MCID: CHR568
MIFTS: 35

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 57 12 29 13 15 72
6q25 Microdeletion Syndrome 12 59
Monosomy 6q25 12 59
Chromosome 6q25-Q25 Deletion Syndrome 57
Del(6)(q25) 59

Characteristics:

Orphanet epidemiological data:

59
6q25 microdeletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Disease Ontology 12 DOID:0060424
OMIM 57 612863
ICD10 via Orphanet 34 Q93.5
Orphanet 59 ORPHA251056
UMLS 72 C3150215

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), and among its related pathways/superpathways are Chromatin organization and Gastric cancer. 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:

59 32 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
2 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
3 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
4 intellectual disability, mild 59 32 hallmark (90%) Very frequent (99-80%) HP:0001256
5 malar flattening 59 32 frequent (33%) Frequent (79-30%) HP:0000272
6 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
7 agenesis of corpus callosum 59 32 frequent (33%) Frequent (79-30%) HP:0001274
8 high palate 59 32 frequent (33%) Frequent (79-30%) HP:0000218
9 failure to thrive 59 32 frequent (33%) Frequent (79-30%) HP:0001508
10 wide nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000431
11 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
12 abnormality of vision 59 32 frequent (33%) Frequent (79-30%) HP:0000504
13 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
14 abnormality of the pinna 59 32 frequent (33%) Frequent (79-30%) HP:0000377
15 low-set, posteriorly rotated ears 59 32 frequent (33%) Frequent (79-30%) HP:0000368
16 downslanted palpebral fissures 59 32 frequent (33%) Frequent (79-30%) HP:0000494
17 plagiocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0001357
18 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
19 neonatal hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001319
20 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
21 long philtrum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000343
22 micrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000347
23 ventriculomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002119
24 clinodactyly of the 5th finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0004209
25 upslanted palpebral fissure 59 32 occasional (7.5%) Occasional (29-5%) HP:0000582
26 camptodactyly of finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0100490
27 rocker bottom foot 59 32 occasional (7.5%) Occasional (29-5%) HP:0001838
28 external genital hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003241
29 abnormality of cardiovascular system morphology 32 occasional (7.5%) HP:0030680
30 muscular hypotonia 59 Occasional (29-5%)
31 abnormality of the eye 59 Frequent (79-30%)
32 malformation of the heart and great vessels 59 Occasional (29-5%)
33 abnormality of nervous system morphology 59 Frequent (79-30%)

Clinical features from OMIM:

612863

GenomeRNAi Phenotypes related to Chromosome 6q24-Q25 Deletion Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased Nanog expression GR00371-A-1 8.92 BANF1 SMARCA4 SMARCB1
2 Increased Nanog expression GR00371-A-5 8.92 BANF1

MGI Mouse Phenotypes related to Chromosome 6q24-Q25 Deletion Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.92 ARID1B SMARCA2 SMARCA4 SMARCB1

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:

41
Heart, Eye

Publications for Chromosome 6q24-Q25 Deletion Syndrome

Articles related to Chromosome 6q24-Q25 Deletion Syndrome:

(show all 13)
# Title Authors PMID Year
1
Haploinsufficiency of TAB2 causes congenital heart defects in humans. 8
20493459 2010
2
Interstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss. 8
19034313 2009
3
Paternal deletion 6q24.3: a new congenital anomaly syndrome associated with intrauterine growth failure, early developmental delay and characteristic facial appearance. 8
18203180 2008
4
Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation. 8
17873121 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. 8
17512813 2007
6
Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features. 8
16955412 2006
7
Systematic re-examination of carriers of balanced reciprocal translocations: a strategy to search for candidate regions for common and complex diseases. 8
16493440 2006
8
Molecular cytogenetics of a de novo interstitial deletion of chromosome arm 6q in a developmentally normal girl. 8
10482870 1999
9
Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25. 8
9863602 1998
10
Interstitial 6q25 microdeletion syndrome: 46,XX,del(6)(q25.2q26). 38
31195430 2019
11
BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes. 38
30459321 2018
12
Interstitial 6q25 microdeletion syndrome: ARID1B is the key gene. 38
26754677 2016
13
Delineation of the interstitial 6q25 microdeletion syndrome: refinement of the critical causative region. 38
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:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 9.43 SMARCB1 SMARCA4 SMARCA2
2 npBAF complex GO:0071564 9.33 SMARCB1 SMARCA4 SMARCA2
3 SWI/SNF complex GO:0016514 9.26 SMARCB1 SMARCA4 SMARCA2 ARID1B
4 nBAF complex GO:0071565 8.92 SMARCB1 SMARCA4 SMARCA2 ARID1B

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 9.8 SMARCB1 SMARCA4 SMARCA2 ARID1B
2 nervous system development GO:0007399 9.67 SMARCB1 SMARCA4 SMARCA2 ARID1B
3 chromatin organization GO:0006325 9.65 SMARCB1 SMARCA4 ARID1B
4 positive regulation of DNA-binding transcription factor activity GO:0051091 9.51 SMARCB1 SMARCA4
5 nucleosome disassembly GO:0006337 9.46 SMARCB1 SMARCA4
6 positive regulation by host of viral transcription GO:0043923 9.43 SMARCB1 SMARCA4
7 DNA integration GO:0015074 9.4 SMARCB1 BANF1
8 positive regulation of transcription of nucleolar large rRNA by RNA polymerase I GO:1901838 9.32 SMARCB1 SMARCA4
9 RNA polymerase I preinitiation complex assembly GO:0001188 9.26 SMARCB1 SMARCA4
10 positive regulation of glucose mediated signaling pathway GO:1902661 9.16 SMARCB1 SMARCA4
11 ATP-dependent chromatin remodeling GO:0043044 9.13 SMARCB1 SMARCA4 SMARCA2
12 chromatin remodeling GO:0006338 8.92 SMARCB1 SMARCA4 SMARCA2 ARID1B

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

# Name GO ID Score Top Affiliating Genes
1 protein N-terminus binding GO:0047485 9.46 SMARCA4 BANF1
2 RNA polymerase II distal enhancer sequence-specific DNA binding GO:0000980 9.43 SMARCB1 SMARCA4
3 p53 binding GO:0002039 9.4 SMARCB1 SMARCA4
4 nucleosomal DNA binding GO:0031492 9.37 SMARCB1 SMARCA4
5 DNA-dependent ATPase activity GO:0008094 9.32 SMARCA4 SMARCA2
6 Tat protein binding GO:0030957 9.26 SMARCB1 SMARCA4
7 RNA polymerase I CORE element sequence-specific DNA binding GO:0001164 9.16 SMARCB1 SMARCA4
8 hydrolase activity, acting on acid anhydrides GO:0016817 8.96 SMARCA4 SMARCA2
9 transcription coactivator activity GO:0003713 8.92 SMARCB1 SMARCA4 SMARCA2 ARID1B

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 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
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