Hermansky-pudlak Syndrome 10; Hps10

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Hermansky-Pudlak syndrome-10 is an autosomal recessive multisystem disorder characterized by infantile onset of immunodeficiency, oculocutaneous albinism, and severe neurologic impairment, including severely delayed global development and intractable seizures (summary by Ammann et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of Hermansky-Pudlak syndrome, see HPS1 (OMIM ).

Genes related to Hermansky-pudlak Syndrome 10; Hps10

AP3D1

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Clinical Features

Top most frequent phenotypes and symptoms related to Hermansky-pudlak Syndrome 10; Hps10

Seizures
Generalized hypotonia
Microcephaly
Nystagmus
Low-set ears
Feeding difficulties
Hepatomegaly
Dystonia
Splenomegaly
Immunodeficiency

And another 22 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Hermansky-pudlak Syndrome 10; Hps10 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hypopigmentation Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SNAI2, SOX10, TYR, TYRP1, HPS3, HPS4, SLC45A2, HPS5, DTNBP1, HPS6, LYST, GPR143, SLC24A5, BLOC1S3, LRMDA, MLPH, EDN3, EDNRB, SLC38A8, HPS1 , (...) View the complete list with 10 more genes Panel complete gene list SNAI2, SOX10, TYR, TYRP1, HPS3, HPS4, SLC45A2, HPS5, DTNBP1, HPS6, LYST, GPR143, SLC24A5, BLOC1S3, LRMDA, MLPH, EDN3, EDNRB, SLC38A8, HPS1, AP3B1, AP3D1, KITLG, MC1R, MITF, MYO5A, OCA2, BLOC1S6, PAX3, RAB27A Specificity 4 % Genes 100 %
AP3D1. By Fulgent Genetics Fulgent Genetics (United States). AP3D1 Specificity 100 % Genes 100 %
Comprehensive Hematology Panel. By Blueprint Genetics (Finland). RHAG, RIT1, RPL11, RPL15, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS29, RPS7, RUNX1, BLM, SEC23B, SFTPB, SFTPC, SH2D1A, SLC19A2, BRAF , (...) View the complete list with 218 more genes Panel complete gene list RHAG, RIT1, RPL11, RPL15, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS29, RPS7, RUNX1, BLM, SEC23B, SFTPB, SFTPC, SH2D1A, SLC19A2, BRAF, BRCA1, BRCA2, SMARCD2, SOS1, SPTA1, SPTB, SRC, SRP72, STX11, STXBP2, EPCAM, TBXA2R, TCN2, TERC, TERT, TF, THBD, THPO, TINF2, FAS, FASLG, TP53, TPI1, EGLN1, TYR, TYRP1, VWF, WAS, WIPF1, WDR1, XRCC2, IKZF1, ACTB, SAMD9, SAMD9L, ADAMTS13, ABCG5, ABCG8, MRTFA, NHP2, NOP10, LPIN2, VPS45, AMN, CBL, PUS1, HPS3, HPS4, RTEL1, TUBB1, ACTN1, SLC45A2, TMPRSS6, HAX1, HPS5, CDAN1, DTNBP1, TRNT1, DCLRE1B, NT5C3A, CDKN2A, P2RY12, CEBPA, MCFD2, DDX41, HPS6, MASTL, SBDS, LYST, CYCS, GPR143, CLCN7, BRIP1, FANCL, BLOC1S3, PDHX, VPS13B, UNC13D, FANCM, VKORC1, SLX4, YARS2, CSF2RA, CSF3R, G6PC3, ACD, CTSC, CUBN, WRAP53, FANCI, CXCR4, USB1, SLC25A38, PALB2, CTC1, RNF168, ERCC6L2, JAGN1, C15orf41, DNAJC21, DHFR, CYB5R3, MAGT1, DKC1, GINS1, PIEZO1, ANKRD26, LAMTOR2, SLC46A1, CLPB, NBEAL2, SLFN14, ABCA3, ELANE, EPAS1, EPB41, EPB42, EPOR, ERCC4, ETV6, MECOM, F10, F11, F12, F13A1, F13B, F2, F5, F7, F8, F9, FADD, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, AK2, FGA, FGB, FGG, FLI1, FLNA, ALAS2, FYB1, G6PD, SLC37A4, GATA1, GATA2, GFI1, GFI1B, GGCX, GP1BA, GP1BB, GP9, GPI, GSS, ABCB7, HBA1, HBA2, HBB, HFE, ANK1, HOXA11, HPS1, HRAS, IFNGR2, AP3B1, AP3D1, XIAP, ITGA2, ITGA2B, ITGB3, ITK, JAK2, KLF1, KRAS, LMAN1, MAP2K1, MAP2K2, ARPC1B, MLH1, MPL, MSH2, MSH6, MTHFD1, MTR, MYH9, MYO5A, NBN, SERPINC1, NF1, ATM, NRAS, OCA2, BLOC1S6, PARN, PAX5, PC, PDHA1, ATR, ATRX, PGM3, PKLR, PMS2, PRF1, PRKACG, PROC, PROS1, PTPN11, RAB27A, RAC2, RAD51C, RBM8A, RECQL4, REN Specificity 1 % Genes 100 %
Hermansky-Pudlak Syndrome Panel. By Blueprint Genetics (Finland). SFTPB, SFTPC, TERC, TERT, TINF2, TYR, TYRP1, HPS3, HPS4, SLC45A2, HPS5, DTNBP1, HPS6, LYST, GPR143, BLOC1S3, DKC1, ABCA3, HPS1, AP3B1 , (...) View the complete list with 3 more genes Panel complete gene list SFTPB, SFTPC, TERC, TERT, TINF2, TYR, TYRP1, HPS3, HPS4, SLC45A2, HPS5, DTNBP1, HPS6, LYST, GPR143, BLOC1S3, DKC1, ABCA3, HPS1, AP3B1, AP3D1, OCA2, BLOC1S6 Specificity 5 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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