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PGD conditions

This table shows all PGD conditions currently approved and awaiting consideration by the HFEA.

Please note that we are updating this database, and some approved conditions may not be displayed. If you are unsure if a condition has been approved or not, please contact pgd@hfea.gov.uk.

Condition name Status OMIM number Documents
Mitochondrial Complex V (ATP synthase) Deficiency, Nuclear Type 2 (MC5DN2) approved 614052
Mitochondrial Complex V (ATP synthase) Deficiency, Nuclear Type 5 (MC5DN5) approved 618120
Mitochondrial Complex V Deficiency approved 604273
Mitochondrial DNA Depletion Syndrome 13 (MTDPS13) approved 615471
Mitochondrial DNA Depletion Syndrome 15 (MTDPS15) approved 617156
Mitochondrial DNA Depletion Syndrome 2 (myopathic type) (MTDPS2) approved 609560
Mitochondrial DNA Depletion Syndrome 3 (MTDPS3) approved 251880
Mitochondrial DNA depletion syndrome 4A (Alpers type) (MTDPS4A) approved 203700
Mitochondrial DNA Depletion Syndrome 5 (MTDPS5) approved 612073
Mitochondrial DNA Depletion Syndrome 6 (MTDPS6) approved 256810
Mitochondrial DNA Depletion Syndrome 7 (MTDPS7) approved 271245
Mitochondrial DNA Depletion Syndrome 8A (MTDPS8A) approved 612075
Mitochondrial DNA Depletion Syndrome 9 (MTDPS9) approved 245400
Mitochondrial Myopathy and Ataxia (MMYAT) approved OMIM #617675 (autosomal recessive)
Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D; Leigh syndrome) approved 616277
Mitochondrial Trifunctional Protein Deficiency approved 609015
Molybdenum Cofactor Deficiency Type B (MOCODB) approved 252160
Muckle-Wells Syndrome (MWS) approved 191900
Mucolipidosis type II approved 252500
Mucopolysaccharidosis III (MPS-III) Type A (Sanfilippo syndrome A) approved 252900