MCID: CHR346
MIFTS: 37

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 57 12 29 13 15 73
Distal 22q11.2 Microdeletion Syndrome 12 59
Distal Chromosome 22q11.2 Deletion Syndrome 57
Chromosome 22q11.2 Deletion Syndrome Distal 41
22q11.2 Distal Deletion Syndrome 41
Distal Monosomy 22q11.2 59
Distal Del(22)(q11.2) 59

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. 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 MET promotes cell motility. Affiliated tissues include bone and eye, and related phenotypes are malar flattening and depressivity

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 9.1 CRKL MAPK1
2 leukemia, chronic myeloid 9.0 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:

59 32 (show top 50) (show all 63)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 59 32 frequent (33%) Occasional (29-5%) HP:0000272
2 depressivity 59 32 occasional (7.5%) Occasional (29-5%) HP:0000716
3 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
4 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
5 bowel incontinence 59 32 occasional (7.5%) Occasional (29-5%) HP:0002607
6 hyperlordosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0003307
7 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
8 global developmental delay 59 32 very rare (1%) Very frequent (99-80%) HP:0001263
9 recurrent respiratory infections 59 32 occasional (7.5%) Occasional (29-5%) HP:0002205
10 bowing of the long bones 59 32 occasional (7.5%) Occasional (29-5%) HP:0006487
11 pes planus 59 32 frequent (33%) Frequent (79-30%) HP:0001763
12 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
13 smooth philtrum 59 32 very rare (1%) Very frequent (99-80%) HP:0000319
14 sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000407
15 short stature 59 32 frequent (33%) Very frequent (99-80%) HP:0004322
16 immunodeficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0002721
17 cleft palate 59 32 very rare (1%) Occasional (29-5%) HP:0000175
18 neoplasm 59 32 frequent (33%) Frequent (79-30%) HP:0002664
19 coxa valga 59 32 occasional (7.5%) Occasional (29-5%) HP:0002673
20 short palm 59 32 occasional (7.5%) Occasional (29-5%) HP:0004279
21 joint hyperflexibility 59 32 occasional (7.5%) Occasional (29-5%) HP:0005692
22 attention deficit hyperactivity disorder 59 32 occasional (7.5%) Occasional (29-5%) HP:0007018
23 intrauterine growth retardation 59 32 very rare (1%) Frequent (79-30%) HP:0001511
24 high, narrow palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0002705
25 atrial septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001631
26 prominent nasal bridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0000426
27 underdeveloped nasal alae 59 32 very rare (1%) Frequent (79-30%) HP:0000430
28 deeply set eye 59 32 very rare (1%) Frequent (79-30%) HP:0000490
29 clinodactyly of the 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0004209
30 arachnodactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001166
31 narrow mouth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000160
32 sandal gap 59 32 occasional (7.5%) Occasional (29-5%) HP:0001852
33 long face 59 32 occasional (7.5%) Occasional (29-5%) HP:0000276
34 choanal atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000453
35 ventricular septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001629
36 truncus arteriosus 59 32 very rare (1%) Frequent (79-30%) HP:0001660
37 thin upper lip vermilion 59 32 frequent (33%) Frequent (79-30%) HP:0000219
38 obsessive-compulsive behavior 59 32 occasional (7.5%) Occasional (29-5%) HP:0000722
39 recurrent urinary tract infections 59 32 occasional (7.5%) Occasional (29-5%) HP:0000010
40 pointed chin 59 32 very rare (1%) Frequent (79-30%) HP:0000307
41 blepharophimosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000581
42 highly arched eyebrow 59 32 very rare (1%) Very frequent (99-80%) HP:0002553
43 pyloric stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002021
44 short distal phalanx of finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0009882
45 camptodactyly of finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0100490
46 facial asymmetry 59 32 occasional (7.5%) Occasional (29-5%) HP:0000324
47 toe syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001770
48 ulnar deviation of finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0009465
49 abnormality of earlobe 59 32 frequent (33%) Frequent (79-30%) HP:0000363
50 premature birth 59 32 hallmark (90%) Very frequent (99-80%) HP:0001622

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

26 (show all 38)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.34 MAPK1 BCR
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 MAPK1 BCR 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 MAPK1 BCR
11 Decreased viability GR00402-S-2 10.34 MAPK1 BCR CRKL
12 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.75 BCR
13 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.75 MAPK1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.75 BCR
15 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.75 CRKL
16 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.75 BCR
17 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.75 BCR
18 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.75 MAPK1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.75 CRKL
20 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.75 MAPK1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.75 CRKL
22 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.75 MAPK1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.75 BCR
24 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.75 BCR
25 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.75 MAPK1 CRKL
26 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.75 MAPK1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.75 MAPK1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.75 BCR
29 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.75 CRKL
30 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.75 BCR
31 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.75 BCR
32 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.75 MAPK1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.75 CRKL
34 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.75 BCR
35 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.75 BCR CRKL MAPK1
36 Decreased substrate adherent cell growth GR00193-A-1 9.46 MAPK1
37 Decreased substrate adherent cell growth GR00193-A-3 9.46 BCR MAPK1
38 Decreased substrate adherent cell growth GR00193-A-4 9.46 MAPK1

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

46
# 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 29

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

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

41
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

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

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.18 BCR CRKL MAPK1
2
Show member pathways
11.86 CRKL MAPK1
3 11.85 BCR CRKL MAPK1
4 11.71 CRKL MAPK1
5
Show member pathways
11.68 CRKL MAPK1
6 11.63 BCR CRKL
7
Show member pathways
11.56 CRKL MAPK1
8
Show member pathways
11.35 CRKL MAPK1
9 11.28 CRKL MAPK1
10
Show member pathways
11.14 BCR MAPK1
11 10.97 CRKL MAPK1
12
Show member pathways
10.41 CRKL MAPK1

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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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