MCID: CHR568
MIFTS: 37

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 58 12 30 15 74
Chromosome 6q25-Q25 Deletion Syndrome 58 13
6q25 Microdeletion Syndrome 12 60
Monosomy 6q25 12 60
Del(6)(q25) 60

Characteristics:

Orphanet epidemiological data:

60
6q25 microdeletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



Summaries for Chromosome 6q24-Q25 Deletion Syndrome

MalaCards based summary : Chromosome 6q24-Q25 Deletion Syndrome, also known as chromosome 6q25-q25 deletion syndrome, is related to chromosome 6q25 microdeletion syndrome and macular degeneration, age-related, 1. 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

Description 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:

60 33 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
2 microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000252
3 sensorineural hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000407
4 intellectual disability, mild 60 33 hallmark (90%) Very frequent (99-80%) HP:0001256
5 malar flattening 60 33 frequent (33%) Frequent (79-30%) HP:0000272
6 hypertelorism 60 33 frequent (33%) Frequent (79-30%) HP:0000316
7 agenesis of corpus callosum 60 33 frequent (33%) Frequent (79-30%) HP:0001274
8 high palate 60 33 frequent (33%) Frequent (79-30%) HP:0000218
9 failure to thrive 60 33 frequent (33%) Frequent (79-30%) HP:0001508
10 wide nasal bridge 60 33 frequent (33%) Frequent (79-30%) HP:0000431
11 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
12 abnormality of vision 60 33 frequent (33%) Frequent (79-30%) HP:0000504
13 epicanthus 60 33 frequent (33%) Frequent (79-30%) HP:0000286
14 abnormality of the pinna 60 33 frequent (33%) Frequent (79-30%) HP:0000377
15 low-set, posteriorly rotated ears 60 33 frequent (33%) Frequent (79-30%) HP:0000368
16 downslanted palpebral fissures 60 33 frequent (33%) Frequent (79-30%) HP:0000494
17 plagiocephaly 60 33 frequent (33%) Frequent (79-30%) HP:0001357
18 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
19 neonatal hypotonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001319
20 cleft palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000175
21 long philtrum 60 33 occasional (7.5%) Occasional (29-5%) HP:0000343
22 micrognathia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000347
23 ventriculomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0002119
24 clinodactyly of the 5th finger 60 33 occasional (7.5%) Occasional (29-5%) HP:0004209
25 upslanted palpebral fissure 60 33 occasional (7.5%) Occasional (29-5%) HP:0000582
26 camptodactyly of finger 60 33 occasional (7.5%) Occasional (29-5%) HP:0100490
27 rocker bottom foot 60 33 occasional (7.5%) Occasional (29-5%) HP:0001838
28 external genital hypoplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0003241
29 abnormality of cardiovascular system morphology 33 occasional (7.5%) HP:0030680
30 muscular hypotonia 60 Occasional (29-5%)
31 abnormality of the eye 60 Frequent (79-30%)
32 malformation of the heart and great vessels 60 Occasional (29-5%)
33 abnormality of nervous system morphology 60 Frequent (79-30%)

Clinical features from OMIM:

612863

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

27
# 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:

47
# 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 30

Anatomical Context for Chromosome 6q24-Q25 Deletion Syndrome

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

42
Heart, Eye

Publications for Chromosome 6q24-Q25 Deletion Syndrome

Articles related to Chromosome 6q24-Q25 Deletion Syndrome:

# Title Authors Year
1
Interstitial 6q25 microdeletion syndrome: ARID1B is the key gene. ( 26754677 )
2016

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 SMARCA2 SMARCA4 SMARCB1
2 npBAF complex GO:0071564 9.33 SMARCA2 SMARCA4 SMARCB1
3 SWI/SNF complex GO:0016514 9.26 ARID1B SMARCA2 SMARCA4 SMARCB1
4 nBAF complex GO:0071565 8.92 ARID1B SMARCA2 SMARCA4 SMARCB1

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

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

Sources for Chromosome 6q24-Q25 Deletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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