Entry Search - 155500 162900 171834 602501 612918 613089 615108 - OMIM
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Search: '155500 162900 171834 602501 612918 613089 615108 (Search in: MIM number)'
Results: 7 entries.

1:
* 171834. PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, ALPHA; PIK3CA
Cytogenetic location: 3q26.32, Genomic coordinates (GRCh38): 3:179,148,126-179,240,093
Matching terms: 171834
► Gene-Phenotype Relationships  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
3q26.32 Breast cancer, somatic 114480 3
Cerebral cavernous malformations 4, somatic 619538 3
CLAPO syndrome, somatic 613089 3
CLOVE syndrome, somatic 612918 3
Colorectal cancer, somatic 114500 3
Cowden syndrome 5 615108 3
Gastric cancer, somatic 613659 3
Hemifacial myohyperplasia, somatic 606773 3
Hepatocellular carcinoma, somatic 114550 3
Keratosis, seborrheic, somatic 182000 3
Macrodactyly, somatic 155500 3
Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 602501 3
Nevus, epidermal, somatic 162900 3
Nonsmall cell lung cancer, somatic 211980 3
Ovarian cancer, somatic 167000 3
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2:
# 613089. CAPILLARY MALFORMATION OF THE LOWER LIP, LYMPHATIC MALFORMATION OF FACE AND NECK, ASYMMETRY OF FACE AND LIMBS, AND PARTIAL/GENERALIZED OVERGROWTH
Cytogenetic location: 3q26.32
Matching terms: 613089
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
3q26.32 CLAPO syndrome, somatic 613089 3 PIK3CA 171834
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ICD+
SNOMEDCT: 717765001
ORPHA: 168984
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3:
# 615108. COWDEN SYNDROME 5; CWS5
Cytogenetic location: 3q26.32
Matching terms: 615108
► 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
3q26.32 Cowden syndrome 5 615108 3 PIK3CA 171834
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ICD+
ORPHA: 201
DO: 0081001
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4:
# 155500. MACRODACTYLY
Cytogenetic location: 3q26.32
Matching terms: 155500
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
3q26.32 Macrodactyly, somatic 155500 3 PIK3CA 171834
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Links
Testing
GTR
Clinical Resources
Clinical Trials
Gene Reviews
GTR
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ICD+
SNOMEDCT: 48449000
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5:
# 162900. NEVUS, EPIDERMAL
NEVUS SEBACEOUS, INCLUDED
Cytogenetic locations: 1p13.2, 3q26.32, 4p16.3, 11p15.5
Matching terms: 162900
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
1p13.2 Epidermal nevus, somatic 162900 3 NRAS 164790
3q26.32 Nevus, epidermal, somatic 162900 3 PIK3CA 171834
4p16.3 Nevus, epidermal, somatic 162900 3 FGFR3 134934
11p15.5 Nevus sebaceous or woolly hair nevus, somatic 162900 3 HRAS 190020
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ICD+
SNOMEDCT: 239107007, 25201003
ORPHA: 79414
DO: 0111162
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6:
# 602501. MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME; MCAP
Cytogenetic location: 3q26.32
Matching terms: 602501
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
3q26.32 Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 602501 3 PIK3CA 171834
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ICD+
SNOMEDCT: 700063005
ORPHA: 60040
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7:
# 612918. CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI
Cytogenetic location: 3q26.32
Matching terms: 612918
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
3q26.32 CLOVE syndrome, somatic 612918 3 PIK3CA 171834
▲ Close
ICD+
SNOMEDCT: 719475006
ORPHA: 140944
DO: 0080351
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Search: 155500 162900 171834 602501 612918 613089 615108 (Search in: MIM number)
Results: 7 entries.

1:
* 171834. PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, ALPHA; PIK3CA
Cytogenetic location: 3q26.32, Genomic coordinates (GRCh38): 3:179,148,126-179,240,093
Matching terms: 171834

2:
# 613089. CAPILLARY MALFORMATION OF THE LOWER LIP, LYMPHATIC MALFORMATION OF FACE AND NECK, ASYMMETRY OF FACE AND LIMBS, AND PARTIAL/GENERALIZED OVERGROWTH
Cytogenetic location: 3q26.32
Matching terms: 613089

3:
# 615108. COWDEN SYNDROME 5; CWS5
Cytogenetic location: 3q26.32
Matching terms: 615108

4:
# 155500. MACRODACTYLY
Cytogenetic location: 3q26.32
Matching terms: 155500

5:
# 162900. NEVUS, EPIDERMAL
NEVUS SEBACEOUS, INCLUDED
Cytogenetic locations: 1p13.2, 3q26.32, 4p16.3, 11p15.5
Matching terms: 162900

6:
# 602501. MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME; MCAP
Cytogenetic location: 3q26.32
Matching terms: 602501

7:
# 612918. CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI
Cytogenetic location: 3q26.32
Matching terms: 612918


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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