MCID: CHR346
MIFTS: 35

Chromosome 22q11.2 Deletion Syndrome, Distal malady

Categories: Genetic diseases, Fetal diseases, Rare diseases

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

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

Name: Chromosome 22q11.2 Deletion Syndrome, Distal 54 12 13 14
Chromosome 22q11.2 Deletion Syndrome Distal 39 29
Distal 22q11.2 Microdeletion Syndrome 12 56
22q11.2 Distal Deletion Syndrome 39 24
Distal Monosomy 22q11.2 56
Distal Del(22)(q11.2) 56

Classifications:



External Ids:

OMIM 54 611867
Disease Ontology 12 DOID:0060413
Orphanet 56 ORPHA261330
ICD10 via Orphanet 34 Q93.5

Summaries for Chromosome 22q11.2 Deletion Syndrome, Distal

MalaCards based summary : Chromosome 22q11.2 Deletion Syndrome, Distal, also known as chromosome 22q11.2 deletion syndrome distal, is related to peroxisome biogenesis disorder 7a and polymicrogyria, symmetric or asymmetric, and has symptoms including seizures, malar flattening and depression. 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 ErbB signaling pathway. Affiliated tissues include bone and eye, and related phenotypes are Decreased viability and hearing/vestibular/ear

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:

id Related Disease Score Top Affiliating Genes
1 peroxisome biogenesis disorder 7a 9.8 BCR CRKL
2 polymicrogyria, symmetric or asymmetric 9.8 CRKL MAPK1
3 adult acute lymphocytic leukemia 9.7 BCR CRKL
4 polyarteritis nodosa, childhood-onset 9.4 BCR CRKL DEL22Q11.2 MAPK1

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

Clinical features from OMIM:

611867

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

56 32 (show top 50) (show all 64)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Occasional (29-5%) HP:0001250
2 malar flattening 56 32 Occasional (29-5%) HP:0000272
3 depression 56 32 Occasional (29-5%) HP:0000716
4 intellectual disability 56 32 Very frequent (99-80%) HP:0001249
5 bowel incontinence 56 32 Occasional (29-5%) HP:0002607
6 hyperlordosis 56 32 Occasional (29-5%) HP:0003307
7 inguinal hernia 56 32 Occasional (29-5%) HP:0000023
8 global developmental delay 56 32 Very frequent (99-80%) HP:0001263
9 recurrent respiratory infections 56 32 Occasional (29-5%) HP:0002205
10 bowing of the long bones 56 32 Occasional (29-5%) HP:0006487
11 pes planus 56 32 Frequent (79-30%) HP:0001763
12 microcephaly 56 32 Frequent (79-30%) HP:0000252
13 smooth philtrum 56 32 Very frequent (99-80%) HP:0000319
14 sensorineural hearing impairment 56 32 Occasional (29-5%) HP:0000407
15 short stature 56 32 Very frequent (99-80%) HP:0004322
16 immunodeficiency 56 32 Occasional (29-5%) HP:0002721
17 cleft palate 56 32 Occasional (29-5%) HP:0000175
18 neoplasm 56 32 Frequent (79-30%) HP:0002664
19 coxa valga 56 32 Occasional (29-5%) HP:0002673
20 short palm 56 32 Occasional (29-5%) HP:0004279
21 joint hyperflexibility 56 32 Occasional (29-5%) HP:0005692
22 attention deficit hyperactivity disorder 56 32 Occasional (29-5%) HP:0007018
23 high, narrow palate 56 32 Occasional (29-5%) HP:0002705
24 prominent nasal bridge 56 32 Occasional (29-5%) HP:0000426
25 underdeveloped nasal alae 56 32 Frequent (79-30%) HP:0000430
26 intrauterine growth retardation 56 32 Frequent (79-30%) HP:0001511
27 deeply set eye 56 32 Frequent (79-30%) HP:0000490
28 clinodactyly of the 5th finger 56 32 Frequent (79-30%) HP:0004209
29 arachnodactyly 56 32 Occasional (29-5%) HP:0001166
30 narrow mouth 56 32 Occasional (29-5%) HP:0000160
31 sandal gap 56 32 Occasional (29-5%) HP:0001852
32 long face 56 32 Occasional (29-5%) HP:0000276
33 choanal atresia 56 32 Occasional (29-5%) HP:0000453
34 ventricular septal defect 56 32 Occasional (29-5%) HP:0001629
35 truncus arteriosus 56 32 Frequent (79-30%) HP:0001660
36 thin upper lip vermilion 56 32 Frequent (79-30%) HP:0000219
37 obsessive-compulsive behavior 56 32 Occasional (29-5%) HP:0000722
38 recurrent urinary tract infections 56 32 Occasional (29-5%) HP:0000010
39 pointed chin 56 32 Frequent (79-30%) HP:0000307
40 blepharophimosis 56 32 Occasional (29-5%) HP:0000581
41 highly arched eyebrow 56 32 Very frequent (99-80%) HP:0002553
42 pyloric stenosis 56 32 Occasional (29-5%) HP:0002021
43 short distal phalanx of finger 56 32 Occasional (29-5%) HP:0009882
44 camptodactyly of finger 56 32 Occasional (29-5%) HP:0100490
45 facial asymmetry 56 32 Occasional (29-5%) HP:0000324
46 toe syndactyly 56 32 Occasional (29-5%) HP:0001770
47 ulnar deviation of finger 56 32 Occasional (29-5%) HP:0009465
48 abnormality of earlobe 56 32 Frequent (79-30%) HP:0000363
49 branchial fistula 56 32 Occasional (29-5%) HP:0009795
50 premature birth 56 32 Very frequent (99-80%) HP:0001622

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

26
id 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 MAPK1 CRKL
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 MAPK1 CRKL
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 BCR CRKL MAPK1
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:

44
id 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:

id Genetic test Affiliating Genes
1 Chromosome 22q11.2 Deletion Syndrome, Distal 29
2 22q11.2 Distal Deletion Syndrome 24

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

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

39
Bone, Eye

Publications for Chromosome 22q11.2 Deletion Syndrome, Distal

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 13)
id Super pathways Score Top Affiliating Genes
1 11.93 BCR CRKL MAPK1
2
Show member pathways
11.84 CRKL MAPK1
3 11.73 CRKL MAPK1
4
Show member pathways
11.7 CRKL MAPK1
5 11.63 BCR CRKL
6
Show member pathways
11.58 CRKL MAPK1
7
Show member pathways
11.39 CRKL MAPK1
8 11.33 CRKL MAPK1
9
Show member pathways
11.17 BCR MAPK1
10 11.13 CRKL MAPK1
11
Show member pathways
11.04 CRKL MAPK1
12
Show member pathways
10.97 CRKL MAPK1
13
Show member pathways
10.95 BCR 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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 phosphotyrosine 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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