Entry Search - 300036 300352 601240 602360 612718 612736

Search: '300036 300352 601240 602360 612718 612736 (Search in: MIM number)'

Results: 6 entries.

* 300036. SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, CREATINE), MEMBER 8; SLC6A8
Cytogenetic location: Xq28, Genomic coordinates (GRCh38): X:153,687,926-153,696,593
Matching terms: 300036
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
Xq28	Cerebral creatine deficiency syndrome 1	300352	XLR	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Dosage ClinGen Validity MedlinePlus Genetics GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB ZFin	Cell Lines Coriell	Cellular Pathways Reactome

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ICD+
SNOMEDCT: 698290008

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# 300352. CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1
Cytogenetic location: Xq28
Matching terms: 300352
► 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
Xq28	Cerebral creatine deficiency syndrome 1	300352	XLR	3	SLC6A8	300036

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Cerebral creatine deficiency syndrome - PS300352 - 3 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
15q21.1	Cerebral creatine deficiency syndrome 3	AR	3	612718	GATM	602360
19p13.3	Cerebral creatine deficiency syndrome 2	AR	3	612736	GAMT	601240
Xq28	Cerebral creatine deficiency syndrome 1	XLR	3	300352	SLC6A8	300036

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance MedlinePlus Genetics GTR OrphaNet POSSUM	Animal Models Alliance Genome MGI Mouse Phenotype

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ICD+
SNOMEDCT: 698290008 ORPHA: 52503 DO: 0050800

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# 612718. CEREBRAL CREATINE DEFICIENCY SYNDROME 3; CCDS3
Cytogenetic location: 15q21.1
Matching terms: 612718
► 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
15q21.1	Cerebral creatine deficiency syndrome 3	612718	AR	3	GATM	602360

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Cerebral creatine deficiency syndrome - PS300352 - 3 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
15q21.1	Cerebral creatine deficiency syndrome 3	AR	3	612718	GATM	602360
19p13.3	Cerebral creatine deficiency syndrome 2	AR	3	612736	GAMT	601240
Xq28	Cerebral creatine deficiency syndrome 1	XLR	3	300352	SLC6A8	300036

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance MedlinePlus Genetics GTR OrphaNet	Animal Models Alliance Genome MGI Mouse Phenotype

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ICD+
SNOMEDCT: 702440000 ORPHA: 35704 DO: 0050712

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# 612736. CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2
Cytogenetic location: 19p13.3
Matching terms: 612736
► 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
19p13.3	Cerebral creatine deficiency syndrome 2	612736	AR	3	GAMT	601240

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Cerebral creatine deficiency syndrome - PS300352 - 3 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
15q21.1	Cerebral creatine deficiency syndrome 3	AR	3	612718	GATM	602360
19p13.3	Cerebral creatine deficiency syndrome 2	AR	3	612736	GAMT	601240
Xq28	Cerebral creatine deficiency syndrome 1	XLR	3	300352	SLC6A8	300036

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews MedlinePlus Genetics GTR OrphaNet POSSUM	Animal Models Alliance Genome MGI Mouse Phenotype

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ICD+
SNOMEDCT: 124239003 ORPHA: 382 DO: 0050799

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* 601240. GUANIDINOACETATE METHYLTRANSFERASE; GAMT
Cytogenetic location: 19p13.3, Genomic coordinates (GRCh38): 19:1,397,026-1,401,542
Matching terms: 601240
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
19p13.3	Cerebral creatine deficiency syndrome 2	612736	AR	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Dosage ClinGen Validity MedlinePlus Genetics GTR	Variation ClinVar DECIPHER gnomAD GWAS Central HGMD Locus Specific DBs NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB ZFin	Cell Lines Coriell	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 124239003

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* 602360. L-ARGININE:GLYCINE AMIDINOTRANSFERASE; GATM
Cytogenetic location: 15q21.1, Genomic coordinates (GRCh38): 15:45,361,124-45,402,227
Matching terms: 602360
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
15q21.1	Cerebral creatine deficiency syndrome 3	612718	AR	3
15q21.1	Fanconi renotubular syndrome 1	134600	AD	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Validity MedlinePlus Genetics GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB ZFin	Cell Lines Coriell	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 702440000

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Search: 300036 300352 601240 602360 612718 612736 (Search in: MIM number)

Results: 6 entries.

* 300036. SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, CREATINE), MEMBER 8; SLC6A8
Cytogenetic location: Xq28, Genomic coordinates (GRCh38): X:153,687,926-153,696,593
Matching terms: 300036

# 300352. CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1
Cytogenetic location: Xq28
Matching terms: 300352

# 612718. CEREBRAL CREATINE DEFICIENCY SYNDROME 3; CCDS3
Cytogenetic location: 15q21.1
Matching terms: 612718

# 612736. CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2
Cytogenetic location: 19p13.3
Matching terms: 612736

* 601240. GUANIDINOACETATE METHYLTRANSFERASE; GAMT
Cytogenetic location: 19p13.3, Genomic coordinates (GRCh38): 19:1,397,026-1,401,542
Matching terms: 601240

* 602360. L-ARGININE:GLYCINE AMIDINOTRANSFERASE; GATM
Cytogenetic location: 15q21.1, Genomic coordinates (GRCh38): 15:45,361,124-45,402,227
Matching terms: 602360

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