MCID: 17Q012
MIFTS: 20

17q24.2 Microdeletion Syndrome

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for 17q24.2 Microdeletion Syndrome

Summaries for 17q24.2 Microdeletion Syndrome

MalaCards based summary : 17q24.2 Microdeletion Syndrome, is also known as del(17)(q24). An important gene associated with 17q24.2 Microdeletion Syndrome is PSMD12 (Proteasome 26S Subunit, Non-ATPase 12). Affiliated tissues include eye and pineal, and related phenotypes are delayed speech and language development and intellectual disability, mild

Related Diseases for 17q24.2 Microdeletion Syndrome

Symptoms & Phenotypes for 17q24.2 Microdeletion Syndrome

Human phenotypes related to 17q24.2 Microdeletion Syndrome:

60 33 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed speech and language development 60 33 hallmark (90%) Very frequent (99-80%) HP:0000750
2 intellectual disability, mild 60 33 hallmark (90%) Very frequent (99-80%) HP:0001256
3 truncal obesity 60 33 hallmark (90%) Very frequent (99-80%) HP:0001956
4 hypertelorism 60 33 frequent (33%) Frequent (79-30%) HP:0000316
5 short neck 60 33 frequent (33%) Frequent (79-30%) HP:0000470
6 ptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000508
7 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
8 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
9 wide nasal bridge 60 33 frequent (33%) Frequent (79-30%) HP:0000431
10 microtia 60 33 frequent (33%) Frequent (79-30%) HP:0008551
11 thick eyebrow 60 33 frequent (33%) Frequent (79-30%) HP:0000574
12 micrognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000347
13 feeding difficulties 60 33 frequent (33%) Frequent (79-30%) HP:0011968
14 upper limb undergrowth 60 33 frequent (33%) Frequent (79-30%) HP:0009824
15 cubitus valgus 60 33 frequent (33%) Frequent (79-30%) HP:0002967
16 recurrent otitis media 60 33 frequent (33%) Frequent (79-30%) HP:0000403
17 broad neck 60 33 frequent (33%) Frequent (79-30%) HP:0000475
18 anxiety 60 33 frequent (33%) Frequent (79-30%) HP:0000739
19 failure to thrive in infancy 60 33 frequent (33%) Frequent (79-30%) HP:0001531
20 myopia 60 33 frequent (33%) Frequent (79-30%) HP:0000545
21 short philtrum 60 33 frequent (33%) Frequent (79-30%) HP:0000322
22 deeply set eye 60 33 frequent (33%) Frequent (79-30%) HP:0000490
23 downslanted palpebral fissures 60 33 frequent (33%) Frequent (79-30%) HP:0000494
24 thin upper lip vermilion 60 33 frequent (33%) Frequent (79-30%) HP:0000219
25 abnormality of the ankles 60 33 frequent (33%) Frequent (79-30%) HP:0003028
26 midface retrusion 60 33 frequent (33%) Frequent (79-30%) HP:0011800
27 triangular face 60 33 frequent (33%) Frequent (79-30%) HP:0000325
28 synophrys 60 33 frequent (33%) Frequent (79-30%) HP:0000664
29 misalignment of teeth 60 33 frequent (33%) Frequent (79-30%) HP:0000692
30 abnormality of the wrist 60 33 frequent (33%) Frequent (79-30%) HP:0003019
31 generalized neonatal hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0008935
32 impaired visuospatial constructive cognition 60 33 frequent (33%) Frequent (79-30%) HP:0010794
33 progressive conductive hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0008607
34 hallucinations 60 33 occasional (7.5%) Occasional (29-5%) HP:0000738
35 broad thumb 60 33 occasional (7.5%) Occasional (29-5%) HP:0011304
36 secondary amenorrhea 60 33 occasional (7.5%) Occasional (29-5%) HP:0000869
37 prolonged qt interval 60 33 occasional (7.5%) Occasional (29-5%) HP:0001657
38 aggressive behavior 60 33 occasional (7.5%) Occasional (29-5%) HP:0000718
39 otosclerosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000362
40 patent ductus arteriosus after birth at term 60 33 occasional (7.5%) Occasional (29-5%) HP:0011648
41 mood swings 60 33 occasional (7.5%) Occasional (29-5%) HP:0000720
42 hemihypotrophy of lower limb 60 33 occasional (7.5%) Occasional (29-5%) HP:0200053
43 vesicoureteral reflux 60 33 very rare (1%) Very rare (<4-1%) HP:0000076
44 pulmonic stenosis 60 33 very rare (1%) Very rare (<4-1%) HP:0001642
45 pineal cyst 60 33 very rare (1%) Very rare (<4-1%) HP:0012683
46 behavioral abnormality 60 Frequent (79-30%)
47 growth hormone deficiency 60 Excluded (0%)

GenomeRNAi Phenotypes related to 17q24.2 Microdeletion Syndrome according to GeneCards Suite gene sharing:

27 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 9.81 BPTF
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.81 BPTF
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-15 9.81 PSMD12
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.81 PSMD12
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 9.81 BPTF PSMD12
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.81 PSMD12
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-212 9.81 BPTF
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.81 BPTF
9 Decreased ionizing radiation sensitivity GR00232-A-1 9.26 BPTF PSMD12
10 Decreased viability of wild-type and TP53 knockout cells GR00196-A-1 8.96 BPTF PSMD12
11 Reduced mammosphere formation GR00396-S 8.62 BPTF PSMD12

Drugs & Therapeutics for 17q24.2 Microdeletion Syndrome

Search Clinical Trials , NIH Clinical Center for 17q24.2 Microdeletion Syndrome

Genetic Tests for 17q24.2 Microdeletion Syndrome

Anatomical Context for 17q24.2 Microdeletion Syndrome

MalaCards organs/tissues related to 17q24.2 Microdeletion Syndrome:

42
Eye, Pineal

Publications for 17q24.2 Microdeletion Syndrome

Variations for 17q24.2 Microdeletion Syndrome

Expression for 17q24.2 Microdeletion Syndrome

Search GEO for disease gene expression data for 17q24.2 Microdeletion Syndrome.

Pathways for 17q24.2 Microdeletion Syndrome

GO Terms for 17q24.2 Microdeletion Syndrome

Sources for 17q24.2 Microdeletion Syndrome

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