MCID: CHR494
MIFTS: 17

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 56 12 29 13 71

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype
onset at birth


HPO:

31
chromosome 15q25 deletion syndrome:
Inheritance autosomal dominant inheritance
Onset and clinical course congenital onset


Classifications:



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:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 dextrocardia 31 occasional (7.5%) HP:0001651
2 hypertelorism 31 HP:0000316
3 short neck 31 HP:0000470
4 pectus excavatum 31 HP:0000767
5 global developmental delay 31 HP:0001263
6 inguinal hernia 31 HP:0000023
7 short stature 31 HP:0004322
8 cryptorchidism 31 HP:0000028
9 downslanted palpebral fissures 31 HP:0000494
10 cleft palate 31 HP:0000175
11 tented upper lip vermilion 31 HP:0010804
12 attention deficit hyperactivity disorder 31 HP:0007018
13 cleft upper lip 31 HP:0000204
14 abnormal cardiac septum morphology 31 HP:0001671
15 congenital diaphragmatic hernia 31 HP:0000776
16 myopathic facies 31 HP:0002058
17 long fingers 31 HP:0100807
18 macrocytic anemia 31 HP:0001972

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
downslanting palpebral fissures

Chest External Features:
pectus excavatum

Growth Height:
short stature

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

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

Genitourinary Internal Genitalia Male:
cryptorchidism

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
autistic features
attention deficit

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. 56
24352913 2014
2
Proximal and distal 15q25.2 microdeletions-genotype-phenotype delineation of two neurodevelopmental susceptibility loci. 56
23239641 2013
3
An emerging phenotype of interstitial 15q25.2 microdeletions: clinical report and review. 56
23166063 2012
4
A copy number variation morbidity map of developmental delay. 56
21841781 2011
5
Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond--Blackfan anaemia. 56
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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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