MCID: 17Q012
MIFTS: 14

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 59
Del(17)(q24) 59

Classifications:



External Ids:

Orphanet 59 ORPHA529962

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 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

Symptoms & Phenotypes for 17q24.2 Microdeletion Syndrome

Human phenotypes related to 17q24.2 Microdeletion Syndrome:

59 32 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed speech and language development 59 32 hallmark (90%) Very frequent (99-80%) HP:0000750
2 intellectual disability, mild 59 32 hallmark (90%) Very frequent (99-80%) HP:0001256
3 truncal obesity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001956
4 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
5 short neck 59 32 frequent (33%) Frequent (79-30%) HP:0000470
6 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
7 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
8 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
9 wide nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000431
10 microtia 59 32 frequent (33%) Frequent (79-30%) HP:0008551
11 thick eyebrow 59 32 frequent (33%) Frequent (79-30%) HP:0000574
12 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
13 short philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000322
14 feeding difficulties 59 32 frequent (33%) Frequent (79-30%) HP:0011968
15 upper limb undergrowth 59 32 frequent (33%) Frequent (79-30%) HP:0009824
16 cubitus valgus 59 32 frequent (33%) Frequent (79-30%) HP:0002967
17 recurrent otitis media 59 32 frequent (33%) Frequent (79-30%) HP:0000403
18 broad neck 59 32 frequent (33%) Frequent (79-30%) HP:0000475
19 anxiety 59 32 frequent (33%) Frequent (79-30%) HP:0000739
20 failure to thrive in infancy 59 32 frequent (33%) Frequent (79-30%) HP:0001531
21 myopia 59 32 frequent (33%) Frequent (79-30%) HP:0000545
22 deeply set eye 59 32 frequent (33%) Frequent (79-30%) HP:0000490
23 downslanted palpebral fissures 59 32 frequent (33%) Frequent (79-30%) HP:0000494
24 thin upper lip vermilion 59 32 frequent (33%) Frequent (79-30%) HP:0000219
25 abnormality of the ankles 59 32 frequent (33%) Frequent (79-30%) HP:0003028
26 midface retrusion 59 32 frequent (33%) Frequent (79-30%) HP:0011800
27 triangular face 59 32 frequent (33%) Frequent (79-30%) HP:0000325
28 synophrys 59 32 frequent (33%) Frequent (79-30%) HP:0000664
29 misalignment of teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000692
30 abnormality of the wrist 59 32 frequent (33%) Frequent (79-30%) HP:0003019
31 generalized neonatal hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0008935
32 impaired visuospatial constructive cognition 59 32 frequent (33%) Frequent (79-30%) HP:0010794
33 progressive conductive hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0008607
34 hallucinations 59 32 occasional (7.5%) Occasional (29-5%) HP:0000738
35 broad thumb 59 32 occasional (7.5%) Occasional (29-5%) HP:0011304
36 secondary amenorrhea 59 32 occasional (7.5%) Occasional (29-5%) HP:0000869
37 prolonged qt interval 59 32 occasional (7.5%) Occasional (29-5%) HP:0001657
38 aggressive behavior 59 32 occasional (7.5%) Occasional (29-5%) HP:0000718
39 otosclerosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000362
40 patent ductus arteriosus after birth at term 59 32 occasional (7.5%) Occasional (29-5%) HP:0011648
41 mood swings 59 32 occasional (7.5%) Occasional (29-5%) HP:0000720
42 hemihypotrophy of lower limb 59 32 occasional (7.5%) Occasional (29-5%) HP:0200053
43 vesicoureteral reflux 59 32 very rare (1%) Very rare (<4-1%) HP:0000076
44 pulmonic stenosis 59 32 very rare (1%) Very rare (<4-1%) HP:0001642
45 pineal cyst 59 32 very rare (1%) Very rare (<4-1%) HP:0012683
46 behavioral abnormality 59 Frequent (79-30%)
47 growth hormone deficiency 59 Excluded (0%)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased ionizing radiation sensitivity GR00232-A-1 8.96 BPTF PSMD12
2 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:

41
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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10 dbSNP
11 DGIdb
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18 ExPASy
19 FMA
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30 HGMD
31 HMDB
32 HPO
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34 ICD10 via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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