Term to split:
riboflavin transporter deficiency MONDO:0008891
Name for new terms: Note - when a term should be split, there should be 2+ new terms. Please list the new labels below.
List properties that should be moved to new term: Note- ORDO tends to represent the generic class. Most properties (such as synonyms and database cross references) will move to the generic term. Synonyms that end in "1", "2", etc. should move to subclass.
Fazio-Londe syndrome
Brown-Vialetto-van Laere syndrome
Your nano-attribution (ORCID)
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NOTES
Riboflavin Transporter Deficiency
per GeneReviews NBK299312 this encompasses multiple conditions (some of which are currently exact syns in Mondo)
"...RTD2 and RTD3 (caused by biallelic pathogenic variants in SLC52A2 and SLC52A3, respectively) is a well-defined phenotypic continuum of motor, sensory, and cranial nerve neuronopathy that encompasses the previously recognized phenotypes Brown-Vialetto-Van Laere (BVVL) syndrome and Fazio-Londe syndrome.
One case report (which requires additional confirmation) suggests that biallelic expression of pathogenic variants in SLC52A1 (i.e., RTD1) is associated with infantile onset of riboflavin-responsive seizures associated with hyperammonemia."
Proposed hierarchy of terms under Riboflavin transporter deficiency (based on GeneReviews terms and OMIM IDs)
MIM:211500 FAZIO-LONDE DISEASE (Causative gene per OMIM is SLC52A3); MONDO ID is MONDO:0100428
MIM:PS211530 BROWN-VIALETTO-VAN LAERE SYNDROME
MIM:211530 BROWN-VIALETTO-VAN LAERE SYNDROME 1; BVVLS1 (Causative gene per OMIM is SLC52A3)
MIM:614707 BROWN-VIALETTO-VAN LAERE SYNDROME 2; BVVLS2 (Causative gene per OMIM is SLC52A2)
MIM:615026 RIBOFLAVIN DEFICIENCY; RBFVD (Causative gene per OMIM is SLC52A1)
(Separate question to consider: are all forms of MONDO:0008890 progressive bulbar palsy necessarily Riboflavin transporter deficiencies? Does the Fazio-Londe parent concept have to be under RTD? Medical input needed, I think?)
Term to split:
riboflavin transporter deficiency MONDO:0008891
Name for new terms: Note - when a term should be split, there should be 2+ new terms. Please list the new labels below.
List properties that should be moved to new term: Note- ORDO tends to represent the generic class. Most properties (such as synonyms and database cross references) will move to the generic term. Synonyms that end in "1", "2", etc. should move to subclass.
Fazio-Londe syndrome
Brown-Vialetto-van Laere syndrome
Your nano-attribution (ORCID)
If you don't have an ORCID, you can sign up for one here
NOTES
Riboflavin Transporter Deficiency
per GeneReviews NBK299312 this encompasses multiple conditions (some of which are currently exact syns in Mondo)
"...RTD2 and RTD3 (caused by biallelic pathogenic variants in SLC52A2 and SLC52A3, respectively) is a well-defined phenotypic continuum of motor, sensory, and cranial nerve neuronopathy that encompasses the previously recognized phenotypes Brown-Vialetto-Van Laere (BVVL) syndrome and Fazio-Londe syndrome.
One case report (which requires additional confirmation) suggests that biallelic expression of pathogenic variants in SLC52A1 (i.e., RTD1) is associated with infantile onset of riboflavin-responsive seizures associated with hyperammonemia."
Proposed hierarchy of terms under Riboflavin transporter deficiency (based on GeneReviews terms and OMIM IDs)
MIM:211500 FAZIO-LONDE DISEASE (Causative gene per OMIM is SLC52A3); MONDO ID is MONDO:0100428
MIM:PS211530 BROWN-VIALETTO-VAN LAERE SYNDROME
MIM:211530 BROWN-VIALETTO-VAN LAERE SYNDROME 1; BVVLS1 (Causative gene per OMIM is SLC52A3)
MIM:614707 BROWN-VIALETTO-VAN LAERE SYNDROME 2; BVVLS2 (Causative gene per OMIM is SLC52A2)
MIM:615026 RIBOFLAVIN DEFICIENCY; RBFVD (Causative gene per OMIM is SLC52A1)
(Separate question to consider: are all forms of MONDO:0008890 progressive bulbar palsy necessarily Riboflavin transporter deficiencies? Does the Fazio-Londe parent concept have to be under RTD? Medical input needed, I think?)