HPS11
MCID: HRM023
MIFTS: 21

Hermansky-Pudlak Syndrome 11 (HPS11)

Categories: Blood diseases, Eye diseases, Genetic diseases, Immune diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Hermansky-Pudlak Syndrome 11

MalaCards integrated aliases for Hermansky-Pudlak Syndrome 11:

Name: Hermansky-Pudlak Syndrome 11 57 29 6
Hps11 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
based on a report of 2 unrelated women (last curated january 2021)


Classifications:



External Ids:

OMIM® 57 619172
OMIM Phenotypic Series 57 PS203300

Summaries for Hermansky-Pudlak Syndrome 11

OMIM® : 57 Hermansky-Pudlak syndrome-11 (HPS11) is characterized by mild oculocutaneous albinism in association with a moderate bleeding diathesis. Patients lack detectable platelet dense granules, and show mildly impaired activation-induced ATP release and platelet aggregation in vitro (Pennamen et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of Hermansky-Pudlak syndrome, see HPS1 (203300). (619172) (Updated 05-Apr-2021)

MalaCards based summary : Hermansky-Pudlak Syndrome 11, also known as hps11, is related to oculocutaneous albinism, type viii and albinism. An important gene associated with Hermansky-Pudlak Syndrome 11 is BLOC1S5 (Biogenesis Of Lysosomal Organelles Complex 1 Subunit 5).

Related Diseases for Hermansky-Pudlak Syndrome 11

Symptoms & Phenotypes for Hermansky-Pudlak Syndrome 11

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
nystagmus
photophobia
strabismus
iris transillumination
foveal hypoplasia
more
Genitourinary Internal Genitalia Female:
menorrhagia

Skin Nails Hair Skin:
easy bruising
skin lighter in color than unaffected relatives

Skin Nails Hair Hair:
hair lighter in color than unaffected relatives

Head And Neck Mouth:
gingival bleeding

Hematology:
absent platelet dense granules
bleeding diathesis
impaired platelet aggregation, mild

Head And Neck Nose:
epistaxis, episodic

Clinical features from OMIM®:

619172 (Updated 05-Apr-2021)

Drugs & Therapeutics for Hermansky-Pudlak Syndrome 11

Search Clinical Trials , NIH Clinical Center for Hermansky-Pudlak Syndrome 11

Genetic Tests for Hermansky-Pudlak Syndrome 11

Genetic tests related to Hermansky-Pudlak Syndrome 11:

# Genetic test Affiliating Genes
1 Hermansky-Pudlak Syndrome 11 29 BLOC1S5

Anatomical Context for Hermansky-Pudlak Syndrome 11

Publications for Hermansky-Pudlak Syndrome 11

Articles related to Hermansky-Pudlak Syndrome 11:

# Title Authors PMID Year
1
BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome. 6 57
32565547 2020
2
HPS11 and OCA8: Two new types of albinism associated with mutations in BLOC1S5 and DCT genes. 61
32969584 2021

Variations for Hermansky-Pudlak Syndrome 11

ClinVar genetic disease variations for Hermansky-Pudlak Syndrome 11:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BLOC1S5 NM_201280.2:c.196-678_384+3483del Deletion Pathogenic 996012 GRCh37:
GRCh38:
2 BLOC1S5-TXNDC5 , EEF1E1-BLOC1S5 , BLOC1S5 NM_201280.3(BLOC1S5):c.345del (p.Val116fs) Deletion Pathogenic 870631 GRCh37: 6:8026639-8026639
GRCh38: 6:8026406-8026406

Expression for Hermansky-Pudlak Syndrome 11

Search GEO for disease gene expression data for Hermansky-Pudlak Syndrome 11.

Pathways for Hermansky-Pudlak Syndrome 11

GO Terms for Hermansky-Pudlak Syndrome 11

Cellular components related to Hermansky-Pudlak Syndrome 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transport vesicle GO:0030133 8.96 BLOC1S5-TXNDC5 BLOC1S5
2 BLOC-1 complex GO:0031083 8.62 BLOC1S5-TXNDC5 BLOC1S5

Sources for Hermansky-Pudlak Syndrome 11

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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