MCID: CHR391
MIFTS: 34

Chromosome 15q24 Deletion Syndrome

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Chromosome 15q24 Deletion Syndrome

MalaCards integrated aliases for Chromosome 15q24 Deletion Syndrome:

Name: Chromosome 15q24 Deletion Syndrome 12 13 15 73
15q24 Microdeletion Syndrome 12 24 53 25
15q24 Microdeletion 25 44
Interstitial Deletion of Chromosome 15q24 25
Monosomy 15q24 53
15q24 Deletion 25
Del(15)(q24) 53

Characteristics:

GeneReviews:

24
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

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 94065Disease definition15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies.EpidemiologyThe prevalence of 15q24 deletion syndrome is unknown. To date, 19 cases with clinical data and detailed mapping of genomic breakpoints have been reported.Clinical descriptionAt birth, approximately 1/3 of patients have low birth weight consistent with intrauterine growth retardation. Feeding difficulties and failure to thrive are reported in about 20%. In later childhood, 30% show growth retardation and short stature and 17% obesity. Growth hormone (GH) deficiency may be present. Growth delay, feeding difficulties, and distinct facial features (long face with high anterior hairline, epicanthal folds, hypertelorism, downslanting palpebral fissures, sparse and broad medial eyebrows, broad and/or depressed nasal bridge, long smooth philtrum, and small mouth with full lower lip) are the most common early presenting symptoms. Most patients (90%) have digital deformities (proximally implanted and/or hypoplastic thumbs, clinodactyly, brachydactyly, overriding toes, toe syndactyly, small hands). Approximately 60% have skeletal complications (joint laxity and scoliosis). Hernias are found as well as hypotonia (60%). Eye abnormalities are common (nystagmus and strabismus). Ear abnormalities are variable but common (large ears, ear lobe pits, anteverted ear lobes, and protuberant ears). Genital abnormalities are common in males (60%). Mild to moderate developmental delay is found in all patients. Behavior abnormalities, such as autism, hyperactivity, aggression, and attention deficit are reported in 37%. Approximately 50% of patients have abnormal brain imaging on magnetic resonance imaging (MRI). Nearly 40% have a history of recurrent infections. Recurrent ear infections may be a predisposing factor to hearing loss (25%). Microcephaly is uncommon (20%). Other congenital malformations, while rare, can be severe and include cardiovascular malformations, congenital diaphragmatic hernia, intestinal atresia, imperforate anus, and myelomeningocele (see these terms).EtiologyThe syndrome is caused by a microdeletion of 1.7 to 6.1 Mb in size in chromosome 15q24 which usually results from nonallelic homologous recombination (NAHR). The smallest region of overlap (SRO) spans a 1.2 Mb region including several candidate genes that may predispose to many of the clinical features: CYP11A1, SEMA7A, CPLX3, ARID3B, STRA6, SIN3A and CSK.Diagnostic methodsOligonucleotide array CGH (aCGH) with confirmation by fluorescent in-situ hybridization (FISH) detects most, if not all, deletions of 15q24. Karyotypes are typically normal.Differential diagnosisDifferential diagnoses include other genetic syndromes, particularly monosomy 22q11, Prader-Willi, and Noonan syndromes (see these terms).Antenatal diagnosisDeletion of 15q24 can be detected in amniotic fluid or chorionic villi samples. Since routine karyotyping is not sufficient to detect the deletion, aCGH should be performed.Genetic counselingThe deletion occurred as a de novo event in all reported patients when parents were available for testing. Parental aCGH and/or FISH studies are recommended to provide accurate genetic counseling.Management and treatmentManagement should be multi-disciplinary with the primary care physician and clinical geneticist playing crucial roles in appropriate screening, surveillance, and care. At the time of diagnosis, baseline echocardiograms, audiologic, ophthalmologic, and developmental assessments are needed. Growth and feeding should be monitored closely.PrognosisThe prognosis is variable and depends on the severity and extent of congenital malformations.Visit the Orphanet disease page for more resources.

MalaCards based summary : Chromosome 15q24 Deletion Syndrome, also known as 15q24 microdeletion syndrome, is related to witteveen-kolk syndrome and diaphragmatic hernia, congenital. An important gene associated with Chromosome 15q24 Deletion Syndrome is FTSJ1 (FtsJ RNA Methyltransferase Homolog 1). Affiliated tissues include eye, testes and brain, and related phenotypes are inguinal hernia and hypospadias

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.

