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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Albinism (D000417)
Parent Node: Hemorrhagic Disorders (D006474)
Parent Node: Hermanski-Pudlak Syndrome (D022861)
..Starting node ..Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells (C538539)
Child Nodes:
Sister Nodes:
..Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells (C538539)
..Hermansky Pudlak syndrome 2 (C537709)
..Kotzot-Richter syndrome (C537025)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

405

Name:

Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells

Definition:

Alternative IDs:

OMIM:203300

ParentIDs:

MESH:D000417|MESH:D006474|MESH:D022861

TreeNumbers:

C11.270.040.545.400/C538539 |C11.270.040/C538539 |C15.378.100.100.515/C538539 |C15.378.100.685.400/C538539 |C15.378.140.735.400/C538539 |C15.378.463.735.400/C538539 |C15.378.463/C538539 |C16.320.099.515/C538539 |C16.320.290.040.100.400/C538539 |C16.320.290.040/C5

Synonyms:

ALBINISM WITH HEMORRHAGIC DIATHESIS AND PIGMENTED RETICULOENDOTHELIAL CELLS |Delta storage pool disease |HERMANSKY-PUDLAK SYNDROME 1 |HPS1

Slim Mappings:

Blood disease|Eye disease|Genetic disease (inborn)|Metabolic disease|Skin disease

Reference:

MedGen: C538539
MeSH: C538539
OMIM: 203300;

Genes: HPS1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0002027	Abdominal pain
3	HP:0001595	Abnormal hair morphology
4	HP:0001022	Albinism
5	HP:0000978	Bruising susceptibility
6	HP:0001638	Cardiomyopathy
7	HP:0000421	Epistaxis
8	HP:0007603	Freckles in sun-exposed areas
9	HP:0001480	Freckling
10	HP:0000225	Gingival bleeding
11	HP:0002573	Hematochezia
12	HP:0001425	Heterogeneous
13	HP:0002037	Inflammation of the large intestine
14	HP:0000995	Melanocytic nevus
15	HP:0000639	Nystagmus
16	HP:0001107	Ocular albinism
17	HP:0003010	Prolonged bleeding time
18	HP:0002206	Pulmonary fibrosis
19	HP:0000083	Renal insufficiency
20	HP:0002091	Restrictive ventilatory defect
21	HP:0001141	Severely reduced visual acuity

