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 54
6q25 Microdeletion Syndrome 54
Monosomy 6q25 54
Deletion 6q25 54

Classifications:



Summaries for Chromosome 6q25 Microdeletion Syndrome

NIH Rare Diseases : 54 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 11.8

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 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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