HERMANSKY-PUDLAK SYNDROME 1

General Information (adopted from Orphanet):

Synonyms, Signs: ALBINISM WITH HEMORRHAGIC DIATHESIS AND PIGMENTED RETICULOENDOTHELIAL CELLS
DELTA STORAGE POOL DISEASE
HPS1
Number of Symptoms 30
OrphanetNr:
OMIM Id: 203300
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
Heterogeneous
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000083) Renal insufficiency 232 / 7739
2
(HPO:0000225) Gingival bleeding 28 / 7739
3
(HPO:0000421) Epistaxis 85 / 7739
4
(HPO:0001107) Ocular albinism 40 / 7739
5
(HPO:0000639) Nystagmus 555 / 7739
6
(HPO:0002573) Hematochezia 18 / 7739
7
(HPO:0002037) Inflammation of the large intestine 25 / 7739
8
(HPO:0002027) Abdominal pain 184 / 7739
9
(HPO:0000995) Melanocytic nevus 63 / 7739
10
(HPO:0001022) Albinism 43 / 7739
11
(HPO:0000978) Bruising susceptibility 123 / 7739
12
(HPO:0007603) Freckles in sun-exposed areas 3 / 7739
13
(HPO:0001638) Cardiomyopathy 192 / 7739
14
(HPO:0001892) Abnormal bleeding 85 / 7739
15
(HPO:0003010) Prolonged bleeding time 88 / 7739
16
(HPO:0002091) Restrictive ventilatory defect 46 / 7739
17
(HPO:0006530) Interstitial pulmonary disease 26 / 7739
18
(OMIM) Absent dense bodies in platelets 1 / 7739
19
(OMIM) Macular translucency (variable) 1 / 7739
20
(OMIM) Granulomatous colitis 1 / 7739
21
(OMIM) Hair bulb tyrosinase present 3 / 7739
22
(OMIM) Pigmented reticuloendothelial cells 1 / 7739
23
(OMIM) Tanning possible 1 / 7739
24
(OMIM) Iris transillumination 3 / 7739
25
(OMIM) Lifelong reduced visual acuity, legal blindness to low vision 1 / 7739
26
(OMIM) Iris color blue to brown 1 / 7739
27
(OMIM) Normal prothrombin and partial chromoplastin times 1 / 7739
28
(OMIM) Hair color white to brown 1 / 7739
29
(MedDRA:10035530) Platelet count normal 9 / 7739
30
(OMIM) Creamy white skin 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes (Oh et al., 1998).

- Genetic ...

Clinical Description OMIM Hermansky and Pudlak (1959) described 2 unrelated albinos with lifelong bleeding tendency and peculiar pigmented reticular cells in the bone marrow as well as in lymph node and liver biopsies. One was male and one female; both were ...
Genotype-Phenotype Correlations OMIM All identified patients with HPS in northwest Puerto Rico were found to be homozygous for the 16-bp duplication in exon 15 of the HPS1 gene (604982.0001). Gahl et al. (1998) compared the clinical and laboratory characteristics of these ...
Molecular genetics OMIM Oh et al. (1996) identified the HPS1 gene by positional cloning and found homozygous frameshifts in this gene in Puerto Rican, Swiss, Irish, and Japanese HPS patients. The HPS1 polypeptide is a novel transmembrane protein that is likely ...
Population genetics OMIM HPS may be the most frequent single-gene disorder in Puerto Rico and is frequent in an isolated mountain village high in the Swiss Alps (Schallreuter et al., 1993). Witkop (1986) estimated a frequency of about 1 in 2,000 ...