Entry Search - 300071 300110 300278 310500 - OMIM
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Search: '300071 300110 300278 310500 (Search in: MIM number)'
Results: 4 entries.

1:
# 310500. NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A; CSNB1A
NYCTALOPIA, INCLUDED
Cytogenetic location: Xp11.4
Matching terms: 310500
► 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
Xp11.4 Night blindness, congenital stationary (complete), 1A, X-linked 310500 XLR 3 NYX 300278
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Night blindness, congenital stationary - PS310500 - 15 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
2q37.1 Oguchi disease-1 AR 3 258100 SAG 181031
3p21.31 Night blindness, congenital stationary, autosomal dominant 3 AD 3 610444 GNAT1 139330
3p21.31 Night blindness, congenital stationary, type 1G AR 3 616389 GNAT1 139330
3q22.1 Night blindness, congenital stationary, autosomal dominant 1 AD 3 610445 RHO 180380
4p16.3 Night blindness, congenital stationary, autosomal dominant 2 AD 3 163500 PDE6B 180072
4q25 Night blindness, congenital stationary (complete), 1F, autosomal recessive AR 3 615058 LRIT3 615004
5q35.3 Night blindness, congenital stationary (complete), 1B, autosomal recessive AR 3 257270 GRM6 604096
12p13.31 Night blindness, congenital stationary, type 1H AR 3 617024 GNB3 139130
13q34 Oguchi disease-2 3 613411 GRK1 180381
15q13.3 Night blindness, congenital stationary (complete), 1C, autosomal recessive AR 3 613216 TRPM1 603576
15q22.31 Night blindness, congenital stationary (complete), 1D, autosomal recessive AR 3 613830 SLC24A1 603617
17p13.1 Night blindness, congenital stationary, type 1I AR 3 618555 GUCY2D 600179
17q12 Night blindness, congenital stationary (complete), 1E, autosomal recessive AR 3 614565 GPR179 614515
Xp11.4 Night blindness, congenital stationary (complete), 1A, X-linked XLR 3 310500 NYX 300278
Xp11.23 Night blindness, congenital stationary (incomplete), 2A, X-linked XL 3 300071 CACNA1F 300110
▲ Close
ICD+
ORPHA: 215
DO: 0110870
▲ Close

2:
# 300071. NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A; CSNB2A
Cytogenetic location: Xp11.23
Matching terms: 300071
► 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
Xp11.23 Night blindness, congenital stationary (incomplete), 2A, X-linked 300071 XL 3 CACNA1F 300110
▲ Close
Night blindness, congenital stationary - PS310500 - 15 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
2q37.1 Oguchi disease-1 AR 3 258100 SAG 181031
3p21.31 Night blindness, congenital stationary, autosomal dominant 3 AD 3 610444 GNAT1 139330
3p21.31 Night blindness, congenital stationary, type 1G AR 3 616389 GNAT1 139330
3q22.1 Night blindness, congenital stationary, autosomal dominant 1 AD 3 610445 RHO 180380
4p16.3 Night blindness, congenital stationary, autosomal dominant 2 AD 3 163500 PDE6B 180072
4q25 Night blindness, congenital stationary (complete), 1F, autosomal recessive AR 3 615058 LRIT3 615004
5q35.3 Night blindness, congenital stationary (complete), 1B, autosomal recessive AR 3 257270 GRM6 604096
12p13.31 Night blindness, congenital stationary, type 1H AR 3 617024 GNB3 139130
13q34 Oguchi disease-2 3 613411 GRK1 180381
15q13.3 Night blindness, congenital stationary (complete), 1C, autosomal recessive AR 3 613216 TRPM1 603576
15q22.31 Night blindness, congenital stationary (complete), 1D, autosomal recessive AR 3 613830 SLC24A1 603617
17p13.1 Night blindness, congenital stationary, type 1I AR 3 618555 GUCY2D 600179
17q12 Night blindness, congenital stationary (complete), 1E, autosomal recessive AR 3 614565 GPR179 614515
Xp11.4 Night blindness, congenital stationary (complete), 1A, X-linked XLR 3 310500 NYX 300278
Xp11.23 Night blindness, congenital stationary (incomplete), 2A, X-linked XL 3 300071 CACNA1F 300110
▲ Close
ICD+
ORPHA: 215
DO: 0110871
▲ Close

3:
* 300110. CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-1F SUBUNIT; CACNA1F
Cytogenetic location: Xp11.23, Genomic coordinates (GRCh38): X:49,205,063-49,233,340
Matching terms: 300110
► Gene-Phenotype Relationships  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
Xp11.23 Aland Island eye disease 300600 XL 3
Cone-rod dystrophy, X-linked, 3 300476 XLR 3
Night blindness, congenital stationary (incomplete), 2A, X-linked 300071 XL 3
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4:
* 300278. NYCTALOPIN; NYX
Cytogenetic location: Xp11.4, Genomic coordinates (GRCh38): X:41,447,343-41,475,652
Matching terms: 300278
► Gene-Phenotype Relationships  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
Xp11.4 Night blindness, congenital stationary (complete), 1A, X-linked 310500 XLR 3
▲ Close
Search: 300071 300110 300278 310500 (Search in: MIM number)
Results: 4 entries.

1:
# 310500. NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A; CSNB1A
NYCTALOPIA, INCLUDED
Cytogenetic location: Xp11.4
Matching terms: 310500

2:
# 300071. NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A; CSNB2A
Cytogenetic location: Xp11.23
Matching terms: 300071

3:
* 300110. CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-1F SUBUNIT; CACNA1F
Cytogenetic location: Xp11.23, Genomic coordinates (GRCh38): X:49,205,063-49,233,340
Matching terms: 300110

4:
* 300278. NYCTALOPIN; NYX
Cytogenetic location: Xp11.4, Genomic coordinates (GRCh38): X:41,447,343-41,475,652
Matching terms: 300278


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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 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® 1966-2024 Johns Hopkins University.
Printed: June 1, 2024