Omenn Syndrome

Description

Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term).

Clinical Features

Top most frequent phenotypes and symptoms related to Omenn Syndrome

  • Failure to thrive
  • Anemia
  • Hepatomegaly
  • Fever
  • Edema
  • Diarrhea
  • Splenomegaly
  • Immunodeficiency
  • Thrombocytopenia
  • Pneumonia

And another 44 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

Omenn Syndrome Is also known as combined immunodeficiency with hypereosinophilia, reticuloendotheliosis, familial, with eosinophilia, severe combined immunodeficiency with hypereosinophilia.

Researches and researchers

Doctors, researchs, and experts related to Omenn Syndrome extracted from public data.

Omenn Syndrome Experts map



Current Researchs and researchers

  • MILANO — Dr Anna VILLA

    Responsible for diagnostic tests - Investigator of research project

    • Institution/s:
      — Istituto San Raffaele Telethon per la Terapia Genica - TIGET
      — CNR Istituto Tecnologie Biomediche
    • Research area/topic::

      Genetic and biology of Omenn Syndrome


  • SEGRATE — Dr Anna VILLA

    Responsible for diagnostic tests - Investigator of research project

    • Institution/s:
      — Istituto San Raffaele Telethon per la Terapia Genica - TIGET
      — CNR Istituto Tecnologie Biomediche
    • Research area/topic::

      Genetic and biology of Omenn Syndrome



Mendelian

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Omenn Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
RMRP Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RMRP
Specificity
100 %
Genes
12 %
RMRP Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories (United States).

RMRP
Specificity
100 %
Genes
12 %
RMRP Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

RMRP
Specificity
100 %
Genes
12 %
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)

View the complete list with 139 more genes
Specificity
3 %
Genes
45 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1 , (...)

View the complete list with 129 more genes
Specificity
3 %
Genes
34 %
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
12 %
Severe Combined Immunodeficiency and T Cell Disorders 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, STAT5B, STIM1, TBX1, FOXN1, ZAP70, CD3D, CD3E, DCLRE1C, ADA, NHEJ1, ORAI1, IL2RG, IL7R, JAK3, LIG4, PNP, PTPRC, RAG1, RAG2
Specificity
40 %
Genes
89 %
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
12 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Genetic Syndrome Finder

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