Hermansky-pudlak syndrome 1

Preferred Label : Hermansky-pudlak syndrome 1;

Symbol : HPS1;

CISMeF acronym : HPS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Delta storage pool disease; Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells;

Description : 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 Hermansky-Pudlak syndrome can also be caused by homozygous or compound heterozygous mutations in several other genes. HPS2 (608233), which includes immunodeficiency in its phenotype, is caused by mutation in the AP3B1 gene (603401) on chromosome 5q14.1. HPS3 (614072) is caused by mutation in a gene on chromosome 3q24 (606118); HPS4 (614073) is caused by mutation in a gene on chromosome 22q11.2-q12 (606682); HPS5 (614074) is caused by mutation in a gene on chromosome 11p14 (607521); HPS6 (614075) is caused by mutation in a gene on chromosome 10q24 (607522); 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 19q13.32; and HPS9 (614171) is caused by mutation in the PLDN gene (604310) on chromosome 15q21.1.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 gene (HPS1, 203300);

Laboratory abnormalities : Hair bulb tyrosinase present;

Prefixed ID : #203300;

Details

Origin ID

203300;

UMLS CUI

C2931875;

Currated CISMeF NLP mapping
- HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 [ORDO Gene]
- Hermanski-Pudlak syndrome [MeSH concept]
- Hermansky Pudlak syndrome [Disease (Nov.)]
- Hermansky-Pudlak Syndrome [NCIt concept]
- Hermansky-Pudlak Syndrome 1 [NCIt concept]
- Hermansky-Pudlak syndrome [ICD-11 More detail]
- Hermansky-Pudlak syndrome [DO Concept]
- Hermansky-Pudlak syndrome [ORDO Disease]
- Hermansky-Pudlak syndrome [MedDRA Preferred Term]
- Hermansky-Pudlak syndrome (disorder) [SNOMED CT concept]
- Hermansky-Pudlak syndrome 1 [DO Concept]
- hermanski-pudlak syndrome [MeSH Descriptor]
- hermansky-pudlak syndrome [SNOMED Notion]
DO Cross reference
- Hermansky-Pudlak syndrome 1 [DO Concept]
Genes related to phenotype
- Hps1 biogenesis of lysosomal organelles complex 3, subunit 1 [OMIM gene]
HPO term(s)
- Abdominal pain [HPO term]
- Albinism [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blindness [HPO term]
- Bloody diarrhea [HPO term]
- Bruising susceptibility [HPO term]
- Cardiomyopathy [HPO term]
- Colitis [HPO term]
- Ecchymosis [HPO term]
- Epistaxis [HPO term]
- Freckles in sun-exposed areas [HPO term]
- Freckling [HPO term]
- Gingival bleeding [HPO term]
- Hematochezia [HPO term]
- Hypopigmentation of hair [HPO term]
- Hypopigmentation of the skin [HPO term]
- Inflammation of the large intestine [HPO term]
- Interstitial fibrosis [HPO term]
- Lifelong reduced visual acuity, legal blindness to low vision [HPO term]
- Melanocytic nevus [HPO term]
- Nystagmus [HPO term]
- Ocular albinism [HPO term]
- Photophobia [HPO term]
- Prolonged bleeding time [HPO term]
- Pulmonary fibrosis [HPO term]
- Renal insufficiency [HPO term]
- Restrictive ventilatory defect [HPO term]
- Severely reduced visual acuity [HPO term]
ORDO concept(s)
- Hermansky-Pudlak syndrome [ORDO Disease]
- Hermansky-Pudlak syndrome due to BLOC-3 deficiency [ORDO Disease]
See also inter- (CISMeF)
- Hermansky Pudlak syndrome [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MeSH concept]
- Delta storage pool disease [MedDRA LLT]
- Hermansky-Pudlak Syndrome 1 [NCIt concept]
- Hermansky-Pudlak syndrome 1 [DO Concept]
- albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MeSH Supplementary Concept]

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