MCID: CHR346
MIFTS: 39

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 58 12 30 13 15 41 74
Distal 22q11.2 Microdeletion Syndrome 12 60
Distal Chromosome 22q11.2 Deletion Syndrome 58
Chromosome 22q11.2 Deletion Syndrome Distal 42
22q11.2 Distal Deletion Syndrome 42
Distal Monosomy 22q11.2 60
Distal Del(22)(q11.2) 60

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 22q11.2 duplication syndrome 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 Endometrial cancer and Pathways in cancer. Affiliated tissues include bone and eye, and related phenotypes are intellectual disability and global developmental delay

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 22q11.2 duplication syndrome 9.7 BCR TBX1
2 digeorge syndrome 9.6 CRKL TBX1
3 chromosome 6pter-p24 deletion syndrome 9.4 CRKL MAPK1 TBX1

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

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

60 33 (show top 50) (show all 63)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 60 33 very rare (1%) Very frequent (99-80%) HP:0001263
3 smooth philtrum 60 33 very rare (1%) Very frequent (99-80%) HP:0000319
4 short stature 60 33 frequent (33%) Very frequent (99-80%) HP:0004322
5 highly arched eyebrow 60 33 very rare (1%) Very frequent (99-80%) HP:0002553
6 premature birth 60 33 hallmark (90%) Very frequent (99-80%) HP:0001622
7 language impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0002463
8 malar flattening 60 33 frequent (33%) Occasional (29-5%) HP:0000272
9 pes planus 60 33 frequent (33%) Frequent (79-30%) HP:0001763
10 microcephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000252
11 neoplasm 60 33 frequent (33%) Frequent (79-30%) HP:0002664
12 intrauterine growth retardation 60 33 very rare (1%) Frequent (79-30%) HP:0001511
13 underdeveloped nasal alae 60 33 very rare (1%) Frequent (79-30%) HP:0000430
14 deeply set eye 60 33 very rare (1%) Frequent (79-30%) HP:0000490
15 clinodactyly of the 5th finger 60 33 frequent (33%) Frequent (79-30%) HP:0004209
16 truncus arteriosus 60 33 very rare (1%) Frequent (79-30%) HP:0001660
17 thin upper lip vermilion 60 33 frequent (33%) Frequent (79-30%) HP:0000219
18 pointed chin 60 33 very rare (1%) Frequent (79-30%) HP:0000307
19 abnormality of earlobe 60 33 frequent (33%) Frequent (79-30%) HP:0000363
20 absent toenail 60 33 frequent (33%) Frequent (79-30%) HP:0001802
21 absent fingernail 60 33 frequent (33%) Frequent (79-30%) HP:0001817
22 depressivity 60 33 occasional (7.5%) Occasional (29-5%) HP:0000716
23 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
24 bowel incontinence 60 33 occasional (7.5%) Occasional (29-5%) HP:0002607
25 hyperlordosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0003307
26 inguinal hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000023
27 recurrent respiratory infections 60 33 occasional (7.5%) Occasional (29-5%) HP:0002205
28 bowing of the long bones 60 33 occasional (7.5%) Occasional (29-5%) HP:0006487
29 sensorineural hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000407
30 immunodeficiency 60 33 occasional (7.5%) Occasional (29-5%) HP:0002721
31 cleft palate 60 33 very rare (1%) Occasional (29-5%) HP:0000175
32 coxa valga 60 33 occasional (7.5%) Occasional (29-5%) HP:0002673
33 short palm 60 33 occasional (7.5%) Occasional (29-5%) HP:0004279
34 joint hyperflexibility 60 33 occasional (7.5%) Occasional (29-5%) HP:0005692
35 attention deficit hyperactivity disorder 60 33 occasional (7.5%) Occasional (29-5%) HP:0007018
36 high, narrow palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0002705
37 atrial septal defect 60 33 occasional (7.5%) Occasional (29-5%) HP:0001631
38 prominent nasal bridge 60 33 occasional (7.5%) Occasional (29-5%) HP:0000426
39 arachnodactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001166
40 narrow mouth 60 33 occasional (7.5%) Occasional (29-5%) HP:0000160
41 sandal gap 60 33 occasional (7.5%) Occasional (29-5%) HP:0001852
42 long face 60 33 occasional (7.5%) Occasional (29-5%) HP:0000276
43 choanal atresia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000453
44 ventricular septal defect 60 33 occasional (7.5%) Occasional (29-5%) HP:0001629
45 obsessive-compulsive behavior 60 33 occasional (7.5%) Occasional (29-5%) HP:0000722
46 recurrent urinary tract infections 60 33 occasional (7.5%) Occasional (29-5%) HP:0000010
47 blepharophimosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000581
48 pyloric stenosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002021
49 short distal phalanx of finger 60 33 occasional (7.5%) Occasional (29-5%) HP:0009882
50 camptodactyly of finger 60 33 occasional (7.5%) Occasional (29-5%) HP:0100490

