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Table 3.

Selected features of inherited diseases discussed.

	Imerslund-Gräsbeck   Syndrome (MGA1)	*cblE*	*cblG*	Methylenetetrahydrofolate   Reductase (Severe Deficiency)
*http//www3.ncbi.nlm.nih.gov/Omim/
**postulated to be associated with common diseases
OMIM No.*	261100	236270	250940	236250
Gene(s)	CUBM  AMN	MTRR	MTR	MTHFR
Chromosome(s)	10p12.1  14q32	5p15.2–p15.3	1q43	1p36.3
Gene product(s)	Cubilin  Amnionless	Methionine synthase  reductase	Methionine   synthase	Methylenetetrahydrofolate  reductase
Serum cobalamin	Low	Normal	Normal	Normal
Serum folate	Normal	Normal	Normal	Normal or Low
Homocysteine elevation	Not a major feature	Yes	Yes	Yes
Megaloblastic anemia	Yes	Yes	Yes	No
Developmental delay	No	Yes	Yes	Yes
Proteinuria	Yes	No	No	No
Common polymorphisms**		66A→ G		2756A→ G 677C→ T  1298A→ C

	Imerslund-Gräsbeck   Syndrome (MGA1)	*cblE*	*cblG*	Methylenetetrahydrofolate   Reductase (Severe Deficiency)
*http//www3.ncbi.nlm.nih.gov/Omim/
**postulated to be associated with common diseases
OMIM No.*	261100	236270	250940	236250
Gene(s)	CUBM  AMN	MTRR	MTR	MTHFR
Chromosome(s)	10p12.1  14q32	5p15.2–p15.3	1q43	1p36.3
Gene product(s)	Cubilin  Amnionless	Methionine synthase  reductase	Methionine   synthase	Methylenetetrahydrofolate  reductase
Serum cobalamin	Low	Normal	Normal	Normal
Serum folate	Normal	Normal	Normal	Normal or Low
Homocysteine elevation	Not a major feature	Yes	Yes	Yes
Megaloblastic anemia	Yes	Yes	Yes	No
Developmental delay	No	Yes	Yes	Yes
Proteinuria	Yes	No	No	No
Common polymorphisms**		66A→ G		2756A→ G 677C→ T  1298A→ C