Majeed Syndrome

Incidence and onset information

Alternative names

Majeed Syndrome Is also known as chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome.

Researches and researchers

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

Majeed Syndrome Experts map

Current Researchs and researchers

• MONTPELLIER — Pr Isabelle TOUITOU

  Coordinator of expert centre - Clinical expert - Responsible for diagnostic tests - Investigator of research project - Manager of registry - Coordinator of research network - Director of laboratory
  
  

  • Institution/s:
    — Département Génétique Médicale, Maladies rares et médecine personnalisée, CHRU de Montpellier - Hôpital Arnaud de Villeneuve
    — Institut de Médecine Régénérative et Biothérapies, CHU de Montpellier - Hôpital Saint-Eloi
  • Research area/topic::
    

    International society of systemic autoinflammatory disorders

Majeed Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hemolytic Anemia 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). RHAG, SEC23B, SLC2A1, SPTA1, SPTB, TPI1, XK, ATP11C, ABCG5, ABCG8, LPIN2, CDAN1, NT5C3A, COL4A1, C15orf41, PIEZO1, EPB41, EPB42, AK1, ALAS2 , (...) View the complete list with 16 more genes Panel complete gene list RHAG, SEC23B, SLC2A1, SPTA1, SPTB, TPI1, XK, ATP11C, ABCG5, ABCG8, LPIN2, CDAN1, NT5C3A, COL4A1, C15orf41, PIEZO1, EPB41, EPB42, AK1, ALAS2, G6PD, ALDOA, GATA1, GCLC, GPI, GPX1, GSS, GYPC, ANK1, HK1, KCNN4, KLF1, KIF23, PFKM, PGK1, PKLR Close Specificity 3 % Genes 100 %
Congenital Dyserythropoietic Anemia 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). SEC23B, LPIN2, CDAN1, C15orf41, ALAS2, GATA1, KLF1, KIF23 Specificity 13 % Genes 100 %
Congenital Dyserythropoietic Anemia Deletion/Duplication Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). SEC23B, LPIN2, CDAN1, C15orf41, GATA1, KLF1, KIF23 Specificity 15 % Genes 100 %
Hemolytic Anemia Deletion/Duplication Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). RHAG, SEC23B, SLC2A1, SPTA1, SPTB, TPI1, XK, ABCG5, ABCG8, LPIN2, CDAN1, NT5C3A, C15orf41, PIEZO1, EPB41, EPB42, AK1, G6PD, ALDOA, GATA1 , (...) View the complete list with 12 more genes Panel complete gene list RHAG, SEC23B, SLC2A1, SPTA1, SPTB, TPI1, XK, ABCG5, ABCG8, LPIN2, CDAN1, NT5C3A, C15orf41, PIEZO1, EPB41, EPB42, AK1, G6PD, ALDOA, GATA1, GCLC, GPI, GPX1, GSS, GYPC, ANK1, HK1, KLF1, KIF23, PFKM, PGK1, PKLR Close Specificity 4 % Genes 100 %
LPIN2 Deletion/duplication analysis. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). LPIN2 Specificity 100 % Genes 100 %
LPIN2 Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). LPIN2 Specificity 100 % Genes 100 %
LPIN2. By Institute for Human Genetics University Clinic Freiburg (Germany). LPIN2 Specificity 100 % Genes 100 %
Periodic Fever Syndromes Panel, Sequencing and Deletion/Duplication. By ARUP Laboratories, Molecular Genetics and Genomics (United States). TNFRSF1A, LPIN2, NLRP3, ELANE, MEFV, MVK, PSTPIP1 Specificity 15 % Genes 100 %

Sources and references

You can check the following sources for additional information.

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NEPHROTIC SYNDROME, TYPE 11; NPHS11 DEHYDRATED HEREDITARY STOMATOCYTOSIS 2; DHS2