MCID: CHR346
MIFTS: 38

Chromosome 22q11.2 Deletion Syndrome, Distal

Categories: Fetal diseases, Rare diseases, Genetic 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 53 12 28 13 14 69
Distal 22q11.2 Microdeletion Syndrome 12 55
Distal Chromosome 22q11.2 Deletion Syndrome 53
Chromosome 22q11.2 Deletion Syndrome Distal 38
22q11.2 Distal Deletion Syndrome 38
Distal Monosomy 22q11.2 55
Distal Del(22)(q11.2) 55

Classifications:



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 chromosome 6pter-p24 deletion syndrome and leukemia, chronic myeloid, and has symptoms including seizures, malar flattening and intellectual disability. 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 Pathways in cancer and EGF/EGFR Signaling Pathway. Affiliated tissues include bone and eye, and related phenotypes are Decreased viability and Decreased viability

Description 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 chromosome 6pter-p24 deletion syndrome 9.4 CRKL MAPK1
2 leukemia, chronic myeloid 9.4 BCR CRKL

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

Clinical features from OMIM:

611867

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

55 31 (show top 50) (show all 64)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0001250
2 malar flattening 55 31 frequent (33%) Occasional (29-5%) HP:0000272
3 intellectual disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001249
4 bowel incontinence 55 31 occasional (7.5%) Occasional (29-5%) HP:0002607
5 hyperlordosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0003307
6 inguinal hernia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000023
7 global developmental delay 55 31 very rare (1%) Very frequent (99-80%) HP:0001263
8 recurrent respiratory infections 55 31 occasional (7.5%) Occasional (29-5%) HP:0002205
9 bowing of the long bones 55 31 occasional (7.5%) Occasional (29-5%) HP:0006487
10 pes planus 55 31 frequent (33%) Frequent (79-30%) HP:0001763
11 microcephaly 55 31 frequent (33%) Frequent (79-30%) HP:0000252
12 smooth philtrum 55 31 very rare (1%) Very frequent (99-80%) HP:0000319
13 sensorineural hearing impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000407
14 short stature 55 31 frequent (33%) Very frequent (99-80%) HP:0004322
15 immunodeficiency 55 31 occasional (7.5%) Occasional (29-5%) HP:0002721
16 cleft palate 55 31 very rare (1%) Occasional (29-5%) HP:0000175
17 neoplasm 55 31 frequent (33%) Frequent (79-30%) HP:0002664
18 coxa valga 55 31 occasional (7.5%) Occasional (29-5%) HP:0002673
19 short palm 55 31 occasional (7.5%) Occasional (29-5%) HP:0004279
20 joint hyperflexibility 55 31 occasional (7.5%) Occasional (29-5%) HP:0005692
21 attention deficit hyperactivity disorder 55 31 occasional (7.5%) Occasional (29-5%) HP:0007018
22 intrauterine growth retardation 55 31 very rare (1%) Frequent (79-30%) HP:0001511
23 high, narrow palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0002705
24 atrial septal defect 55 31 occasional (7.5%) Occasional (29-5%) HP:0001631
25 prominent nasal bridge 55 31 occasional (7.5%) Occasional (29-5%) HP:0000426
26 underdeveloped nasal alae 55 31 very rare (1%) Frequent (79-30%) HP:0000430
27 deeply set eye 55 31 very rare (1%) Frequent (79-30%) HP:0000490
28 clinodactyly of the 5th finger 55 31 frequent (33%) Frequent (79-30%) HP:0004209
29 arachnodactyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001166
30 narrow mouth 55 31 occasional (7.5%) Occasional (29-5%) HP:0000160
31 sandal gap 55 31 occasional (7.5%) Occasional (29-5%) HP:0001852
32 long face 55 31 occasional (7.5%) Occasional (29-5%) HP:0000276
33 choanal atresia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000453
34 ventricular septal defect 55 31 occasional (7.5%) Occasional (29-5%) HP:0001629
35 truncus arteriosus 55 31 very rare (1%) Frequent (79-30%) HP:0001660
36 thin upper lip vermilion 55 31 frequent (33%) Frequent (79-30%) HP:0000219
37 obsessive-compulsive behavior 55 31 occasional (7.5%) Occasional (29-5%) HP:0000722
38 recurrent urinary tract infections 55 31 occasional (7.5%) Occasional (29-5%) HP:0000010
39 pointed chin 55 31 very rare (1%) Frequent (79-30%) HP:0000307
40 blepharophimosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000581
41 highly arched eyebrow 55 31 very rare (1%) Very frequent (99-80%) HP:0002553
42 pyloric stenosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002021
43 short distal phalanx of finger 55 31 occasional (7.5%) Occasional (29-5%) HP:0009882
44 camptodactyly of finger 55 31 occasional (7.5%) Occasional (29-5%) HP:0100490
45 facial asymmetry 55 31 occasional (7.5%) Occasional (29-5%) HP:0000324
46 toe syndactyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001770
47 ulnar deviation of finger 55 31 occasional (7.5%) Occasional (29-5%) HP:0009465
48 abnormality of earlobe 55 31 frequent (33%) Frequent (79-30%) HP:0000363
49 premature birth 55 31 hallmark (90%) Very frequent (99-80%) HP:0001622
50 branchial fistula 55 31 occasional (7.5%) Occasional (29-5%) HP:0009795

