Riboflavin deficiency

Preferred Label : Riboflavin deficiency;

Symbol : RBFVD;

CISMeF acronym : RBFVD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : RTD1; Riboflavin transporter deficiency, type 1;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the solute carrier family 52 (riboflavin transporter), member 1, gene (SLC52A1, 607883.0001);

Laboratory abnormalities : Increased plasma acylcarnitine levels (if untreated);

Prefixed ID : #615026;

Details

Origin ID

615026;

UMLS CUI

C5779638;

Automatic exact mappings (from CISMeF team)
- Low levels of vitamin B2 [HPO term]
- Maternal riboflavin deficiency [ORDO Disease]
- Riboflavin Deficiency [DeCS]
- Riboflavin deficiency [PASCAL descriptor]
- Transient neonatal multiple acyl-CoA dehydrogenase deficiency [ORDO Disease]
- riboflavin deficiency [DO Concept]
Currated CISMeF NLP mapping
- Ariboflavinosis [ICD-9 code]
- Ariboflavinosis (disorder) [SNOMED CT concept]
- Riboflavin deficiency [ICD-10 Sub-category]
- Riboflavin deficiency [ICD-10 Sub-category (who)]
- Riboflavin deficiency [MedDRA LLT]
- Vitamin B2 deficiency [MedDRA Preferred Term]
- Vitamin B2 deficiency [ICD-11 Category]
- ariboflavinosis [SNOMED Notion]
- riboflavin deficiency [MeSH Descriptor]
- riboflavin deficiency [MeSH concept]
- vitamin b 2 deficiency [Disease (Nov.)]
Genes related to phenotype
- Solute carrier family 52 (riboflavin transporter), member 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Dicarboxylic aciduria [HPO term]
- Elevated circulating acylcarnitine concentration [HPO term]
- Hypoglycemia [HPO term]
- Hypothermia [HPO term]
- Hypotonia [HPO term]
- Lactic acidosis [HPO term]
- Lethargy [HPO term]
- Low levels of vitamin B2 [HPO term]
- Metabolic acidosis [HPO term]
- Poor suck [HPO term]
ORDO concept(s)
- Maternal riboflavin deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ariboflavinosis [ICD-9 code]
- Ariboflavinosis [MedDRA LLT]
- Ariboflavinosis (disorder) [SNOMED CT concept]
- Low levels of vitamin B2 [HPO term]
- Riboflavin deficiency [ICD-10 Sub-category (who)]
- Riboflavin deficiency [MedDRA LLT]
- Riboflavin deficiency [ICD-10 Sub-category]
- Vitamin B2 deficiency [MedDRA Preferred Term]
- Vitamin B2 deficiency [ICD-11 Category]
- ariboflavinosis [SNOMED Notion]
- riboflavin deficiency [MeSH Descriptor]
- riboflavin deficiency [MeSH concept]
- riboflavin deficiency [DO Concept]
- vitamin b 2 deficiency [Disease (Nov.)]

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