Entry Search - 115310 154950 168000 171300 185470 600857 601650 602413 602690 605373 613019 613403 614165 - OMIM
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Search: '115310 154950 168000 171300 185470 600857 601650 602413 602690 605373 613019 613403 614165 (Search in: MIM number)'
Results: 13 entries.
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1:
# 115310. PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 4; PPGL4
Cytogenetic location: 1p36.13
Matching terms: 115310
► 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
1p36.13 Pheochromocytoma/paraganglioma syndrome 4 115310 AD 3 SDHB 185470
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ICD+
ORPHA: 29072
DO: 0050773
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2:
# 605373. PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 3; PPGL3
Cytogenetic location: 1q23.3
Matching terms: 605373
► 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
1q23.3 Pheochromocytoma/paraganglioma syndrome 3 605373 AD 3 SDHC 602413
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ICD+
ORPHA: 29072
DO: 0050773
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3:
* 613019. SUCCINATE DEHYDROGENASE COMPLEX ASSEMBLY FACTOR 2; SDHAF2
Cytogenetic location: 11q12.2, Genomic coordinates (GRCh38): 11:61,430,124-61,446,733
Matching terms: 613019
► Gene-Phenotype Relationships  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
11q12.2 Pheochromocytoma/paraganglioma syndrome 2 601650 AD 3
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4:
* 613403. TRANSMEMBRANE PROTEIN 127; TMEM127
Cytogenetic location: 2q11.2, Genomic coordinates (GRCh38): 2:96,248,514-96,265,997
Matching terms: 613403
► Gene-Phenotype Relationships  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
2q11.2 {Pheochromocytoma, susceptibility to} 171300 AD 3
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5:
# 614165. PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 5; PPGL5
Cytogenetic location: 5p15.33
Matching terms: 614165
► 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
5p15.33 Pheochromocytoma/paraganglioma syndrome 5 614165 AD 3 SDHA 600857
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ICD+
ORPHA: 29072
DO: 0050773
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6:
* 154950. MAX PROTEIN; MAX
Cytogenetic location: 14q23.3, Genomic coordinates (GRCh38): 14:65,006,101-65,102,695
Matching terms: 154950
► Gene-Phenotype Relationships  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
14q23.3 {Pheochromocytoma, susceptibility to} 171300 AD 3
Polydactyly-macrocephaly syndrome 620712 AD 3
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7:
# 168000. PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 1; PPGL1
Cytogenetic location: 11q23.1
Matching terms: 168000
► 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
11q23.1 Pheochromocytoma/paraganglioma syndrome 1 168000 AD 3 SDHD 602690
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ICD+
SNOMEDCT: 127030001, 302834008, 51747000
ORPHA: 29072
DO: 0050773
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8:
# 171300. PHEOCHROMOCYTOMA
Cytogenetic locations: 2q11.2, 3p25.3, 10q11.21, 14q23.3
Matching terms: 171300
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
2q11.2 {Pheochromocytoma, susceptibility to} 171300 AD 3 TMEM127 613403
3p25.3 Pheochromocytoma 171300 AD 3 VHL 608537
10q11.21 Pheochromocytoma 171300 AD 3 RET 164761
14q23.3 {Pheochromocytoma, susceptibility to} 171300 AD 3 MAX 154950
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ICD+
ORPHA: 29072
DO: 0050771
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9:
* 185470. SUCCINATE DEHYDROGENASE COMPLEX, IRON-SULFUR SUBUNIT B; SDHB
Cytogenetic location: 1p36.13, Genomic coordinates (GRCh38): 1:17,018,722-17,054,032
Matching terms: 185470
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
1p36.13 Gastrointestinal stromal tumor 606764 AD, IC 3
Mitochondrial complex II deficiency, nuclear type 4 619224 AR 3
Paraganglioma and gastric stromal sarcoma 606864 3
Pheochromocytoma/paraganglioma syndrome 4 115310 AD 3
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ICD+
SNOMEDCT: 1187383001, 128755003, 420120006, 722377004
ICD10CM: C49.A
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10:
* 600857. SUCCINATE DEHYDROGENASE COMPLEX, FLAVOPROTEIN SUBUNIT A; SDHA
Cytogenetic location: 5p15.33, Genomic coordinates (GRCh38): 5:218,320-268,746
Matching terms: 600857
► Gene-Phenotype Relationships  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
5p15.33 Cardiomyopathy, dilated, 1GG 613642 AR 3
Mitochondrial complex II deficiency, nuclear type 1 252011 AR 3
Neurodegeneration with ataxia and late-onset optic atrophy 619259 AD 3
Pheochromocytoma/paraganglioma syndrome 5 614165 AD 3
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« First  |  ‹ Previous  |  Next ›  |  Last »
Search: 115310 154950 168000 171300 185470 600857 601650 602413 602690 605373 613019 613403 614165 (Search in: MIM number)
Results: 13 entries.

1:
# 115310. PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 4; PPGL4
Cytogenetic location: 1p36.13
Matching terms: 115310

2:
# 605373. PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 3; PPGL3
Cytogenetic location: 1q23.3
Matching terms: 605373

3:
* 613019. SUCCINATE DEHYDROGENASE COMPLEX ASSEMBLY FACTOR 2; SDHAF2
Cytogenetic location: 11q12.2, Genomic coordinates (GRCh38): 11:61,430,124-61,446,733
Matching terms: 613019

4:
* 613403. TRANSMEMBRANE PROTEIN 127; TMEM127
Cytogenetic location: 2q11.2, Genomic coordinates (GRCh38): 2:96,248,514-96,265,997
Matching terms: 613403

5:
# 614165. PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 5; PPGL5
Cytogenetic location: 5p15.33
Matching terms: 614165

6:
* 154950. MAX PROTEIN; MAX
Cytogenetic location: 14q23.3, Genomic coordinates (GRCh38): 14:65,006,101-65,102,695
Matching terms: 154950

7:
# 168000. PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 1; PPGL1
Cytogenetic location: 11q23.1
Matching terms: 168000

8:
# 171300. PHEOCHROMOCYTOMA
Cytogenetic locations: 2q11.2, 3p25.3, 10q11.21, 14q23.3
Matching terms: 171300

9:
* 185470. SUCCINATE DEHYDROGENASE COMPLEX, IRON-SULFUR SUBUNIT B; SDHB
Cytogenetic location: 1p36.13, Genomic coordinates (GRCh38): 1:17,018,722-17,054,032
Matching terms: 185470

10:
* 600857. SUCCINATE DEHYDROGENASE COMPLEX, FLAVOPROTEIN SUBUNIT A; SDHA
Cytogenetic location: 5p15.33, Genomic coordinates (GRCh38): 5:218,320-268,746
Matching terms: 600857


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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