MCID: CHR377
MIFTS: 34

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 57 12 29 13 6 44 72
Terminal Chromosome 10q26 Deletion Syndrome 57 12
Distal 10q Deletion Syndrome 12 15
Telomeric Deletion 10q 12 59
Distal Monosomy 10q 12 59
Monosomy 10qter 12 59
Distal Deletion 10q 59

Characteristics:

Orphanet epidemiological data:

59
distal monosomy 10q
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
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:

32
chromosome 10q26 deletion syndrome:
Inheritance autosomal dominant inheritance sporadic


Classifications:



External Ids:

Disease Ontology 12 DOID:0060390
OMIM 57 609625
MeSH 44 C567182
ICD10 33 Q93.5
ICD10 via Orphanet 34 Q93.5
UMLS via Orphanet 73 C2674937
Orphanet 59 ORPHA96148
MedGen 42 C2674937
UMLS 72 C2674937

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 alacrima, achalasia, and mental retardation 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

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 14)
# Related Disease Score Top Affiliating Genes
1 non-distal monosomy 10q 12.5
2 alacrima, achalasia, and mental retardation syndrome 10.2
3 hypertelorism 10.2
4 cryptorchidism, unilateral or bilateral 10.2
5 branchiootic syndrome 1 10.2
6 microcephaly 10.2
7 chromosomal triplication 10.2
8 chromosome 10q deletion 10.2
9 distal trisomy 10q 10.2
10 anus, imperforate 10.1
11 anal fistula 10.1
12 fabry disease 10.1
13 anhidrosis 10.1
14 persistent mullerian duct syndrome 9.2 NOTCH2 AMH

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:

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

Symptoms via clinical synopsis from OMIM:

57
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
facial asymmetry
triangular face

Genitourinary Internal Genitalia Male:
cryptorchidism

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

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

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

MGI Mouse Phenotypes related to Chromosome 10q26 Deletion Syndrome:

46
# 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 29

Anatomical Context for Chromosome 10q26 Deletion Syndrome

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. 8
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. 8
19253379 2009
3
A subterminal deletion of the long arm of chromosome 10: a clinical report and review. 8
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. 8
14598339 2003
5
Terminal deletion of chromosome 10q: clinical features and literature review. 8
10530074 1999
6
The partial monosomy 10q syndrome: report on two patients and review of the developmental data. 8
1920392 1991
7
Chromosome 10qter deletion syndrome: a review and report of three new cases. 8
2658586 1989
8
Behaviour disorder in monosomy 10qter. 8
3573005 1987
9
Deletions of the long arm of chromosome 10. 8
3970071 1985
10
Partial deletion 10q. 8
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. 38
28087245 2017
12
Chromosome 10q26 deletion syndrome: Two new cases and a review of the literature. 38
27779662 2016

Variations for Chromosome 10q26 Deletion Syndrome

ClinVar genetic disease variations for Chromosome 10q26 Deletion Syndrome:

6
# Gene Variation Type Significance SNP 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 10:117024753-124942806 :0-0

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 10.46 PGAM1 FGFR2

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 SNCA PGAM1 NOTCH2 GLA FGFR2 AMH

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 SNCA NOTCH2 FGFR2 DOCK1
2 cellular response to fibroblast growth factor stimulus GO:0044344 8.62 SNCA FGFR2

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....