MCID: CHR259
MIFTS: 6

Chromosome 6q25 Microdeletion Syndrome

Categories: Rare diseases

Aliases & Classifications for Chromosome 6q25 Microdeletion Syndrome

MalaCards integrated aliases for Chromosome 6q25 Microdeletion Syndrome:

Name: Chromosome 6q25 Microdeletion Syndrome 53
6q25 Microdeletion Syndrome 53
Monosomy 6q25 53
Deletion 6q25 53

Classifications:



Summaries for Chromosome 6q25 Microdeletion Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 251056Disease definition6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.EpidemiologyIt has been clinically and molecularly characterized in 4 patients.Clinical descriptionAll of them presented with microcephaly, developmental delay, dysmorphic features and hearing loss, whereas two of them had agenesis of the corpus callosum. Dysmorphic features include midface hypoplasia, hypertelorism, broad nasal root and posteriorly rotated ears.EtiologyThis syndrome is caused by an interstitial deletion encompassing 6q25.2-q25.3. These de novo deletions were characterized by comparative genomic hybridization (CGH) microarray and fluorescence in situ hybridization (FISH). They have a variable size with the smallest region of overlap (SRO) of 3.52 Mb.Visit the Orphanet disease page for more resources.

MalaCards based summary : Chromosome 6q25 Microdeletion Syndrome, also known as 6q25 microdeletion syndrome, is related to chromosome 6q24-q25 deletion syndrome.

Related Diseases for Chromosome 6q25 Microdeletion Syndrome

Diseases related to Chromosome 6q25 Microdeletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 chromosome 6q24-q25 deletion syndrome 11.7

Symptoms & Phenotypes for Chromosome 6q25 Microdeletion Syndrome

Drugs & Therapeutics for Chromosome 6q25 Microdeletion Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 6q25 Microdeletion Syndrome

Genetic Tests for Chromosome 6q25 Microdeletion Syndrome

Anatomical Context for Chromosome 6q25 Microdeletion Syndrome

Publications for Chromosome 6q25 Microdeletion Syndrome

Articles related to Chromosome 6q25 Microdeletion Syndrome:

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

Variations for Chromosome 6q25 Microdeletion Syndrome

Expression for Chromosome 6q25 Microdeletion Syndrome

Search GEO for disease gene expression data for Chromosome 6q25 Microdeletion Syndrome.

Pathways for Chromosome 6q25 Microdeletion Syndrome

GO Terms for Chromosome 6q25 Microdeletion Syndrome

Sources for Chromosome 6q25 Microdeletion 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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