MCID: CHR379
MIFTS: 32

Chromosome 15q26-Qter Deletion Syndrome

Categories: Fetal diseases, Genetic diseases, Mental diseases, Rare diseases
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Aliases & Classifications for Chromosome 15q26-Qter Deletion Syndrome

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

Name: Chromosome 15q26-Qter Deletion Syndrome 57 11 28 12 5 43 14 71
Telomeric 15q Deletion Syndrome 11 58
Distal 15q Deletion Syndrome 11 58
15q26 Deletion Syndrome 11 58
Distal Monosomy 15q 11 58
Drayer Syndrome 57 11
Monosomy 15q26 58

Characteristics:


Inheritance:

Isolated cases 57

Prevelance:

Distal Monosomy 15q: <1/1000000 (Worldwide) 58

Age Of Onset:

Distal Monosomy 15q: Antenatal,Neonatal 58

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
variable phenotype
onset in utero


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Chromosome 15q26-Qter Deletion Syndrome

Orphanet: 58 Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported.

MalaCards based summary: Chromosome 15q26-Qter Deletion Syndrome, also known as telomeric 15q deletion syndrome, is related to dysgraphia and 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 heart, kidney and tongue, and related phenotypes are intrauterine growth retardation and small for gestational age

Disease Ontology: 11 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.

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 dysgraphia 9.6 LRRC37B CRLF3
2 chromosome 17q11.2 deletion syndrome 9.3 UTP6 LRRC37B CRLF3

Symptoms & Phenotypes for Chromosome 15q26-Qter Deletion Syndrome

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

58 30 (show top 50) (show all 66)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intrauterine growth retardation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001511
2 small for gestational age 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001518
3 failure to thrive 58 30 Frequent (33%) Frequent (79-30%)
HP:0001508
4 coarse facial features 58 30 Frequent (33%) Frequent (79-30%)
HP:0000280
5 hearing impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0000365
6 global developmental delay 58 30 Frequent (33%) Frequent (79-30%)
HP:0001263
7 hypertelorism 58 30 Frequent (33%) Frequent (79-30%)
HP:0000316
8 abnormality of the dentition 58 30 Frequent (33%) Frequent (79-30%)
HP:0000164
9 delayed speech and language development 58 30 Frequent (33%) Frequent (79-30%)
HP:0000750
10 microcephaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0000252
11 short stature 58 30 Frequent (33%) Frequent (79-30%)
HP:0004322
12 genu valgum 58 30 Frequent (33%) Frequent (79-30%)
HP:0002857
13 strabismus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000486
14 cleft palate 58 30 Frequent (33%) Frequent (79-30%)
HP:0000175
15 cryptorchidism 58 30 Frequent (33%) Frequent (79-30%)
HP:0000028
16 attention deficit hyperactivity disorder 58 30 Frequent (33%) Frequent (79-30%)
HP:0007018
17 postnatal growth retardation 58 30 Frequent (33%) Frequent (79-30%)
HP:0008897
18 micrognathia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000347
19 low-set ears 58 30 Frequent (33%) Frequent (79-30%)
HP:0000369
20 bicuspid aortic valve 58 30 Frequent (33%) Frequent (79-30%)
HP:0001647
21 coarctation of aorta 58 30 Frequent (33%) Frequent (79-30%)
HP:0001680
22 talipes equinovarus 58 30 Frequent (33%) Frequent (79-30%)
HP:0001762
23 upslanted palpebral fissure 58 30 Frequent (33%) Frequent (79-30%)
HP:0000582
24 micropenis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000054
25 thin upper lip vermilion 58 30 Frequent (33%) Frequent (79-30%)
HP:0000219
26 hip dislocation 58 30 Frequent (33%) Frequent (79-30%)
HP:0002827
27 flat occiput 58 30 Frequent (33%) Frequent (79-30%)
HP:0005469
28 hypospadias 58 30 Frequent (33%) Frequent (79-30%)
HP:0000047
29 short philtrum 58 30 Frequent (33%) Frequent (79-30%)
HP:0000322
30 abnormal aortic arch morphology 58 30 Frequent (33%) Frequent (79-30%)
HP:0012303
31 blepharophimosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000581
32 congenital diaphragmatic hernia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000776
33 short distal phalanx of finger 58 30 Frequent (33%) Frequent (79-30%)
HP:0009882
34 small hand 58 30 Frequent (33%) Frequent (79-30%)
HP:0200055
35 triangular face 58 30 Frequent (33%) Frequent (79-30%)
HP:0000325
36 pulmonary hypoplasia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002089
37 mitral stenosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0001718
38 autistic behavior 58 30 Frequent (33%) Frequent (79-30%)
HP:0000729
39 broad nasal tip 58 30 Frequent (33%) Frequent (79-30%)
HP:0000455
40 small nail 58 30 Frequent (33%) Frequent (79-30%)
HP:0001792
41 bifid tongue 58 30 Frequent (33%) Frequent (79-30%)
HP:0010297
42 finger clinodactyly 58 30 Frequent (33%) Frequent (79-30%)
HP:0040019
43 generalized joint laxity 58 30 Frequent (33%) Frequent (79-30%)
HP:0002761
44 decreased serum insulin-like growth factor 1 58 30 Frequent (33%) Frequent (79-30%)
HP:0030353
45 2-3 toe cutaneous syndactyly 58 30 Frequent (33%) Frequent (79-30%)
HP:0005709
46 low 1-minute apgar score 58 30 Frequent (33%) Frequent (79-30%)
HP:0030918
47 abnormal cardiac septum morphology 30 Frequent (33%) HP:0001671
48 seizure 30 Frequent (33%) HP:0001250
49 cystic hygroma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000476
50 hypoplastic left heart 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004383

