MCID: HRM020
MIFTS: 29

Hermansky-Pudlak Syndrome 10

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

Aliases & Classifications for Hermansky-Pudlak Syndrome 10

MalaCards integrated aliases for Hermansky-Pudlak Syndrome 10:

Name: Hermansky-Pudlak Syndrome 10 57 75 29 6
Hps10 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
hermansky-pudlak syndrome 10:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hermansky-Pudlak Syndrome 10

UniProtKB/Swiss-Prot : 75 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). The drugs Aspirin and Clopidogrel have been mentioned in the context of this disorder. Affiliated tissues include lung, neutrophil and t cells, and related phenotypes are microcephaly and retrognathia

OMIM : 57 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:

57
Head And Neck Ears:
low-set ears
large ears
decreased brainstem-evoked auditory potentials
reduced otoacoustic potentials

AbdomenSpleen:
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

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

Respiratory:
recurrent respiratory infections

Head And Neck Head:
microcephaly

Abdomen Gastrointestinal:
feeding difficulties

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

Skeletal Pelvis:
flat acetabulae


Clinical features from OMIM:

617050

Human phenotypes related to Hermansky-Pudlak Syndrome 10:

32 (show all 23)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 retrognathia 32 HP:0000278
3 smooth philtrum 32 HP:0000319
4 low-set ears 32 HP:0000369
5 macrotia 32 HP:0000400
6 hypotelorism 32 HP:0000601
7 nystagmus 32 HP:0000639
8 ocular albinism 32 HP:0001107
9 generalized hypotonia 32 HP:0001290
10 dystonia 32 HP:0001332
11 splenomegaly 32 HP:0001744
12 neutropenia 32 HP:0001875
13 cerebral atrophy 32 HP:0002059
14 generalized tonic-clonic seizures 32 HP:0002069
15 generalized myoclonic seizures 32 HP:0002123
16 recurrent respiratory infections 32 HP:0002205
17 hepatomegaly 32 HP:0002240
18 eeg abnormality 32 HP:0002353
19 immunodeficiency 32 HP:0002721
20 interstitial pulmonary abnormality 32 HP:0006530
21 muscular hypotonia of the trunk 32 HP:0008936
22 feeding difficulties 32 HP:0011968
23 delayed myelination 32 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 220127-57-1 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 29 AP3D1

Anatomical Context for Hermansky-Pudlak Syndrome 10

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

41
Lung, Neutrophil, T Cells, Bone Marrow, Bone

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
2 AP3D1 NM_001261826.1(AP3D1): c.3565_3566delGT (p.Val1189Leufs) deletion Pathogenic rs879255646 GRCh38 Chromosome 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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