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_032122.4(DTNBP1):c.177G>A (p.Trp59Ter)	84062	DTNBP1	Pathogenic	727502866	RCV000150041; RCV000202442;	N	MedGen:C2931875,OMIM:203300; MedGen:C3279756,OMIM:614076,ORPHA:231531	6	15638020	15638020	NM_032122.4:c.177G>A	NP_115498.2:p.Trp59Ter	NC_000006.11:g.15638020C>T	OMIM Allelic Variant:607145.0002	C2931875 203300 Hermansky-Pudlak syndrome 1; C3279756 614076 Hermansky-Pudlak syndrome 7
NM_000195.4(HPS1):c.2003T>C (p.Leu668Pro)	3257	HPS1	Pathogenic	281865090	RCV000020191;	N	MedGen:C2931875,OMIM:203300	10	100177421	100177421	NM_000195.4:c.2003T>C	NP_000186.2:p.Leu668Pro	NC_000010.10:g.100177421A>G	-	C2931875 203300 Hermansky-Pudlak syndrome 1
NM_000195.4(HPS1):c.1996G>T (p.Glu666Ter)	3257	HPS1	Pathogenic	121908385	RCV000005597;	N	MedGen:C2931875,OMIM:203300	10	100177428	100177428	NM_000195.4:c.1996G>T	NP_000186.2:p.Glu666Ter	NC_000010.10:g.100177428C>A	OMIM Allelic Variant:604982.0003	C2931875 203300 Hermansky-Pudlak syndrome 1
NM_000195.4(HPS1):c.1888G>A (p.Val630Ile)	3257	HPS1	Benign	139061260	RCV000020190;	N	MedGen:C2931875,OMIM:203300	10	100177984	100177984	NM_000195.4:c.1888G>A	NP_000186.2:p.Val630Ile	NC_000010.10:g.100177984C>T	-	C2931875 203300 Hermansky-Pudlak syndrome 1
NM_000195.4(HPS1):c.1808A>G (p.Gln603Arg)	3257	HPS1	Benign	2296436	RCV000020189; RCV000150810;	N	MedGen:C2931875,OMIM:203300; MedGen:CN169374	10	100179851	100179851	NM_000195.4:c.1808A>G	NP_000186.2:p.Gln603Arg	NC_000010.10:g.100179851T>C	-	C2931875 203300 Hermansky-Pudlak syndrome 1; CN169374 not specified
NM_000195.4(HPS1):c.1749G>A (p.Trp583Ter)	3257	HPS1	Pathogenic	281865089	RCV000020188;	N	MedGen:C2931875,OMIM:203300	10	100179910	100179910	NM_000195.4:c.1749G>A	NP_000186.2:p.Trp583Ter	NC_000010.10:g.100179910C>T	-	C2931875 203300 Hermansky-Pudlak syndrome 1
NM_000195.4(HPS1):c.1744-2A>C	3257	HPS1	Pathogenic	281865088	RCV000020187;	N	MedGen:C2931875,OMIM:203300	10	100179917	100179917	NM_000195.4:c.1744-2A>C		NC_000010.10:g.100179917T>G	-	C2931875 203300 Hermansky-Pudlak syndrome 1
NM_000195.4(HPS1):c.1691delA (p.Lys564Argfs)	3257	HPS1	Pathogenic	281865087	RCV000020186;	N	MedGen:C2931875,OMIM:203300	10	100182178	100182178	NM_000195.4:c.1691delA	NP_000186.2:p.Lys564Argfs	NC_000010.10:g.100182178delT	-	C2931875 203300 Hermansky-Pudlak syndrome 1
NM_000195.4(HPS1):c.1472_1487dup16 (p.His497Glnfs)	3257	HPS1	Pathogenic	281865163	RCV000005595;	N	MedGen:C2931875,OMIM:203300	10	100183555	100183570	NM_000195.4:c.1472_1487dup16	NP_000186.2:p.His497Glnfs	NC_000010.10:g.100183555_100183570dup16	OMIM Allelic Variant:604982.0001	C2931875 203300 Hermansky-Pudlak syndrome 1
NM_000195.4(HPS1):c.1472C>G (p.Pro491Arg)	3257	HPS1	Benign	2296434	RCV000020184; RCV000150811;	N	MedGen:C2931875,OMIM:203300; MedGen:CN169374	10	100183570	100183570	NM_000195.4:c.1472C>G	NP_000186.2:p.Pro491Arg	NC_000010.10:g.100183570G>C	-	C2931875 203300 Hermansky-Pudlak syndrome 1; CN169374 not specified
NM_000195.4(HPS1):c.1375delA (p.Ser459Valfs)	3257	HPS1	Pathogenic	281865086	RCV000020183;	N	MedGen:C2931875,OMIM:203300	10	100184092	100184092	NM_000195.4:c.1375delA	NP_000186.2:p.Ser459Valfs	NC_000010.10:g.100184092delT	-	C2931875 203300 Hermansky-Pudlak syndrome 1
NM_000195.4(HPS1):c.1323dupA (p.Gln442Thrfs)	3257	HPS1	Pathogenic	281865085	RCV000020182;	N	MedGen:C2931875,OMIM:203300	10	100185310	100185310	NM_000195.4:c.1323dupA	NP_000186.2:p.Gln442Thrfs	NC_000010.10:g.100185310dupT	-	C2931875 203300 Hermansky-Pudlak syndrome 1
NM_000195.4(HPS1):c.1189delC (p.Gln397Serfs)	3257	HPS1	Pathogenic	281865084	RCV000020181;	N	MedGen:C2931875,OMIM:203300	10	100185444	100185444	NM_000195.4:c.1189delC	NP_000186.2:p.Gln397Serfs	NC_000010.10:g.100185444delG	-	C2931875 203300 Hermansky-Pudlak syndrome 1
NM_000195.4(HPS1):c.974_975insC (p.Met325Ilefs)	3257	HPS1	Pathogenic	281865092	RCV000020203;	N	MedGen:C2931875,OMIM:203300	10	100186984	100186985	NM_000195.4:c.974_975insC	NP_000186.2:p.Met325Ilefs	NC_000010.10:g.100186984_100186985insG	-	C2931875 203300 Hermansky-Pudlak syndrome 1