Clinical features from OMIM:

611867

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

27 (show all 39)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.34 BCR MAPK1
2 Decreased viability GR00221-A-1 10.34 MAPK1 CRKL
3 Decreased viability GR00221-A-2 10.34 BCR CRKL
4 Decreased viability GR00221-A-3 10.34 MAPK1
5 Decreased viability GR00221-A-4 10.34 BCR MAPK1 CRKL
6 Decreased viability GR00231-A 10.34 MAPK1
7 Decreased viability GR00301-A 10.34 BCR
8 Decreased viability GR00342-S-1 10.34 MAPK1
9 Decreased viability GR00342-S-2 10.34 MAPK1
10 Decreased viability GR00342-S-3 10.34 BCR MAPK1
11 Decreased viability GR00402-S-2 10.34 BCR MAPK1 CRKL
12 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.77 BCR
13 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.77 MAPK1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.77 BCR
15 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.77 CRKL
16 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.77 BCR
17 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.77 BCR
18 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.77 MAPK1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.77 CRKL
20 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.77 MAPK1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.77 CRKL
22 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.77 MAPK1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.77 BCR
24 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.77 BCR
25 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.77 CRKL MAPK1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.77 MAPK1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.77 MAPK1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.77 BCR
29 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.77 CRKL
30 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.77 BCR
31 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.77 BCR
32 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.77 MAPK1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.77 CRKL
34 Increased shRNA abundance (Z-score > 2) GR00366-A-77 9.77 CRKL
35 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.77 BCR
36 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.77 BCR CRKL MAPK1
37 Decreased substrate adherent cell growth GR00193-A-1 9.46 MAPK1
38 Decreased substrate adherent cell growth GR00193-A-3 9.46 BCR MAPK1
39 Decreased substrate adherent cell growth GR00193-A-4 9.46 MAPK1

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.92 BCR CRKL MAPK1 TBX1

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 30

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

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

42
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:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.67 CRKL MAPK1 TBX1
2 intracellular signal transduction GO:0035556 9.58 BCR CRKL MAPK1
3 animal organ morphogenesis GO:0009887 9.52 CRKL MAPK1
4 anterior/posterior pattern specification GO:0009952 9.51 CRKL TBX1
5 pattern specification process GO:0007389 9.48 CRKL TBX1
6 negative regulation of cell differentiation GO:0045596 9.46 MAPK1 TBX1
7 inner ear morphogenesis GO:0042472 9.43 BCR TBX1
8 heart development GO:0007507 9.43 CRKL MAPK1 TBX1
9 blood vessel development GO:0001568 9.37 CRKL TBX1
10 thyroid gland development GO:0030878 9.32 MAPK1 TBX1
11 outer ear morphogenesis GO:0042473 9.16 MAPK1 TBX1
12 parathyroid gland development GO:0060017 8.96 CRKL TBX1
13 thymus development GO:0048538 8.8 CRKL MAPK1 TBX1

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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
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50 NCI
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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