MCID: HRM020
MIFTS: 30

Hermansky-Pudlak Syndrome 10

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

Aliases & Classifications for Hermansky-Pudlak Syndrome 10

MalaCards integrated aliases for Hermansky-Pudlak Syndrome 10:

Name: Hermansky-Pudlak Syndrome 10 53 71 28
Hps10 53 71

Characteristics:

OMIM:

53
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:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hermansky-Pudlak Syndrome 10

UniProtKB/Swiss-Prot : 71 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, and has symptoms including dystonia, low-set ears and nystagmus. An important gene associated with Hermansky-Pudlak Syndrome 10 is AP3D1 (Adaptor Related Protein Complex 3 Delta 1 Subunit). The drugs Aspirin and Clopidogrel have been mentioned in the context of this disorder. Affiliated tissues include lung, bone and bone marrow.

OMIM : 53 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

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
dystonia
generalized tonic-clonic seizures
cerebral atrophy
delayed myelination
seizures, refractory
more
Head And Neck Eyes:
nystagmus
hypotelorism
ocular albinism
lack of ocular fixation

Respiratory:
recurrent respiratory infections

Head And Neck Head:
microcephaly

Abdomen Gastroin testinal:
feeding difficulties

Muscle Soft Tissue:
hypotonia

Skin Nails Hair Skin:
cutaneous albinism

Skin Nails Hair Hair:
poorly pigmented hair

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

Abdomen Spleen:
splenomegaly

Abdomen Liver:
hepatomegaly

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

Head And Neck Face:
retrognathia
flat philtrum

Respiratory Lung:
interstitial lung disease

Skeletal Pelvis:
flat acetabulae


Clinical features from OMIM:

617050

Human phenotypes related to Hermansky-Pudlak Syndrome 10:

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

Drugs & Therapeutics for Hermansky-Pudlak Syndrome 10

Drugs for Hermansky-Pudlak Syndrome 10 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 33)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aspirin Approved, Vet_approved Phase 1 50-78-2 2244
2
Clopidogrel Approved Phase 1 120202-66-6, 113665-84-2 60606
3
Ticlopidine Approved Phase 1 55142-85-3 5472
4
Amlodipine Approved Phase 1 88150-42-9 2162
5
Angiotensin II Approved, Investigational Phase 1 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
6
Telmisartan Approved, Investigational Phase 1 144701-48-4 65999
7
Glimepiride Approved Phase 1 93479-97-1 3476
8 Analgesics Phase 1
9 Analgesics, Non-Narcotic Phase 1
10 Anti-Inflammatory Agents Phase 1
11 Anti-Inflammatory Agents, Non-Steroidal Phase 1
12 Antipyretics Phase 1
13 Antirheumatic Agents Phase 1
14 Cyclooxygenase Inhibitors Phase 1
15 Cytochrome P-450 Enzyme Inhibitors Phase 1
16 Fibrinolytic Agents Phase 1
17 Neurotransmitter Agents Phase 1
18 Peripheral Nervous System Agents Phase 1
19 Platelet Aggregation Inhibitors Phase 1
20 Purinergic P2 Receptor Antagonists Phase 1
21 Purinergic P2Y Receptor Antagonists Phase 1
22 Angiotensin II Type 1 Receptor Blockers Phase 1
23 Angiotensin Receptor Antagonists Phase 1
24 Angiotensinogen Phase 1
25 Antihypertensive Agents Phase 1
26 calcium channel blockers Phase 1
27 Calcium, Dietary Phase 1
28 Vasodilator Agents Phase 1
29 Imatinib Mesylate Phase 1 123596
30 Protein Kinase Inhibitors Phase 1
31 Anti-Arrhythmia Agents Phase 1
32 Hypoglycemic Agents Phase 1
33 Immunosuppressive Agents Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Comparative Pharmacokinetics Study of Clopidogrel and Aspirin Fixed-dose Combination Versus Separate Combination Completed NCT01663038 Phase 1 Clopidogrel;Fixed dose combination of clopidogrel/Aspirin;Aspirin
2 CKD-828 (40/5mg) Pharmacokinetic Study Completed NCT01340131 Phase 1 CKD-828;Combination Therapy
3 Study to Evaluate the Pharmacokinetic Characteristics of Luckyvec 400mg Tablet, in Healthy Subjects Completed NCT01270984 Phase 1 Luckyvec 400mg film coated tablet;Glivec 100mg film coated tablet
4 CKD-828(80/2.5mg) Pharmacokinetic Study Completed NCT01246193 Phase 1 CKD-828(FDC);Combination Therapy
5 The Pharmacokinetic Interaction Between CKD-501 and Sulfonylurea Completed NCT01133431 Phase 1 CKD-501 0.5 mg tablet, Glimepiride 4 mg tablet;CKD-501 placebo tablet, Glimepiride 4 mg tablet

Search 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 28 AP3D1

Anatomical Context for Hermansky-Pudlak Syndrome 10

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

38
Lung, Bone, Bone Marrow, Neutrophil, T Cells

Publications for Hermansky-Pudlak Syndrome 10

Variations for Hermansky-Pudlak Syndrome 10

ClinVar genetic disease variations for Hermansky-Pudlak Syndrome 10:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 AP3D1 NM_001261826.1(AP3D1): c.3565_3566delGT (p.Val1189Leufs) deletion Pathogenic rs879255646 GRCh37 Chromosome 19, 2102254: 2102255

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
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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