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Hermansky-Pudlak syndrome 1(HPS1)

MedGen UID:
419514
Concept ID:
C2931875
Disease or Syndrome
Synonyms: Hermansky-Pudlak Syndrome; HPS1
Modes of inheritance:
Heterogeneous
MedGen UID:
67020
Concept ID:
C0242960
Organism Attribute
Source: HPO
The production of the same or similar phenotypes (observed biochemical, physiological, and morphological characteristics of a person determined by his/her genotype) by different genetic mechanisms. There are two types: (1) allelic heterogeneity - when different alleles at a locus can produce variable expression of a condition; and (2) locus heterogeneity - the term used to describe disease in which mutations at different loci can produce the same disease phenotype.
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Delta storage pool disease (9417000)
 
Gene (location): HPS1 (10q24.2)
OMIM®: 203300

Disease characteristics

Excerpted from the GeneReview: Hermansky-Pudlak Syndrome
Hermansky-Pudlak syndrome (HPS) is a multisystem disorder characterized by: tyrosinase-positive oculocutaneous albinism; a bleeding diathesis resulting from a platelet storage pool deficiency; and, in some cases, pulmonary fibrosis, granulomatous colitis, or immunodeficiency. The albinism is characterized by: hypopigmentation of the skin and hair; and ocular findings of reduced iris pigment with iris transillumination, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), nystagmus, and increased crossing of the optic nerve fibers. Hair color ranges from white to brown; skin color ranges from white to olive and is usually a shade lighter than that of other family members. The bleeding diathesis can result in easy bruising, frequent epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and other surgeries. Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early thirties and can progress to death within a decade. Granulomatous colitis is severe in about 15% of affected individuals. Neutropenia and/or immune defects are associated primarily with HPS-2. [from GeneReviews]
Authors:
William A Gahl  |  Marjan Huizing   view full author information

Additional descriptions

From 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 Heterogeneity of Hermansky-Pudlak Syndrome HPS2 (608233) is caused by mutation in the AP3B1 gene (603401) on chromosome 5q14. HPS3 (614072) is caused by mutation in the HSP3 gene (606118) on chromosome 3q24. HPS4 (614073) is caused by mutation in the HSP4 gene (606682) on chromosome 22q12. HPS5 (614074) is caused by mutation in the HPS5 gene (607521) on chromosome 11p14. HPS6 (614075) is caused by mutation in the HPS6 gene (607522) on chromosome 10q24. HPS7 (614076) is caused by mutation in the DTNBP1 gene (607145) on chromosome 6p22. HPS8 (614077) is caused by mutation in the BLOC1S3 gene (609762) on chromosome 19q13. HPS9 (614171) is caused by mutation in the PLDN gene (604310) on chromosome 15q21. HPS10 (617050) is caused by mutation in the AP3D1 gene (607246) on chromosome 19p13.  http://www.omim.org/entry/203300
From GHR
Hermansky-Pudlak syndrome is a disorder characterized by a condition called oculocutaneous albinism, which causes abnormally light coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have fair skin and white or light-colored hair. People with this disorder have a higher than average risk of skin damage and skin cancers caused by long-term sun exposure. Oculocutaneous albinism reduces pigmentation of the colored part of the eye (iris) and the light-sensitive tissue at the back of the eye (retina). Reduced vision, rapid and involuntary eye movements (nystagmus), and increased sensitivity to light (photophobia) are also common in oculocutaneous albinism. In Hermansky-Pudlak syndrome, these vision problems usually remain stable after early childhood.People with Hermansky-Pudlak syndrome also have problems with blood clotting (coagulation) that lead to easy bruising and prolonged bleeding.Some individuals with Hermansky-Pudlak syndrome develop breathing problems due to a lung disease called pulmonary fibrosis, which causes scar tissue to form in the lungs. The symptoms of pulmonary fibrosis usually appear during an individual's early thirties and rapidly worsen. Individuals with Hermansky-Pudlak syndrome who develop pulmonary fibrosis often do not live for more than a decade after they begin to experience breathing problems.Other, less common features of Hermansky-Pudlak syndrome include inflammation of the large intestine (granulomatous colitis) and kidney failure.There are nine different types of Hermansky-Pudlak syndrome, which can be distinguished by their signs and symptoms and underlying genetic cause. Types 1 and 4 are the most severe forms of the disorder. Types 1, 2, and 4 are the only types associated with pulmonary fibrosis. Individuals with type 3, 5, or 6 have the mildest symptoms. Little is known about the signs, symptoms, and severity of types 7, 8, and 9.  https://ghr.nlm.nih.gov/condition/hermansky-pudlak-syndrome

