Hermansky-Pudlak syndrome type 9

General Information (adopted from Orphanet):

Synonyms, Signs: HPS9
Number of Symptoms 10
OrphanetNr: 280663
OMIM Id: 614171
ICD-10: E70.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Hermansky-Pudlak syndrome
 -Rare eye disease
 -Rare genetic disease
 -Rare hematologic disease
 -Rare skin disease

Comment:

Hermansky-Pudlak syndrome type 9 (HPS9) is a sub-type of Hermansky-Pudlak syndrome and presents typically without bleeding manifestations (PMID:25117010).

Symptom Information: Sort by abundance 

1
(HPO:0011869) Abnormal platelet function 12 / 7739
2
(HPO:0000639) Nystagmus 555 / 7739
3
(HPO:0006934) Congenital nystagmus 10 / 7739
4
(HPO:0007894) Hypopigmentation of the fundus 14 / 7739
5
(HPO:0001010) Hypopigmentation of the skin 46 / 7739
6
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
7
(OMIM) Absent platelet delta granules 1 / 7739
8
(OMIM) Reduced pigment relative to ethnic background 1 / 7739
9
(OMIM) Iris transillumination 3 / 7739
10
(OMIM) Blond, silvery hair 2 / 7739

Associated genes:

BLOC1S6;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Cullinane et al. (2011) studied a 9-month-old boy of Indian ancestry who was born with generalized hypopigmentation and respiratory distress requiring 3 weeks of respiratory support. Examination at 3 months of age showed nystagmus, iris transillumination, and retinal ...
Molecular genetics OMIM In 38 patients with HPS-like symptoms but no mutations in the genes associated with HPS1-HPS6 (see 203300), Cullinane et al. (2011) sequenced the exonic regions of all 8 BLOC-1 (see 601444) subunit-encoding genes and identified homozygosity for a ...