Entry Search - 203300 603401 604310 604982 606118 606682 607145 607246 607289 607521 607522 608233 609762 614072 614073 614074 614075 614076 614077 614171 617050 619172

Search: '203300 603401 604310 604982 606118 606682 607145 607246 607289 607521 607522 608233 609762 614072 614073 614074 614075 614076 614077 614171 617050 619172 (Search in: MIM number)'

Results: 22 entries.

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# 203300. HERMANSKY-PUDLAK SYNDROME 1; HPS1
Cytogenetic location: 10q24.2
Matching terms: 203300
► 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
10q24.2	Hermansky-Pudlak syndrome 1	203300	AR	3	HPS1	604982

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Hermansky-Pudlak syndrome - PS203300 - 11 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
3q24	Hermansky-Pudlak syndrome 3	AR	3	614072	HPS3	606118
5q14.1	Hermansky-Pudlak syndrome 2	AR	3	608233	AP3B1	603401
6p24.3	Hermansky-Pudlak syndrome 11	AR	3	619172	BLOC1S5	607289
6p22.3	Hermansky-Pudlak syndrome 7	AR	3	614076	DTNBP1	607145
10q24.2	Hermansky-Pudlak syndrome 1	AR	3	203300	HPS1	604982
10q24.32	Hermansky-Pudlak syndrome 6	AR	3	614075	HPS6	607522
11p15.1	Hermansky-Pudlak syndrome 5	AR	3	614074	HPS5	607521
15q21.1	Hermansky-Pudlak syndrome 9	AR	3	614171	BLOC1S6	604310
19p13.3	?Hermansky-Pudlak syndrome 10	AR	3	617050	AP3D1	607246
19q13.32	Hermansky-Pudlak syndrome 8	AR	3	614077	BLOC1S3	609762
22q12.1	Hermansky-Pudlak syndrome 4	AR	3	614073	HPS4	606682

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Links
Testing GTR EuroGentest Hermansky-Pudlak syndrome … Hermansky-Pudlak syndrome	Clinical Resources Clinical Trials EuroGentest Hermansky-Pudlak syndrome … Hermansky-Pudlak syndrome Gene Reviews Genetic Alliance MedlinePlus Genetics GTR OrphaNet Hermansky-Pudlak syndrome … Hermansky-Pudlak syndrome POSSUM	Animal Models Alliance Genome MGI Mouse Phenotype	Cell Lines Coriell

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ICD+
ORPHA: 231500, 79430 DO: 0060539

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* 604982. HPS1 BIOGENESIS OF LYSOSOMAL ORGANELLES COMPLEX 3, SUBUNIT 1; HPS1
Cytogenetic location: 10q24.2, Genomic coordinates (GRCh38): 10:98,413,948-98,446,935
Matching terms: 604982
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
10q24.2	Hermansky-Pudlak syndrome 1	203300	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 Albinism Database Mutations of the ep-Gene Mutations of the HPS Gene 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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* 606118. HPS3 BIOGENESIS OF LYSOSOMAL ORGANELLES COMPLEX 2, SUBUNIT 1; HPS3
Cytogenetic location: 3q24, Genomic coordinates (GRCh38): 3:149,129,638-149,173,732
Matching terms: 606118
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
3q24	Hermansky-Pudlak syndrome 3	614072	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 gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs Albinism Database Hermansky-Pudlak syndrome … Mutations of the HPS3 Gene NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB ZFin	Cell Lines Coriell	Cellular Pathways Reactome

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# 608233. HERMANSKY-PUDLAK SYNDROME 2; HPS2
Cytogenetic location: 5q14.1
Matching terms: 608233
► 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
5q14.1	Hermansky-Pudlak syndrome 2	608233	AR	3	AP3B1	603401

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Hermansky-Pudlak syndrome - PS203300 - 11 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
3q24	Hermansky-Pudlak syndrome 3	AR	3	614072	HPS3	606118
5q14.1	Hermansky-Pudlak syndrome 2	AR	3	608233	AP3B1	603401
6p24.3	Hermansky-Pudlak syndrome 11	AR	3	619172	BLOC1S5	607289
6p22.3	Hermansky-Pudlak syndrome 7	AR	3	614076	DTNBP1	607145
10q24.2	Hermansky-Pudlak syndrome 1	AR	3	203300	HPS1	604982
10q24.32	Hermansky-Pudlak syndrome 6	AR	3	614075	HPS6	607522
11p15.1	Hermansky-Pudlak syndrome 5	AR	3	614074	HPS5	607521
15q21.1	Hermansky-Pudlak syndrome 9	AR	3	614171	BLOC1S6	604310
19p13.3	?Hermansky-Pudlak syndrome 10	AR	3	617050	AP3D1	607246
19q13.32	Hermansky-Pudlak syndrome 8	AR	3	614077	BLOC1S3	609762
22q12.1	Hermansky-Pudlak syndrome 4	AR	3	614073	HPS4	606682

