MCID: CHR379
MIFTS: 28

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 56 12 29 13 6 43 15 71
Telomeric 15q Deletion Syndrome 12 58
Distal 15q Deletion Syndrome 12 58
15q26 Deletion Syndrome 12 58
Distal Monosomy 15q 12 58
Drayer Syndrome 56 12
Monosomy 15q26 58

Characteristics:

OMIM:

56
Miscellaneous:
variable phenotype
onset in utero

Inheritance:
isolated cases


HPO:

31
chromosome 15q26-qter deletion syndrome:
Inheritance sporadic
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Chromosome 15q26-Qter Deletion Syndrome

Disease Ontology : 12 A chromosomal deletion syndrome that is characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, brachy-clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits and mild craniofacial dysmorphism including microcephaly, triangular face, broad nasal bridge and micrognathia.

MalaCards based summary : Chromosome 15q26-Qter Deletion Syndrome, also known as telomeric 15q deletion syndrome, is related to chromosome 17q11.2 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

More information from OMIM: 612626

Related Diseases for Chromosome 15q26-Qter Deletion Syndrome

Diseases related to Chromosome 15q26-Qter Deletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 chromosome 17q11.2 deletion syndrome 8.5 UTP6 LRRC37B CRLF3 ADAP2

Symptoms & Phenotypes for Chromosome 15q26-Qter Deletion Syndrome

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

58 31 (show top 50) (show all 67)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
2 small for gestational age 58 31 hallmark (90%) Very frequent (99-80%) HP:0001518
3 coarse facial features 58 31 frequent (33%) Frequent (79-30%) HP:0000280
4 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
5 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
6 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
7 abnormality of the dentition 58 31 frequent (33%) Frequent (79-30%) HP:0000164
8 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%) HP:0000750
9 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
10 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
11 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
12 genu valgum 58 31 frequent (33%) Frequent (79-30%) HP:0002857
13 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
14 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
15 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
16 attention deficit hyperactivity disorder 58 31 frequent (33%) Frequent (79-30%) HP:0007018
17 postnatal growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0008897
18 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
19 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
20 bicuspid aortic valve 58 31 frequent (33%) Frequent (79-30%) HP:0001647
21 coarctation of aorta 58 31 frequent (33%) Frequent (79-30%) HP:0001680
22 talipes equinovarus 58 31 frequent (33%) Frequent (79-30%) HP:0001762
23 upslanted palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0000582
24 micropenis 58 31 frequent (33%) Frequent (79-30%) HP:0000054
25 thin upper lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0000219
26 hip dislocation 58 31 frequent (33%) Frequent (79-30%) HP:0002827
27 flat occiput 58 31 frequent (33%) Frequent (79-30%) HP:0005469
28 hypospadias 58 31 frequent (33%) Frequent (79-30%) HP:0000047
29 short philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000322
30 blepharophimosis 58 31 frequent (33%) Frequent (79-30%) HP:0000581
31 congenital diaphragmatic hernia 58 31 frequent (33%) Frequent (79-30%) HP:0000776
32 short distal phalanx of finger 58 31 frequent (33%) Frequent (79-30%) HP:0009882
33 small hand 58 31 frequent (33%) Frequent (79-30%) HP:0200055
34 triangular face 58 31 frequent (33%) Frequent (79-30%) HP:0000325
35 pulmonary hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0002089
36 mitral stenosis 58 31 frequent (33%) Frequent (79-30%) HP:0001718
37 autistic behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000729
38 broad nasal tip 58 31 frequent (33%) Frequent (79-30%) HP:0000455
39 small nail 58 31 frequent (33%) Frequent (79-30%) HP:0001792
40 bifid tongue 58 31 frequent (33%) Frequent (79-30%) HP:0010297
41 finger clinodactyly 58 31 frequent (33%) Frequent (79-30%) HP:0040019
42 generalized joint laxity 58 31 frequent (33%) Frequent (79-30%) HP:0002761
43 decreased serum insulin-like growth factor 1 58 31 frequent (33%) Frequent (79-30%) HP:0030353
44 2-3 toe cutaneous syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0005709
45 low 1-minute apgar score 58 31 frequent (33%) Frequent (79-30%) HP:0030918
46 abnormal cardiac septum morphology 31 frequent (33%) HP:0001671
47 seizure 31 frequent (33%) HP:0001250
48 abnormal aortic arch morphology 31 frequent (33%) HP:0012303
49 cystic hygroma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000476
50 hypoplastic left heart 58 31 occasional (7.5%) Occasional (29-5%) HP:0004383

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Head:
microcephaly

Growth Other:
failure to thrive
intrauterine growth retardation

Genitourinary External Genitalia Male:
cryptorchidism
micropenis
hypospadias

Head And Neck Ears:
low-set ears

Skeletal Hands:
brachydactyly
absence or hypoplastic middle phalanges

Cardiovascular Heart:
septal defects
congenital cardiac anomalies

Growth Weight:
low birth weight

Growth Height:
short stature

Head And Neck Eyes:
strabismus
blepharophimosis

Head And Neck Face:
micrognathia
triangular facies

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 29

Anatomical Context for Chromosome 15q26-Qter Deletion Syndrome

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

40
Kidney, Heart, Tongue, Skin

Publications for Chromosome 15q26-Qter Deletion Syndrome

Articles related to Chromosome 15q26-Qter Deletion Syndrome:

# Title Authors PMID Year
1
Phenotype-genotype correlation in a familial IGF1R microdeletion case. 56
19955558 2010
2
Drayer's syndrome of mental retardation, microcephaly, short stature and absent phalanges is caused by a recurrent deletion of chromosome 15(q26.2-->qter). 56
18651844 2008
3
Successful long-term growth hormone therapy in a girl with haploinsufficiency of the insulin-like growth factor-I receptor due to a terminal 15q26.2->qter deletion detected by multiplex ligation probe amplification. 56
18349070 2008
4
Cell proliferation activities on skin fibroblasts from a short child with absence of one copy of the type 1 insulin-like growth factor receptor (IGF1R) gene and a tall child with three copies of the IGF1R gene. 56
14671200 2003
5
De novo terminal deletion of chromosome 15q26.1 characterised by comparative genomic hybridisation and FISH with locus specific probes. 56
11565548 2001
6
An infant with deletion of the distal long arm of chromosome 15 (q26.1----qter) and loss of insulin-like growth factor 1 receptor gene. 56
1849352 1991
7
Case of 15q26-qter deletion associated with a Prader-Willi phenotype. 61
32473228 2020

Variations for Chromosome 15q26-Qter Deletion Syndrome

ClinVar genetic disease variations for Chromosome 15q26-Qter Deletion Syndrome:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 subset of 25 genes: IGF1R GRCh37/hg19 15q26.2-26.3(chr15:96878099-102397836)x1copy number loss Pathogenic 805881 15:96878099-102397836

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
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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