Clinical features

Hematochezia
MedGen UID:
5481
Concept ID:
C0018932
Finding
The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Ocular albinism
MedGen UID:
504729
Concept ID:
CN001040
Finding
An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina.
Hematochezia
MedGen UID:
5481
Concept ID:
C0018932
Finding
The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus.
Bruising susceptibility
MedGen UID:
140849
Concept ID:
C0423798
Finding
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
Cardiomyopathy
MedGen UID:
504883
Concept ID:
CN001491
Finding
A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.
Hematochezia
MedGen UID:
5481
Concept ID:
C0018932
Finding
The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus.
Abdominal pain
MedGen UID:
505060
Concept ID:
CN001834
Finding
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.
Inflammation of the large intestine
MedGen UID:
505065
Concept ID:
CN001842
Finding
Abdominal pain
MedGen UID:
505060
Concept ID:
CN001834
Finding
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.
Hematochezia
MedGen UID:
5481
Concept ID:
C0018932
Finding
The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus.
Bruising susceptibility
MedGen UID:
140849
Concept ID:
C0423798
Finding
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
Pulmonary fibrosis
MedGen UID:
11028
Concept ID:
C0034069
Disease or Syndrome
Pulmonary fibrosis is a condition in which the tissue deep in your lungs becomes scarred over time. This tissue gets thick and stiff. That makes it hard for you to catch your breath, and your blood may not get enough oxygen. Causes of pulmonary fibrosis include environmental pollutants, some medicines, some connective tissue diseases, and interstitial lung disease. Interstitial lung disease is the name for a large group of diseases that inflame or scar the lungs. In most cases, the cause cannot be found. This is called idiopathic pulmonary fibrosis. Symptoms include. -Shortness of breath. -A dry, hacking cough that doesn't get better. -Fatigue. -Weight loss for no known reason. -Aching muscles and joints. -Clubbing, which is the widening and rounding of the tips of the fingers or toes. Your doctor may use your medical history, imaging tests, a biopsy, and lung function tests to diagnose pulmonary fibrosis. There is no cure. Treatments can help with symptoms and improve your quality of life. They include medicines, oxygen therapy, pulmonary rehabilitation, or a lung transplant. NIH: National Heart, Lung, and Blood Institute.
Restrictive lung disease
MedGen UID:
43209
Concept ID:
C0085581
Disease or Syndrome
A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus.
Hematochezia
MedGen UID:
5481
Concept ID:
C0018932
Finding
The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus.
Abdominal pain
MedGen UID:
505060
Concept ID:
CN001834
Finding
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.
Inflammation of the large intestine
MedGen UID:
505065
Concept ID:
CN001842
Finding
Inflammation of the large intestine
MedGen UID:
505065
Concept ID:
CN001842
Finding
Epistaxis
MedGen UID:
776578
Concept ID:
C2228238
Finding
Melanocytic nevus
MedGen UID:
14364
Concept ID:
C0027962
Neoplastic Process
A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger.
Abnormality of the hair
MedGen UID:
56381
Concept ID:
C0157733
Finding
An abnormality of the hair.
Bruising susceptibility
MedGen UID:
140849
Concept ID:
C0423798
Finding
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
Freckles in sun-exposed areas
MedGen UID:
348494
Concept ID:
C1859923
Finding
Albinism
MedGen UID:
504689
Concept ID:
CN000958
Finding
An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina).

Recent clinical studies

Etiology

Wei AH, Zang DJ, Zhang Z, Yang XM, Li W
J Genet Genomics 2015 Jun 20;42(6):279-86. Epub 2015 May 29 doi: 10.1016/j.jgg.2015.05.001. PMID: 26165494

Clinical prediction guides

Ni-Komatsu L, Orlow SJ
J Invest Dermatol 2008 May;128(5):1236-47. Epub 2007 Nov 15 doi: 10.1038/sj.jid.5701163. PMID: 18007583

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