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Links
Testing GTR EuroGentest Hermansky-Pudlak syndrome … Hermansky-Pudlak syndrome	Clinical Resources Clinical Trials EuroGentest Hermansky-Pudlak syndrome … Hermansky-Pudlak syndrome Gene Reviews Genetic Alliance GTR OrphaNet Hermansky-Pudlak syndrome … Hermansky-Pudlak syndrome POSSUM	Animal Models Alliance Genome MGI Mouse Phenotype OMIA Wormbase Disease Ontology	Cell Lines Coriell

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ICD+
ORPHA: 183678, 79430 DO: 0060540

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* 609762. BIOGENESIS OF LYSOSOME-RELATED ORGANELLES COMPLEX 1, SUBUNIT 3; BLOC1S3
Cytogenetic location: 19q13.32, Genomic coordinates (GRCh38): 19:45,178,784-45,217,083
Matching terms: 609762
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
19q13.32	Hermansky-Pudlak syndrome 8	614077	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 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 ZFin	Cellular Pathways Reactome

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# 614072. HERMANSKY-PUDLAK SYNDROME 3; HPS3
Cytogenetic location: 3q24
Matching terms: 614072
► 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
3q24	Hermansky-Pudlak syndrome 3	614072	AR	3	HPS3	606118

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Hermansky-Pudlak syndrome - PS203300 - 11 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
3q24	Hermansky-Pudlak syndrome 3	AR	3	614072	HPS3	606118
5q14.1	Hermansky-Pudlak syndrome 2	AR	3	608233	AP3B1	603401
6p24.3	Hermansky-Pudlak syndrome 11	AR	3	619172	BLOC1S5	607289
6p22.3	Hermansky-Pudlak syndrome 7	AR	3	614076	DTNBP1	607145
10q24.2	Hermansky-Pudlak syndrome 1	AR	3	203300	HPS1	604982
10q24.32	Hermansky-Pudlak syndrome 6	AR	3	614075	HPS6	607522
11p15.1	Hermansky-Pudlak syndrome 5	AR	3	614074	HPS5	607521
15q21.1	Hermansky-Pudlak syndrome 9	AR	3	614171	BLOC1S6	604310
19p13.3	?Hermansky-Pudlak syndrome 10	AR	3	617050	AP3D1	607246
19q13.32	Hermansky-Pudlak syndrome 8	AR	3	614077	BLOC1S3	609762
22q12.1	Hermansky-Pudlak syndrome 4	AR	3	614073	HPS4	606682

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Links
Testing GTR EuroGentest Hermansky-Pudlak syndrome … Hermansky-Pudlak syndrome	Clinical Resources Clinical Trials EuroGentest Hermansky-Pudlak syndrome … Hermansky-Pudlak syndrome Gene Reviews Genetic Alliance GTR OrphaNet Hermansky-Pudlak syndrome … Hermansky-Pudlak syndrome	Animal Models Alliance Genome MGI Mouse Phenotype OMIA

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ICD+
ORPHA: 231512, 79430 DO: 0060541

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# 614073. HERMANSKY-PUDLAK SYNDROME 4; HPS4
Cytogenetic location: 22q12.1
Matching terms: 614073
► 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
22q12.1	Hermansky-Pudlak syndrome 4	614073	AR	3	HPS4	606682

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Hermansky-Pudlak syndrome - PS203300 - 11 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
3q24	Hermansky-Pudlak syndrome 3	AR	3	614072	HPS3	606118
5q14.1	Hermansky-Pudlak syndrome 2	AR	3	608233	AP3B1	603401
6p24.3	Hermansky-Pudlak syndrome 11	AR	3	619172	BLOC1S5	607289
6p22.3	Hermansky-Pudlak syndrome 7	AR	3	614076	DTNBP1	607145
10q24.2	Hermansky-Pudlak syndrome 1	AR	3	203300	HPS1	604982
10q24.32	Hermansky-Pudlak syndrome 6	AR	3	614075	HPS6	607522
11p15.1	Hermansky-Pudlak syndrome 5	AR	3	614074	HPS5	607521
15q21.1	Hermansky-Pudlak syndrome 9	AR	3	614171	BLOC1S6	604310
19p13.3	?Hermansky-Pudlak syndrome 10	AR	3	617050	AP3D1	607246
19q13.32	Hermansky-Pudlak syndrome 8	AR	3	614077	BLOC1S3	609762
22q12.1	Hermansky-Pudlak syndrome 4	AR	3	614073	HPS4	606682

