MCID: CHR379
MIFTS: 24

Chromosome 15q26-Qter Deletion Syndrome

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Chromosome 15q26-Qter Deletion Syndrome

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

Name: Chromosome 15q26-Qter Deletion Syndrome 58 12 30 13 45 15 74
Telomeric 15q Deletion Syndrome 12 60
Distal 15q Deletion Syndrome 12 60
15q26 Deletion Syndrome 12 60
Distal Monosomy 15q 12 60
Drayer Syndrome 58 12
Monosomy 15q26 60

Characteristics:

OMIM:

58
Miscellaneous:
variable phenotype
onset in utero

Inheritance:
isolated cases


HPO:

33
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 intrauterine growth retardation and small for gestational age

Description from OMIM: 612626

Related Diseases for Chromosome 15q26-Qter Deletion Syndrome

Symptoms & Phenotypes for Chromosome 15q26-Qter Deletion Syndrome

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

60 33 (show top 50) (show all 66)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intrauterine growth retardation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001511
2 small for gestational age 60 33 hallmark (90%) Very frequent (99-80%) HP:0001518
3 hypertelorism 60 33 frequent (33%) Frequent (79-30%) HP:0000316
4 low-set ears 60 33 frequent (33%) Frequent (79-30%) HP:0000369
5 genu valgum 60 33 frequent (33%) Frequent (79-30%) HP:0002857
6 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
7 failure to thrive 60 33 frequent (33%) Frequent (79-30%) HP:0001508
8 coarse facial features 60 33 frequent (33%) Frequent (79-30%) HP:0000280
9 hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000365
10 global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0001263
11 abnormality of the dentition 60 33 frequent (33%) Frequent (79-30%) HP:0000164
12 delayed speech and language development 60 33 frequent (33%) Frequent (79-30%) HP:0000750
13 microcephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000252
14 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
15 cleft palate 60 33 frequent (33%) Frequent (79-30%) HP:0000175
16 micrognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000347
17 strabismus 60 33 frequent (33%) Frequent (79-30%) HP:0000486
18 cryptorchidism 60 33 frequent (33%) Frequent (79-30%) HP:0000028
19 attention deficit hyperactivity disorder 60 33 frequent (33%) Frequent (79-30%) HP:0007018
20 postnatal growth retardation 60 33 frequent (33%) Frequent (79-30%) HP:0008897
21 bicuspid aortic valve 60 33 frequent (33%) Frequent (79-30%) HP:0001647
22 coarctation of aorta 60 33 frequent (33%) Frequent (79-30%) HP:0001680
23 talipes equinovarus 60 33 frequent (33%) Frequent (79-30%) HP:0001762
24 hip dislocation 60 33 frequent (33%) Frequent (79-30%) HP:0002827
25 short philtrum 60 33 frequent (33%) Frequent (79-30%) HP:0000322
26 hypospadias 60 33 frequent (33%) Frequent (79-30%) HP:0000047
27 small nail 60 33 frequent (33%) Frequent (79-30%) HP:0001792
28 small hand 60 33 frequent (33%) Frequent (79-30%) HP:0200055
29 upslanted palpebral fissure 60 33 frequent (33%) Frequent (79-30%) HP:0000582
30 broad nasal tip 60 33 frequent (33%) Frequent (79-30%) HP:0000455
31 thin upper lip vermilion 60 33 frequent (33%) Frequent (79-30%) HP:0000219
32 flat occiput 60 33 frequent (33%) Frequent (79-30%) HP:0005469
33 blepharophimosis 60 33 frequent (33%) Frequent (79-30%) HP:0000581
34 short distal phalanx of finger 60 33 frequent (33%) Frequent (79-30%) HP:0009882
35 triangular face 60 33 frequent (33%) Frequent (79-30%) HP:0000325
36 congenital diaphragmatic hernia 60 33 frequent (33%) Frequent (79-30%) HP:0000776
37 micropenis 60 33 frequent (33%) Frequent (79-30%) HP:0000054
38 pulmonary hypoplasia 60 33 frequent (33%) Frequent (79-30%) HP:0002089
39 autistic behavior 60 33 frequent (33%) Frequent (79-30%) HP:0000729
40 finger clinodactyly 60 33 frequent (33%) Frequent (79-30%) HP:0040019
41 mitral stenosis 60 33 frequent (33%) Frequent (79-30%) HP:0001718
42 bifid tongue 60 33 frequent (33%) Frequent (79-30%) HP:0010297
43 generalized joint laxity 60 33 frequent (33%) Frequent (79-30%) HP:0002761
44 2-3 toe cutaneous syndactyly 60 33 frequent (33%) Frequent (79-30%) HP:0005709
45 decreased serum insulin-like growth factor 1 60 33 frequent (33%) Frequent (79-30%) HP:0030353
46 low 1-minute apgar score 60 33 frequent (33%) Frequent (79-30%) HP:0030918
47 abnormal cardiac septum morphology 33 frequent (33%) HP:0001671
48 abnormal aortic arch morphology 33 frequent (33%) HP:0012303
49 patent ductus arteriosus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001643
50 cystic hygroma 60 33 occasional (7.5%) Occasional (29-5%) HP:0000476

Symptoms via clinical synopsis from OMIM:

58
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 Hands:
brachydactyly
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 Feet:
talipes equinovarus
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

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 30

Anatomical Context for Chromosome 15q26-Qter Deletion Syndrome

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

42
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 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
32 HMDB
33 HPO
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35 ICD10 via Orphanet
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45 MeSH
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50 NCI
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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
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