Hermansky-pudlak Syndrome Type 7

Clinical Features

Top most frequent phenotypes and symptoms related to Hermansky-pudlak Syndrome Type 7

  • Ataxia
  • Nystagmus
  • Muscle weakness
  • Respiratory distress
  • Reduced visual acuity
  • Astigmatism
  • Bruising susceptibility
  • Hypopigmentation of the skin
  • Abnormal bleeding
  • Epistaxis

And another 12 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.

Alternative names

Hermansky-pudlak Syndrome Type 7 Is also known as hps7.

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 Type 7 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
Ocular Albinism and Hermansky Pudlak Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

TYR, TYRP1, HPS3, HPS4, SLC45A2, HPS5, DTNBP1, HPS6, LYST, GPR143, SLC24A5, BLOC1S3, LRMDA, AP3B1, MC1R, OCA2, BLOC1S6
Specificity
6 %
Genes
100 %
Comprehensive Pulmonary Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RPGR, SCNN1A, SCNN1B, SCNN1G, BMPR1B, BMPR2, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SLC7A7, SPAG1, STAT3, TERC, TERT, TINF2, NKX2-1, TSC1, TSC2 , (...)

View the complete list with 73 more genes
Specificity
2 %
Genes
100 %
Hermansky-Pudlak and Pulmonary Fibrosis Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, TERC, TERT, TINF2, NKX2-1, HPS3, HPS4, RTEL1, HPS5, DTNBP1, HPS6, BLOC1S3, CSF2RA, ELMOD2, DKC1, ABCA3 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Platelet Disorders.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RUNX1, STIM1, TBXA2R, TBXAS1, USF1, VPS33B, VWF, WAS, GP6, HPS3, HPS4, CD36, HPS5, DTNBP1, P2RY12, HPS6, MASTL, LYST, VIPAS39, FERMT3 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Albinism sequencing panel.

By Genetic Services Laboratory University of Chicago (United States).

TYR, TYRP1, HPS3, HPS4, SLC45A2, HPS5, DTNBP1, HPS6, LYST, GPR143, SLC24A5, BLOC1S3, LRMDA, MLPH, HPS1, AP3B1, MYO5A, OCA2, BLOC1S6, RAB27A
Specificity
5 %
Genes
100 %
Albinism Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

TYR, TYRP1, HPS3, HPS4, SLC45A2, HPS5, DTNBP1, HPS6, LYST, GPR143, SLC24A5, BLOC1S3, LRMDA, MLPH, HPS1, AP3B1, MYO5A, OCA2, BLOC1S6, RAB27A
Specificity
5 %
Genes
100 %
Hermansky-Pudlak Syndrome Panel (9 Genes).

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine (United States).

HPS3, HPS4, HPS5, DTNBP1, HPS6, BLOC1S3, HPS1, AP3B1, BLOC1S6
Specificity
12 %
Genes
100 %

You can get up to 39 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Symptoms Checker

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