MCID: CHR494
MIFTS: 14

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 58 12 30 13 74

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype
onset at birth


HPO:

33
chromosome 15q25 deletion syndrome:
Onset and clinical course congenital onset phenotypic variability
Inheritance autosomal dominant inheritance


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

Description 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:

33 (show all 18)
# Description HPO Frequency HPO Source Accession
1 dextrocardia 33 occasional (7.5%) HP:0001651
2 hypertelorism 33 HP:0000316
3 short neck 33 HP:0000470
4 pectus excavatum 33 HP:0000767
5 inguinal hernia 33 HP:0000023
6 global developmental delay 33 HP:0001263
7 short stature 33 HP:0004322
8 cleft palate 33 HP:0000175
9 cryptorchidism 33 HP:0000028
10 attention deficit hyperactivity disorder 33 HP:0007018
11 downslanted palpebral fissures 33 HP:0000494
12 tented upper lip vermilion 33 HP:0010804
13 cleft upper lip 33 HP:0000204
14 myopathic facies 33 HP:0002058
15 congenital diaphragmatic hernia 33 HP:0000776
16 long fingers 33 HP:0100807
17 macrocytic anemia 33 HP:0001972
18 abnormal cardiac septum morphology 33 HP:0001671

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
downslanting palpebral fissures

Chest External Features:
pectus excavatum

Growth Height:
short stature

Genitourinary Internal Genitalia Male:
cryptorchidism

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
autistic features
attention deficit

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

Head And Neck Face:
myopathic facies

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 30

Anatomical Context for Chromosome 15q25 Deletion Syndrome

Publications for Chromosome 15q25 Deletion Syndrome

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....