1. Mendelian
  2. Rare Diseases
  3. MAJEED SYNDROME; MJDS

Majeed Syndrome; Mjds

Table of contents:

Genes related to Majeed Syndrome; Mjds

  • LPIN2

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Majeed Syndrome; Mjds

  • Growth delay
  • Anemia
  • Flexion contracture
  • Fever
  • Delayed skeletal maturation
  • Arthralgia
  • Hepatosplenomegaly
  • Skin rash
  • Inflammatory abnormality of the skin
  • Bone pain

And another 9 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

Majeed Syndrome; Mjds Is also known as chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and neutrophilic dermatosis.

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.

Majeed Syndrome; Mjds 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
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
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 %

You can get up to 28 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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