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Links
Testing GTR EuroGentest Hermansky-Pudlak syndrome … Hermansky-Pudlak syndrome	Clinical Resources Clinical Trials EuroGentest Hermansky-Pudlak syndrome … Hermansky-Pudlak syndrome Gene Reviews Genetic Alliance GTR OrphaNet Hermansky-Pudlak syndrome … Hermansky-Pudlak syndrome	Animal Models Alliance Genome MGI Mouse Phenotype

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ICD+
ORPHA: 231500, 79430 DO: 0060542

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# 614074. HERMANSKY-PUDLAK SYNDROME 5; HPS5
Cytogenetic location: 11p15.1
Matching terms: 614074
► 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
11p15.1	Hermansky-Pudlak syndrome 5	614074	AR	3	HPS5	607521

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Hermansky-Pudlak syndrome - PS203300 - 11 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
3q24	Hermansky-Pudlak syndrome 3	AR	3	614072	HPS3	606118
5q14.1	Hermansky-Pudlak syndrome 2	AR	3	608233	AP3B1	603401
6p24.3	Hermansky-Pudlak syndrome 11	AR	3	619172	BLOC1S5	607289
6p22.3	Hermansky-Pudlak syndrome 7	AR	3	614076	DTNBP1	607145
10q24.2	Hermansky-Pudlak syndrome 1	AR	3	203300	HPS1	604982
10q24.32	Hermansky-Pudlak syndrome 6	AR	3	614075	HPS6	607522
11p15.1	Hermansky-Pudlak syndrome 5	AR	3	614074	HPS5	607521
15q21.1	Hermansky-Pudlak syndrome 9	AR	3	614171	BLOC1S6	604310
19p13.3	?Hermansky-Pudlak syndrome 10	AR	3	617050	AP3D1	607246
19q13.32	Hermansky-Pudlak syndrome 8	AR	3	614077	BLOC1S3	609762
22q12.1	Hermansky-Pudlak syndrome 4	AR	3	614073	HPS4	606682

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Links
Testing GTR EuroGentest Hermansky-Pudlak syndrome … Hermansky-Pudlak syndrome	Clinical Resources Clinical Trials EuroGentest Hermansky-Pudlak syndrome … Hermansky-Pudlak syndrome Gene Reviews Genetic Alliance GTR OrphaNet Hermansky-Pudlak syndrome … Hermansky-Pudlak syndrome	Animal Models Alliance Genome MGI Mouse Phenotype OMIA Wormbase Disease Ontology

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ICD+
ORPHA: 231512, 79430 DO: 0060543

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# 614075. HERMANSKY-PUDLAK SYNDROME 6; HPS6
Cytogenetic location: 10q24.32
Matching terms: 614075
► 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
10q24.32	Hermansky-Pudlak syndrome 6	614075	AR	3	HPS6	607522

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Hermansky-Pudlak syndrome - PS203300 - 11 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
3q24	Hermansky-Pudlak syndrome 3	AR	3	614072	HPS3	606118
5q14.1	Hermansky-Pudlak syndrome 2	AR	3	608233	AP3B1	603401
6p24.3	Hermansky-Pudlak syndrome 11	AR	3	619172	BLOC1S5	607289
6p22.3	Hermansky-Pudlak syndrome 7	AR	3	614076	DTNBP1	607145
10q24.2	Hermansky-Pudlak syndrome 1	AR	3	203300	HPS1	604982
10q24.32	Hermansky-Pudlak syndrome 6	AR	3	614075	HPS6	607522
11p15.1	Hermansky-Pudlak syndrome 5	AR	3	614074	HPS5	607521
15q21.1	Hermansky-Pudlak syndrome 9	AR	3	614171	BLOC1S6	604310
19p13.3	?Hermansky-Pudlak syndrome 10	AR	3	617050	AP3D1	607246
19q13.32	Hermansky-Pudlak syndrome 8	AR	3	614077	BLOC1S3	609762
22q12.1	Hermansky-Pudlak syndrome 4	AR	3	614073	HPS4	606682

