MCID: HRM007
MIFTS: 28

Hermansky-Pudlak Syndrome 4

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

Aliases & Classifications for Hermansky-Pudlak Syndrome 4

MalaCards integrated aliases for Hermansky-Pudlak Syndrome 4:

Name: Hermansky-Pudlak Syndrome 4 53 12 71 28 13 14 69
Hps4 53 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

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
hermansky-pudlak syndrome 4:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 614073
Disease Ontology 12 DOID:0060542
MedGen 39 C3484357
MeSH 41 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 1, 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). Affiliated tissues include lung, skin and retina.

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.

OMIM : 53 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)

Related Diseases for Hermansky-Pudlak Syndrome 4

Diseases in the Hermansky-Pudlak Syndrome family:

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

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

# Related Disease Score Top Affiliating Genes
1 isolated delta-storage pool disease 12.3
2 hermansky-pudlak syndrome 1 11.4
3 hermansky-pudlak syndrome 10.1
4 albinism 10.1

Symptoms & Phenotypes for Hermansky-Pudlak Syndrome 4

Symptoms via clinical synopsis from OMIM:

53
Respiratory Lung:
pulmonary fibrosis
restrictive lung disease

Head And Neck Nose:
epistaxis

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

Abdomen Gastroin testinal:
granulomatous colitis

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

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

Genitourinary Internal Genitalia Female:
menorrhagia

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

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


Clinical features from OMIM:

614073

Human phenotypes related to Hermansky-Pudlak Syndrome 4:

31
# Description HPO Frequency HPO Source Accession
1 pulmonary fibrosis 31 HP:0002206
2 ocular albinism 31 HP:0001107
3 albinism 31 HP:0001022
4 abnormal platelet granules 31 HP:0011883

UMLS symptoms related to Hermansky-Pudlak Syndrome 4:


abdominal pain

Drugs & Therapeutics for Hermansky-Pudlak Syndrome 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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:

# Genetic test Affiliating Genes
1 Hermansky-Pudlak Syndrome 4 28 HPS4

Anatomical Context for Hermansky-Pudlak Syndrome 4

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

38
Lung, Skin, Retina

Publications for Hermansky-Pudlak Syndrome 4

Articles related to Hermansky-Pudlak Syndrome 4:

# 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)
# Gene Variation Type Significance SNP ID Assembly Location
1 HPS4 NM_022081.5(HPS4): c.1866delC (p.Thr623Profs) deletion Pathogenic rs281865099 GRCh37 Chromosome 22, 26853914: 26853914
2 HPS4 NM_022081.5(HPS4): c.461A> G (p.His154Arg) single nucleotide variant Pathogenic rs281865098 GRCh37 Chromosome 22, 26868308: 26868308
3 HPS4 NM_022081.5(HPS4): c.57dupT (p.Leu20Serfs) duplication Pathogenic rs281865097 GRCh37 Chromosome 22, 26875306: 26875306
4 HPS4 NM_022081.5(HPS4): c.1891C> T (p.Gln631Ter) single nucleotide variant Pathogenic rs119471021 GRCh37 Chromosome 22, 26853889: 26853889
5 HPS4 NM_022081.5(HPS4): c.2089_2093dupAAGCA (p.Lys699Serfs) duplication Pathogenic rs281865100 GRCh38 Chromosome 22, 26453267: 26453271
6 HPS4 NM_022081.5(HPS4): c.57delT (p.Leu20Phefs) deletion Pathogenic rs863223278 GRCh38 Chromosome 22, 26479340: 26479340
7 HPS4 NM_022081.5(HPS4): c.541C> T (p.Gln181Ter) single nucleotide variant Pathogenic rs119471022 GRCh37 Chromosome 22, 26866740: 26866740
8 HPS4 NM_022081.5(HPS4) duplication Pathogenic rs281865164 GRCh37 Chromosome 22, 26860624: 26860647
9 HPS4 NM_022081.5(HPS4): c.649C> T (p.Arg217Ter) single nucleotide variant Pathogenic rs119471023 GRCh37 Chromosome 22, 26864537: 26864537
10 HPS4 NM_022081.5(HPS4): c.412G> T (p.Glu138Ter) single nucleotide variant Pathogenic rs119471024 GRCh37 Chromosome 22, 26868357: 26868357
11 HPS4 NM_022081.5(HPS4): c.664G> T (p.Glu222Ter) single nucleotide variant Pathogenic rs119471025 GRCh37 Chromosome 22, 26864522: 26864522
12 HPS4 HPS4, 1-BP DEL, C, CODON 685 deletion Pathogenic
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
27 GO
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31 HPO
32 ICD10
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58 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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