MCID: CHR568
MIFTS: 31

Chromosome 6q24-Q25 Deletion Syndrome

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Chromosome 6q24-Q25 Deletion Syndrome

MalaCards integrated aliases for Chromosome 6q24-Q25 Deletion Syndrome:

Name: Chromosome 6q24-Q25 Deletion Syndrome 56 12 29 13 15 71
6q25 Microdeletion Syndrome 12 58
Monosomy 6q25 12 58
Chromosome 6q25-Q25 Deletion Syndrome 56
Del(6)(q25) 58

Characteristics:

Orphanet epidemiological data:

58
6q25 microdeletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Chromosome 6q24-Q25 Deletion Syndrome

MalaCards based summary : Chromosome 6q24-Q25 Deletion Syndrome, also known as 6q25 microdeletion syndrome, is related to coffin-siris syndrome 1 and chromosome 6q25 microdeletion syndrome. An important gene associated with Chromosome 6q24-Q25 Deletion Syndrome is DEL6Q24Q25 (Chromosome 6q25-Q25 Deletion Syndrome). Affiliated tissues include heart and eye, and related phenotypes are global developmental delay and microcephaly

More information from OMIM: 612863

Related Diseases for Chromosome 6q24-Q25 Deletion Syndrome

Graphical network of the top 20 diseases related to Chromosome 6q24-Q25 Deletion Syndrome:



Diseases related to Chromosome 6q24-Q25 Deletion Syndrome

Symptoms & Phenotypes for Chromosome 6q24-Q25 Deletion Syndrome

Human phenotypes related to Chromosome 6q24-Q25 Deletion Syndrome:

58 31 (showing 33, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
3 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
4 intellectual disability, mild 58 31 hallmark (90%) Very frequent (99-80%) HP:0001256
5 malar flattening 58 31 frequent (33%) Frequent (79-30%) HP:0000272
6 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
7 agenesis of corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0001274
8 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
9 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
10 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
11 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
12 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
13 abnormality of vision 58 31 frequent (33%) Frequent (79-30%) HP:0000504
14 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
15 abnormality of the pinna 58 31 frequent (33%) Frequent (79-30%) HP:0000377
16 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
17 plagiocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0001357
18 seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0001250
19 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
20 neonatal hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001319
21 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
22 long philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000343
23 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
24 clinodactyly of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004209
25 upslanted palpebral fissure 58 31 occasional (7.5%) Occasional (29-5%) HP:0000582
26 rocker bottom foot 58 31 occasional (7.5%) Occasional (29-5%) HP:0001838
27 external genital hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003241
28 camptodactyly of finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0100490
29 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680
30 muscular hypotonia 58 Occasional (29-5%)
31 abnormality of the eye 58 Frequent (79-30%)
32 malformation of the heart and great vessels 58 Occasional (29-5%)
33 abnormality of nervous system morphology 58 Frequent (79-30%)

Clinical features from OMIM:

612863

Drugs & Therapeutics for Chromosome 6q24-Q25 Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 6q24-Q25 Deletion Syndrome

Genetic Tests for Chromosome 6q24-Q25 Deletion Syndrome

Genetic tests related to Chromosome 6q24-Q25 Deletion Syndrome:

# Genetic test Affiliating Genes
1 Chromosome 6q24-Q25 Deletion Syndrome 29

Anatomical Context for Chromosome 6q24-Q25 Deletion Syndrome

MalaCards organs/tissues related to Chromosome 6q24-Q25 Deletion Syndrome:

40
Heart, Eye

Publications for Chromosome 6q24-Q25 Deletion Syndrome

Articles related to Chromosome 6q24-Q25 Deletion Syndrome:

(showing 13, show less)
# Title Authors PMID Year
1
Haploinsufficiency of TAB2 causes congenital heart defects in humans. 56
20493459 2010
2
Interstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss. 56
19034313 2009
3
Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation. 56
17873121 2008
4
Paternal deletion 6q24.3: a new congenital anomaly syndrome associated with intrauterine growth failure, early developmental delay and characteristic facial appearance. 56
18203180 2008
5
A 2.6 Mb deletion of 6q24.3-25.1 in a patient with growth failure, cardiac septal defect, thin upperlip and asymmetric dysmorphic ears. 56
17512813 2007
6
Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features. 56
16955412 2006
7
Systematic re-examination of carriers of balanced reciprocal translocations: a strategy to search for candidate regions for common and complex diseases. 56
16493440 2006
8
Molecular cytogenetics of a de novo interstitial deletion of chromosome arm 6q in a developmentally normal girl. 56
10482870 1999
9
Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25. 56
9863602 1998
10
Interstitial 6q25 microdeletion syndrome: 46,XX,del(6)(q25.2q26). 61
31195430 2019
11
BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes. 61
30459321 2018
12
Interstitial 6q25 microdeletion syndrome: ARID1B is the key gene. 61
26754677 2016
13
Delineation of the interstitial 6q25 microdeletion syndrome: refinement of the critical causative region. 61
22585544 2012

Variations for Chromosome 6q24-Q25 Deletion Syndrome

Expression for Chromosome 6q24-Q25 Deletion Syndrome

Search GEO for disease gene expression data for Chromosome 6q24-Q25 Deletion Syndrome.

Pathways for Chromosome 6q24-Q25 Deletion Syndrome

GO Terms for Chromosome 6q24-Q25 Deletion Syndrome

Cellular components related to Chromosome 6q24-Q25 Deletion Syndrome according to GeneCards Suite gene sharing:

(showing 5, show less)
# Name GO ID Score Top Affiliating Genes
1 ribosome GO:0005840 9.5 MRPS23 MRPS16 MRPL40
2 mitochondrial inner membrane GO:0005743 9.43 SLC25A1 PRODH MRPS23 MRPS16 MRPL40 AIFM3
3 mitochondrion GO:0005739 9.28 ZDHHC8 TXNRD2 SLC25A1 PRODH MRPS23 MRPS16
4 SWI/SNF complex GO:0016514 9.26 SMARCA2 ARID1B
5 nBAF complex GO:0071565 9.16 SMARCA2 ARID1B

Biological processes related to Chromosome 6q24-Q25 Deletion Syndrome according to GeneCards Suite gene sharing:

(showing 4, show less)
# Name GO ID Score Top Affiliating Genes
1 mitochondrial translation GO:0032543 9.26 MRPS16 GATB
2 protein palmitoylation GO:0018345 9.16 ZDHHC8 ZDHHC14
3 mitochondrial translational termination GO:0070126 9.13 MRPS23 MRPS16 MRPL40
4 mitochondrial translational elongation GO:0070125 8.8 MRPS23 MRPS16 MRPL40

Molecular functions related to Chromosome 6q24-Q25 Deletion Syndrome according to GeneCards Suite gene sharing:

(showing 2, show less)
# Name GO ID Score Top Affiliating Genes
1 protein-cysteine S-palmitoyltransferase activity GO:0019706 8.96 ZDHHC8 ZDHHC14
2 palmitoyltransferase activity GO:0016409 8.62 ZDHHC8 ZDHHC14

Sources for Chromosome 6q24-Q25 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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