Entry Search - 120700 120920 134370 134371 138470 217030 601440 608593 609814 610984 613779 615008 - OMIM
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Search: '120700 120920 134370 134371 138470 217030 601440 608593 609814 610984 613779 615008 (Search in: MIM number)'
Results: 12 entries.
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1:
* 120700. COMPLEMENT COMPONENT 3; C3
C3a, INCLUDED
Cytogenetic location: 19p13.3, Genomic coordinates (GRCh38): 19:6,677,704-6,720,650
Matching terms: 120700
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
19p13.3 {Hemolytic uremic syndrome, atypical, susceptibility to, 5} 612925 AD 3
{Macular degeneration, age-related, 9} 611378 3
C3 deficiency 613779 AR 3
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ICD+
SNOMEDCT: 771443008
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2:
* 120920. CD46 ANTIGEN; CD46
Cytogenetic location: 1q32.2, Genomic coordinates (GRCh38): 1:207,752,038-207,795,516
Matching terms: 120920
► Gene-Phenotype Relationships  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
1q32.2 {Hemolytic uremic syndrome, atypical, susceptibility to, 2} 612922 AD, AR 3
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3:
* 608593. COMPLEMENT FACTOR H-RELATED 5; CFHR5
Cytogenetic location: 1q31.3, Genomic coordinates (GRCh38): 1:196,975,034-197,009,678
Matching terms: 608593
► Gene-Phenotype Relationships  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
1q31.3 Nephropathy due to CFHR5 deficiency 614809 AD 3
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4:
# 609814. COMPLEMENT FACTOR H DEFICIENCY; CFHD
Cytogenetic location: 1q31.3
Matching terms: 609814
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
1q31.3 Complement factor H deficiency 609814 AD, AR 3 CFH 134370
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ICD+
SNOMEDCT: 234622003
ORPHA: 200421, 2134, 329918, 54370, 544472, 93571
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5:
# 610984. COMPLEMENT FACTOR I DEFICIENCY; CFID
Cytogenetic location: 4q25
Matching terms: 610984
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
4q25 Complement factor I deficiency 610984 AR 3 CFI 217030
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ICD+
SNOMEDCT: 234621005
ORPHA: 200418
DO: 0050419
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6:
# 613779. COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE; C3D
Cytogenetic location: 19p13.3
Matching terms: 613779
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
19p13.3 C3 deficiency 613779 AR 3 C3 120700
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ICD+
ORPHA: 280133
DO: 8354
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7:
# 615008. NEPHROTIC SYNDROME, TYPE 7; NPHS7
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7, INCLUDED; AHUS7, INCLUDED
Cytogenetic locations: 17q22,
Matching terms: 615008
► 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
17q22 Nephrotic syndrome, type 7 615008 AR 3 DGKE 601440
17q22 {Hemolytic uremic syndrome, atypical, susceptibility to, 7} 615008 AR 3 DGKE 601440
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Hemolytic uremic syndrome - PS235400 - 11 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
1q31.3 {Hemolytic uremic syndrome, atypical, susceptibility to, 1} AD, AR 3 235400 CFH 134370
1q31.3 {Hemolytic uremic syndrome, atypical, susceptibility to} AD, AR 3 235400 CFHR3 605336
1q31.3 {Hemolytic uremic syndrome, atypical, susceptibility to} AD, AR 3 235400 CFHR1 134371
1q32.2 {Hemolytic uremic syndrome, atypical, susceptibility to, 2} AD, AR 3 612922 MCP 120920
4q25 {Hemolytic uremic syndrome, atypical, susceptibility to, 3} AD 3 612923 CFI 217030
6p21.33 {Hemolytic uremic syndrome, atypical, susceptibility to, 4} AD 3 612924 CFB 138470
17q22 {Hemolytic uremic syndrome, atypical, susceptibility to, 7} AR 3 615008 DGKE 601440
17q22 Nephrotic syndrome, type 7 AR 3 615008 DGKE 601440
19p13.3 {Hemolytic uremic syndrome, atypical, susceptibility to, 5} AD 3 612925 C3 120700
20p11.21 {Hemolytic uremic syndrome, atypical, susceptibility to, 6} AD 3 612926 THBD 188040
Xq24 Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature XLR 3 301110 C1GALT1C1 300611
Nephrotic syndrome - PS256300 - 26 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
1q23.1 Nephrotic syndrome, type 23 AR 3 619201 KIRREL1 607428
1q23.3 Nephrotic syndrome, type 22 AR 3 619155 NOS1AP 605551
1q25.2 Nephrotic syndrome, type 2 AR 3 600995 PDCN 604766
1q42.13 Nephrotic syndrome, type 18 AR 3 618177 NUP133 607613
3p21.31 Nephrotic syndrome, type 5, with or without ocular abnormalities AR 3 614199 LAMB2 150325
6p21.2 Nephrotic syndrome, type 24 AR 3 619263 DAAM2 606627
7q21.11 Nephrotic syndrome, type 15 AR 3 617609 MAGI2 606382
7q33 ?Nephrotic syndrome, type 13 AR 3 616893 NUP205 614352
10q22.1 RENI syndrome AR 3 617575 SGPL1 603729
10q23.33 Nephrotic syndrome, type 3 AR 3 610725 PLCE1 608414
11p13 Nephrotic syndrome, type 4 AD 3 256370 WT1 607102
11p11.2 ?Nephrotic syndrome, type 19 AR 3 618178 NUP160 607614
12p12.3 Nephrotic syndrome, type 6 AR 3 614196 PTPRO 600579
12q14.1 Nephrotic syndrome, type 21 AR 3 618594 AVIL 613397
12q15 Nephrotic syndrome, type 11 AR 3 616730 NUP107 607617
16p13.13 Nephrotic syndrome, type 10 AR 3 615861 EMP2 602334
16q13 Nephrotic syndrome, type 12 AR 3 616892 NUP93 614351
17q22 Nephrotic syndrome, type 7 AR 3 615008 DGKE 601440
17q22 {Hemolytic uremic syndrome, atypical, susceptibility to, 7} AR 3 615008 DGKE 601440
17q25.1 Nephrotic syndrome, type 17 AR 3 618176 NUP85 170285
17q25.3 Nephrotic syndrome, type 8 AR 3 615244 ARHGDIA 601925
19p13.2 Nephrotic syndrome, type 16 AR 3 617783 KANK2 614610
19q13.12 Nephrotic syndrome, type 1 AR 3 256300 NPHS1 602716
19q13.2 Nephrotic syndrome, type 9 AR 3 615573 COQ8B 615567
20q13.33 Nephrotic syndrome, type 26 AR 3 620049 LAMA5 601033
Xq22.3 Nephrotic syndrome, type 20 XL 3 301028 TBC1D8B 301027
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ICD+
ORPHA: 2134, 329903, 357008, 54370, 544472
DO: 0080388
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8:
* 134370. COMPLEMENT FACTOR H; CFH
FACTOR H-LIKE 1, INCLUDED; FHL1, INCLUDED
Cytogenetic location: 1q31.3, Genomic coordinates (GRCh38): 1:196,652,043-196,747,504
Matching terms: 134370
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
1q31.3 {Hemolytic uremic syndrome, atypical, susceptibility to, 1} 235400 AD, AR 3
{Macular degeneration, age-related, 4} 610698 AD 3
Basal laminar drusen 126700 AD 3
Complement factor H deficiency 609814 AD, AR 3
▲ Close
ICD+
SNOMEDCT: 234622003, 312926005
▲ Close

