English
Klinische FragestellungHermansky-Pudlak-Syndrom, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Hermansky-Pudlak-Syndrom mit 11 bzw. 22 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
HP0990
Anzahl Gene
22
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
21,8 kb (Core-/Core-canditate-Gene)
51,8 kb (Erweitertes Panel: inkl. additional genes)
51,8 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
| Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
|---|---|---|---|---|
| AP3B1 | 3138 | NM_001271769.2 | AR | |
| AP3D1 | 3648 | NM_001261826.3 | AR | |
| BLOC1S3 | 609 | NM_212550.5 | AR | |
| BLOC1S5 | 372 | NM_001199322.1 | AR | |
| BLOC1S6 | 519 | NM_012388.4 | AR | |
| DTNBP1 | 813 | NM_001271667.2 | AR | |
| HPS1 | 2103 | NM_000195.5 | AR | |
| HPS3 | 3015 | NM_032383.5 | AR | |
| HPS4 | 2127 | NM_022081.6 | AR | |
| HPS5 | 3048 | NM_007216.4 | AR | |
| HPS6 | 2328 | NM_024747.6 | AR | |
| GPR143 | 1215 | NM_000273.3 | XL | |
| LRMDA | 597 | NM_032024.5 | AR | |
| LYST | 11406 | NM_000081.4 | AR | |
| MLPH | 1719 | NM_001042467.3 | AR | |
| MYO5A | 5568 | NM_000259.3 | AR | |
| OCA2 | 2517 | NM_000275.3 | AR | |
| RAB27A | 666 | NM_004580.5 | AR | |
| SLC24A5 | 1503 | NM_205850.3 | AR | |
| SLC45A2 | 1593 | NM_016180.5 | AR | |
| TYR | 1590 | NM_000372.5 | AR | |
| TYRP1 | 1614 | NM_000550.3 | AR |
Infos zur Erkrankung
Klinischer Kommentar
Multisystemerkrankung mit okulokutanem Albinismus, Blutungsdiathese, Neutropenie, Lungenfibrose oder granulomatöser Kolitis; HPS-1 bis -8
Synonyme
- 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)
Erbgänge, Vererbungsmuster etc.
- AR
- XL
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q89.7
Bioinformatik und klinische Interpretation
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