Entry Search - 116860 603284 603285 604214 607929 609118 - OMIM
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Search: '116860 603284 603285 604214 607929 609118 (Search in: MIM number)'
Results: 6 entries.

1:
# 603285. CEREBRAL CAVERNOUS MALFORMATIONS 3; CCM3
Cytogenetic location: 3q26.1
Matching terms: 603285
► 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
3q26.1 Cerebral cavernous malformations-3 603285 AD 3 PDCD10 609118
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ICD+
ORPHA: 221061
DO: 0060671
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2:
# 603284. CEREBRAL CAVERNOUS MALFORMATIONS 2; CCM2
Cytogenetic location: 7p13
Matching terms: 603284
► 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
7p13 Cerebral cavernous malformations-2 603284 AD 3 CCM2 607929
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ICD+
ORPHA: 221061
DO: 0060670
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3:
* 609118. PROGRAMMED CELL DEATH 10; PDCD10
Cytogenetic location: 3q26.1, Genomic coordinates (GRCh38): 3:167,683,298-167,734,892
Matching terms: 609118
► Gene-Phenotype Relationships  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
3q26.1 Cerebral cavernous malformations-3 603285 AD 3
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4:
# 116860. CEREBRAL CAVERNOUS MALFORMATIONS; CCM
CEREBRAL CAVERNOUS MALFORMATIONS 1, INCLUDED; CCM1, INCLUDED
Cytogenetic locations: 7q21.2,
Matching terms: 116860
► 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
7q21.2 Cavernous malformations of CNS and retina 116860 AD 3 KRIT1 604214
7q21.2 Cerebral cavernous malformations-1 116860 AD 3 KRIT1 604214
7q21.2 Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations 116860 AD 3 KRIT1 604214
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ICD+
SNOMEDCT: 444869007
ORPHA: 221061
DO: 0080491
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5:
* 607929. CCM2 SCAFFOLD PROTEIN; CCM2
Cytogenetic location: 7p13, Genomic coordinates (GRCh38): 7:44,999,746-45,076,470
Matching terms: 607929
► Gene-Phenotype Relationships  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
7p13 Cerebral cavernous malformations-2 603284 AD 3
▲ Close

6:
* 604214. KRIT1 ANKYRIN REPEAT-CONTAINING PROTEIN 1; KRIT1
Cytogenetic location: 7q21.2, Genomic coordinates (GRCh38): 7:92,198,969-92,246,100
Matching terms: 604214
► Gene-Phenotype Relationships  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
7q21.2 Cavernous malformations of CNS and retina 116860 AD 3
Cerebral cavernous malformations-1 116860 AD 3
Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations 116860 AD 3
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Search: 116860 603284 603285 604214 607929 609118 (Search in: MIM number)
Results: 6 entries.

1:
# 603285. CEREBRAL CAVERNOUS MALFORMATIONS 3; CCM3
Cytogenetic location: 3q26.1
Matching terms: 603285

2:
# 603284. CEREBRAL CAVERNOUS MALFORMATIONS 2; CCM2
Cytogenetic location: 7p13
Matching terms: 603284

3:
* 609118. PROGRAMMED CELL DEATH 10; PDCD10
Cytogenetic location: 3q26.1, Genomic coordinates (GRCh38): 3:167,683,298-167,734,892
Matching terms: 609118

4:
# 116860. CEREBRAL CAVERNOUS MALFORMATIONS; CCM
CEREBRAL CAVERNOUS MALFORMATIONS 1, INCLUDED; CCM1, INCLUDED
Cytogenetic locations: 7q21.2,
Matching terms: 116860

5:
* 607929. CCM2 SCAFFOLD PROTEIN; CCM2
Cytogenetic location: 7p13, Genomic coordinates (GRCh38): 7:44,999,746-45,076,470
Matching terms: 607929

6:
* 604214. KRIT1 ANKYRIN REPEAT-CONTAINING PROTEIN 1; KRIT1
Cytogenetic location: 7q21.2, Genomic coordinates (GRCh38): 7:92,198,969-92,246,100
Matching terms: 604214


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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