Attenuated ChÉdiak-higashi Syndrome

Description

Attenuated Chédiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS (see this term), a genetic disorder characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.

Clinical Features

Top most frequent phenotypes and symptoms related to Attenuated ChÉdiak-higashi Syndrome

  • Intellectual disability
  • Peripheral neuropathy
  • Hypertonia
  • Immunodeficiency
  • Recurrent respiratory infections
  • Abnormality of movement
  • Bruising susceptibility
  • Abnormality of extrapyramidal motor function
  • Epistaxis
  • Skin ulcer

And another 5 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

Attenuated ChÉdiak-higashi Syndrome Is also known as atypical chÉdiak-higashi syndrome.

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.


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Attenuated ChÉdiak-higashi Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
Chediak-Higashi Syndrome - LYST Sequencing.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).

LYST
Specificity
100 %
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 %
Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

RMRP, RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7, BRCA2, SRP72, TAZ, TERC, TERT, TINF2, WAS, WIPF1 , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
100 %
LYST Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

LYST
Specificity
100 %
Genes
100 %
Hemophagocytic Lymphohistiocytosis Panel by next generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

SH2D1A, SLC7A7, STX11, STXBP2, CD27, LYST, UNC13D, MAGT1, GATA2, AP3B1, XIAP, ITK, BLOC1S6, PRF1, RAB27A
Specificity
7 %
Genes
100 %
Inherited Neutropenia panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

TAZ, WAS, WIPF1, VPS45, HAX1, SBDS, LYST, VPS13B, CSF3R, G6PC3, CXCR4, USB1, LAMTOR2, ELANE, SLC37A4, GATA1, GATA2, GFI1, AP3B1, RAB27A , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Bone Marrow Failure Syndromes Deletion/Duplication Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

RMRP, RPL11, RPL26, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, BRCA2, SRP72, TAZ, TERC, TERT, TINF2, WAS, WIPF1, NHP2, NOP10 , (...)

View the complete list with 36 more genes
Specificity
2 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

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