MCID: CHR377
MIFTS: 32

Chromosome 10q26 Deletion Syndrome

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Chromosome 10q26 Deletion Syndrome

MalaCards integrated aliases for Chromosome 10q26 Deletion Syndrome:

Name: Chromosome 10q26 Deletion Syndrome 56 12 29 13 6 43 71
Terminal Chromosome 10q26 Deletion Syndrome 56 12
Distal 10q Deletion Syndrome 12 15
Telomeric Deletion 10q 12 58
Distal Monosomy 10q 12 58
Monosomy 10qter 12 58
Distal Deletion 10q 58

Characteristics:

Orphanet epidemiological data:

58
distal monosomy 10q
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype
contiguous gene deletion syndrome
cases reported include de novo deletions, interstitial deletions, and translocations involving only the terminal band of the reciprocal chromosome


HPO:

31
chromosome 10q26 deletion syndrome:
Inheritance autosomal dominant inheritance sporadic


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Chromosome 10q26 Deletion Syndrome

Disease Ontology : 12 A chromosomal deletion syndrome that is characterized by developmental delay, intellectual disability, behavioral problems and facial facies caused by a missing copy of the long arm of chromosome 10.

MalaCards based summary : Chromosome 10q26 Deletion Syndrome, also known as terminal chromosome 10q26 deletion syndrome, is related to non-distal monosomy 10q and 10q26 deletion syndrome, and has symptoms including seizures and nasal flaring. An important gene associated with Chromosome 10q26 Deletion Syndrome is DEL10Q26 (Chromosome 10q Deletion Syndrome). Affiliated tissues include kidney, and related phenotypes are intellectual disability and global developmental delay

More information from OMIM: 609625

Related Diseases for Chromosome 10q26 Deletion Syndrome

Diseases related to Chromosome 10q26 Deletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 non-distal monosomy 10q 12.5
2 10q26 deletion syndrome 12.0
3 alacrima, achalasia, and mental retardation syndrome 10.2
4 hypertelorism 10.2
5 cryptorchidism, unilateral or bilateral 10.2
6 branchiootic syndrome 1 10.2
7 microcephaly 10.2
8 chromosomal triplication 10.2
9 chromosome 10q deletion 10.2
10 distal trisomy 10q 10.2
11 anus, imperforate 10.1
12 anal fistula 10.1
13 fabry disease 10.1
14 anhidrosis 10.1
15 beare-stevenson cutis gyrata syndrome 9.4 TUBB8 ATE1

Graphical network of the top 20 diseases related to Chromosome 10q26 Deletion Syndrome:



Diseases related to Chromosome 10q26 Deletion Syndrome

Symptoms & Phenotypes for Chromosome 10q26 Deletion Syndrome

Human phenotypes related to Chromosome 10q26 Deletion Syndrome:

58 31 (show top 50) (show all 117)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 58 31 frequent (33%) Very frequent (99-80%) HP:0001263
3 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
4 specific learning disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001328
5 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
6 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
7 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
8 postnatal growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0008897
9 thin upper lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0000219
10 poor speech 58 31 frequent (33%) Frequent (79-30%) HP:0002465
11 infantile muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0008947
12 recurrent infections 58 31 frequent (33%) Frequent (79-30%) HP:0002719
13 lower limb hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0002395
14 enuresis 58 31 frequent (33%) Frequent (79-30%) HP:0000805
15 enlarged cisterna magna 58 31 frequent (33%) Frequent (79-30%) HP:0002280
16 low-set ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000369
17 seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0001250
18 spasticity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001257
19 clonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0002169
20 sleep disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0002360
21 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
22 pes planus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001763
23 brachydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001156
24 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
25 feeding difficulties 58 31 occasional (7.5%) Occasional (29-5%) HP:0011968
26 horseshoe kidney 58 31 occasional (7.5%) Occasional (29-5%) HP:0000085
27 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
28 craniosynostosis 58 31 occasional (7.5%) Very rare (<4-1%) HP:0001363
29 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
30 smooth philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000319
31 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
32 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
33 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
34 attention deficit hyperactivity disorder 58 31 occasional (7.5%) Occasional (29-5%) HP:0007018
35 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
36 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
37 poor fine motor coordination 58 31 occasional (7.5%) Occasional (29-5%) HP:0007010
38 prominent nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000426
39 cerebellar hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001321
40 clinodactyly of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004209
41 upslanted palpebral fissure 58 31 occasional (7.5%) Occasional (29-5%) HP:0000582
42 vesicoureteral reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0000076
43 aggressive behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000718
44 facial asymmetry 58 31 occasional (7.5%) Occasional (29-5%) HP:0000324
45 sandal gap 58 31 occasional (7.5%) Occasional (29-5%) HP:0001852
46 congenital sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0008527
47 premature birth 58 31 occasional (7.5%) Occasional (29-5%) HP:0001622
48 tapered finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0001182
49 astigmatism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000483
50 facial diplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001349

