HPS10
MCID: HRM020
MIFTS: 25

Hermansky-Pudlak Syndrome 10 (HPS10)

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

Aliases & Classifications for Hermansky-Pudlak Syndrome 10

MalaCards integrated aliases for Hermansky-Pudlak Syndrome 10:

Name: Hermansky-Pudlak Syndrome 10 56 73 29 6
Hps10 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
one patient born of consanguineous turkish parents has been reported (last curated july 2016)


HPO:

31
hermansky-pudlak syndrome 10:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Hermansky-Pudlak Syndrome 10

UniProtKB/Swiss-Prot : 73 Hermansky-Pudlak syndrome 10: 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. HPS10 patients manifest albinism, neutropenia, immunodeficiency, neurodevelopmental delay, generalized seizures, and impaired hearing.

MalaCards based summary : Hermansky-Pudlak Syndrome 10, is also known as hps10. An important gene associated with Hermansky-Pudlak Syndrome 10 is AP3D1 (Adaptor Related Protein Complex 3 Subunit Delta 1). Affiliated tissues include lung, bone and bone marrow, and related phenotypes are low-set ears and eeg abnormality

OMIM : 56 Hermansky-Pudlak syndrome-10 is an autosomal recessive multisystem disorder characterized by infantile onset of immunodeficiency, oculocutaneous albinism, and severe neurologic impairment, including severely delayed global development and intractable seizures (summary by Ammann et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of Hermansky-Pudlak syndrome, see HPS1 (203300). (617050)

Related Diseases for Hermansky-Pudlak Syndrome 10

Symptoms & Phenotypes for Hermansky-Pudlak Syndrome 10

Human phenotypes related to Hermansky-Pudlak Syndrome 10:

31 (show all 24)
# Description HPO Frequency HPO Source Accession
1 low-set ears 31 HP:0000369
2 eeg abnormality 31 HP:0002353
3 nystagmus 31 HP:0000639
4 splenomegaly 31 HP:0001744
5 hepatomegaly 31 HP:0002240
6 macrotia 31 HP:0000400
7 recurrent respiratory infections 31 HP:0002205
8 feeding difficulties 31 HP:0011968
9 microcephaly 31 HP:0000252
10 smooth philtrum 31 HP:0000319
11 immunodeficiency 31 HP:0002721
12 generalized hypotonia 31 HP:0001290
13 generalized myoclonic seizures 31 HP:0002123
14 retrognathia 31 HP:0000278
15 dystonia 31 HP:0001332
16 generalized tonic-clonic seizures 31 HP:0002069
17 neutropenia 31 HP:0001875
18 hypotelorism 31 HP:0000601
19 ocular albinism 31 HP:0001107
20 delayed myelination 31 HP:0012448
21 cerebral atrophy 31 HP:0002059
22 interstitial pulmonary abnormality 31 HP:0006530
23 muscular hypotonia of the trunk 31 HP:0008936
24 albinism 31 HP:0001022

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
low-set ears
large ears
decreased brainstem-evoked auditory potentials
reduced otoacoustic potentials

Abdomen Spleen:
splenomegaly

Respiratory:
recurrent respiratory infections

Head And Neck Head:
microcephaly

Head And Neck Face:
retrognathia
flat philtrum

Muscle Soft Tissue:
hypotonia

Skin Nails Hair Skin:
cutaneous albinism

Skin Nails Hair Hair:
poorly pigmented hair

Head And Neck Eyes:
nystagmus
hypotelorism
ocular albinism
lack of ocular fixation

Abdomen Liver:
hepatomegaly

Abdomen Gastrointestinal:
feeding difficulties

Immunology:
immunodeficiency
neutropenia
increased ige
impaired nk and t-cell degranulation
bone marrow shows hypersegmented neutrophils

Neurologic Central Nervous System:
dystonia
generalized tonic-clonic seizures
delayed myelination
cerebral atrophy
myoclonic seizures
more
Respiratory Lung:
interstitial lung disease

Skeletal Pelvis:
flat acetabulae

Clinical features from OMIM:

617050

Drugs & Therapeutics for Hermansky-Pudlak Syndrome 10

Search Clinical Trials , NIH Clinical Center for Hermansky-Pudlak Syndrome 10

Genetic Tests for Hermansky-Pudlak Syndrome 10

Genetic tests related to Hermansky-Pudlak Syndrome 10:

# Genetic test Affiliating Genes
1 Hermansky-Pudlak Syndrome 10 29 AP3D1

Anatomical Context for Hermansky-Pudlak Syndrome 10

MalaCards organs/tissues related to Hermansky-Pudlak Syndrome 10:

40
Lung, Bone, Bone Marrow, T Cells, Neutrophil, Prostate, Eye

Publications for Hermansky-Pudlak Syndrome 10

Articles related to Hermansky-Pudlak Syndrome 10:

# Title Authors PMID Year
1
Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome. 61 56 6
26744459 2016
2
Hermansky-Pudlak Syndrome 6
20301464 2000
3
Mutation in AP-3 delta in the mocha mouse links endosomal transport to storage deficiency in platelets, melanosomes, and synaptic vesicles. 56
9697856 1998
4
Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder. 61
30472485 2019
5
Instability of BLOC-2 and BLOC-3 in Chinese patients with Hermansky-Pudlak syndrome. 61
30387913 2019
6
Novel mutation in two brothers with Hermansky Pudlak syndrome type 3. 61
28284561 2017
7
An Arabidopsis ABC Transporter Mediates Phosphate Deficiency-Induced Remodeling of Root Architecture by Modulating Iron Homeostasis in Roots. 61
27847325 2017
8
NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndrome patients. 61
27593200 2016
9
Immunohistochemical evaluation of PCNA, p53, HSP60, HSP10 and MUC-2 presence and expression in prostate carcinogenesis. 61
12820390 2003

Variations for Hermansky-Pudlak Syndrome 10

ClinVar genetic disease variations for Hermansky-Pudlak Syndrome 10:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 AP3D1 NM_001261826.3(AP3D1):c.3565_3566del (p.Val1189fs)deletion Pathogenic 253144 rs879255646 19:2102254-2102255 19:2102255-2102256

Expression for Hermansky-Pudlak Syndrome 10

Search GEO for disease gene expression data for Hermansky-Pudlak Syndrome 10.

Pathways for Hermansky-Pudlak Syndrome 10

GO Terms for Hermansky-Pudlak Syndrome 10

Sources for Hermansky-Pudlak Syndrome 10

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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