MCID: CHR568
MIFTS: 23

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 15 73
Chromosome 6q25-Q25 Deletion Syndrome 57 13
6q25 Microdeletion Syndrome 12 59
Monosomy 6q25 12 59
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:



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. 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 malar flattening and hypertelorism

Description from OMIM: 612863

Related Diseases for Chromosome 6q24-Q25 Deletion Syndrome

Diseases related to Chromosome 6q24-Q25 Deletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 chromosome 6q25 microdeletion syndrome 12.5

Symptoms & Phenotypes for Chromosome 6q24-Q25 Deletion Syndrome

Clinical features from OMIM:

612863

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

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

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:

# 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

Sources for Chromosome 6q24-Q25 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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