Riboflavin Deficiency (RBFVD)

Alias:
Ariboflavinosis
Maternal Riboflavin Deficiency
Riboflavin Transporter Deficiency, Type 1
Vitamin B2 Deficiency
Rbfvd
Rtd1
Hyporiboflavinosis
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Riboflavin Deficiency, also known as ariboflavinosis, is related to riboflavin transporter deficiency and acyl-coa dehydrogenase, short-chain, deficiency of, and has symptoms including red chapped lips An important gene associated with Riboflavin Deficiency is SLC52A1 (Solute Carrier Family 52 Member 1), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. Affiliated tissues include bone marrow and tongue, and related phenotypes are hypothermia and hypotonia
Related ID:
MESH:D012257
ICD11:1569514773

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Adult
<1/1000000
16
92
3

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
No Data Found!
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