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ErkrankungHermansky-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-/Basis-Gene)
51,8 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
AP3B13138AR
AP3D13648AR
BLOC1S3609AR
BLOC1S5372AR
BLOC1S6519AR
DTNBP1813AR
HPS12103AR
HPS33015AR
HPS42127AR
HPS53048AR
HPS62328AR
GPR1431215XL
LRMDA597AR
LYST11406AR
MLPH1719AR
MYO5A5568AR
OCA22517AR und/oder Dig
RAB27A666AR
SLC24A51503AR
SLC45A21593AR und/oder Dig
TYR1590AD und/oder AR und/oder Dig
TYRP11614AR

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.
  • AD und/oder AR und/oder Dig
  • AR
  • AR und/oder Dig
  • XL
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q89.7

Bioinformatik und klinische Interpretation

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