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
strabismus
downslanting palpebral fissures
epicanthal folds
upslanting palpebral fissures

Head And Neck Neck:
short neck
webbed neck

Skeletal Hands:
clinodactyly
syndactyly

Neurologic Central Nervous System:
seizures
hypotonia
mental retardation
wide-based gait
learning difficulties
more
Genitourinary Internal Genitalia Male:
cryptorchidism

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
aggressive behavior
poor attention span
affectionate behavior

Skin Nails Hair Hair:
low posterior hairline

Head And Neck Nose:
prominent nose
flared nostrils
broad nasal bridge
beaked nose

Head And Neck Mouth:
thin upper lip

Growth Weight:
low birth weight

Cardiovascular Heart:
atrial septal defect (less common)

Genitourinary Bladder:
vesicoureteric reflux (less common)

Laboratory Abnormalities:
cytogenetic deletion of the terminal region of chromosome 10 (del(10)(q23.3-qter))
cytogenetic breakpoints range from 10q23.3-q26.2

Head And Neck Ears:
low-set ears
prominent ears
rotated ears
hearing loss, sensorineural (in patients with larger deletions)
structural inner ear abnormalities (in patients with larger deletions)
more
Head And Neck Head:
frontal bossing
microcephaly
dolichocephaly

Skeletal Feet:
clinodactyly
syndactyly

Growth Height:
short stature

Head And Neck Face:
micrognathia
long philtrum
facial asymmetry
triangular face

Growth Other:
postnatal growth retardation

Genitourinary External Genitalia Male:
micropenis
hypoplastic scrotum

Skeletal Limbs:
limited elbow extension

Chest Breasts:
widely spaced nipples

Skin Nails Hair Nails:
nail hypoplasia

Cardiovascular Vascular:
patent ductus arteriosus (less common)

Skeletal Skull:
craniosynostosis (reported in 1 patient)

Clinical features from OMIM:

609625

UMLS symptoms related to Chromosome 10q26 Deletion Syndrome:


seizures, nasal flaring

Drugs & Therapeutics for Chromosome 10q26 Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 10q26 Deletion Syndrome

Cochrane evidence based reviews: chromosome 10q26 deletion syndrome

Genetic Tests for Chromosome 10q26 Deletion Syndrome

Genetic tests related to Chromosome 10q26 Deletion Syndrome:

# Genetic test Affiliating Genes
1 Chromosome 10q26 Deletion Syndrome 29

Anatomical Context for Chromosome 10q26 Deletion Syndrome

MalaCards organs/tissues related to Chromosome 10q26 Deletion Syndrome:

40
Kidney

Publications for Chromosome 10q26 Deletion Syndrome

Articles related to Chromosome 10q26 Deletion Syndrome:

(show all 12)
# Title Authors PMID Year
1
Identification of critical regions for clinical features of distal 10q deletion syndrome. 56
19558528 2009
2
Molecular (SNP) analyses of overlapping hemizygous deletions of 10q25.3 to 10qter in four patients: evidence for HMX2 and HMX3 as candidate genes in hearing and vestibular function. 56
19253379 2009
3
A subterminal deletion of the long arm of chromosome 10: a clinical report and review. 56
16419133 2006
4
Deletion of the distal long arm of chromosome 10; is there a characteristic phenotype? A report of 15 de novo and familial cases. 56
14598339 2003
5
Terminal deletion of chromosome 10q: clinical features and literature review. 56
10530074 1999
6
The partial monosomy 10q syndrome: report on two patients and review of the developmental data. 56
1920392 1991
7
Chromosome 10qter deletion syndrome: a review and report of three new cases. 56
2658586 1989
8
Behaviour disorder in monosomy 10qter. 56
3573005 1987
9
Deletions of the long arm of chromosome 10. 56
3970071 1985
10
Partial deletion 10q. 56
669716 1978
11
The severe clinical phenotype for a heterozygous Fabry female patient correlates to the methylation of non-mutated allele associated with chromosome 10q26 deletion syndrome. 61
28087245 2017
12
Chromosome 10q26 deletion syndrome: Two new cases and a review of the literature. 61
27779662 2016

Variations for Chromosome 10q26 Deletion Syndrome

ClinVar genetic disease variations for Chromosome 10q26 Deletion Syndrome:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 subset of 56 genes: BAG3 , EMX2 GRCh37/hg19 10q25.3-26.13(chr10:117024753-124942806)copy number loss Pathogenic 625556 10:117024753-124942806

Expression for Chromosome 10q26 Deletion Syndrome

Search GEO for disease gene expression data for Chromosome 10q26 Deletion Syndrome.

Pathways for Chromosome 10q26 Deletion Syndrome

GO Terms for Chromosome 10q26 Deletion Syndrome

Biological processes related to Chromosome 10q26 Deletion Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton organization GO:0007010 8.62 TUBB8 DOCK1

Sources for Chromosome 10q26 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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