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IllnessHermansky-Pudlak syndrome, differential diagnosis

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Summary

Short information

Comprehensive differential diagnostic panel for Hermansky-Pudlak syndrome comprising 11 or 22 curated genes according to the clinical signs

ID
HP0990
Number of genes
22 Accredited laboratory test
Examined sequence length
21,8 kb (Core-/Core-canditate-Genes)
51,8 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
AP3B13138NM_001271769.2AR
AP3D13648NM_001261826.3AR
BLOC1S3609NM_212550.5AR
BLOC1S5372NM_001199322.1AR
BLOC1S6519NM_012388.4AR
DTNBP1813NM_001271667.2AR
HPS12103NM_000195.5AR
HPS33015NM_032383.5AR
HPS42127NM_022081.6AR
HPS53048NM_007216.4AR
HPS62328NM_024747.6AR
GPR1431215NM_000273.3XL
LRMDA597NM_032024.5AR
LYST11406NM_000081.4AR
MLPH1719NM_001042467.3AR
MYO5A5568NM_000259.3AR
OCA22517NM_000275.3AR
RAB27A666NM_004580.5AR
SLC24A51503NM_205850.3AR
SLC45A21593NM_016180.5AR
TYR1590NM_000372.5AR
TYRP11614NM_000550.3AR

Informations about the disease

Clinical Comment

Multi-system disorder with oculocutaneous albinism, bleeding diathesis, neutropenia, pulmonary fibrosis, or granulomatous colitis; HPS-1 to -8

 

Synonyms
  • Alias: Albinism with hemorrhagic diathesis + pigmented reticuloendothelial cells
  • Alias: Delta storage pool disease
  • Allelic: Melanoma, cutaneous malignant, susceptibility to, 8 (TYR)
  • Allelic: Nystagmus 6, congenital, XL (GPR143)
  • Allelic: Skin/hair/eye pigmentation 1, blond/brown hair (OCA2)
  • Allelic: Skin/hair/eye pigmentation 1, blue/nonblue eyes (OCA2)
  • Allelic: Skin/hair/eye pigmentation 3, blue/green eyes (TYR)
  • Allelic: Skin/hair/eye pigmentation 3, light/dark/freckling skin (TYR)
  • Allelic: Skin/hair/eye pigmentation 4, fair/dark skin (SLC24A5)
  • Allelic: Skin/hair/eye pigmentation 5, black/nonblack hair (SLC45A2)
  • Allelic: Skin/hair/eye pigmentation 5, dark/fair skin (SLC45A2)
  • Allelic: Skin/hair/eye pigmentation 5, dark/light eyes (SLC45A2)
  • Allelic: Skin/hair/eye pigmentation, variation in, 11; Melanesian blond hair (TYRP1)
  • Albinism, brown oculocutaneous (OCA2)
  • Albinism, oculocutaneous, type IA (TYR)
  • Albinism, oculocutaneous, type IB (TYR)
  • Albinism, oculocutaneous, type II (OCA2)
  • Albinism, oculocutaneous, type III (TYRP1)
  • Albinism, oculocutaneous, type IV (SLC45A2)
  • Albinism, oculocutaneous, type VI (SLC24A5)
  • Albinism, oculocutaneous, type VII (LRMDA)
  • Chediak-Higashi syndrome (LYST)
  • Griscelli syndrome, type 1 (MYO5A)
  • Griscelli syndrome, type 2 (RAB27A)
  • Griscelli syndrome, type 3 (MLPH)
  • Hermansky-Pudlak syndrome 1 (HPS1)
  • Hermansky-Pudlak syndrome 10 (AP3D1)
  • Hermansky-Pudlak syndrome 11 (BLOC1S5)
  • Hermansky-Pudlak syndrome 2 (AP3B1)
  • Hermansky-Pudlak syndrome 3 (HPS3)
  • Hermansky-Pudlak syndrome 4 (HPS4)
  • Hermansky-Pudlak syndrome 5 (HPS5)
  • Hermansky-Pudlak syndrome 6 (HPS6)
  • Hermansky-Pudlak syndrome 7 (DTNBP1)
  • Hermansky-Pudlak syndrome 8 (BLOC1S3)
  • Hermansky-Pudlak syndrome [MONDO:0019312] (BLOC1S5)
  • Hermansky-pudlak syndrome 9 (BLOC1S6)
  • Ocular albinism, type I, Nettleship-Falls type (GPR143)
  • Waardenburg syndrome/albinism, digenic (TYR)
Heredity, heredity patterns etc.
  • AR
  • XL
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined