Entry Search - 233400 600783 601119 601860 604544 606075 607435 614129 614926 615300 616138 617565

Search: '233400 600783 601119 601860 604544 606075 607435 614129 614926 615300 616138 617565 (Search in: MIM number)'

Results: 12 entries.

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# 233400. PERRAULT SYNDROME 1; PRLTS1
Cytogenetic location: 5q23.1
Matching terms: 233400
► 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
5q23.1	Perrault syndrome 1	233400	AR	3	HSD17B4	601860

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Perrault syndrome - PS233400 - 7 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1q22	Perrault syndrome 7	AR	3	621101	DAP3	602074
3p21.31	Perrault syndrome 4	AR	3	615300	LARS2	604544
5q23.1	Perrault syndrome 1	AR	3	233400	HSD17B4	601860
5q31.3	Perrault syndrome 2	AR	3	614926	HARS2	600783
10q24.31	Perrault syndrome 5	AR	3	616138	TWNK	606075
17q11.2	Perrault syndrome 6	AR	3	617565	ERAL1	607435
19p13.3	Perrault syndrome 3	AR	3	614129	CLPP	601119

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews GTR OrphaNet POSSUM	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology

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ICD+
SNOMEDCT: 93466004 ORPHA: 2855 DO: 0050857

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* 606075. TWINKLE mtDNA HELICASE; TWNK
TWINKY, INCLUDED
Cytogenetic location: 10q24.31, Genomic coordinates (GRCh38): 10:100,987,543-100,994,403
Matching terms: 606075
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
10q24.31	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	271245	AR	3
	Perrault syndrome 5	616138	AR	3
	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	609286	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 MedlinePlus Genetics GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 724227000

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* 601860. 17-BETA-HYDROXYSTEROID DEHYDROGENASE IV; HSD17B4
Cytogenetic location: 5q23.1, Genomic coordinates (GRCh38): 5:119,452,497-119,542,332
Matching terms: 601860
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
5q23.1	D-bifunctional protein deficiency	261515	AR	3
5q23.1	Perrault syndrome 1	233400	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 Catalog GWAS Central HGMD Locus Specific DBs NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene WBGene00000991 WBGene00017123 ZFin	Cell Lines Coriell	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 238068007

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# 614129. PERRAULT SYNDROME 3; PRLTS3
Cytogenetic location: 19p13.3
Matching terms: 614129
► 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	Perrault syndrome 3	614129	AR	3	CLPP	601119

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Perrault syndrome - PS233400 - 7 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1q22	Perrault syndrome 7	AR	3	621101	DAP3	602074
3p21.31	Perrault syndrome 4	AR	3	615300	LARS2	604544
5q23.1	Perrault syndrome 1	AR	3	233400	HSD17B4	601860
5q31.3	Perrault syndrome 2	AR	3	614926	HARS2	600783
10q24.31	Perrault syndrome 5	AR	3	616138	TWNK	606075
17q11.2	Perrault syndrome 6	AR	3	617565	ERAL1	607435
19p13.3	Perrault syndrome 3	AR	3	614129	CLPP	601119

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews GTR OrphaNet	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology

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ICD+
ORPHA: 2855 DO: 0050857

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# 616138. PERRAULT SYNDROME 5; PRLTS5
Cytogenetic location: 10q24.31
Matching terms: 616138
► 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
10q24.31	Perrault syndrome 5	616138	AR	3	TWNK	606075

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Perrault syndrome - PS233400 - 7 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1q22	Perrault syndrome 7	AR	3	621101	DAP3	602074
3p21.31	Perrault syndrome 4	AR	3	615300	LARS2	604544
5q23.1	Perrault syndrome 1	AR	3	233400	HSD17B4	601860
5q31.3	Perrault syndrome 2	AR	3	614926	HARS2	600783
10q24.31	Perrault syndrome 5	AR	3	616138	TWNK	606075
17q11.2	Perrault syndrome 6	AR	3	617565	ERAL1	607435
19p13.3	Perrault syndrome 3	AR	3	614129	CLPP	601119

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews MedlinePlus Genetics GTR OrphaNet

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ICD+
ORPHA: 2855

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# 614926. PERRAULT SYNDROME 2; PRLTS2
Cytogenetic location: 5q31.3
Matching terms: 614926
► 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
5q31.3	Perrault syndrome 2	614926	AR	3	HARS2	600783

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Perrault syndrome - PS233400 - 7 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1q22	Perrault syndrome 7	AR	3	621101	DAP3	602074
3p21.31	Perrault syndrome 4	AR	3	615300	LARS2	604544
5q23.1	Perrault syndrome 1	AR	3	233400	HSD17B4	601860
5q31.3	Perrault syndrome 2	AR	3	614926	HARS2	600783
10q24.31	Perrault syndrome 5	AR	3	616138	TWNK	606075
17q11.2	Perrault syndrome 6	AR	3	617565	ERAL1	607435
19p13.3	Perrault syndrome 3	AR	3	614129	CLPP	601119

