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Online Mendelian Inheritance in Man
Last uploaded:
August 28, 2024
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| Preferred Name | RIBOFLAVIN DEFICIENCY | |
| Synonyms |
RBFVD RTD1 RIBOFLAVIN TRANSPORTER DEFICIENCY, TYPE 1 |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/615026 |
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| altLabel |
RBFVD RTD1 RIBOFLAVIN TRANSPORTER DEFICIENCY, TYPE 1
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|
| cui |
C5779638
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|
| Gene Locus |
17p13.2
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|
| Gene Symbol |
GPR172B PAR2 GPCR42 SLC52A1 RBFVD FLJ10060
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| Has manifestation | ||
| MIMTYPEMEANING |
Phenotype description, molecular basis known.
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|
| notation |
615026
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|
| OMIM Entry Type |
3
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|
| OMIM MimType Value |
pound
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|
| prefLabel |
RIBOFLAVIN DEFICIENCY
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|
| Scope Statement |
One family has been reported (last curated January 2013) [MISCELLANEOUS] Mutation carrier is clinically asymptomatic [MISCELLANEOUS] Offspring of mutation carrier may show clinical signs of secondary riboflavin deficiency in the neonatal period [MISCELLANEOUS] Riboflavin supplementation normalizes any clinical or biochemical changes [MISCELLANEOUS] Caused by mutation in the solute carrier family 52 (riboflavin transporter), member 1, gene (SLC52A1, 607883.0001) [MOLECULAR BASIS]
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|
| tui |
T047
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