Hermansky-pudlak syndrome 2

Preferred Label : Hermansky-pudlak syndrome 2;

Symbol : HPS2;

CISMeF acronym : HPS2;

Type : Phenotype, molecular basis known;

Description : Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disease characterized by platelet defects and oculocutaneous albinism. HPS2 differs from the other forms of HPS in that it includes immunodeficiency in its phenotype, and patients with HPS2 have an increased susceptibility to infections due to congenital neutropenia (Jung et al., 2006).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the adaptor-related protein complex 3, beta-1 subunit gene (AP3B1, 603401.0001);

Prefixed ID : #608233;

Details

Origin ID

608233;

UMLS CUI

C1842362;

Automatic exact mappings (from CISMeF team)
- TFF1 wt Allele [NCIt concept]
- adaptor related protein complex 3 subunit beta 1 [ORDO Gene]
- adaptor related protein complex 3 subunit beta 1 [HGNC gene]
- trefoil factor 1 [HGNC gene]
Currated CISMeF NLP mapping
- Hermansky Pudlak syndrome 2 [MeSH concept]
- Hermansky-Pudlak Syndrome 2 [NCIt concept]
- Hermansky-Pudlak syndrome 2 [DO Concept]
- Hermansky-Pudlak syndrome due to AP-3 deficiency [ORDO Disease]
- Hermansky-Pudlak syndrome with neutropaenia [ICD-11 More detail]
- hermansky pudlak syndrome 2 [MeSH Supplementary Concept]
DO Cross reference
- Hermansky-Pudlak syndrome 2 [DO Concept]
Genes related to phenotype
- Adaptor-related protein complex 3, beta-1 subunit [OMIM gene]
HPO term(s)
- Aberrant melanosome maturation [HPO term]
- Absent platelet dense granules [HPO term]
- Acetabular dysplasia [HPO term]
- Albinism [HPO term]
- Autosomal recessive inheritance [HPO term]
- Broad nasal root [HPO term]
- Carious teeth [HPO term]
- Chronic oral candidiasis [HPO term]
- Coarse facial features [HPO term]
- Congenital onset [HPO term]
- Decreased CD4:CD8 ratio [HPO term]
- Enlarged platelet dense granules [HPO term]
- Epicanthus [HPO term]
- Fair hair [HPO term]
- Fair hair [HPO term]
- Gastroesophageal reflux [HPO term]
- Generalized hypopigmentation [HPO term]
- Hepatomegaly [HPO term]
- Hepatosplenomegaly [HPO term]
- Horizontal nystagmus [HPO term]
- Impaired ADP-induced platelet aggregation [HPO term]
- Intellectual disability, mild [HPO term]
- Long philtrum [HPO term]
- Long, flat philtrum [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Mild global developmental delay [HPO term]
- Motor delay [HPO term]
- Neutropenia [HPO term]
- Nystagmus [HPO term]
- Ocular albinism [HPO term]
- Ocular albinism, tyrosinase-positive [HPO term]
- Periodontitis [HPO term]
- Photophobia [HPO term]
- Posteriorly rotated ears [HPO term]
- Prolonged bleeding time [HPO term]
- Pulmonary fibrosis [HPO term]
- Pulmonary fibrosis due to recurrent infections [HPO term]
- Recurrent abscess formation [HPO term]
- Recurrent bacterial infections [HPO term]
- Recurrent otitis media [HPO term]
- Recurrent pneumonia [HPO term]
- Reduced natural killer cell activity [HPO term]
- Reduced natural killer cell count [HPO term]
- Reduced visual acuity [HPO term]
- Smooth philtrum [HPO term]
- Splenomegaly [HPO term]
- Strabismus [HPO term]
- Thin upper lip vermilion [HPO term]
- Thrombocytopenia [HPO term]
- Upslanted palpebral fissure [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Hermansky-Pudlak syndrome [ORDO Disease]
- Hermansky-Pudlak syndrome due to AP-3 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hermansky Pudlak syndrome 2 [MeSH concept]
- Hermansky-Pudlak Syndrome 2 [NCIt concept]
- Hermansky-Pudlak syndrome 2 [DO Concept]
- Hermansky-Pudlak syndrome due to AP-3 deficiency [ORDO Disease]
- Hermansky-Pudlak syndrome with neutropaenia [ICD-11 More detail]
- hermansky pudlak syndrome 2 [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Hermansky-Pudlak syndrome [ORDO Disease]

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