MCID: CHR377
MIFTS: 33

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 58 12 30 13 6 45 74
Terminal Chromosome 10q26 Deletion Syndrome 58 12
Distal 10q Deletion Syndrome 12 15
Telomeric Deletion 10q 12 60
Distal Monosomy 10q 12 60
Monosomy 10qter 12 60
Distal Deletion 10q 60

Characteristics:

Orphanet epidemiological data:

60
distal monosomy 10q
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
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:

33
chromosome 10q26 deletion syndrome:
Inheritance autosomal dominant inheritance sporadic


Classifications:



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 persistent mullerian duct syndrome, and has symptoms including seizures and nasal flaring. An important gene associated with Chromosome 10q26 Deletion Syndrome is DEL10Q26 (Chromosome 10q Deletion Syndrome), and among its related pathways/superpathways is Central carbon metabolism in cancer. Related phenotypes are global developmental delay and craniosynostosis

Description 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:

# Related Disease Score Top Affiliating Genes
1 non-distal monosomy 10q 12.4
2 persistent mullerian duct syndrome 9.5 AMH NOTCH2

Symptoms & Phenotypes for Chromosome 10q26 Deletion Syndrome

Human phenotypes related to Chromosome 10q26 Deletion Syndrome:

33 (show top 50) (show all 52)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 33 frequent (33%) HP:0001263
2 craniosynostosis 33 occasional (7.5%) HP:0001363
3 hypertelorism 33 HP:0000316
4 low-set ears 33 HP:0000369
5 short neck 33 HP:0000470
6 frontal bossing 33 HP:0002007
7 clinodactyly 33 HP:0030084
8 intellectual disability 33 HP:0001249
9 seizures 33 HP:0001250
10 muscular hypotonia 33 HP:0001252
11 wide nasal bridge 33 HP:0000431
12 delayed speech and language development 33 HP:0000750
13 microcephaly 33 HP:0000252
14 sensorineural hearing impairment 33 HP:0000407
15 short stature 33 HP:0004322
16 abnormality of metabolism/homeostasis 33 HP:0001939
17 long philtrum 33 HP:0000343
18 micrognathia 33 HP:0000347
19 strabismus 33 HP:0000486
20 patent ductus arteriosus 33 HP:0001643
21 epicanthus 33 HP:0000286
22 dolichocephaly 33 HP:0000268
23 cryptorchidism 33 HP:0000028
24 wide intermamillary distance 33 HP:0006610
25 postnatal growth retardation 33 HP:0008897
26 webbed neck 33 HP:0000465
27 specific learning disability 33 HP:0001328
28 low posterior hairline 33 HP:0002162
29 atrial septal defect 33 HP:0001631
30 protruding ear 33 HP:0000411
31 small nail 33 HP:0001792
32 aggressive behavior 33 HP:0000718
33 downslanted palpebral fissures 33 HP:0000494
34 upslanted palpebral fissure 33 HP:0000582
35 vesicoureteral reflux 33 HP:0000076
36 thin upper lip vermilion 33 HP:0000219
37 convex nasal ridge 33 HP:0000444
38 triangular face 33 HP:0000325
39 facial asymmetry 33 HP:0000324
40 toe syndactyly 33 HP:0001770
41 micropenis 33 HP:0000054
42 generalized hypotonia 33 HP:0001290
43 scrotal hypoplasia 33 HP:0000046
44 hyperactivity 33 HP:0000752
45 prominent nose 33 HP:0000448
46 limited elbow extension 33 HP:0001377
47 radial deviation of finger 33 HP:0009466
48 small for gestational age 33 HP:0001518
49 broad-based gait 33 HP:0002136
50 short attention span 33 HP:0000736

Symptoms via clinical synopsis from OMIM:

58
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
Head And Neck Face:
long philtrum
micrognathia
triangular face
facial asymmetry

Growth Other:
postnatal growth retardation

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

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

Genitourinary Internal Genitalia Male:
cryptorchidism

Skin Nails Hair Hair:
low posterior hairline

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

MGI Mouse Phenotypes related to Chromosome 10q26 Deletion Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.88 ATE1 DOCK1 FGFR2 GLA NOTCH2 SNCA
2 homeostasis/metabolism MP:0005376 9.87 AMH ATE1 DOCK1 FGFR2 GLA NOTCH2
3 endocrine/exocrine gland MP:0005379 9.85 AMH ATE1 DOCK1 FGFR2 NOTCH2 SNCA
4 muscle MP:0005369 9.65 ATE1 DOCK1 FGFR2 GLA NOTCH2
5 neoplasm MP:0002006 9.46 AMH DOCK1 FGFR2 NOTCH2
6 no phenotypic analysis MP:0003012 9.35 AMH DOCK1 FGFR2 NOTCH2 SNCA
7 renal/urinary system MP:0005367 9.1 ATE1 DOCK1 FGFR2 GLA NOTCH2 SNCA

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 30

Anatomical Context for Chromosome 10q26 Deletion Syndrome

Publications for Chromosome 10q26 Deletion Syndrome

Articles related to Chromosome 10q26 Deletion Syndrome:

# Title Authors Year
1
The severe clinical phenotype for a heterozygous Fabry female patient correlates to the methylation of non-mutated allele associated with chromosome 10q26 deletion syndrome. ( 28087245 )
2017
2
Chromosome 10q26 deletion syndrome: Two new cases and a review of the literature. ( 27779662 )
2016

Variations for Chromosome 10q26 Deletion Syndrome

ClinVar genetic disease variations for Chromosome 10q26 Deletion Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 subset of 56 genes:BAG3; EMX2 GRCh37/hg19 10q25.3-26.13(chr10: 117024753-124942806) copy number loss Pathogenic GRCh37 Chromosome 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

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

# Super pathways Score Top Affiliating Genes
1 10.44 FGFR2 PGAM1

GO Terms for Chromosome 10q26 Deletion Syndrome

Cellular components related to Chromosome 10q26 Deletion Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.1 AMH FGFR2 GLA NOTCH2 PGAM1 SNCA

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

# Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 9.26 DOCK1 FGFR2 NOTCH2 SNCA
2 cellular response to fibroblast growth factor stimulus GO:0044344 8.62 FGFR2 SNCA

Sources for Chromosome 10q26 Deletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
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
Content
Loading form....