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews GTR OrphaNet	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology

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ICD+
ORPHA: 2855 DO: 0050857

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# 615300. PERRAULT SYNDROME 4; PRLTS4
Cytogenetic location: 3p21.31
Matching terms: 615300
► 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
3p21.31	Perrault syndrome 4	615300	AR	3	LARS2	604544

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Perrault syndrome - PS233400 - 7 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1q22	Perrault syndrome 7	AR	3	621101	DAP3	602074
3p21.31	Perrault syndrome 4	AR	3	615300	LARS2	604544
5q23.1	Perrault syndrome 1	AR	3	233400	HSD17B4	601860
5q31.3	Perrault syndrome 2	AR	3	614926	HARS2	600783
10q24.31	Perrault syndrome 5	AR	3	616138	TWNK	606075
17q11.2	Perrault syndrome 6	AR	3	617565	ERAL1	607435
19p13.3	Perrault syndrome 3	AR	3	614129	CLPP	601119

▲ Close

Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews GTR OrphaNet	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology

▲ Close

ICD+
ORPHA: 2855 DO: 0050857

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# 617565. PERRAULT SYNDROME 6; PRLTS6
Cytogenetic location: 17q11.2
Matching terms: 617565
► 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
17q11.2	Perrault syndrome 6	617565	AR	3	ERAL1	607435

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Perrault syndrome - PS233400 - 7 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1q22	Perrault syndrome 7	AR	3	621101	DAP3	602074
3p21.31	Perrault syndrome 4	AR	3	615300	LARS2	604544
5q23.1	Perrault syndrome 1	AR	3	233400	HSD17B4	601860
5q31.3	Perrault syndrome 2	AR	3	614926	HARS2	600783
10q24.31	Perrault syndrome 5	AR	3	616138	TWNK	606075
17q11.2	Perrault syndrome 6	AR	3	617565	ERAL1	607435
19p13.3	Perrault syndrome 3	AR	3	614129	CLPP	601119

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews GTR OrphaNet	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology

▲ Close

ICD+
ORPHA: 2855 DO: 0080256

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* 600783. HISTIDYL-tRNA SYNTHETASE 2; HARS2
Cytogenetic location: 5q31.3, Genomic coordinates (GRCh38): 5:140,691,455-140,699,305
Matching terms: 600783
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
5q31.3	Perrault syndrome 2	614926	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 Validity MedlinePlus Genetics GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

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10:

* 601119. CASEINOLYTIC MITOCHONDRIAL MATRIX PEPTIDASE PROTEOLYTIC SUBUNIT; CLPP
Cytogenetic location: 19p13.3, Genomic coordinates (GRCh38): 19:6,361,531-6,370,242
Matching terms: 601119
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
19p13.3	Perrault syndrome 3	614129	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 NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways Reactome

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Search: 233400 600783 601119 601860 604544 606075 607435 614129 614926 615300 616138 617565 (Search in: MIM number)

Results: 12 entries.

# 233400. PERRAULT SYNDROME 1; PRLTS1
Cytogenetic location: 5q23.1
Matching terms: 233400

* 606075. TWINKLE mtDNA HELICASE; TWNK
TWINKY, INCLUDED
Cytogenetic location: 10q24.31, Genomic coordinates (GRCh38): 10:100,987,543-100,994,403
Matching terms: 606075

* 601860. 17-BETA-HYDROXYSTEROID DEHYDROGENASE IV; HSD17B4
Cytogenetic location: 5q23.1, Genomic coordinates (GRCh38): 5:119,452,497-119,542,332
Matching terms: 601860

# 614129. PERRAULT SYNDROME 3; PRLTS3
Cytogenetic location: 19p13.3
Matching terms: 614129

# 616138. PERRAULT SYNDROME 5; PRLTS5
Cytogenetic location: 10q24.31
Matching terms: 616138

# 614926. PERRAULT SYNDROME 2; PRLTS2
Cytogenetic location: 5q31.3
Matching terms: 614926

# 615300. PERRAULT SYNDROME 4; PRLTS4
Cytogenetic location: 3p21.31
Matching terms: 615300

# 617565. PERRAULT SYNDROME 6; PRLTS6
Cytogenetic location: 17q11.2
Matching terms: 617565

* 600783. HISTIDYL-tRNA SYNTHETASE 2; HARS2
Cytogenetic location: 5q31.3, Genomic coordinates (GRCh38): 5:140,691,455-140,699,305
Matching terms: 600783

10:

* 601119. CASEINOLYTIC MITOCHONDRIAL MATRIX PEPTIDASE PROTEOLYTIC SUBUNIT; CLPP
Cytogenetic location: 19p13.3, Genomic coordinates (GRCh38): 19:6,361,531-6,370,242
Matching terms: 601119

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