Vitamin metabolism disorders (Version 1.7)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 62 Entitiess
Green Green List (high evidence)	ABCD4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Methylmalonic aciduria and homocystinuria, cblJ type MIM#614857 disorder of vitamin B12 metabolism Tags
Green Green List (high evidence)	AMN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Imerslund-Grasbeck syndrome 2 MIM#618882 Disorders of cobalamin absorption, transport and metabolism Tags
Green Green List (high evidence)	COASY	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes neurodegeneration with brain iron accumulation 6 MONDO:0014290 Disorders of pantothenate and CoA metabolism Tags
Green Green List (high evidence)	CUBN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Proteinuria, chronic benign MIM#618884 Imerslund-Grasbeck syndrome 1 MIM#261100 Intrinsic factor receptor deficiency due to CUBN mutations (Disorders of cobalamin absorption, transport and metabolism) Tags treatable
Green Green List (high evidence)	CYP24A1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Other disorders of vitamin metabolism hypercalcemia, infantile, 1 MONDO:0020739 Tags
Green Green List (high evidence)	CYP27B1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes vitamin D-dependent rickets, type 1A MONDO:0020723 Other disorders of vitamin metabolism Tags
Green Green List (high evidence)	CYP2R1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes vitamin D hydroxylation-deficient rickets, type 1B MONDO:0010810 Other disorders of vitamin metabolism Tags
Green Green List (high evidence)	ETFA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes multiple acyl-CoA dehydrogenase deficiency MONDO:0009282 Disorders of mitochondrial fatty acid oxidation Tags
Green Green List (high evidence)	ETFB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes multiple acyl-CoA dehydrogenase deficiency MONDO:0009282 Disorders of mitochondrial fatty acid oxidation Tags
Green Green List (high evidence)	ETFDH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes multiple acyl-CoA dehydrogenase deficiency MONDO:0009282 Disorders of mitochondrial fatty acid oxidation Tags
Green Green List (high evidence)	FLAD1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes myopathy with abnormal lipid metabolism MONDO:0009703 Disorders of riboflavin metabolism Tags
Green Green List (high evidence)	FOLR1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Neurodegenerative syndrome due to cerebral folate transport deficiency MONDO:0013110 Disorders of folate metabolism Tags
Green Green List (high evidence)	GGCX	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes vitamin K-dependent clotting factors, combined deficiency of, type 1 MONDO:0010187 Other disorders of vitamin metabolism Tags
Green Green List (high evidence)	GIF	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Intrinsic factor deficiency MIM#261000 Disorders of cobalamin absorption, transport and metabolism Tags new gene name
Green Green List (high evidence)	HCFC1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature NHS GMS Phenotypes methylmalonic acidemia with homocystinuria, type cblX MONDO:0010657 disorder of cobalamin metabolism Tags
Green Green List (high evidence)	HLCS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes Disorders of biotin metabolism holocarboxylase synthetase deficiency MONDO:0009666 Tags
Green Green List (high evidence)	LMBRD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Methylmalonic aciduria and homocystinuria, cblF type MIM#277380 Disorders of cobalamin absorption, transport and metabolism Tags treatable
Green Green List (high evidence)	LRAT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Leber congenital amaurosis 14 Tags
Green Green List (high evidence)	MCEE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency MONDO:0009615 Tags
Green Green List (high evidence)	MMAA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of cobalamin metabolism methylmalonic aciduria, cblA type MONDO:0009613 Tags
Green Green List (high evidence)	MMAB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes methylmalonic aciduria, cblB type MONDO:0009614 Tags
Green Green List (high evidence)	MMACHC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Methylmalonic aciduria and homocystinuria, cblC type MIM#277400 Disorders of cobalamin absorption, transport and metabolism Tags treatable
Green Green List (high evidence)	MMADHC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Homocystinuria, cblD type, variant 1 MIM#277410 Methylmalonic aciduria and homocystinuria, cblD type MIM#277410 Methylmalonic aciduria, cblD type, variant 2 MIM#277410 Disorders of cobalamin absorption, transport and metabolism Tags treatable
Green Green List (high evidence)	MTHFD1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia MONDO:0060611 Disorders of folate metabolism Tags
Green Green List (high evidence)	MTHFR	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Homocystinuria due to methylene tetrahydrofolate reductase deficiency MONDO:0009353 Disorders of folate metabolism Tags
Green Green List (high evidence)	MTR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Homocystinuria-megaloblastic anemia, cblG complementation type MIM#250940 Organic aciduria Tags
Green Green List (high evidence)	MTRR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Homocystinuria-megaloblastic anemia, cbl E type MIM#236270 Disorders of the metabolism of sulphur amino acids Tags
Green Green List (high evidence)	MUT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency MONDO:0009612 Tags
Green Green List (high evidence)	NADK2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of niacin and NAD metabolism 2,4-dienoyl-CoA reductase deficiency, MIM# 616034 Tags
Green Green List (high evidence)	NAXD	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of niacin and NAD metabolism Mitochondrial disease MONDO:0044970 Tags