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

25 (show all 36)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.09 MAPK1 BCR
2 Decreased viability GR00221-A-1 10.09 CRKL MAPK1
3 Decreased viability GR00221-A-2 10.09 BCR CRKL
4 Decreased viability GR00221-A-3 10.09 MAPK1
5 Decreased viability GR00221-A-4 10.09 BCR CRKL MAPK1
6 Decreased viability GR00231-A 10.09 MAPK1
7 Decreased viability GR00301-A 10.09 BCR
8 Decreased viability GR00342-S-1 10.09 MAPK1
9 Decreased viability GR00342-S-2 10.09 MAPK1
10 Decreased viability GR00342-S-3 10.09 MAPK1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.74 BCR
12 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.74 MAPK1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.74 BCR
14 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.74 BCR
15 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.74 BCR
16 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.74 MAPK1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.74 CRKL
18 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.74 MAPK1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.74 CRKL
20 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.74 MAPK1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.74 BCR
22 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.74 BCR
23 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.74 CRKL MAPK1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.74 MAPK1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.74 MAPK1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.74 BCR
27 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.74 CRKL
28 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.74 BCR
29 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.74 BCR
30 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.74 MAPK1
31 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.74 CRKL
32 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.74 BCR
33 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.74 CRKL MAPK1 BCR
34 Decreased substrate adherent cell growth GR00193-A-1 9.46 MAPK1
35 Decreased substrate adherent cell growth GR00193-A-3 9.46 BCR MAPK1
36 Decreased substrate adherent cell growth GR00193-A-4 9.46 MAPK1

MGI Mouse Phenotypes related to Chromosome 22q11.2 Deletion Syndrome, Distal:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.8 BCR CRKL MAPK1

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 28

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

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

38
Bone, Eye

Publications for Chromosome 22q11.2 Deletion Syndrome, Distal

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

# Title Authors Year
1
22q11.2 Distal Deletion Syndrome: Description of a New Case with Truncus Arteriosus Type 2 and Review. ( 22582037 )
2011
2
1.4Mb recurrent 22q11.2 distal deletion syndrome, two new cases expand the phenotype. ( 18725332 )
2008

Variations for Chromosome 22q11.2 Deletion Syndrome, Distal

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

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

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

# Name GO ID Score Top Affiliating Genes
1 response to lipopolysaccharide GO:0032496 9.26 BCR MAPK1
2 animal organ morphogenesis GO:0009887 9.16 CRKL MAPK1
3 intracellular signal transduction GO:0035556 9.13 BCR CRKL MAPK1
4 thymus development GO:0048538 8.62 CRKL MAPK1

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 CRKL MAPK1

Sources for Chromosome 22q11.2 Deletion Syndrome, Distal

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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