Chromosome 15q24 Deletion Syndrome

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Chromosome 15q24 Deletion Syndrome

MalaCards integrated aliases for Chromosome 15q24 Deletion Syndrome:

Name: Chromosome 15q24 Deletion Syndrome 12 13 15 74
15q24 Microdeletion Syndrome 12 54 26
15q24 Microdeletion 26 45
Interstitial Deletion of Chromosome 15q24 26
Monosomy 15q24 54
15q24 Deletion 26
Del(15)(q24) 54


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Disease Ontology 12 DOID:0060395
MeSH 45 C579849
ICD10 34 Q93.5
UMLS 74 C3150674

Summaries for Chromosome 15q24 Deletion Syndrome

NIH Rare Diseases : 54 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 tibial muscular dystrophy, tardive. An important gene associated with Chromosome 15q24 Deletion Syndrome is FTSJ1 (FtsJ RNA 2'-O-Methyltransferase 1). Affiliated tissues include brain, testes and eye, and related phenotypes are mortality/aging and nervous system

Disease Ontology : 12 A chromosomal deletion syndrome that is characterized by dysmorphic facial features, intellectual disability and seizure, has material basis in autosomal dominant inheritance of mutation in the SIN3A gene causing partial deletion of the long arm of chromosome 15.

Genetics Home Reference : 26 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.

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 11.7
2 tibial muscular dystrophy, tardive 10.1
3 diaphragmatic hernia, congenital 10.1
4 autism 10.1
5 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 10.0
6 myelodysplastic syndrome 10.0
7 common variable immunodeficiency 10.0
8 mental retardation, autosomal dominant 13 10.0 DYNC1H1 SIN3A
9 cholesterol ester storage disease 9.6 CYP11A1 SERPINA1

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

MGI Mouse Phenotypes related to Chromosome 15q24 Deletion Syndrome:

# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.81 ARID3B BBS4 CPLX3 CYP11A1 DYNC1H1 HCN4
2 nervous system MP:0003631 9.56 ARID3B BBS4 CPLX3 CYP11A1 DYNC1H1 HCN4
3 normal MP:0002873 9.1 ARID3B BBS4 CYP11A1 FTSJ1 HCN4 SIN3A

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:

Brain, Testes, Eye

Publications for Chromosome 15q24 Deletion Syndrome

Articles related to Chromosome 15q24 Deletion Syndrome:

# Title Authors Year
A Novel Case of 15q24 Microdeletion Syndrome Detected by MLPA in a Chinese Family. ( 28879703 )
An inferential study of the phenotype for the chromosome 15q24 microdeletion syndrome: a bootstrap analysis. ( 26925314 )
Inherited 15q24 microdeletion syndrome in twins and their father with phenotypic variability. ( 25527279 )
Further clinical and molecular delineation of the 15q24 microdeletion syndrome. ( 22180641 )
Chromosome 15q24 microdeletion syndrome. ( 22216833 )
A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region. ( 20678247 )
Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome. ( 19233321 )
A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH. ( 17932688 )
A 15q24 microduplication, reciprocal to the recently described 15q24 microdeletion, in a boy sharing clinical features with 15q24 microdeletion syndrome patients. ( 18755302 )
Characterization of a recurrent 15q24 microdeletion syndrome. ( 17360722 )

Variations for Chromosome 15q24 Deletion 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

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
33 HPO
34 ICD10
35 ICD10 via Orphanet
39 LifeMap
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
56 Novoseek
59 OMIM via Orphanet
63 PubMed
71 SNOMED-CT via Orphanet
73 Tocris
75 UMLS via Orphanet
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