Choroideraemia
|
*300390
|
X-linked recessive
|
CHM
|
Xq21.2
|
miR-361
|
Complete miRNA deletion
|
[106, 107]
|
Dent disease
|
#300009
|
X-linked recessive
|
CLCN5
|
Xp11.22
|
miR-500; miR-600; miR-188; miR-362-5p; miR-362-3p; miR-500; miR-501; miR-502; miR-532-5p; miR-532-3p
|
Complete miRNA deletion
|
[108]
|
Epidermolysis bullosa
|
#226650
|
Autosomal recessive
|
COL17A1
|
10q24.3
|
miR-936
|
Complete miRNA deletion (one allele)
|
[109, 110]
|
Muscular dystrophy, Duchenne/Beker
|
#310200; #300376
|
X-linked recessive
|
DMD
|
Xp21.1
|
miR-548f-5
|
Complete miRNA deletion
|
[111–113]
|
Haemophilia A
|
+306700
|
X-linked recessive
|
F8
|
Xq28
|
miR-1184
|
Complete miRNA deletion
|
[114–116]
|
Beckwith-Wiedemann syndrome
|
#130650
|
Autosomal dominant
|
H19
|
11p15.5
|
miR-675
|
Complete miRNA deletion
|
[117]
|
Pantothenate kinase-associated neurodegeneration/Harp syndrome
|
#234200; #607236
|
Autosomal recessive
|
PANK2
|
20p13-p12.3
|
miR-103-2
|
Complete miRNA deletion
|
[118]
|
Polycystic kidney disease 1
|
#173900
|
Autosomal dominant
|
PKD1
|
16p13.3-p13.12
|
miR-1225
|
Complete miRNA deletion
|
[119]
|
HHH syndrome
|
#238970
|
Autosomal recessive
|
SLC25A15
|
13q14
|
miR-621
|
Complete miRNA deletion (one allele)
|
[120]
|
Down syndrome
|
#190685
|
---
|
Chromosome 21 trisomy
|
Chromosome 21
|
miR-99a; let-7c; miR-125b; miR-155; miR-802
|
miRNA triplication
|
[121–123]
|
Williams-Beuren syndrome
|
#194050
|
Autosomal dominant
|
7q11.23 deletion
|
7q11.23
|
miR-590
|
Complete miRNA deletion
|
[124, 125]
|
DiGeorge syndrome
|
#188400
|
Autosomal dominant
|
22q11.2 deletion
|
22q11.2
|
miR-648; miR-185; miR-1306; miR-1286; miR-649; miR-301b; miR-130b; miR-650
|
Complete miRNA deletion
|
[126–128]
|