Disease table



Disease phenotype
OMIM
Gene symbol (chromosome)
protein
Reccurrent myoglobinuria, autosomal recessive (9.32)
268200
LPIN1 (2p25.1)
Lipin 1 (phosphatidic acid phosphatase 1)



Recessive neonatal isolated DC (10.70)
SDHA (5p15)
Succinate dehydrogenase complex, subunit A, flavoprotein (Fp) (M)



Refsum disease, adult (13.103)
266500
PHYH (10q13)
Phytanoyl-CoA 2-hydroxylase



Refsum disease, adult (13.104)
266500
PEX7 (6q21-q22)
Peroxisomal biogenesis factor 7



Restrictive cardiomyopathy, 2 (10.97)
609578
? - (10)
Restrictive cardiomyopathy, 6 (10.101)
619433
KIF20A (5q31.2)
Kinesin family member 20A



restrictive dermopathy (1.3, 1.4, 10.39, 2.17, 14.81)
275210
LMNA (1q22)
Lamin A/C



Rigid spince syndrome related to HMGCS1 (2.18)
142940
HMGCS1 (5p12)
3-hydroxy-3-methylglutaryl-coa synthase 1



Rigid spine syndrome (1.7, 5.33, 5.34, 5.35)
602771
FHL1 (Xq26.3)
Four and a half LIM domain 1



Rigid spine syndrome (2.13, 5.13)
602771
SELENON (1p36.13)
Selenoprotein N1



Rigid spine syndrome related to FHL1 (1.7, 5.33, 5.34, 5.35)
FHL1 (Xq26.3)
Four and a half LIM domain 1



Rigid spine syndrome related to SEPN1 (2.13, 5.13)
SELENON (1p36.13)
Selenoprotein N1



Rimmed vacuole myopathy (14.58, 12.24, 4.27, 4.28)
HSPB8 (12q24.23)
Heat shock 27kDa protein 8



Rippling muscle disease (1.20, 6.6, 5.32, 6.7, 4.12, 10.144, 10.16)
606072
CAV3 (3p25.3)
Caveolin 3



Rippling muscle disease, dominant (6.5)
600332
? - (1q41)
Romano-Ward syndrome (10.156, 10.136, 10.160, 10.154)
192500
KCNQ1 (11p15.5-p15.4)
Potassium voltage-gated channel, KQT-like subfamily, member 1