Hermansky-Pudlak syndrome with pulmonary fibrosis

General Information (adopted from Orphanet):

Synonyms, Signs: HPS1
HPS4
HPS with pulmonary fibrosis
Number of Symptoms 37
OrphanetNr: 231500
OMIM Id: 203300
614073
ICD-10: E70.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
25728501 [IBIS]
Age of onset: Neonatal
Infancy
Adult
26029628 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Hermansky-Pudlak syndrome
 -Rare eye disease
 -Rare genetic disease
 -Rare hematologic disease
 -Rare skin disease
Secondary interstitial lung disease specific to childhood associated with a metabolic disease
 -Rare respiratory disease

Comment:

Hermansky-Pudlak syndrome with pulmonary fibrosis is characterized by platelet dysfunction, oculocutaneous albinism, and life-threatening pulmonary fibrosis. Pulmonary symptoms typically occur during the third or fourth decade of life representing with giant lamellar bodies of alveolar type-II-cells and their apparent degeneration causes restrictive lung disease (PMID:24284295). age of onset: adult: 26029628 Currently nine genes are known to be involved in the development of the disease, among which HPS1, HPS2 and HPS4 are associated with pulmonary fibrosis (PMID:25447654).

Symptom Information: Sort by abundance 

1
 (HPO:0002094) Dyspnea 25379352 IBIS 132 / 7739
2
 (HPO:0005952) Decreased pulmonary function 25379352 IBIS 8 / 7739
3
 (HPO:0012418) Hypoxemia 25379352 IBIS 18 / 7739
4
 (HPO:0006530) Interstitial pulmonary disease 25447654 IBIS 26 / 7739
5
 (HPO:0002110) Bronchiectasis 25447654 IBIS 73 / 7739
6
 (HPO:0002792) Reduced vital capacity 25447654 IBIS 17 / 7739
7
 (HPO:0045051) Decreased DLCO 25447654 IBIS 1 / 7739
8
 (HPO:0002111) Restrictive deficit on pulmonary function testing 25447654 IBIS 25 / 7739
9
 (HPO:0012735) Cough 25447654 IBIS 24 / 7739
10
 (HPO:0002875) Exertional dyspnea 25447654 IBIS 29 / 7739
11
 (HPO:0000646) Amblyopia 25447654 IBIS 42 / 7739
12
 (HPO:0002878) Respiratory failure 25447654 IBIS 57 / 7739
13
 (HPO:0011813) Increased cerebral lipofuscin Frequent [IBIS] 25447654 IBIS 4 / 7739
14
 (HPO:0001892) Abnormal bleeding Frequent [IBIS] 25447654 IBIS 85 / 7739
15
 (HPO:0001010) Hypopigmentation of the skin Frequent [IBIS] 25447654 IBIS 46 / 7739
16
 (HPO:0011869) Abnormal platelet function Very frequent [IBIS] 25728501 IBIS 12 / 7739
17
 (HPO:0000083) Renal insufficiency 232 / 7739
18
 (HPO:0000225) Gingival bleeding 28 / 7739
19
 (HPO:0000421) Epistaxis 85 / 7739
20
 (HPO:0001107) Ocular albinism Frequent [IBIS] 25447654 IBIS 40 / 7739
21
 (HPO:0000639) Nystagmus 555 / 7739
22
 (HPO:0001141) Severe visual impairment 11 / 7739
23
 (HPO:0002027) Abdominal pain 184 / 7739
24
 (HPO:0002573) Hematochezia 18 / 7739
25
 (HPO:0002037) Inflammation of the large intestine 25 / 7739
26
 (HPO:0001595) Abnormality of the hair 89 / 7739
27
 (HPO:0000978) Bruising susceptibility 123 / 7739
28
 (HPO:0000995) Melanocytic nevus 63 / 7739
29
 (HPO:0001480) Freckling 13 / 7739
30
 (HPO:0007603) Freckles in sun-exposed areas 3 / 7739
31
 (HPO:0001022) Albinism Frequent [IBIS] 25447654 IBIS 43 / 7739
32
 (HPO:0001638) Cardiomyopathy 192 / 7739
33
 (HPO:0003010) Prolonged bleeding time 25447654 IBIS 88 / 7739
34
 (HPO:0002206) Pulmonary fibrosis Very frequent [IBIS] 25728501 IBIS 51 / 7739
35
 (HPO:0002091) Restrictive ventilatory defect 46 / 7739
36
 (HPO:0001425) Heterogeneous 132 / 7739
37
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

HPS1; HPS4;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: