MCID: CHR379
MIFTS: 24

Chromosome 15q26-Qter Deletion Syndrome

Categories: Fetal diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Chromosome 15q26-Qter Deletion Syndrome

MalaCards integrated aliases for Chromosome 15q26-Qter Deletion Syndrome:

Name: Chromosome 15q26-Qter Deletion Syndrome 57 12 29 13 44 73
Telomeric 15q Deletion Syndrome 12 59
Distal 15q Deletion Syndrome 12 59
15q26 Deletion Syndrome 12 59
Distal Monosomy 15q 12 59
Drayer Syndrome 57 12
Monosomy 15q26 59

Characteristics:

OMIM:

57
Miscellaneous:
variable phenotype
onset in utero

Inheritance:
isolated cases


HPO:

32
chromosome 15q26-qter deletion syndrome:
Onset and clinical course congenital onset phenotypic variability
Inheritance sporadic


Classifications:



Summaries for Chromosome 15q26-Qter Deletion Syndrome

MalaCards based summary : Chromosome 15q26-Qter Deletion Syndrome, is also known as telomeric 15q deletion syndrome. An important gene associated with Chromosome 15q26-Qter Deletion Syndrome is DEL15Q26QTER (Chromosome 15q26-Qter Deletion Syndrome). Affiliated tissues include kidney, heart and tongue, and related phenotypes are hypertelorism and low-set ears

Description from OMIM: 612626

Related Diseases for Chromosome 15q26-Qter Deletion Syndrome

Symptoms & Phenotypes for Chromosome 15q26-Qter Deletion Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears

Head And Neck Head:
microcephaly

Head And Neck Face:
micrognathia
triangular facies

Genitourinary External Genitalia Male:
cryptorchidism
hypospadias
micropenis

Skeletal Feet:
brachydactyly
talipes equinovarus
absence or hypoplastic middle phalanges

Cardiovascular Heart:
septal defects
congenital cardiac anomalies

Growth Weight:
low birth weight

Growth Other:
failure to thrive
intrauterine growth retardation

Growth Height:
short stature

Head And Neck Eyes:
strabismus
blepharophimosis

Skeletal Hands:
brachydactyly
absence or hypoplastic middle phalanges

Head And Neck Nose:
broad nasal bridge

Neurologic Central Nervous System:
mental retardation
delayed psychomotor development


Clinical features from OMIM:

612626

Human phenotypes related to Chromosome 15q26-Qter Deletion Syndrome:

59 32 (show top 50) (show all 66)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
2 low-set ears 59 32 frequent (33%) Frequent (79-30%) HP:0000369
3 genu valgum 59 32 frequent (33%) Frequent (79-30%) HP:0002857
4 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
5 failure to thrive 59 32 frequent (33%) Frequent (79-30%) HP:0001508
6 coarse facial features 59 32 frequent (33%) Frequent (79-30%) HP:0000280
7 hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000365
8 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
9 abnormality of the dentition 59 32 frequent (33%) Frequent (79-30%) HP:0000164
10 delayed speech and language development 59 32 frequent (33%) Frequent (79-30%) HP:0000750
11 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
12 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
13 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
14 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
15 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
16 patent ductus arteriosus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001643
17 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
18 attention deficit hyperactivity disorder 59 32 frequent (33%) Frequent (79-30%) HP:0007018
19 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
20 postnatal growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0008897
21 cystic hygroma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000476
22 bicuspid aortic valve 59 32 frequent (33%) Frequent (79-30%) HP:0001647
23 coarctation of aorta 59 32 frequent (33%) Frequent (79-30%) HP:0001680
24 hypoplastic left heart 59 32 occasional (7.5%) Occasional (29-5%) HP:0004383
25 hip dislocation 59 32 frequent (33%) Frequent (79-30%) HP:0002827
26 short philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000322
27 hypospadias 59 32 frequent (33%) Frequent (79-30%) HP:0000047
28 small nail 59 32 frequent (33%) Frequent (79-30%) HP:0001792
29 small hand 59 32 frequent (33%) Frequent (79-30%) HP:0200055
30 multicystic kidney dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000003
31 upslanted palpebral fissure 59 32 frequent (33%) Frequent (79-30%) HP:0000582
32 broad nasal tip 59 32 frequent (33%) Frequent (79-30%) HP:0000455
33 talipes equinovarus 59 32 frequent (33%) Frequent (79-30%) HP:0001762
34 thin upper lip vermilion 59 32 frequent (33%) Frequent (79-30%) HP:0000219
35 flat occiput 59 32 frequent (33%) Frequent (79-30%) HP:0005469
36 blepharophimosis 59 32 frequent (33%) Frequent (79-30%) HP:0000581
37 short distal phalanx of finger 59 32 frequent (33%) Frequent (79-30%) HP:0009882
38 triangular face 59 32 frequent (33%) Frequent (79-30%) HP:0000325
39 abnormal localization of kidney 59 32 occasional (7.5%) Occasional (29-5%) HP:0100542
40 congenital diaphragmatic hernia 59 32 frequent (33%) Frequent (79-30%) HP:0000776
41 micropenis 59 32 frequent (33%) Frequent (79-30%) HP:0000054
42 autistic behavior 59 32 frequent (33%) Frequent (79-30%) HP:0000729
43 finger clinodactyly 59 32 frequent (33%) Frequent (79-30%) HP:0040019
44 single umbilical artery 59 32 occasional (7.5%) Occasional (29-5%) HP:0001195
45 single transverse palmar crease 59 32 occasional (7.5%) Occasional (29-5%) HP:0000954
46 mitral stenosis 59 32 frequent (33%) Frequent (79-30%) HP:0001718
47 mitral atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0011560
48 pulmonary hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0002089
49 small for gestational age 59 32 hallmark (90%) Very frequent (99-80%) HP:0001518
50 bifid tongue 59 32 frequent (33%) Frequent (79-30%) HP:0010297

Drugs & Therapeutics for Chromosome 15q26-Qter Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 15q26-Qter Deletion Syndrome

Cochrane evidence based reviews: chromosome 15q26-qter deletion syndrome

Genetic Tests for Chromosome 15q26-Qter Deletion Syndrome

Genetic tests related to Chromosome 15q26-Qter Deletion Syndrome:

# Genetic test Affiliating Genes
1 Chromosome 15q26-Qter Deletion Syndrome 29

Anatomical Context for Chromosome 15q26-Qter Deletion Syndrome

MalaCards organs/tissues related to Chromosome 15q26-Qter Deletion Syndrome:

41
Kidney, Heart, Tongue

Publications for Chromosome 15q26-Qter Deletion Syndrome

Variations for Chromosome 15q26-Qter Deletion Syndrome

Expression for Chromosome 15q26-Qter Deletion Syndrome

Search GEO for disease gene expression data for Chromosome 15q26-Qter Deletion Syndrome.

Pathways for Chromosome 15q26-Qter Deletion Syndrome

GO Terms for Chromosome 15q26-Qter Deletion Syndrome

Sources for Chromosome 15q26-Qter Deletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
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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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