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:

# Related Disease Score Top Affiliating Genes
1 witteveen-kolk syndrome 11.5
2 diaphragmatic hernia, congenital 10.0
3 autism 10.0
4 autism spectrum disorder 10.0
5 common variable immunodeficiency 9.9
6 cholesterol ester storage disease 9.2 CYP11A1 SERPINA1
7 trehalase deficiency 8.8 DYNC1H1 FTSJ1 SERPINA1 SETBP1 SIN3A

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)
# Description HPO Frequency HPO Source Accession
1 inguinal hernia 32 occasional (7.5%) HP:0000023
2 hypospadias 32 frequent (33%) HP:0000047
3 hypogonadism 32 frequent (33%) HP:0000135
4 narrow mouth 32 hallmark (90%) HP:0000160
5 thick lower lip vermilion 32 hallmark (90%) HP:0000179
6 high palate 32 occasional (7.5%) HP:0000218
7 microcephaly 32 frequent (33%) HP:0000252
8 narrow face 32 frequent (33%) HP:0000275
9 long face 32 frequent (33%) HP:0000276
10 epicanthus 32 occasional (7.5%) HP:0000286
11 hypertelorism 32 hallmark (90%) HP:0000316
12 smooth philtrum 32 frequent (33%) HP:0000319
13 facial asymmetry 32 occasional (7.5%) HP:0000324
14 long philtrum 32 hallmark (90%) HP:0000343
15 hearing impairment 32 frequent (33%) HP:0000365
16 cupped ear 32 frequent (33%) HP:0000378
17 macrotia 32 frequent (33%) HP:0000400
18 prominent nasal bridge 32 frequent (33%) HP:0000426
19 underdeveloped nasal alae 32 occasional (7.5%) HP:0000430
20 wide nasal bridge 32 frequent (33%) HP:0000431
21 strabismus 32 frequent (33%) HP:0000486
22 deeply set eye 32 occasional (7.5%) HP:0000490
23 downslanted palpebral fissures 32 frequent (33%) HP:0000494
24 sparse and thin eyebrow 32 frequent (33%) HP:0000535
25 microphthalmia 32 occasional (7.5%) HP:0000568
26 nystagmus 32 occasional (7.5%) HP:0000639
27 congenital diaphragmatic hernia 32 occasional (7.5%) HP:0000776
28 intellectual disability 32 hallmark (90%) HP:0001249
29 seizures 32 occasional (7.5%) HP:0001250
30 global developmental delay 32 hallmark (90%) HP:0001263
31 intrauterine growth retardation 32 frequent (33%) HP:0001511
32 hoarse voice 32 occasional (7.5%) HP:0001609
33 nasal speech 32 occasional (7.5%) HP:0001611
34 pes cavus 32 occasional (7.5%) HP:0001761
35 toe syndactyly 32 occasional (7.5%) HP:0001770
36 sandal gap 32 occasional (7.5%) HP:0001852
37 toe clinodactyly 32 occasional (7.5%) HP:0001863
38 deep plantar creases 32 occasional (7.5%) HP:0001869
39 highly arched eyebrow 32 frequent (33%) HP:0002553
40 scoliosis 32 frequent (33%) HP:0002650
41 immunodeficiency 32 frequent (33%) HP:0002721
42 short nose 32 occasional (7.5%) HP:0003196
43 short palm 32 occasional (7.5%) HP:0004279
44 short stature 32 frequent (33%) HP:0004322
45 joint hyperflexibility 32 frequent (33%) HP:0005692
46 attention deficit hyperactivity disorder 32 occasional (7.5%) HP:0007018
47 bilateral single transverse palmar creases 32 frequent (33%) HP:0007598
48 abnormality of the proximal phalanx of the thumb 32 occasional (7.5%) HP:0009618
49 proximal placement of thumb 32 frequent (33%) HP:0009623
50 short thumb 32 occasional (7.5%) HP:0009778

MGI Mouse Phenotypes related to Chromosome 15q24 Deletion Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.65 ARID3B BBS4 CPLX3 CYP11A1 DYNC1H1 HCN4
2 nervous system MP:0003631 9.23 SEMA7A STRA6 ARID3B BBS4 CPLX3 CYP11A1

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

Anatomical Context for Chromosome 15q24 Deletion Syndrome

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

41
Eye, Testes, Brain

Publications for Chromosome 15q24 Deletion Syndrome

Articles related to Chromosome 15q24 Deletion Syndrome:

# Title Authors Year
1
Inherited 15q24 microdeletion syndrome in twins and their father with phenotypic variability. ( 25527279 )
2015
2
Chromosome 15q24 microdeletion syndrome. ( 22216833 )
2012
3
Further clinical and molecular delineation of the 15q24 microdeletion syndrome. ( 22180641 )
2012
4
A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region. ( 20678247 )
2010
5
Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome. ( 19233321 )
2009
6
A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH. ( 17932688 )
2008
7
A 15q24 microduplication, reciprocal to the recently described 15q24 microdeletion, in a boy sharing clinical features with 15q24 microdeletion syndrome patients. ( 18755302 )
2008
8
Characterization of a recurrent 15q24 microdeletion syndrome. ( 17360722 )
2007
9
15q24 Microdeletion Syndrome ( 22359776 )
1993

Variations for Chromosome 15q24 Deletion Syndrome

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

7 (show all 17)
# 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

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II repressing transcription factor binding GO:0001103 8.62 BBS4 SIN3A

Sources for Chromosome 15q24 Deletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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