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 57 12 29 13 73

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype
onset at birth


HPO:

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


Classifications:



Summaries for Chromosome 15q25 Deletion Syndrome

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 hypertelorism and short neck

Description from OMIM: 614294

Related Diseases for Chromosome 15q25 Deletion Syndrome

Symptoms & Phenotypes for Chromosome 15q25 Deletion Syndrome

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Chromosome 15q25 Deletion Syndrome:

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

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

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 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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