MCID: 17Q012
MIFTS: 18

17q24.2 Microdeletion Syndrome

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for 17q24.2 Microdeletion Syndrome

MalaCards integrated aliases for 17q24.2 Microdeletion Syndrome:

Name: 17q24.2 Microdeletion Syndrome 58
Del(17)(q24) 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for 17q24.2 Microdeletion Syndrome

MalaCards based summary : 17q24.2 Microdeletion Syndrome, also known as del(17)(q24), is related to non-specific syndromic intellectual disability. An important gene associated with 17q24.2 Microdeletion Syndrome is BPTF (Bromodomain PHD Finger Transcription Factor). 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

Diseases related to 17q24.2 Microdeletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 non-specific syndromic intellectual disability 9.2 PSMD12 BPTF

Symptoms & Phenotypes for 17q24.2 Microdeletion Syndrome

Human phenotypes related to 17q24.2 Microdeletion Syndrome:

58 31 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
2 intellectual disability, mild 58 31 hallmark (90%) Very frequent (99-80%) HP:0001256
3 truncal obesity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001956
4 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
5 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
6 seizures 58 31 frequent (33%) Frequent (79-30%) HP:0001250
7 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
8 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
9 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
10 microtia 58 31 frequent (33%) Frequent (79-30%) HP:0008551
11 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
12 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
13 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
14 thick eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0000574
15 midface retrusion 58 31 frequent (33%) Frequent (79-30%) HP:0011800
16 short philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000322
17 upper limb undergrowth 58 31 frequent (33%) Frequent (79-30%) HP:0009824
18 cubitus valgus 58 31 frequent (33%) Frequent (79-30%) HP:0002967
19 recurrent otitis media 58 31 frequent (33%) Frequent (79-30%) HP:0000403
20 broad neck 58 31 frequent (33%) Frequent (79-30%) HP:0000475
21 anxiety 58 31 frequent (33%) Frequent (79-30%) HP:0000739
22 failure to thrive in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0001531
23 myopia 58 31 frequent (33%) Frequent (79-30%) HP:0000545
24 deeply set eye 58 31 frequent (33%) Frequent (79-30%) HP:0000490
25 thin upper lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0000219
26 synophrys 58 31 frequent (33%) Frequent (79-30%) HP:0000664
27 abnormality of the ankles 58 31 frequent (33%) Frequent (79-30%) HP:0003028
28 triangular face 58 31 frequent (33%) Frequent (79-30%) HP:0000325
29 misalignment of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000692
30 abnormality of the wrist 58 31 frequent (33%) Frequent (79-30%) HP:0003019
31 generalized neonatal hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0008935
32 impaired visuospatial constructive cognition 58 31 frequent (33%) Frequent (79-30%) HP:0010794
33 progressive conductive hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0008607
34 hallucinations 58 31 occasional (7.5%) Occasional (29-5%) HP:0000738
35 broad thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0011304
36 secondary amenorrhea 58 31 occasional (7.5%) Occasional (29-5%) HP:0000869
37 prolonged qt interval 58 31 occasional (7.5%) Occasional (29-5%) HP:0001657
38 aggressive behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000718
39 otosclerosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000362
40 patent ductus arteriosus after birth at term 58 31 occasional (7.5%) Occasional (29-5%) HP:0011648
41 mood swings 58 31 occasional (7.5%) Occasional (29-5%) HP:0000720
42 hemihypotrophy of lower limb 58 31 occasional (7.5%) Occasional (29-5%) HP:0200053
43 vesicoureteral reflux 58 31 very rare (1%) Very rare (<4-1%) HP:0000076
44 pulmonic stenosis 58 31 very rare (1%) Very rare (<4-1%) HP:0001642
45 pineal cyst 58 31 very rare (1%) Very rare (<4-1%) HP:0012683
46 behavioral abnormality 58 Frequent (79-30%)
47 growth hormone deficiency 58 Excluded (0%)

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

26 (show all 21)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.96 BPTF
2 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.96 PSMD12
3 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.96 PSMD12
4 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.96 BPTF
5 Increased shRNA abundance (Z-score > 2) GR00366-A-173 9.96 PSMD12
6 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.96 BPTF PSMD12
7 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.96 BPTF
8 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.96 BPTF
9 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.96 PSMD12
10 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.96 PSMD12
11 Increased shRNA abundance (Z-score > 2) GR00366-A-201 9.96 PSMD12
12 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.96 BPTF
13 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.96 BPTF
14 Increased shRNA abundance (Z-score > 2) GR00366-A-36 9.96 BPTF
15 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.96 BPTF
16 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.96 PSMD12
17 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.96 BPTF
18 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.96 PSMD12
19 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.96 PSMD12
20 Decreased viability of wild-type and TP53 knockout cells, decreased TP53 protein expression ratio (wild-type / TP53 knockout cells) GR00196-A-1 9.16 BPTF PSMD12
21 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:

40
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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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