MCID: HRM020
MIFTS: 25

Hermansky-Pudlak Syndrome 10

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

Aliases & Classifications for Hermansky-Pudlak Syndrome 10

MalaCards integrated aliases for Hermansky-Pudlak Syndrome 10:

Name: Hermansky-Pudlak Syndrome 10 54 71 29
Hps10 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

OMIM 54 617050
MedGen 40 CN230106
MeSH 42 D022861

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. An important gene associated with Hermansky-Pudlak Syndrome 10 is AP3D1 (Adaptor Related Protein Complex 3 Delta 1 Subunit). The drugs Aspirin and Ticlopidine have been mentioned in the context of this disorder. Affiliated tissues include lung, neutrophil and bone.

OMIM : 54
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:

54

Muscle Soft Tissue:
hypotonia

Neurologic- Central Nervous System:
dystonia
abnormal eeg
cerebral atrophy
seizures, refractory
delayed myelination
more
Respiratory:
recurrent respiratory infections

Abdomen- Spleen:
splenomegaly

Head And Neck- Face:
flat philtrum
retrognathia

Respiratory- Lung:
interstitial lung disease

Skeletal- Pelvis:
flat acetabulae

Skin Nails & Hair- Hair:
poorly pigmented hair

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

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

Abdomen- Liver:
hepatomegaly

Head And Neck- Head:
microcephaly

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

Abdomen- Gastroin testinal:
feeding difficulties

Skin Nails & Hair- Skin:
cutaneous albinism


Clinical features from OMIM:

617050

Drugs & Therapeutics for Hermansky-Pudlak Syndrome 10

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

(show all 33)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aspirin Approved, Vet_approved Phase 1 50-78-2 2244
2
Ticlopidine Approved Phase 1 55142-85-3 5472
3
Amlodipine Approved Phase 1 88150-42-9 2162
4
Telmisartan Approved, Investigational Phase 1 144701-48-4 65999
5
Glimepiride Approved Phase 1 93479-97-1 3476
6
Clopidogrel Approved, Nutraceutical Phase 1 120202-66-6, 113665-84-2 60606
7
Angiotensin II Investigational Phase 1 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
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:


id 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:

id Genetic test Affiliating Genes
1 Hermansky-Pudlak Syndrome 10 29

Anatomical Context for Hermansky-Pudlak Syndrome 10

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

39
Lung, Neutrophil, Bone, T Cells, Bone Marrow

Publications for Hermansky-Pudlak Syndrome 10

Variations for Hermansky-Pudlak Syndrome 10

ClinVar genetic disease variations for Hermansky-Pudlak Syndrome 10:

6
id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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