Entry Search - 211500 211530 607882 607883 613350 614707 615026 - OMIM
View Results as: Gene Map Table   Clinical Synopsis  

Search: '211500 211530 607882 607883 613350 614707 615026 (Search in: MIM number)'
Results: 7 entries.

1:
* 607882. SOLUTE CARRIER FAMILY 52 (RIBOFLAVIN TRANSPORTER), MEMBER 2; SLC52A2
Cytogenetic location: 8q24.3, Genomic coordinates (GRCh38): 8:144,358,552-144,361,272
Matching terms: 607882
► Gene-Phenotype Relationships  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
8q24.3 Brown-Vialetto-Van Laere syndrome 2 614707 AR 3
▲ Close

2:
* 607883. SOLUTE CARRIER FAMILY 52 (RIBOFLAVIN TRANSPORTER), MEMBER 1; SLC52A1
Cytogenetic location: 17p13.2, Genomic coordinates (GRCh38): 17:5,032,602-5,042,414
Matching terms: 607883
► Gene-Phenotype Relationships  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
17p13.2 Riboflavin deficiency 615026 AD 3
▲ Close

3:
* 613350. SOLUTE CARRIER FAMILY 52 (RIBOFLAVIN TRANSPORTER), MEMBER 3; SLC52A3
Cytogenetic location: 20p13, Genomic coordinates (GRCh38): 20:760,080-780,033
Matching terms: 613350
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
20p13 ?Fazio-Londe disease 211500 AR 3
Brown-Vialetto-Van Laere syndrome 1 211530 AR 3
▲ Close
ICD+
SNOMEDCT: 230246005
ICD10CM: G12.1
▲ Close

4:
# 614707. BROWN-VIALETTO-VAN LAERE SYNDROME 2; BVVLS2
Cytogenetic location: 8q24.3
Matching terms: 614707
► Phenotype-Gene Relationships  ► Phenotypic Series  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
8q24.3 Brown-Vialetto-Van Laere syndrome 2 614707 AR 3 SLC52A2 607882
▲ Close
Brown-Vialetto-Van Laere syndrome - PS211530 - 2 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
8q24.3 Brown-Vialetto-Van Laere syndrome 2 AR 3 614707 SLC52A2 607882
20p13 Brown-Vialetto-Van Laere syndrome 1 AR 3 211530 SLC52A3 613350
▲ Close
ICD+
ORPHA: 572550, 97229
DO: 0080786
▲ Close

5:
# 615026. RIBOFLAVIN DEFICIENCY; RBFVD
Cytogenetic location: 17p13.2
Matching terms: 615026
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
17p13.2 Riboflavin deficiency 615026 AD 3 SLC52A1 607883
▲ Close
ICD+
ORPHA: 411712
▲ Close

6:
# 211500. FAZIO-LONDE DISEASE
Cytogenetic location: 20p13
Matching terms: 211500
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
20p13 ?Fazio-Londe disease 211500 AR 3 SLC52A3 613350
▲ Close
ICD+
SNOMEDCT: 230246005
ICD10CM: G12.1
ORPHA: 97229
DO: 0080632
▲ Close

7:
# 211530. BROWN-VIALETTO-VAN LAERE SYNDROME 1; BVVLS1
Cytogenetic location: 20p13
Matching terms: 211530
► Phenotype-Gene Relationships  ► Phenotypic Series  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
20p13 Brown-Vialetto-Van Laere syndrome 1 211530 AR 3 SLC52A3 613350
▲ Close
Brown-Vialetto-Van Laere syndrome - PS211530 - 2 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
8q24.3 Brown-Vialetto-Van Laere syndrome 2 AR 3 614707 SLC52A2 607882
20p13 Brown-Vialetto-Van Laere syndrome 1 AR 3 211530 SLC52A3 613350
▲ Close
ICD+
ORPHA: 572543, 97229
DO: 0080785
▲ Close
Search: 211500 211530 607882 607883 613350 614707 615026 (Search in: MIM number)
Results: 7 entries.

1:
* 607882. SOLUTE CARRIER FAMILY 52 (RIBOFLAVIN TRANSPORTER), MEMBER 2; SLC52A2
Cytogenetic location: 8q24.3, Genomic coordinates (GRCh38): 8:144,358,552-144,361,272
Matching terms: 607882

2:
* 607883. SOLUTE CARRIER FAMILY 52 (RIBOFLAVIN TRANSPORTER), MEMBER 1; SLC52A1
Cytogenetic location: 17p13.2, Genomic coordinates (GRCh38): 17:5,032,602-5,042,414
Matching terms: 607883

3:
* 613350. SOLUTE CARRIER FAMILY 52 (RIBOFLAVIN TRANSPORTER), MEMBER 3; SLC52A3
Cytogenetic location: 20p13, Genomic coordinates (GRCh38): 20:760,080-780,033
Matching terms: 613350

4:
# 614707. BROWN-VIALETTO-VAN LAERE SYNDROME 2; BVVLS2
Cytogenetic location: 8q24.3
Matching terms: 614707

5:
# 615026. RIBOFLAVIN DEFICIENCY; RBFVD
Cytogenetic location: 17p13.2
Matching terms: 615026

6:
# 211500. FAZIO-LONDE DISEASE
Cytogenetic location: 20p13
Matching terms: 211500

7:
# 211530. BROWN-VIALETTO-VAN LAERE SYNDROME 1; BVVLS1
Cytogenetic location: 20p13
Matching terms: 211530


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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2025 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2025 Johns Hopkins University.
Printed: March 5, 2025