Hermansky-pudlak syndrome 10

Preferred Label : Hermansky-pudlak syndrome 10;

Symbol : HPS10;

CISMeF acronym : HPS10;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the adaptor-related protein complex 3, delta-1 subunit gene (AP3D1, 607246.0001);

Prefixed ID : #617050;

Details

Origin ID

617050;

UMLS CUI

C4310746;

Automatic exact mappings (from CISMeF team)
- AP3D1 wt Allele [NCIt concept]
False automatic mappings
- HPS 10 [MeSH Supplementary Concept]
Genes related to phenotype
- Adaptor-related protein complex 3, delta-1 subunit [OMIM gene]
HPO term(s)
- Abnormal pulmonary interstitial morphology [HPO term]
- Albinism [HPO term]
- Apnea [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Cerebral atrophy [HPO term]
- Delayed CNS myelination [HPO term]
- Dystonia [HPO term]
- EEG abnormality [HPO term]
- Feeding difficulties [HPO term]
- Focal myoclonic seizure [HPO term]
- Generalized hypotonia [HPO term]
- Hepatomegaly [HPO term]
- Hypotelorism [HPO term]
- Immunodeficiency [HPO term]
- Low-set ears [HPO term]
- Macrotia [HPO term]
- Microcephaly [HPO term]
- Neutropenia [HPO term]
- Nystagmus [HPO term]
- Ocular albinism [HPO term]
- Poor head control [HPO term]
- Recurrent respiratory infections [HPO term]
- Retrognathia [HPO term]
- Severe global developmental delay [HPO term]
- Smooth philtrum [HPO term]
- Splenomegaly [HPO term]
ORDO concept(s)
- Hermansky-Pudlak syndrome [ORDO Disease]
- Hermansky-Pudlak syndrome due to AP-3 deficiency [ORDO Disease]
See also inter- (CISMeF)
- Hermansky-Pudlak syndrome due to AP-3 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Hermansky-Pudlak syndrome [ORDO Disease]

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