MCID: CHR391
MIFTS: 24

Chromosome 15q24 Deletion Syndrome

Categories: Genetic diseases

Aliases & Classifications for Chromosome 15q24 Deletion Syndrome

MalaCards integrated aliases for Chromosome 15q24 Deletion Syndrome:

Name: Chromosome 15q24 Deletion Syndrome 12 13 14 69
15q24 Microdeletion Syndrome 12 23 24 25
15q24 Microdeletion 25 42
Interstitial Deletion of Chromosome 15q24 25
15q24 Deletion 25

Characteristics:

GeneReviews:

23
Penetrance Penetrance is 100%: clinical features of 15q24 microdeletion syndrome are apparent in all individuals with the microdeletion, although the extent and severity of clinical findings vary among individuals...

Classifications:



Summaries for Chromosome 15q24 Deletion Syndrome

Genetics Home Reference : 25 15q24 microdeletion is a chromosomal change in which a small piece of chromosome 15 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated q24.

MalaCards based summary : Chromosome 15q24 Deletion Syndrome, also known as 15q24 microdeletion syndrome, is related to witteveen-kolk syndrome and autism spectrum disorder, and has symptoms including short stature, scoliosis and nystagmus. An important gene associated with Chromosome 15q24 Deletion Syndrome is RTL1 (Retrotransposon Gag Like 1). Affiliated tissues include eye, and related phenotype is mortality/aging.

GeneReviews: NBK84258

Related Diseases for Chromosome 15q24 Deletion Syndrome

Diseases related to Chromosome 15q24 Deletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 witteveen-kolk syndrome 11.0
2 autism spectrum disorder 9.9
3 congenital diaphragmatic hernia 9.9
4 common variable immunodeficiency 9.8
5 chromosome 16p12.2-p11.2 deletion syndrome 5.8 ARID3B CPLX3 CYP11A1 DEL15Q24 DYNC1H1 FTSJ1

Graphical network of the top 20 diseases related to Chromosome 15q24 Deletion Syndrome:



Diseases related to Chromosome 15q24 Deletion Syndrome

Symptoms & Phenotypes for Chromosome 15q24 Deletion Syndrome

Human phenotypes related to Chromosome 15q24 Deletion Syndrome:

32 (show top 50) (show all 58)
id Description HPO Frequency HPO Source Accession
1 short stature 32 frequent (33%) HP:0004322
2 scoliosis 32 frequent (33%) HP:0002650
3 nystagmus 32 occasional (7.5%) HP:0000639
4 strabismus 32 frequent (33%) HP:0000486
5 seizures 32 occasional (7.5%) HP:0001250
6 microcephaly 32 frequent (33%) HP:0000252
7 long face 32 frequent (33%) HP:0000276
8 hypertelorism 32 hallmark (90%) HP:0000316
9 intrauterine growth retardation 32 frequent (33%) HP:0001511
10 hypospadias 32 frequent (33%) HP:0000047
11 microphthalmia 32 occasional (7.5%) HP:0000568
12 short nose 32 occasional (7.5%) HP:0003196
13 global developmental delay 32 hallmark (90%) HP:0001263
14 inguinal hernia 32 occasional (7.5%) HP:0000023
15 intellectual disability 32 hallmark (90%) HP:0001249
16 pes cavus 32 occasional (7.5%) HP:0001761
17 immunodeficiency 32 frequent (33%) HP:0002721
18 long philtrum 32 hallmark (90%) HP:0000343
19 wide nasal bridge 32 frequent (33%) HP:0000431
20 toe syndactyly 32 occasional (7.5%) HP:0001770
21 hypogonadism 32 frequent (33%) HP:0000135
22 narrow face 32 frequent (33%) HP:0000275
23 downslanted palpebral fissures 32 frequent (33%) HP:0000494
24 intestinal atresia 32 frequent (33%) HP:0011100
25 thick nasal alae 32 frequent (33%) HP:0009928
26 high palate 32 occasional (7.5%) HP:0000218
27 joint hyperflexibility 32 frequent (33%) HP:0005692
28 smooth philtrum 32 frequent (33%) HP:0000319
29 facial asymmetry 32 occasional (7.5%) HP:0000324
30 epicanthus 32 occasional (7.5%) HP:0000286
31 sandal gap 32 occasional (7.5%) HP:0001852
32 high anterior hairline 32 frequent (33%) HP:0009890
33 nasal speech 32 occasional (7.5%) HP:0001611
34 insomnia 32 occasional (7.5%) HP:0100785
35 short thumb 32 occasional (7.5%) HP:0009778
36 prominent nasal bridge 32 frequent (33%) HP:0000426
37 hoarse voice 32 occasional (7.5%) HP:0001609
38 congenital diaphragmatic hernia 32 occasional (7.5%) HP:0000776
39 hearing impairment 32 frequent (33%) HP:0000365
40 thick hair 32 occasional (7.5%) HP:0100874
41 thick lower lip vermilion 32 hallmark (90%) HP:0000179
42 attention deficit hyperactivity disorder 32 occasional (7.5%) HP:0007018
43 macrotia 32 frequent (33%) HP:0000400
44 deep plantar creases 32 occasional (7.5%) HP:0001869
45 narrow mouth 32 hallmark (90%) HP:0000160
46 small hand 32 occasional (7.5%) HP:0200055
47 bilateral single transverse palmar creases 32 frequent (33%) HP:0007598
48 short palm 32 occasional (7.5%) HP:0004279
49 toe clinodactyly 32 occasional (7.5%) HP:0001863
50 underdeveloped nasal alae 32 occasional (7.5%) HP:0000430