9:
* 134371. COMPLEMENT FACTOR H-RELATED 1; CFHR1
Cytogenetic location: 1q31.3, Genomic coordinates (GRCh38): 1:196,819,731-196,832,189
Matching terms: 134371
► Gene-Phenotype Relationships  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
1q31.3 {Hemolytic uremic syndrome, atypical, susceptibility to} 235400 AD, AR 3
{Macular degeneration, age-related, reduced risk of} 603075 AD 3
▲ Close

10:
* 138470. COMPLEMENT FACTOR B; CFB
Cytogenetic location: 6p21.33, Genomic coordinates (GRCh38): 6:31,946,095-31,952,084
Matching terms: 138470
► Gene-Phenotype Relationships  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
6p21.33 ?Complement factor B deficiency 615561 AR 3
{Hemolytic uremic syndrome, atypical, susceptibility to, 4} 612924 AD 3
{Macular degeneration, age-related, 14, reduced risk of} 615489 DD 3
▲ Close

« First  |  ‹ Previous  |  Next ›  |  Last »
Search: 120700 120920 134370 134371 138470 217030 601440 608593 609814 610984 613779 615008 (Search in: MIM number)
Results: 12 entries.

1:
* 120700. COMPLEMENT COMPONENT 3; C3
C3a, INCLUDED
Cytogenetic location: 19p13.3, Genomic coordinates (GRCh38): 19:6,677,704-6,720,650
Matching terms: 120700

2:
* 120920. CD46 ANTIGEN; CD46
Cytogenetic location: 1q32.2, Genomic coordinates (GRCh38): 1:207,752,038-207,795,516
Matching terms: 120920

3:
* 608593. COMPLEMENT FACTOR H-RELATED 5; CFHR5
Cytogenetic location: 1q31.3, Genomic coordinates (GRCh38): 1:196,975,034-197,009,678
Matching terms: 608593

4:
# 609814. COMPLEMENT FACTOR H DEFICIENCY; CFHD
Cytogenetic location: 1q31.3
Matching terms: 609814

5:
# 610984. COMPLEMENT FACTOR I DEFICIENCY; CFID
Cytogenetic location: 4q25
Matching terms: 610984

6:
# 613779. COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE; C3D
Cytogenetic location: 19p13.3
Matching terms: 613779

7:
# 615008. NEPHROTIC SYNDROME, TYPE 7; NPHS7
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7, INCLUDED; AHUS7, INCLUDED
Cytogenetic locations: 17q22,
Matching terms: 615008

8:
* 134370. COMPLEMENT FACTOR H; CFH
FACTOR H-LIKE 1, INCLUDED; FHL1, INCLUDED
Cytogenetic location: 1q31.3, Genomic coordinates (GRCh38): 1:196,652,043-196,747,504
Matching terms: 134370

9:
* 134371. COMPLEMENT FACTOR H-RELATED 1; CFHR1
Cytogenetic location: 1q31.3, Genomic coordinates (GRCh38): 1:196,819,731-196,832,189
Matching terms: 134371

10:
* 138470. COMPLEMENT FACTOR B; CFB
Cytogenetic location: 6p21.33, Genomic coordinates (GRCh38): 6:31,946,095-31,952,084
Matching terms: 138470


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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