MCID: CHR596
MIFTS: 17

Chromosome 15q24 Deletion Syndrome Chromosome 15q24 Duplication Syndrome, Included malady

Categories: Neuronal diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Chromosome 15q24 Deletion Syndrome Chromosome 15q24 Duplication...

Aliases & Descriptions for Chromosome 15q24 Deletion Syndrome Chromosome 15q24 Duplication Syndrome, Included:

Name: Chromosome 15q24 Deletion Syndrome Chromosome 15q24 Duplication Syndrome, Included 54
15q24 Microdeletion Syndrome 56
Monosomy 15q24 56
Del(15)(q24) 56

Characteristics:

Orphanet epidemiological data:

56
15q24 microdeletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

HPO:

32
chromosome 15q24 deletion syndrome chromosome 15q24 duplication syndrome, included:
Onset and clinical course phenotypic variability
Inheritance sporadic


Classifications:



External Ids:

OMIM 54 613406
Orphanet 56 ORPHA94065
ICD10 via Orphanet 34 Q93.5

Summaries for Chromosome 15q24 Deletion Syndrome Chromosome 15q24 Duplication...

MalaCards based summary : Chromosome 15q24 Deletion Syndrome Chromosome 15q24 Duplication Syndrome, Included, also known as 15q24 microdeletion syndrome, is related to chromosome 15q24 deletion syndrome and autism spectrum disorder, and has symptoms including hypertelorism, high palate and nystagmus. An important gene associated with Chromosome 15q24 Deletion Syndrome Chromosome 15q24 Duplication Syndrome, Included is SIN3A (SIN3 Transcription Regulator Family Member A). Affiliated tissues include eye.

Description from OMIM: 613406

Related Diseases for Chromosome 15q24 Deletion Syndrome Chromosome 15q24 Duplication...

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

id Related Disease Score Top Affiliating Genes
1 chromosome 15q24 deletion syndrome 11.3
2 autism spectrum disorder 9.9
3 congenital diaphragmatic hernia 9.9

Symptoms & Phenotypes for Chromosome 15q24 Deletion Syndrome Chromosome 15q24 Duplication...

Symptoms by clinical synopsis from OMIM:

613406

Clinical features from OMIM:

613406

Human phenotypes related to Chromosome 15q24 Deletion Syndrome Chromosome 15q24 Duplication Syndrome, Included:

