 58 31 frequent (33%) Frequent (79-30%) HP:0001802
21 absent fingernail 58 31 frequent (33%) Frequent (79-30%) HP:0001817
22 seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0001250
23 depressivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000716
24 bowel incontinence 58 31 occasional (7.5%) Occasional (29-5%) HP:0002607
25 hyperlordosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0003307
26 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
27 bowing of the long bones 58 31 occasional (7.5%) Occasional (29-5%) HP:0006487
28 recurrent respiratory infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0002205
29 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
30 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
31 immunodeficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0002721
32 cleft palate 58 31 very rare (1%) Occasional (29-5%) HP:0000175
33 high, narrow palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0002705
34 coxa valga 58 31 occasional (7.5%) Occasional (29-5%) HP:0002673
35 short palm 58 31 occasional (7.5%) Occasional (29-5%) HP:0004279
36 joint hyperflexibility 58 31 occasional (7.5%) Occasional (29-5%) HP:0005692
37 recurrent urinary tract infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0000010
38 narrow mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000160
39 attention deficit hyperactivity disorder 58 31 occasional (7.5%) Occasional (29-5%) HP:0007018
40 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
41 prominent nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000426
42 choanal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000453
43 obsessive-compulsive behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000722
44 facial asymmetry 58 31 occasional (7.5%) Occasional (29-5%) HP:0000324
45 arachnodactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001166
46 sandal gap 58 31 occasional (7.5%) Occasional (29-5%) HP:0001852
47 long face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000276
48 blepharophimosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000581
49 pyloric stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002021
50 short distal phalanx of finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0009882

Clinical features from OMIM:

611867

Drugs & Therapeutics for Chromosome 22q11.2 Deletion Syndrome, Distal

Search Clinical Trials , NIH Clinical Center for Chromosome 22q11.2 Deletion Syndrome, Distal

Genetic Tests for Chromosome 22q11.2 Deletion Syndrome, Distal

Genetic tests related to Chromosome 22q11.2 Deletion Syndrome, Distal:

# Genetic test Affiliating Genes
1 Chromosome 22q11.2 Deletion Syndrome, Distal 29

Anatomical Context for Chromosome 22q11.2 Deletion Syndrome, Distal

MalaCards organs/tissues related to Chromosome 22q11.2 Deletion Syndrome, Distal:

40
Eye, Bone

Publications for Chromosome 22q11.2 Deletion Syndrome, Distal

Articles related to Chromosome 22q11.2 Deletion Syndrome, Distal:

# Title Authors PMID Year
1
The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system. 56
23765049 2014
2
Deletion of TOP3β, a component of FMRP-containing mRNPs, contributes to neurodevelopmental disorders. 56
23912948 2013
3
Phenotypic variability of distal 22q11.2 copy number abnormalities. 56
21671380 2011
4
22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome. 56
18179902 2008
5
Systematic assessment of atypical deletions reveals genotype-phenotype correlation in 22q11.2. 56
15831592 2005
6
A novel 22q11.2 microdeletion in DiGeorge syndrome. 56
9973528 1999
7
Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients. 56
9326327 1997
8
A patient with a de novo distal 22q11.2 microdeletion and anxiety disorder. 61
21271660 2011
9
Distal 22q11.2 microduplication encompassing the BCR gene. 61
19006218 2008

Variations for Chromosome 22q11.2 Deletion Syndrome, Distal

ClinVar genetic disease variations for Chromosome 22q11.2 Deletion Syndrome, Distal:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 covers 17 genes, none of which curated to show dosage sensitivity NC_000022.10:g.21808950_22963000del1154051deletion Pathogenic 599193 22:21808950-22963000
2 covers 25 genes, none of which curated to show dosage sensitivity GRCh37/hg19 22q11.21-11.23(chr22:21797384-23630313)copy number loss Pathogenic 625626 22:21797384-23630313

Expression for Chromosome 22q11.2 Deletion Syndrome, Distal

Search GEO for disease gene expression data for Chromosome 22q11.2 Deletion Syndrome, Distal.

Pathways for Chromosome 22q11.2 Deletion Syndrome, Distal

Pathways related to Chromosome 22q11.2 Deletion Syndrome, Distal according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.97 MAPK1 CRKL
2
Show member pathways
10.36 MAPK1 BCR

GO Terms for Chromosome 22q11.2 Deletion Syndrome, Distal

Molecular functions related to Chromosome 22q11.2 Deletion Syndrome, Distal according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphotyrosine residue binding GO:0001784 8.62 MAPK1 CRKL

Sources for Chromosome 22q11.2 Deletion Syndrome, Distal

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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