MCID: CHR494
MIFTS: 15

Chromosome 15q25 Deletion Syndrome

Categories: Genetic diseases

Aliases & Classifications for Chromosome 15q25 Deletion Syndrome

MalaCards integrated aliases for Chromosome 15q25 Deletion Syndrome:

Name: Chromosome 15q25 Deletion Syndrome 57 12 29 13 72

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype
onset at birth


HPO:

32
chromosome 15q25 deletion syndrome:
Inheritance autosomal dominant inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0060396
OMIM 57 614294
MedGen 42 C3280355
UMLS 72 C3280355

Summaries for Chromosome 15q25 Deletion Syndrome

Disease Ontology : 12 A chromosomal deletion syndrome that is characterized by intellectual disability and developmental delay, has material basis in partial deletion of the long arm of chromosome 15.

MalaCards based summary : Chromosome 15q25 Deletion Syndrome An important gene associated with Chromosome 15q25 Deletion Syndrome is DEL15Q25 (Chromosome 15q25 Deletion Syndrome). Related phenotypes are dextrocardia and hypertelorism

More information from OMIM: 614294

Related Diseases for Chromosome 15q25 Deletion Syndrome

Symptoms & Phenotypes for Chromosome 15q25 Deletion Syndrome

Human phenotypes related to Chromosome 15q25 Deletion Syndrome:

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 dextrocardia 32 occasional (7.5%) HP:0001651
2 hypertelorism 32 HP:0000316
3 short neck 32 HP:0000470
4 pectus excavatum 32 HP:0000767
5 inguinal hernia 32 HP:0000023
6 global developmental delay 32 HP:0001263
7 short stature 32 HP:0004322
8 cleft palate 32 HP:0000175
9 tented upper lip vermilion 32 HP:0010804
10 cryptorchidism 32 HP:0000028
11 attention deficit hyperactivity disorder 32 HP:0007018
12 cleft upper lip 32 HP:0000204
13 downslanted palpebral fissures 32 HP:0000494
14 congenital diaphragmatic hernia 32 HP:0000776
15 myopathic facies 32 HP:0002058
16 long fingers 32 HP:0100807
17 macrocytic anemia 32 HP:0001972
18 abnormal cardiac septum morphology 32 HP:0001671

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
downslanting palpebral fissures

Chest External Features:
pectus excavatum

Growth Height:
short stature

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
autistic features
attention deficit

Head And Neck Face:
myopathic facies

Hematology:
macrocytic anemia
thrombosis

Neurologic Central Nervous System:
delayed psychomotor development

Chest Diaphragm:
diaphragmatic hernia

Head And Neck Neck:
short neck

Muscle Soft Tissue:
inguinal hernia

Head And Neck Mouth:
cleft palate
cleft lip
tented upper lip

Genitourinary Internal Genitalia Male:
cryptorchidism

Skeletal Hands:
long fingers

Cardiovascular Heart:
septal defects
dextrocardia (1 patient)

Growth Other:
poor growth

Clinical features from OMIM:

614294

Drugs & Therapeutics for Chromosome 15q25 Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 15q25 Deletion Syndrome

Genetic Tests for Chromosome 15q25 Deletion Syndrome

Genetic tests related to Chromosome 15q25 Deletion Syndrome:

# Genetic test Affiliating Genes
1 Chromosome 15q25 Deletion Syndrome 29

Anatomical Context for Chromosome 15q25 Deletion Syndrome

Publications for Chromosome 15q25 Deletion Syndrome

Articles related to Chromosome 15q25 Deletion Syndrome:

# Title Authors PMID Year
1
Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletions. 8
24352913 2014
2
Proximal and distal 15q25.2 microdeletions-genotype-phenotype delineation of two neurodevelopmental susceptibility loci. 8
23239641 2013
3
An emerging phenotype of interstitial 15q25.2 microdeletions: clinical report and review. 8
23166063 2012
4
A copy number variation morbidity map of developmental delay. 8
21841781 2011
5
Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond--Blackfan anaemia. 8
20921022 2010

Variations for Chromosome 15q25 Deletion Syndrome

Expression for Chromosome 15q25 Deletion Syndrome

Search GEO for disease gene expression data for Chromosome 15q25 Deletion Syndrome.

Pathways for Chromosome 15q25 Deletion Syndrome

GO Terms for Chromosome 15q25 Deletion Syndrome

Sources for Chromosome 15q25 Deletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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