MGI Mouse Phenotypes related to Chromosome 15q24 Deletion Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.23 ARID3B CPLX3 CYP11A1 DYNC1H1 RTL1 SETBP1

Drugs & Therapeutics for Chromosome 15q24 Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 15q24 Deletion Syndrome

Cochrane evidence based reviews: 15q24 microdeletion

Genetic Tests for Chromosome 15q24 Deletion Syndrome

Genetic tests related to Chromosome 15q24 Deletion Syndrome:

id Genetic test Affiliating Genes
1 15q24 Microdeletion Syndrome 24

Anatomical Context for Chromosome 15q24 Deletion Syndrome

MalaCards organs/tissues related to Chromosome 15q24 Deletion Syndrome:

39
Eye

Publications for Chromosome 15q24 Deletion Syndrome

Variations for Chromosome 15q24 Deletion Syndrome

Copy number variations for Chromosome 15q24 Deletion Syndrome from CNVD:

7 (show all 17)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 94771 15 70400000 76100000 Microdeletion 15q24 microdeletion syndrome
2 94772 15 70400000 76100000 Microdeletion 15q24 microdeletion syndrome
3 94773 15 70400000 76100000 Microdeletion 15q24 microdeletion syndrome
4 94776 15 70400000 76100000 Microdeletion ARID3B 15q24 microdeletion syndrome
5 94777 15 70400000 76100000 Microdeletion COMMD4 15q24 microdeletion syndrome
6 94778 15 70400000 76100000 Microdeletion CPLX3 15q24 microdeletion syndrome
7 94779 15 70400000 76100000 Microdeletion CSK 15q24 microdeletion syndrome
8 94780 15 70400000 76100000 Microdeletion CYP11A1 15q24 microdeletion syndrome
9 94781 15 70400000 76100000 Microdeletion CYP1A1 15q24 microdeletion syndrome
10 94782 15 70400000 76100000 Microdeletion MAN2C1 15q24 microdeletion syndrome
11 94783 15 70400000 76100000 Microdeletion NEIL1 15q24 microdeletion syndrome
12 94784 15 70400000 76100000 Microdeletion PTPN9 15q24 microdeletion syndrome
13 94785 15 70400000 76100000 Microdeletion SEMA7A 15q24 microdeletion syndrome
14 94786 15 70400000 76100000 Microdeletion SEMA7A 15q24 microdeletion syndrome
15 94787 15 70400000 76100000 Microdeletion SIN3A 15q24 microdeletion syndrome
16 94788 15 70400000 76100000 Microdeletion SIN3A 15q24 microdeletion syndrome
17 94789 15 70400000 76100000 Microdeletion STRA6 15q24 microdeletion syndrome

Expression for Chromosome 15q24 Deletion Syndrome

Search GEO for disease gene expression data for Chromosome 15q24 Deletion Syndrome.

Pathways for Chromosome 15q24 Deletion Syndrome

GO Terms for Chromosome 15q24 Deletion Syndrome

Sources for Chromosome 15q24 Deletion Syndrome

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7 CNVD
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10 dbSNP
11 DGIdb
16 ExPASy
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65 SNOMED-CT via HPO
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70 UMLS via Orphanet
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