Hermansky-Pudlak syndrome 9
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Wendy J Introne
- Marjan Huizing
- May Christine V Malicdan
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (63 available)
Clinical features
Help- Abnormality of blood and blood-forming tissues
- Abnormal platelet aggregation
Abnormal platelet aggregation
- MedGen UID: 154224
- Concept ID: C0541767
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Thrombocytopenia
Thrombocytopenia
- MedGen UID: 52737
- Concept ID: C0040034
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Abnormal platelet aggregation
- Abnormality of the eye
- Hypopigmentation of the fundus
Hypopigmentation of the fundus
- MedGen UID: 101805
- Concept ID: C0151891
- Finding: Disease or Syndrome
Abnormality of the eye
- Nystagmus
Nystagmus
- MedGen UID: 45166
- Concept ID: C0028738
- Finding: Disease or Syndrome
Abnormality of the eye
- Ocular albinism
Ocular albinism
- MedGen UID: 38147
- Concept ID: C0078917
- Finding: Congenital Abnormality
Abnormality of the eye
- Hypopigmentation of the fundus
- Abnormality of the immune system
- Leukopenia
Leukopenia
- MedGen UID: 6073
- Concept ID: C0023530
- Finding: Disease or Syndrome
Abnormality of the immune system
- Recurrent skin infections
Recurrent skin infections
- MedGen UID: 377848
- Concept ID: C1853193
- Finding: Disease or Syndrome
Abnormality of the immune system
- Leukopenia
- Abnormality of the integument
- Hypopigmentation of the skin
Hypopigmentation of the skin
- MedGen UID: 102477
- Concept ID: C0162835
- Finding: Disease or Syndrome
Abnormality of the integument
- Hypopigmentation of the skin
- Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Global developmental delay
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