Phenotype: Abnormality of vitamin B metabolism (HP:0004340)
Associated genes and diseases:
gene_symbol: CBLIF
disease_id: ORPHA:332
disease_name: Congenital intrinsic factor deficiency
Congenital pernicious anemia
Gastric intrinsic factor deficiency
Hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency
IFD
Intrinsic factor deficiency
gene_symbol: MTRR
disease_id: OMIM:236270
disease_name: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE
gene_symbol: ACSF3
disease_id: ORPHA:289504
disease_name: Combined malonic and methylmalonic acidemia
CMAMMA
Combined malonic and methylmalonic aciduria
gene_symbol: SUCLG1
disease_id: ORPHA:17
disease_name: Fatal infantile lactic acidosis with methylmalonic aciduria
gene_symbol: SUCLA2
disease_id: OMIM:612073
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA)
gene_symbol: LMBRD1
disease_id: OMIM:277380
disease_name: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE
gene_symbol: MMACHC
disease_id: ORPHA:79282
disease_name: Methylmalonic acidemia with homocystinuria, type cblC
CblC defect
Cobalamin C defect
Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC
Methylmalonic aciduria with homocystinuria, type cblC
gene_symbol: MMACHC
disease_id: OMIM:277400
disease_name: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE
gene_symbol: HCFC1
disease_id: OMIM:309541
disease_name: METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE
gene_symbol: ALDH6A1
disease_id: OMIM:614105
disease_name: METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
gene_symbol: CD320
disease_id: OMIM:613646
disease_name: METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT
gene_symbol: ABCD4
disease_id: OMIM:614857
disease_name: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE
gene_symbol: MMADHC
disease_id: OMIM:277410
disease_name: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE
gene_symbol: MMAB
disease_id: OMIM:251110
disease_name: METHYLMALONIC ACIDURIA, cblB TYPE
gene_symbol: MMUT
disease_id: OMIM:251000
disease_name: METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY
gene_symbol: PRDX1
disease_id: OMIM:277400
disease_name: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE
gene_symbol: MMAA
disease_id: OMIM:251100
disease_name: METHYLMALONIC ACIDURIA, cblA TYPE
gene_symbol: MTHFD1
disease_id: OMIM:617780
disease_name: COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
gene_symbol: CCND1
disease_id: ORPHA:29073
disease_name: Multiple myeloma
Kahler disease
Medullary plasmacytoma
Myelomatosis
Plasma cell myeloma
gene_symbol: TTR
disease_id: OMIM:115430
disease_name: CARPAL TUNNEL SYNDROME
gene_symbol: ALDH4A1
disease_id: ORPHA:79101
disease_name: Hyperprolinemia type 2
Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency
gene_symbol: FTCD
disease_id: ORPHA:51208
disease_name: Formiminoglutamic aciduria
FTCD deficiency
Formiminotransferase cyclodeaminase deficiency
Glutamate formiminotransferase deficiency
gene_symbol: RNU4-2
disease_id: OMIM:620851
disease_name: OMIM:620851
gene_symbol: PNPLA8
disease_id: OMIM:251950
disease_name: MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS
gene_symbol: DHFR
disease_id: OMIM:613839
disease_name: MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY
gene_symbol: SPTBN1
disease_id: OMIM:619475
disease_name: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES
gene_symbol: SLC19A1
disease_id: OMIM:620603
disease_name: IMMUNODEFICIENCY 114, FOLATE-RESPONSIVE
gene_symbol: FAS
disease_id: ORPHA:3261
disease_name: Autoimmune lymphoproliferative syndrome
ALPS
Canale-Smith syndrome
gene_symbol: FASLG
disease_id: ORPHA:3261
disease_name: Autoimmune lymphoproliferative syndrome
ALPS
Canale-Smith syndrome
gene_symbol: CASP10
disease_id: ORPHA:3261
disease_name: Autoimmune lymphoproliferative syndrome
ALPS
Canale-Smith syndrome
gene_symbol: TCN2
disease_id: OMIM:275350
disease_name: TRANSCOBALAMIN II DEFICIENCY
gene_symbol: RNF13
disease_id: ORPHA:544503
disease_name: RNF13-related severe early-onset epileptic encephalopathy
RNF13-related severe EOEE
gene_symbol: MTR
disease_id: OMIM:250940
disease_name: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE
gene_symbol: ABCD1
disease_id: ORPHA:139399
disease_name: Adrenomyeloneuropathy
gene_symbol: GRM7
disease_id: OMIM:618922
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES
gene_symbol: HLA-DQA1
disease_id: OMIM:212750
disease_name: CELIAC DISEASE, SUSCEPTIBILITY TO, 1
gene_symbol: HLA-DQB1
disease_id: OMIM:212750
disease_name: CELIAC DISEASE, SUSCEPTIBILITY TO, 1
gene_symbol: AIRE
disease_id: ORPHA:3453
disease_name: Autoimmune polyendocrinopathy type 1
APECED syndrome
APS type 1
APS1
Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome
Autoimmune polyendocrine syndrome type 1
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome
Autoimmune polyglandular syndrome type 1
HAM syndrome
Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome
MEDAC syndrome
Multiple endocrine deficiency-Addison disease-candidiasis syndrome
gene_symbol: GUCY2C
disease_id: OMIM:614616
disease_name: DIARRHEA 6
gene_symbol: SIM1
disease_id: ORPHA:369873
disease_name: Obesity due to SIM1 deficiency
gene_symbol: DLAT
disease_id: ORPHA:79244
disease_name: Pyruvate dehydrogenase E2 deficiency
Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency
Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency
Pyruvate dehydrogenase complex component E2 deficiency
gene_symbol: SLC52A1
disease_id: OMIM:615026
disease_name: RIBOFLAVIN DEFICIENCY
gene_symbol: OTUD5
disease_id: OMIM:301056
disease_name: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED
gene_symbol: ZNF699
disease_id: OMIM:619488
disease_name: DEGCAGS SYNDROME
gene_symbol: CUBN
disease_id: ORPHA:35858
disease_name: Imerslund-Gräsbeck syndrome
Familial megaloblastic anemia
Selective cobalamin malabsorption with proteinuria
gene_symbol: CUBN
disease_id: OMIM:261100
disease_name: IMERSLUND-GRASBECK SYNDROME 1
gene_symbol: AMN
disease_id: ORPHA:35858
disease_name: Imerslund-Gräsbeck syndrome
Familial megaloblastic anemia
Selective cobalamin malabsorption with proteinuria
gene_symbol: SLC46A1
disease_id: OMIM:229050
disease_name: FOLATE MALABSORPTION, HEREDITARY