56 32 (show top 50) (show all 104)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 56 32 Very frequent (99-80%) HP:0000316
2 high palate 56 32 Occasional (29-5%) HP:0000218
3 nystagmus 56 32 Occasional (29-5%) HP:0000639
4 intellectual disability 56 32 Very frequent (99-80%) HP:0001249
5 scoliosis 56 32 Frequent (79-30%) HP:0002650
6 inguinal hernia 56 32 Occasional (29-5%) HP:0000023
7 hearing impairment 56 32 Frequent (79-30%) HP:0000365
8 macrotia 56 32 Frequent (79-30%) HP:0000400
9 global developmental delay 56 32 Very frequent (99-80%) HP:0001263
10 wide nasal bridge 56 32 Frequent (79-30%) HP:0000431
11 short nose 56 32 Occasional (29-5%) HP:0003196
12 microcephaly 56 32 Frequent (79-30%) HP:0000252
13 smooth philtrum 56 32 Frequent (79-30%) HP:0000319
14 short stature 56 32 Frequent (79-30%) HP:0004322
15 long philtrum 56 32 Very frequent (99-80%) HP:0000343
16 thick lower lip vermilion 56 32 Very frequent (99-80%) HP:0000179
17 strabismus 56 32 Frequent (79-30%) HP:0000486
18 short palm 56 32 Occasional (29-5%) HP:0004279
19 epicanthus 56 32 Occasional (29-5%) HP:0000286
20 attention deficit hyperactivity disorder 56 32 Occasional (29-5%) HP:0007018
21 growth delay 56 32 Frequent (79-30%) HP:0001510
22 prominent nasal bridge 56 32 Frequent (79-30%) HP:0000426
23 underdeveloped nasal alae 56 32 Occasional (29-5%) HP:0000430
24 microphthalmia 56 32 Occasional (29-5%) HP:0000568
25 intrauterine growth retardation 56 32 Frequent (79-30%) HP:0001511
26 hypospadias 56 32 Frequent (79-30%) HP:0000047
27 deeply set eye 56 32 Occasional (29-5%) HP:0000490
28 narrow face 56 32 Frequent (79-30%) HP:0000275
29 downslanted palpebral fissures 56 32 Frequent (79-30%) HP:0000494
30 narrow mouth 56 32 Very frequent (99-80%) HP:0000160
31 long face 56 32 Frequent (79-30%) HP:0000276
32 facial asymmetry 56 32 Occasional (29-5%) HP:0000324
33 toe syndactyly 56 32 Occasional (29-5%) HP:0001770
34 proximal placement of thumb 56 32 Frequent (79-30%) HP:0009623
35 congenital diaphragmatic hernia 56 32 Occasional (29-5%) HP:0000776
36 high anterior hairline 56 32 Frequent (79-30%) HP:0009890
37 cupped ear 56 32 Frequent (79-30%) HP:0000378
38 short thumb 56 32 Occasional (29-5%) HP:0009778
39 seizures 56 Occasional (29-5%)
40 joint laxity 32 HP:0001388
41 obesity 32 HP:0001513
42 clinodactyly 32 HP:0030084
43 muscular hypotonia 32 HP:0001252
44 sleep disturbance 32 HP:0002360
45 developmental regression 32 HP:0002376
46 widely spaced teeth 32 HP:0000687
47 delayed speech and language development 32 HP:0000750
48 anteverted nares 32 HP:0000463
49 feeding difficulties in infancy 32 HP:0008872
50 immunodeficiency 56 Frequent (79-30%)

Drugs & Therapeutics for Chromosome 15q24 Deletion Syndrome Chromosome 15q24 Duplication...

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

Genetic Tests for Chromosome 15q24 Deletion Syndrome Chromosome 15q24 Duplication...

Anatomical Context for Chromosome 15q24 Deletion Syndrome Chromosome 15q24 Duplication...

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

39
Eye

Publications for Chromosome 15q24 Deletion Syndrome Chromosome 15q24 Duplication...

Variations for Chromosome 15q24 Deletion Syndrome Chromosome 15q24 Duplication...

ClinVar genetic disease variations for Chromosome 15q24 Deletion Syndrome Chromosome 15q24 Duplication Syndrome, Included:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SIN3A NM_001145357.1(SIN3A): c.803dupC (p.Leu269Thrfs) duplication Pathogenic rs879255618 GRCh37 Chromosome 15, 75704038: 75704038
2 SIN3A NM_001145357.1(SIN3A): c.1010_1013delAAGA (p.Lys337Serfs) deletion Pathogenic rs879255619 GRCh38 Chromosome 15, 75410282: 75410285
3 SIN3A NM_001145357.1(SIN3A): c.1759delT (p.Ser587Profs) deletion Pathogenic rs879255620 GRCh38 Chromosome 15, 75400135: 75400135
4 SIN3A NM_001145357.1(SIN3A): c.2955_2956delGA (p.Glu985Aspfs) deletion Pathogenic rs886037847 GRCh37 Chromosome 15, 75682058: 75682059
5 SIN3A NM_001145357.1(SIN3A): c.3310C> T (p.Arg1104Ter) single nucleotide variant Pathogenic rs879255621 GRCh38 Chromosome 15, 75380702: 75380702

Expression for Chromosome 15q24 Deletion Syndrome Chromosome 15q24 Duplication...

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

Pathways for Chromosome 15q24 Deletion Syndrome Chromosome 15q24 Duplication...

GO Terms for Chromosome 15q24 Deletion Syndrome Chromosome 15q24 Duplication...

Sources for Chromosome 15q24 Deletion Syndrome Chromosome 15q24 Duplication...

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