MCID: 10Q004
MIFTS: 13

10q26 Deletion Syndrome

Aliases & Classifications for 10q26 Deletion Syndrome

MalaCards integrated aliases for 10q26 Deletion Syndrome:

Name: 10q26 Deletion Syndrome 25
Terminal Chromosome 10q26 Deletion Syndrome 25
Chromosome 10q26 Deletion Syndrome 25
Distal 10q Deletion Syndrome 25
Telomeric Deletion 10 25
Distal Monosomy 10q 25
Distal Deletion 10q 25
Monosomy 10qter 25
10qter Deletion 25

Summaries for 10q26 Deletion Syndrome

Genetics Home Reference : 25 10q26 deletion syndrome is a condition that results from the loss (deletion) of a small piece of chromosome 10 in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated 10q26. The signs and symptoms of 10q26 deletion syndrome vary widely, even among affected members of the same family. Among the more common features associated with this chromosomal change are distinctive facial features, mild to moderate intellectual disability, growth problems, and developmental delay. People with 10q26 deletion syndrome often have delayed development of speech and of motor skills such as sitting, crawling, and walking. Some have limited speech throughout life. Affected individuals may experience seizures, attention-deficit/hyperactivity disorder (ADHD), poor impulse control (impulsivity), or exhibit autistic behaviors that affect communication and social interaction. A range of facial features is seen in people with 10q26 deletion syndrome, but not all affected individuals have these features. Facial features of people with 10q26 deletion syndrome may include a prominent or beaked nose, a broad nasal bridge, a small jaw (micrognathia), malformed ears that are low set, a thin upper lip, and an unusually small head size (microcephaly). Many affected individuals have widely spaced eyes (hypertelorism) that do not look in the same direction (strabismus). Some people with this condition have a short neck with extra folds of skin (webbed neck). Less common signs and symptoms can occur in 10q26 deletion syndrome. Skeletal problems include a spine that curves to the side (scoliosis), limited movement in the elbows or other joints, or curved fifth fingers and toes (clinodactyly). Slow growth before and after birth can also occur in affected individuals. Males with this condition may have genital abnormalities, such as a small penis (micropenis), undescended testes (cryptorchidism), or the urethra opening on the underside of the penis (hypospadias). Some people with 10q26 deletion syndrome have kidney abnormalities, heart defects, breathing problems, recurrent infections, or hearing or vision problems.

MalaCards based summary : 10q26 Deletion Syndrome, also known as terminal chromosome 10q26 deletion syndrome, is related to chromosome 10q26 deletion syndrome and non-distal monosomy 10q. An important gene associated with 10q26 Deletion Syndrome is GLA (Galactosidase Alpha). Affiliated tissues include eye, heart and kidney.

Related Diseases for 10q26 Deletion Syndrome

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

(show all 24)
# Related Disease Score Top Affiliating Genes
1 chromosome 10q26 deletion syndrome 12.7
2 non-distal monosomy 10q 12.5
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 alacrima, achalasia, and mental retardation syndrome 10.2
11 anus, imperforate 10.1
12 anal fistula 10.1
13 charcot-marie-tooth disease, demyelinating, type 1a 10.1
14 fragile site 10q25 10.1
15 sensorineural hearing loss 10.1
16 coloboma of macula 10.0
17 fabry disease 10.0
18 hypogonadotropic hypogonadism 10.0
19 anhidrosis 10.0
20 ventricular septal defect 10.0
21 heart septal defect 10.0
22 hypogonadism 10.0
23 hypogonadotropism 10.0
24 hypotonia 10.0

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



Diseases related to 10q26 Deletion Syndrome

Symptoms & Phenotypes for 10q26 Deletion Syndrome

Drugs & Therapeutics for 10q26 Deletion Syndrome

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

Genetic Tests for 10q26 Deletion Syndrome

Anatomical Context for 10q26 Deletion Syndrome

MalaCards organs/tissues related to 10q26 Deletion Syndrome:

40
Eye, Heart, Kidney, Skin, Testes

Publications for 10q26 Deletion Syndrome

Articles related to 10q26 Deletion Syndrome:

# Title Authors PMID Year
1
WDR11 is another causative gene for coloboma, cardiac anomaly and growth retardation in 10q26 deletion syndrome. 61
30711679 2019
2
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
3
Chromosome 10q26 deletion syndrome: Two new cases and a review of the literature. 61
27779662 2016
4
Hearing loss, coloboma and left ventricular enlargement in a boy with an interstitial 10q26 deletion. 61
27125467 2016
5
Clinical comparison of 10q26 overlapping deletions: delineating the critical region for urogenital anomalies. 61
25655674 2015

Variations for 10q26 Deletion Syndrome

Expression for 10q26 Deletion Syndrome

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

Pathways for 10q26 Deletion Syndrome

GO Terms for 10q26 Deletion Syndrome

Sources for 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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