Reticular Dysgenesis

Description

Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID; see this term) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated.

Clinical Features

Top most frequent phenotypes and symptoms related to Reticular Dysgenesis

  • Hearing impairment
  • Failure to thrive
  • Anemia
  • Fever
  • Diarrhea
  • Immunodeficiency
  • Recurrent respiratory infections
  • Weight loss
  • Skin rash
  • Malabsorption

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

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Incidence and onset information

— Based on the latest data available RETICULAR DYSGENESIS have a estimated incidence of 0.03 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Reticular Dysgenesis Is also known as congenital aleukia, scid with leukopenia, de vaal disease, hematopoietic hypoplasia, generalized, reticular dysgenesia, congenital aleukocytosis, severe combined immunodeficiency with leukopenia, ak2 deficiency, aleukocytosis, generalized hematopoietic hypoplasia.

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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Reticular Dysgenesis Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®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 %
AK2 Sequencing.

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

AK2
Specificity
100 %
Genes
100 %
AK2 Deletion/duplication analysis.

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

AK2
Specificity
100 %
Genes
100 %
AK2. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

AK2
Specificity
100 %
Genes
100 %
Reticular dysgenesis (sequence analysis of AK2 gene).

By CGC Genetics (Portugal).

AK2
Specificity
100 %
Genes
100 %
Severe combined immunodeficiency (SCID) panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands).

STAT5B, STIM1, TBX1, CD40, CD40LG, ZAP70, CD3D, CD3E, CD3G, CD8A, DCLRE1C, ADA, DOCK8, CORO1A, NHEJ1, ORAI1, AK2, IL2RA, IL2RG, IL7R , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Comprehensive SCID panel.

By Centogene AG - the Rare Disease Company (Germany).

RMRP, STAT5B, STIM1, TBX1, FOXN1, ZAP70, CD3D, CD3E, CD247, DCLRE1C, ADA, NHEJ1, ORAI1, AK2, IL2RG, IL7R, JAK3, LIG4, PNP, PTPRC , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Comprehensive mitochondrial disorders panel.

By Centogene AG - the Rare Disease Company (Germany).

RNASEL, BCS1L, MRPL3, SARDH, SCO1, SCO2, SCP2, SDHA, SDHB, SDHC, SDHD, SLC25A12, SLC25A13, SLC25A15, SLC25A3, SLC25A4, SLC9A6, SOD2, SPG7, STAR , (...)

View the complete list with 156 more genes
Specificity
1 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Search Engine

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