MCID: HRM007
MIFTS: 34

Hermansky-Pudlak Syndrome 4

Categories: Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Metabolic diseases, Blood diseases

Aliases & Classifications for Hermansky-Pudlak Syndrome 4

MalaCards integrated aliases for Hermansky-Pudlak Syndrome 4:

Name: Hermansky-Pudlak Syndrome 4 54 12 24 71 29 13 14 69
Hps4 24 71
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells 69
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial 71
Platelet Storage Pool Deficiency 69
Delta Storage Pool Disease 71
Hps 4 24

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
hermansky-pudlak syndrome 4:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 614073
Disease Ontology 12 DOID:0060542
MedGen 40 C3484357
MeSH 42 D022861

Summaries for Hermansky-Pudlak Syndrome 4

UniProtKB/Swiss-Prot : 71 Hermansky-Pudlak syndrome 4: A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS.

MalaCards based summary : Hermansky-Pudlak Syndrome 4, also known as hps4, is related to isolated delta-storage pool disease and hermansky-pudlak syndrome 2, and has symptoms including pulmonary fibrosis, ocular albinism and albinism. An important gene associated with Hermansky-Pudlak Syndrome 4 is HPS4 (HPS4, Biogenesis Of Lysosomal Organelles Complex 3 Subunit 2). The drugs Acetylcysteine and Erythromycin have been mentioned in the context of this disorder. Affiliated tissues include lung, skin and retina.

OMIM : 54
Hermansky-Pudlak syndrome-4 (HPS4) is characterized by oculocutaneous albinism in association with easy bruising or a bleeding tendency and absence of platelet dense bodies. Some patients also exhibit pulmonary fibrosis and/or granulomatous colitis (Anderson et al., 2003). For a general phenotypic description and a discussion of genetic heterogeneity of Hermansky-Pudlak syndrome, see HPS1 (203300). (614073)

Disease Ontology : 12 A Hermansky-Pudlak syndrome that has material basis in homozygous or compound heterozygous mutation in the HPS4 gene on chromosome 22q12.1.

Related Diseases for Hermansky-Pudlak Syndrome 4

Diseases in the Hermansky-Pudlak Syndrome family:

Hermansky-Pudlak Syndrome 3 Hermansky-Pudlak Syndrome 2
Hermansky-Pudlak Syndrome 7 Hermansky-Pudlak Syndrome 1
Hermansky-Pudlak Syndrome 6 Hermansky-Pudlak Syndrome 5
Hermansky-Pudlak Syndrome 9 Hermansky-Pudlak Syndrome 10
Hermansky-Pudlak Syndrome 8 Hermansky-Pudlak Syndrome 4

Diseases related to Hermansky-Pudlak Syndrome 4 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 isolated delta-storage pool disease 12.2
2 hermansky-pudlak syndrome 2 11.2
3 hermansky-pudlak syndrome 10.0
4 albinism 10.0

Symptoms & Phenotypes for Hermansky-Pudlak Syndrome 4

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
horizontal nystagmus
reduced visual acuity
foveal hypoplasia
iris transillumination
hypopigmentation of retina

Head And Neck- Nose:
epistaxis

Skin Nails & Hair- Skin:
easy bruising
skin pigment dilution, mild to severe, relative to unaffected family members

Skin Nails & Hair- Skin Histology:
normal number of melanocytes
reduced amount of melanin pigment in melanocytes
weakly pigmented basal cell layer
accumulation of ceroid pigment in perivascular macrophages

Skin Nails & Hair- Hair:
hair pigment, mild to severe, dilution relative to unaffected family members

Respiratory- Lung:
restrictive lung disease
pulmonary fibrosis

Hematology:
bleeding tendency
absence of platelet dense bodies
lack of secondary aggregation response of platelets

Genitourinary- Internal Genitalia Female:
menorrhagia

Abdomen- Gastroin testinal:
granulomatous colitis


Clinical features from OMIM:

614073

Human phenotypes related to Hermansky-Pudlak Syndrome 4:

32
id Description HPO Frequency HPO Source Accession
1 pulmonary fibrosis 32 HP:0002206
2 ocular albinism 32 HP:0001107
3 albinism 32 HP:0001022
4 abnormal platelet granules 32 HP:0011883

UMLS symptoms related to Hermansky-Pudlak Syndrome 4:


