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 57 12 29 13 44 73
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:
Onset and clinical course phenotypic variability
Inheritance autosomal dominant inheritance sporadic


Classifications:



Summaries for Chromosome 10q26 Deletion Syndrome

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 hypertelorism and low-set ears

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 9.7 AMH NOTCH2

Symptoms & Phenotypes for Chromosome 10q26 Deletion Syndrome

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
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

Human phenotypes related to Chromosome 10q26 Deletion Syndrome:

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

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:

# 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

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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