Green Green List (high evidence)	NAXE	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Apolipoprotein A-I binding protein deficiency Disorders of niacin and NAD metabolism Tags
Green Green List (high evidence)	NMNAT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of niacin and NAD metabolism Leber congenital amaurosis 9 MONDO:0012056 Tags
Green Green List (high evidence)	NNT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of niacin and NAD metabolism glucocorticoid deficiency 4 MONDO:0013874 Tags
Green Green List (high evidence)	PANK2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes pantothenate kinase-associated neurodegeneration MONDO:0009319 Disorders of pantothenate and CoA metabolism Tags
Green Green List (high evidence)	PLPBP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes pyridoxine-dependent epilepsy MONDO:0009945 Disorders of pyridoxine metabolism Tags
Green Green List (high evidence)	PNPO	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Pyridoxal phosphate-responsive seizures MONDO:0012407 Disorders of pyridoxine metabolism Tags
Green Green List (high evidence)	PRDX1	1 review 1 green	Other	Sources Expert Review Green Literature Phenotypes methylmalonic aciduria and homocystinuria type cblC MONDO:0010184 Tags digenic
Green Green List (high evidence)	RBP4	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Other disorders of vitamin metabolism microphthalmia, isolated, with coloboma 10 MONDO:0014635 Tags
Green Green List (high evidence)	RDH12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Leber congenital amaurosis 13 MONDO:0012990 Other disorders of vitamin metabolism Tags
Green Green List (high evidence)	RDH5	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Fundus albipunctatus Other disorders of vitamin metabolism Tags
Green Green List (high evidence)	RLBP1	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Other disorders of vitamin metabolism RLBP1-related retinopathy MONDO:0100444 Tags
Green Green List (high evidence)	RPE65	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of vitamin A metabolism RPE65-related recessive retinopathy MONDO:0100368 Tags
Green Green List (high evidence)	SLC25A32	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Exercise intolerance, riboflavin-responsive, MONDO:0014795 Disorders of riboflavin metabolism Tags
Green Green List (high evidence)	SLC2A10	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Arterial tortuosity syndrome MONDO:0008818 Other disorders of vitamin metabolism Tags
Green Green List (high evidence)	SLC46A1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hereditary folate malabsorption MONDO:0009238 Disorders of folate metabolism Tags
Green Green List (high evidence)	SLC52A2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Brown-Vialetto-van Laere syndrome 2 MONDO:0013867 Disorders of riboflavin metabolism Tags
Green Green List (high evidence)	SLC52A3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of riboflavin metabolism Brown-Vialetto-van Laere syndrome 1 MONDO:0024537 Tags
Green Green List (high evidence)	TCN2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Phenotypes Transcobalamin II deficiency, 275350 Tags
Green Green List (high evidence)	UBIAD1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Schnyder corneal dystrophy MONDO:0007374 MIM#611632 Other disorders of vitamin metabolism Tags
Green Green List (high evidence)	VDR	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes vitamin D-dependent rickets, type 2A MONDO:0010186, Other disorders of vitamin metabolism Tags
Green Green List (high evidence)	VKORC1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes vitamin K-dependent clotting factors, combined deficiency of, type 2 MONDO:0011837 Other disorders of vitamin metabolism Tags
Amber Amber List (moderate evidence)	CD320	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Methylmalonic acidemia due to transcobalamin receptor defect MONDO:0013341 Tags
Amber Amber List (moderate evidence)	STRA6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Matthew-Wood syndrome MONDO:0011010 Other disorders of vitamin metabolism Tags
Amber Amber List (moderate evidence)	TCN1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes transcobalamin I deficiency MONDO:0008659 Tags
Amber Amber List (moderate evidence)	ZNF143	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Expert Review Red Literature Phenotypes methylmalonic aciduria and homocystinuria MONDO:0016826 Tags
Red Red List (low evidence)	ALDH1A3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Isolated microphthalmia 8 MONDO:0014050 Other disorders of vitamin metabolism Tags
Red Red List (low evidence)	ALPL	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert review Green Phenotypes disorder of bone metabolism Hypophosphatasia Disorders of pyridoxine metabolism Tags
Red Red List (low evidence)	BCO1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes Other disorders of vitamin metabolism hereditary hypercarotenemia and vitamin A deficiency MONDO:0007272 Tags
Red Red List (low evidence)	EPHX1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Familial hypercholanemia MONDO:0011905 Other disorders of vitamin metabolism Tags
Red Red List (low evidence)	RBP3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Retinitis pigmentosa 66 MONDO:0014093 Other disorders of vitamin metabolism Tags
Red Red List (low evidence)	THAP11	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red Literature Phenotypes Methylmalonic aciduria, cblC type-like, MIM# 620940 Inborn disorder of cobalamin metabolism and transport, MONDO:0019220, THAP11-related Tags
Red Red List (low evidence)	TTPA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review green Phenotypes familial isolated deficiency of vitamin E MONDO:0010188 Other disorders of vitamin metabolism Tags

Vitamin metabolism disorders (Version 1.7)

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