NM_000195.4(HPS1):c.972dupC (p.Met325Hisfs)	3257	HPS1	Pathogenic	281865083	RCV000005596;	N	MedGen:C2931875,OMIM:203300	10	100186987	100186987	NM_000195.4:c.972dupC	NP_000186.2:p.Met325Hisfs	NC_000010.10:g.100186987dupG	OMIM Allelic Variant:604982.0002	C2931875 203300 Hermansky-Pudlak syndrome 1
NM_000195.4(HPS1):c.972delC (p.Met325Trpfs)	3257	HPS1	Pathogenic	281865082	RCV000005598;	N	MedGen:C2931875,OMIM:203300	10	100186987	100186987	NM_000195.4:c.972delC	NP_000186.2:p.Met325Trpfs	NC_000010.10:g.100186987delG	OMIM Allelic Variant:604982.0004	C2931875 203300 Hermansky-Pudlak syndrome 1
NM_000195.4(HPS1):c.962dupG (p.Thr322Hisfs)	3257	HPS1	Pathogenic	606231156	RCV000005600;	N	MedGen:C2931875,OMIM:203300	10	100186997	100186997	NM_000195.4:c.962dupG	NP_000186.2:p.Thr322Hisfs	NC_000010.10:g.100186997dupC	OMIM Allelic Variant:604982.0006	C2931875 203300 Hermansky-Pudlak syndrome 1
NM_000195.4(HPS1):c.962delG (p.Gly321Alafs)	3257	HPS1	Pathogenic	281865081	RCV000020200;	N	MedGen:C2931875,OMIM:203300	10	100186997	100186997	NM_000195.4:c.962delG	NP_000186.2:p.Gly321Alafs	NC_000010.10:g.100186997delC	-	C2931875 203300 Hermansky-Pudlak syndrome 1
NM_000195.4(HPS1):c.932delG (p.Ser311Thrfs)	3257	HPS1	Pathogenic	281865091	RCV000020199;	N	MedGen:C2931875,OMIM:203300	10	100189335	100189335	NM_000195.4:c.932delG	NP_000186.2:p.Ser311Thrfs	NC_000010.10:g.100189335delC	-	C2931875 203300 Hermansky-Pudlak syndrome 1
NM_000195.4(HPS1):c.847G>T (p.Gly283Trp)	3257	HPS1	Benign	11592273	RCV000020198; RCV000155543;	N	MedGen:C2931875,OMIM:203300; MedGen:CN169374	10	100189568	100189568	NM_000195.4:c.847G>T	NP_000186.2:p.Gly283Trp	NC_000010.10:g.100189568C>A	-	C2931875 203300 Hermansky-Pudlak syndrome 1; CN169374 not specified
NM_000195.4(HPS1):c.716T>C (p.Leu239Pro)	3257	HPS1	Pathogenic	281865080	RCV000020197;	N	MedGen:C2931875,OMIM:203300	10	100190380	100190380	NM_000195.4:c.716T>C	NP_000186.2:p.Leu239Pro	NC_000010.10:g.100190380A>G	-	C2931875 203300 Hermansky-Pudlak syndrome 1
NM_000195.4(HPS1):c.532dupC (p.Gln178Profs)	3257	HPS1	Pathogenic	281865079	RCV000020196;	N	MedGen:C2931875,OMIM:203300	10	100191024	100191024	NM_000195.4:c.532dupC	NP_000186.2:p.Gln178Profs	NC_000010.10:g.100191024dupG	-	C2931875 203300 Hermansky-Pudlak syndrome 1
NM_000195.4(HPS1):c.418delG (p.Ala140Argfs)	3257	HPS1	Pathogenic	281865078	RCV000020195;	N	MedGen:C2931875,OMIM:203300	10	100193829	100193829	NM_000195.4:c.418delG	NP_000186.2:p.Ala140Argfs	NC_000010.10:g.100193829delC	-	C2931875 203300 Hermansky-Pudlak syndrome 1
NM_000195.4(HPS1):c.398+5G>A	3257	HPS1	Pathogenic	281865077	RCV000005601;	N	MedGen:C2931875,OMIM:203300	10	100195024	100195024	NM_000195.4:c.398+5G>A		NC_000010.10:g.100195024C>T	OMIM Allelic Variant:604982.0007	C2931875 203300 Hermansky-Pudlak syndrome 1
NM_000195.4(HPS1):c.397G>T (p.Glu133Ter)	3257	HPS1	Pathogenic	121908386	RCV000005599;	N	MedGen:C2931875,OMIM:203300	10	100195030	100195030	NM_000195.4:c.397G>T	NP_000186.2:p.Glu133Ter	NC_000010.10:g.100195030C>A	OMIM Allelic Variant:604982.0005	C2931875 203300 Hermansky-Pudlak syndrome 1
NM_000195.4(HPS1):c.391C>T (p.Arg131Ter)	3257	HPS1	Pathogenic	281865076	RCV000020194;	N	MedGen:C2931875,OMIM:203300	10	100195036	100195036	NM_000195.4:c.391C>T	NP_000186.2:p.Arg131Ter	NC_000010.10:g.100195036G>A	-	C2931875 203300 Hermansky-Pudlak syndrome 1
NM_000195.4(HPS1):c.355delC (p.His119Thrfs)	3257	HPS1	Pathogenic	281865075	RCV000020193;	N	MedGen:C2931875,OMIM:203300	10	100195072	100195072	NM_000195.4:c.355delC	NP_000186.2:p.His119Thrfs	NC_000010.10:g.100195072delG	-	C2931875 203300 Hermansky-Pudlak syndrome 1
NM_000195.4(HPS1):c.288delT (p.Asp97Thrfs)	3257	HPS1	Pathogenic	281865074	RCV000020192;	N	MedGen:C2931875,OMIM:203300	10	100195139	100195139	NM_000195.4:c.288delT	NP_000186.2:p.Asp97Thrfs	NC_000010.10:g.100195139delA	-	C2931875 203300 Hermansky-Pudlak syndrome 1
NM_000195.4(HPS1):c.166_168delATC (p.Ile56del)	3257	HPS1	Pathogenic	281865073	RCV000020185;	N	MedGen:C2931875,OMIM:203300	10	100195479	100195481	NM_000195.4:c.166_168delATC	NP_000186.2:p.Ile56del	NC_000010.10:g.100195479_100195481delGAT	-	C2931875 203300 Hermansky-Pudlak syndrome 1