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Links
Testing GTR EuroGentest Hermansky-Pudlak syndrome … Hermansky-Pudlak syndrome	Clinical Resources Clinical Trials EuroGentest Hermansky-Pudlak syndrome … Hermansky-Pudlak syndrome Gene Reviews Genetic Alliance GTR OrphaNet Hermansky-Pudlak syndrome … Hermansky-Pudlak syndrome	Animal Models Alliance Genome MGI Mouse Phenotype

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ICD+
ORPHA: 231512, 79430 DO: 0060544

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10:

# 614076. HERMANSKY-PUDLAK SYNDROME 7; HPS7
Cytogenetic location: 6p22.3
Matching terms: 614076
► 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
6p22.3	Hermansky-Pudlak syndrome 7	614076	AR	3	DTNBP1	607145

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Hermansky-Pudlak syndrome - PS203300 - 11 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
3q24	Hermansky-Pudlak syndrome 3	AR	3	614072	HPS3	606118
5q14.1	Hermansky-Pudlak syndrome 2	AR	3	608233	AP3B1	603401
6p24.3	Hermansky-Pudlak syndrome 11	AR	3	619172	BLOC1S5	607289
6p22.3	Hermansky-Pudlak syndrome 7	AR	3	614076	DTNBP1	607145
10q24.2	Hermansky-Pudlak syndrome 1	AR	3	203300	HPS1	604982
10q24.32	Hermansky-Pudlak syndrome 6	AR	3	614075	HPS6	607522
11p15.1	Hermansky-Pudlak syndrome 5	AR	3	614074	HPS5	607521
15q21.1	Hermansky-Pudlak syndrome 9	AR	3	614171	BLOC1S6	604310
19p13.3	?Hermansky-Pudlak syndrome 10	AR	3	617050	AP3D1	607246
19q13.32	Hermansky-Pudlak syndrome 8	AR	3	614077	BLOC1S3	609762
22q12.1	Hermansky-Pudlak syndrome 4	AR	3	614073	HPS4	606682

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Links
Testing GTR EuroGentest Hermansky-Pudlak syndrome … Hermansky-Pudlak syndrome	Clinical Resources Clinical Trials EuroGentest Hermansky-Pudlak syndrome … Hermansky-Pudlak syndrome Gene Reviews Genetic Alliance GTR OrphaNet Hermansky-Pudlak syndrome … Hermansky-Pudlak syndrome	Animal Models Alliance Genome MGI Mouse Phenotype

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ICD+
ORPHA: 231531, 79430 DO: 0060545

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Search: 203300 603401 604310 604982 606118 606682 607145 607246 607289 607521 607522 608233 609762 614072 614073 614074 614075 614076 614077 614171 617050 619172 (Search in: MIM number)

Results: 22 entries.

# 203300. HERMANSKY-PUDLAK SYNDROME 1; HPS1
Cytogenetic location: 10q24.2
Matching terms: 203300

* 604982. HPS1 BIOGENESIS OF LYSOSOMAL ORGANELLES COMPLEX 3, SUBUNIT 1; HPS1
Cytogenetic location: 10q24.2, Genomic coordinates (GRCh38): 10:98,413,948-98,446,935
Matching terms: 604982

* 606118. HPS3 BIOGENESIS OF LYSOSOMAL ORGANELLES COMPLEX 2, SUBUNIT 1; HPS3
Cytogenetic location: 3q24, Genomic coordinates (GRCh38): 3:149,129,638-149,173,732
Matching terms: 606118

# 608233. HERMANSKY-PUDLAK SYNDROME 2; HPS2
Cytogenetic location: 5q14.1
Matching terms: 608233

* 609762. BIOGENESIS OF LYSOSOME-RELATED ORGANELLES COMPLEX 1, SUBUNIT 3; BLOC1S3
Cytogenetic location: 19q13.32, Genomic coordinates (GRCh38): 19:45,178,784-45,217,083
Matching terms: 609762

# 614072. HERMANSKY-PUDLAK SYNDROME 3; HPS3
Cytogenetic location: 3q24
Matching terms: 614072

# 614073. HERMANSKY-PUDLAK SYNDROME 4; HPS4
Cytogenetic location: 22q12.1
Matching terms: 614073

# 614074. HERMANSKY-PUDLAK SYNDROME 5; HPS5
Cytogenetic location: 11p15.1
Matching terms: 614074

# 614075. HERMANSKY-PUDLAK SYNDROME 6; HPS6
Cytogenetic location: 10q24.32
Matching terms: 614075

10:

# 614076. HERMANSKY-PUDLAK SYNDROME 7; HPS7
Cytogenetic location: 6p22.3
Matching terms: 614076

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