MCID: HRM007
MIFTS: 27

Hermansky-Pudlak Syndrome 4

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

Aliases & Classifications for Hermansky-Pudlak Syndrome 4

MalaCards integrated aliases for Hermansky-Pudlak Syndrome 4:

Name: Hermansky-Pudlak Syndrome 4 57 12 75 29 13 6 15 73
Hps4 57 75
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells 73
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial 75
Hermansky-Pudlak Syndrome, Type 4 40
Platelet Storage Pool Deficiency 73
Delta Storage Pool Disease 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
hermansky-pudlak syndrome 4:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 614073
Disease Ontology 12 DOID:0060542
MedGen 42 C3484357
MeSH 44 D022861

Summaries for Hermansky-Pudlak Syndrome 4

UniProtKB/Swiss-Prot : 75 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 abdominal pain 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, and related phenotypes are pulmonary fibrosis and ocular albinism

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 : 57 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:

57
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 Gastrointestinal:
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:

32
# 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

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 29 HPS4

Anatomical Context for Hermansky-Pudlak Syndrome 4

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

41
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 32)
# Gene Variation Type Significance SNP ID Assembly Location
1 HPS4 NM_022081.5(HPS4): c.541C> T (p.Gln181Ter) single nucleotide variant Pathogenic rs119471022 GRCh37 Chromosome 22, 26866740: 26866740
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.1891C> T (p.Gln631Ter) single nucleotide variant Pathogenic rs119471021 GRCh38 Chromosome 22, 26457923: 26457923
4 HPS4 NM_022081.5(HPS4): c.2089_2093dupAAGCA (p.Lys699Serfs) duplication Pathogenic rs281865100 GRCh38 Chromosome 22, 26453267: 26453271
5 HPS4 NM_022081.5(HPS4): c.2089_2093dupAAGCA (p.Lys699Serfs) duplication Pathogenic rs281865100 GRCh37 Chromosome 22, 26849233: 26849237
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.57delT (p.Leu20Phefs) deletion Pathogenic rs863223278 GRCh37 Chromosome 22, 26875306: 26875306
8 HPS4 NM_022081.5(HPS4): c.541C> T (p.Gln181Ter) single nucleotide variant Pathogenic rs119471022 GRCh38 Chromosome 22, 26470774: 26470774
9 HPS4 NM_022081.5(HPS4) duplication Pathogenic rs281865164 GRCh37 Chromosome 22, 26860624: 26860647
10 HPS4 NM_022081.5(HPS4) duplication Pathogenic rs281865164 GRCh38 Chromosome 22, 26464658: 26464681
11 HPS4 NM_022081.5(HPS4): c.649C> T (p.Arg217Ter) single nucleotide variant Pathogenic rs119471023 GRCh37 Chromosome 22, 26864537: 26864537
12 HPS4 NM_022081.5(HPS4): c.649C> T (p.Arg217Ter) single nucleotide variant Pathogenic rs119471023 GRCh38 Chromosome 22, 26468571: 26468571
13 HPS4 NM_022081.5(HPS4): c.412G> T (p.Glu138Ter) single nucleotide variant Pathogenic rs119471024 GRCh37 Chromosome 22, 26868357: 26868357
14 HPS4 NM_022081.5(HPS4): c.412G> T (p.Glu138Ter) single nucleotide variant Pathogenic rs119471024 GRCh38 Chromosome 22, 26472391: 26472391
15 HPS4 NM_022081.5(HPS4): c.664G> T (p.Glu222Ter) single nucleotide variant Pathogenic rs119471025 GRCh37 Chromosome 22, 26864522: 26864522
16 HPS4 NM_022081.5(HPS4): c.664G> T (p.Glu222Ter) single nucleotide variant Pathogenic rs119471025 GRCh38 Chromosome 22, 26468556: 26468556
17 HPS4 HPS4, 1-BP DEL, C, CODON 685 deletion Pathogenic
18 HPS4 NM_022081.5(HPS4): c.1866delC (p.Thr623Profs) deletion Pathogenic rs281865099 GRCh37 Chromosome 22, 26853914: 26853914
19 HPS4 NM_022081.5(HPS4): c.1866delC (p.Thr623Profs) deletion Pathogenic rs281865099 GRCh38 Chromosome 22, 26457948: 26457948
20 HPS4 NM_022081.5(HPS4): c.461A> G (p.His154Arg) single nucleotide variant Pathogenic rs281865098 GRCh37 Chromosome 22, 26868308: 26868308
21 HPS4 NM_022081.5(HPS4): c.461A> G (p.His154Arg) single nucleotide variant Pathogenic rs281865098 GRCh38 Chromosome 22, 26472342: 26472342
22 HPS4 NM_022081.5(HPS4): c.57dupT (p.Leu20Serfs) duplication Pathogenic rs281865097 GRCh37 Chromosome 22, 26875306: 26875306
23 HPS4 NM_022081.5(HPS4): c.57dupT (p.Leu20Serfs) duplication Pathogenic rs281865097 GRCh38 Chromosome 22, 26479340: 26479340
24 HPS4 NM_022081.5(HPS4): c.250A> G (p.Ile84Val) single nucleotide variant Conflicting interpretations of pathogenicity rs149830675 GRCh38 Chromosome 22, 26477019: 26477019
25 HPS4 NM_022081.5(HPS4): c.250A> G (p.Ile84Val) single nucleotide variant Conflicting interpretations of pathogenicity rs149830675 GRCh37 Chromosome 22, 26872985: 26872985
26 HPS4 NM_022081.5(HPS4): c.710C> T (p.Ala237Val) single nucleotide variant Conflicting interpretations of pathogenicity rs77597168 GRCh38 Chromosome 22, 26465548: 26465548
27 HPS4 NM_022081.5(HPS4): c.710C> T (p.Ala237Val) single nucleotide variant Conflicting interpretations of pathogenicity rs77597168 GRCh37 Chromosome 22, 26861514: 26861514
28 HPS4 NM_022081.5(HPS4): c.1883G> A (p.Arg628His) single nucleotide variant Benign/Likely benign rs78892693 GRCh37 Chromosome 22, 26853897: 26853897
29 HPS4 NM_022081.5(HPS4): c.1883G> A (p.Arg628His) single nucleotide variant Benign/Likely benign rs78892693 GRCh38 Chromosome 22, 26457931: 26457931
30 HPS4 HPS4, HIS154ARG undetermined variant Pathogenic
31 HPS4 NM_022081.5(HPS4): c.446delAinsAA (p.Asn149Lysfs) indel Pathogenic GRCh37 Chromosome 22, 26868323: 26868323
32 HPS4 NM_022081.5(HPS4): c.446delAinsAA (p.Asn149Lysfs) indel Pathogenic GRCh38 Chromosome 22, 26472357: 26472357

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

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74 UMLS via Orphanet
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