Entry Search - 600308 604004 605908 605948 611642 613925 613926 - OMIM
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Search: '600308 604004 605908 605948 611642 613925 613926 (Search in: MIM number)'
Results: 7 entries.

1:
# 604004. MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1; MLC1
Cytogenetic location: 22q13.33
Matching terms: 604004
► 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
22q13.33 Megalencephalic leukoencephalopathy with subcortical cysts 1 604004 AR 3 MLC1 605908
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ICD+
SNOMEDCT: 703536004
ICD10CM: G93.42
ORPHA: 2478
DO: 0080316
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2:
* 605908. MODULATOR OF VRAC CURRENT 1; MLC1
Cytogenetic location: 22q13.33, Genomic coordinates (GRCh38): 22:50,059,391-50,085,875
Matching terms: 605908
► Gene-Phenotype Relationships  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
22q13.33 Megalencephalic leukoencephalopathy with subcortical cysts 1 604004 AR 3
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3:
* 605948. G PROTEIN-COUPLED RECEPTOR, FAMILY C, GROUP 5, MEMBER B; GPRC5B
Cytogenetic location: 16p12.3, Genomic coordinates (GRCh38): 16:19,856,691-19,885,634
Matching terms: 605948
► Gene-Phenotype Relationships  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
16p12.3 Megalencephalic leukoencephalopathy with subcortical cysts 3 620447 AD 3
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4:
# 613925. MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A; MLC2A
Cytogenetic location: 11q24.2
Matching terms: 613925
► 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
11q24.2 Megalencephalic leukoencephalopathy with subcortical cysts 2A 613925 AR 3 HEPACAM 611642
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ICD+
ORPHA: 2478
DO: 0080318
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5:
# 613926. MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT; MLC2B
Cytogenetic location: 11q24.2
Matching terms: 613926
► 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
11q24.2 Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without impaired intellectual development 613926 AD 3 HEPACAM 611642
▲ Close
ICD+
ORPHA: 210548, 2478
DO: 0080317
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6:
* 611642. HEPATOCYTE CELL ADHESION MOLECULE; HEPACAM
Cytogenetic location: 11q24.2, Genomic coordinates (GRCh38): 11:124,919,205-124,936,047
Matching terms: 611642
► Gene-Phenotype Relationships  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
11q24.2 Megalencephalic leukoencephalopathy with subcortical cysts 2A 613925 AR 3
Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without impaired intellectual development 613926 AD 3
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7:
* 600308. AQUAPORIN 4; AQP4
Cytogenetic location: 18q11.2, Genomic coordinates (GRCh38): 18:26,852,038-26,865,803
Matching terms: 600308
► Gene-Phenotype Relationships  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
18q11.2 ?Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting 620448 AR 3
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Search: 600308 604004 605908 605948 611642 613925 613926 (Search in: MIM number)
Results: 7 entries.

1:
# 604004. MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1; MLC1
Cytogenetic location: 22q13.33
Matching terms: 604004

2:
* 605908. MODULATOR OF VRAC CURRENT 1; MLC1
Cytogenetic location: 22q13.33, Genomic coordinates (GRCh38): 22:50,059,391-50,085,875
Matching terms: 605908

3:
* 605948. G PROTEIN-COUPLED RECEPTOR, FAMILY C, GROUP 5, MEMBER B; GPRC5B
Cytogenetic location: 16p12.3, Genomic coordinates (GRCh38): 16:19,856,691-19,885,634
Matching terms: 605948

4:
# 613925. MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A; MLC2A
Cytogenetic location: 11q24.2
Matching terms: 613925

5:
# 613926. MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT; MLC2B
Cytogenetic location: 11q24.2
Matching terms: 613926

6:
* 611642. HEPATOCYTE CELL ADHESION MOLECULE; HEPACAM
Cytogenetic location: 11q24.2, Genomic coordinates (GRCh38): 11:124,919,205-124,936,047
Matching terms: 611642

7:
* 600308. AQUAPORIN 4; AQP4
Cytogenetic location: 18q11.2, Genomic coordinates (GRCh38): 18:26,852,038-26,865,803
Matching terms: 600308


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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