MCID: CHR391
MIFTS: 21

Chromosome 15q24 Deletion Syndrome malady

Categories: Genetic diseases

Aliases & Classifications for Chromosome 15q24 Deletion Syndrome

Aliases & Descriptions 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:



External Ids:

Disease Ontology 12 DOID:0060395
ICD10 33 Q93.5
MeSH 42 C579849

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 chromosome 15q24 deletion syndrome chromosome 15q24 duplication syndrome, included and chromosome 16p12.2-p11.2 deletion syndrome, and has symptoms including seizures, hypertelorism and high palate. An important gene associated with Chromosome 15q24 Deletion Syndrome is RTL1 (Retrotransposon Gag Like 1), and among its related pathways/superpathways is Macrophage Differentiation and Growth Inhibition by METS. Affiliated tissues include eye, and related phenotypes are mortality/aging and nervous system

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 chromosome 15q24 deletion syndrome chromosome 15q24 duplication syndrome, included 12.1
2 chromosome 16p12.2-p11.2 deletion syndrome 8.6 ARID3B CPLX3 CYP11A1 DEL15Q24 HRAS RTL1

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 seizures 32 HP:0001250
2 hypertelorism 32 HP:0000316
3 high palate 32 HP:0000218
4 nystagmus 32 HP:0000639
5 intellectual disability 32 HP:0001249
6 scoliosis 32 HP:0002650
7 inguinal hernia 32 HP:0000023
8 hearing impairment 32 HP:0000365
9 macrotia 32 HP:0000400
10 global developmental delay 32 HP:0001263
11 wide nasal bridge 32 HP:0000431
12 short nose 32 HP:0003196
13 microcephaly 32 HP:0000252
14 smooth philtrum 32 HP:0000319
15 short stature 32 HP:0004322
16 immunodeficiency 32 HP:0002721
17 long philtrum 32 HP:0000343
18 thick lower lip vermilion 32 HP:0000179
19 thick nasal alae 32 HP:0009928
20 strabismus 32 HP:0000486
21 short palm 32 HP:0004279
22 joint hyperflexibility 32 HP:0005692
23 epicanthus 32 HP:0000286
24 toe clinodactyly 32 HP:0001863
25 attention deficit hyperactivity disorder 32 HP:0007018
26 pes cavus 32 HP:0001761
27 hypogonadism 32 HP:0000135
28 prominent nasal bridge 32 HP:0000426
29 underdeveloped nasal alae 32 HP:0000430
30 microphthalmia 32 HP:0000568
31 intrauterine growth retardation 32 HP:0001511
32 hypospadias 32 HP:0000047
33 deeply set eye 32 HP:0000490
34 small hand 32 HP:0200055
35 narrow face 32 HP:0000275
36 downslanted palpebral fissures 32 HP:0000494
37 narrow mouth 32 HP:0000160
38 sandal gap 32 HP:0001852
39 bilateral single transverse palmar creases 32 HP:0007598
40 long face 32 HP:0000276
41 nasal speech 32 HP:0001611
42 hoarse voice 32 HP:0001609
43 insomnia 32 HP:0100785
44 highly arched eyebrow 32 HP:0002553
45 camptodactyly of finger 32 HP:0100490
46 facial asymmetry 32 HP:0000324
47 toe syndactyly 32 HP:0001770
48 proximal placement of thumb 32 HP:0009623
49 congenital diaphragmatic hernia 32 HP:0000776
50 intestinal atresia 32 HP:0011100

MGI Mouse Phenotypes related to Chromosome 15q24 Deletion Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.5 ARID3B CPLX3 CYP11A1 HRAS RTL1 SIN3A
2 nervous system MP:0003631 9.1 SEMA7A STRA6 ARID3B CPLX3 CYP11A1 HRAS

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

Pathways related to Chromosome 15q24 Deletion Syndrome according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
10.34 HRAS SIN3A

GO Terms for Chromosome 15q24 Deletion Syndrome

Sources for Chromosome 15q24 Deletion Syndrome

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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