abdominal pain

Drugs & Therapeutics for Hermansky-Pudlak Syndrome 4

Drugs for Hermansky-Pudlak Syndrome 4 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 40)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
2
Erythromycin Approved, Vet_approved Phase 1, Phase 2 114-07-8 12560
3
Losartan Approved Phase 1, Phase 2 114798-26-4 3961
4
Pravastatin Approved Phase 1, Phase 2 81093-37-0 54687
5
Angiotensin II Investigational Phase 1, Phase 2 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
6 Analgesics Phase 1, Phase 2
7 Analgesics, Non-Narcotic Phase 1, Phase 2
8 Angiotensin II Type 1 Receptor Blockers Phase 1, Phase 2
9 Angiotensin Receptor Antagonists Phase 1, Phase 2
10 Angiotensinogen Phase 1, Phase 2
11 Anti-Arrhythmia Agents Phase 1, Phase 2
12 Anti-Bacterial Agents Phase 1, Phase 2
13 Anticholesteremic Agents Phase 1, Phase 2
14 Antidotes Phase 1, Phase 2
15 Antihypertensive Agents Phase 1, Phase 2
16 Anti-Infective Agents Phase 1, Phase 2
17 Anti-Inflammatory Agents Phase 1, Phase 2
18 Anti-Inflammatory Agents, Non-Steroidal Phase 1, Phase 2
19 Antimetabolites Phase 1, Phase 2
20 Antioxidants Phase 1, Phase 2
21 Antirheumatic Agents Phase 1, Phase 2
22 Antiviral Agents Phase 1, Phase 2
23 Erythromycin Estolate Phase 1, Phase 2
24 Erythromycin Ethylsuccinate Phase 1, Phase 2
25 Erythromycin stearate Phase 1, Phase 2
26 Expectorants Phase 1, Phase 2
27 Gastrointestinal Agents Phase 1, Phase 2
28 Hormone Antagonists Phase 1, Phase 2
29 Hormones Phase 1, Phase 2
30 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
31 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1, Phase 2
32 Hypolipidemic Agents Phase 1, Phase 2
33 Leukotriene Antagonists Phase 1, Phase 2
34 Lipid Regulating Agents Phase 1, Phase 2
35 Lipoxygenase Inhibitors Phase 1, Phase 2
36 N-monoacetylcystine Phase 1, Phase 2
37 Peripheral Nervous System Agents Phase 1, Phase 2
38 Pharmaceutical Solutions Phase 1, Phase 2
39 Protective Agents Phase 1, Phase 2
40 Respiratory System Agents Phase 1, Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Pilot Study of a Multi-Drug Regimen for Severe Pulmonary Fibrosis in Hermansky-Pudlak Syndrome Terminated NCT00467831 Phase 1, Phase 2 Losartan;Zileuton;N-Acetylcysteine;Pravastatin;Erythromycin
2 Medical Treatment of Colitis in Patients With Hermansky-Pudlak Syndrome Withdrawn NCT00514982 Phase 2 Mesalamine;Infliximab;Corticosteroids;6-Mercaptopurine;Tacrolimus;Adalimumab
3 A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis Recruiting NCT02368340

Search NIH Clinical Center for Hermansky-Pudlak Syndrome 4

Genetic Tests for Hermansky-Pudlak Syndrome 4

Genetic tests related to Hermansky-Pudlak Syndrome 4:

id Genetic test Affiliating Genes
1 Hermansky-Pudlak Syndrome 4 29 24 HPS4

Anatomical Context for Hermansky-Pudlak Syndrome 4

MalaCards organs/tissues related to Hermansky-Pudlak Syndrome 4:

39
Lung, Skin, Retina

Publications for Hermansky-Pudlak Syndrome 4

Articles related to Hermansky-Pudlak Syndrome 4:

id Title Authors Year
1
A deletion in the Hermansky-Pudlak syndrome 4 (Hps4) gene appears to be responsible for albinism in channel catfish. ( 28289846 )
2017

Variations for Hermansky-Pudlak Syndrome 4

ClinVar genetic disease variations for Hermansky-Pudlak Syndrome 4:

6 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1 HPS4 NM_022081.5(HPS4): c.541C> T (p.Gln181Ter) single nucleotide variant Pathogenic rs119471022 GRCh38 Chromosome 22, 26470774: 26470774
2 HPS4 NM_022081.5(HPS4): c.1891C> T (p.Gln631Ter) single nucleotide variant Pathogenic rs119471021 GRCh37 Chromosome 22, 26853889: 26853889
3 HPS4 NM_022081.5(HPS4): c.2089_2093dupAAGCA (p.Lys699Serfs) duplication Pathogenic rs281865100 GRCh38 Chromosome 22, 26453267: 26453271
4 HPS4 NM_022081.5(HPS4): c.57delT (p.Leu20Phefs) deletion Pathogenic rs863223278 GRCh38 Chromosome 22, 26479340: 26479340
5 HPS4 NM_022081.5(HPS4) duplication Pathogenic rs281865164 GRCh37 Chromosome 22, 26860624: 26860647
6 HPS4 NM_022081.5(HPS4): c.649C> T (p.Arg217Ter) single nucleotide variant Pathogenic rs119471023 GRCh37 Chromosome 22, 26864537: 26864537
7 HPS4 NM_022081.5(HPS4): c.412G> T (p.Glu138Ter) single nucleotide variant Pathogenic rs119471024 GRCh37 Chromosome 22, 26868357: 26868357
8 HPS4 NM_022081.5(HPS4): c.664G> T (p.Glu222Ter) single nucleotide variant Pathogenic rs119471025 GRCh37 Chromosome 22, 26864522: 26864522
9 HPS4 HPS4, 1-BP DEL, C, CODON 685 deletion Pathogenic
10 HPS4 NM_022081.5(HPS4): c.1866delC (p.Thr623Profs) deletion Pathogenic rs281865099 GRCh37 Chromosome 22, 26853914: 26853914
11 HPS4 NM_022081.5(HPS4): c.461A> G (p.His154Arg) single nucleotide variant Pathogenic rs281865098 GRCh37 Chromosome 22, 26868308: 26868308
12 HPS4 NM_022081.5(HPS4): c.57dupT (p.Leu20Serfs) duplication Pathogenic rs281865097 GRCh37 Chromosome 22, 26875306: 26875306
13 HPS4 HPS4, HIS154ARG undetermined variant Pathogenic

Expression for Hermansky-Pudlak Syndrome 4

Search GEO for disease gene expression data for Hermansky-Pudlak Syndrome 4.

Pathways for Hermansky-Pudlak Syndrome 4

GO Terms for Hermansky-Pudlak Syndrome 4

Sources for Hermansky-Pudlak Syndrome 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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