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Growth Other:
failure to thrive
intrauterine growth retardation

Growth Height:
short stature

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

Head And Neck Head:
microcephaly

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 (Updated 24-Oct-2022)

GenomeRNAi Phenotypes related to Chromosome 15q26-Qter Deletion Syndrome according to GeneCards Suite gene sharing:

25 (show all 21)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-10 9.66 ZNF207
2 Increased shRNA abundance (Z-score > 2) GR00366-A-112 9.66 ZNF207
3 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.66 ZNF207
4 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.66 CRLF3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.66 CRLF3
6 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.66 ZNF207
7 Increased shRNA abundance (Z-score > 2) GR00366-A-153 9.66 IGF1R
8 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.66 CRLF3
9 Increased shRNA abundance (Z-score > 2) GR00366-A-186 9.66 ZNF207
10 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.66 CRLF3
11 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.66 CRLF3 ZNF207
12 Increased shRNA abundance (Z-score > 2) GR00366-A-31 9.66 ZNF207
13 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.66 ZNF207
14 Increased shRNA abundance (Z-score > 2) GR00366-A-37 9.66 ZNF207
15 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.66 ZNF207
16 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.66 IGF1R
17 Increased shRNA abundance (Z-score > 2) GR00366-A-61 9.66 ZNF207
18 Increased shRNA abundance (Z-score > 2) GR00366-A-68 9.66 ZNF207
19 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.66 ZNF207
20 Increased shRNA abundance (Z-score > 2) GR00366-A-78 9.66 ZNF207
21 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.66 IGF1R

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 28

Anatomical Context for Chromosome 15q26-Qter Deletion Syndrome

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

MalaCards : Heart, Kidney, Tongue, Skin

Publications for Chromosome 15q26-Qter Deletion Syndrome

Articles related to Chromosome 15q26-Qter Deletion Syndrome:

(show all 11)
# Title Authors PMID Year
1
Phenotype-genotype correlation in a familial IGF1R microdeletion case. 57
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). 57
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. 57
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. 57
14671200 2003
5
De novo terminal deletion of chromosome 15q26.1 characterised by comparative genomic hybridisation and FISH with locus specific probes. 57
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. 57
1849352 1991
7
Case of 15q26-qter deletion associated with a Prader-Willi phenotype. 62
32473228 2020
8
Array Characterization of Prenatally Diagnosed 15q26 Microdeletion and 2q37.1 Duplication: Report of a New Case with Multicystic Kidneys and Review of the Literature. 62
29142763 2017
9
Kidney abnormalities in persons with monosomy 15q26. 62
18512227 2008
10
Recurrent neural tube defects associated with partial trisomy 2p22-pter: report of two siblings and review of the literature. 62
12872810 2003
11
Trisomy 2p syndrome: a fetus with anencephaly and postaxial polydactyly. 62
10528246 1999

Variations for Chromosome 15q26-Qter Deletion Syndrome

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

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 24 genes GRCh37/hg19 15q26.2-26.3(chr15:96878099-102397836)x1 CN LOSS Pathogenic
805881 GRCh37: 15:96878099-102397836
GRCh38:
2 overlap with 14 genes DEL Likely Pathogenic
1077189 GRCh37: 15:99192811-101791668
GRCh38:

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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