1. Mendelian
  2. Rare Diseases
  3. AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE; AGM7

Agammaglobulinemia 7, Autosomal Recessive; Agm7

Table of contents:

Genes related to Agammaglobulinemia 7, Autosomal Recessive; Agm7

  • PIK3R1

View recommended genes panels

Clinical Features

Phenotypes and symptoms related to Agammaglobulinemia 7, Autosomal Recessive; Agm7

  • Pneumonia
  • Recurrent respiratory infections
  • Arthritis
  • Erythema
  • Neutropenia
  • Inflammation of the large intestine
  • Agammaglobulinemia
  • Juvenile rheumatoid arthritis
  • Erythema nodosum

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

Agammaglobulinemia 7, Autosomal Recessive; Agm7 Is also known as agammaglobulinemia, autosomal recessive, due to pik3r1 defect.

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.

Agammaglobulinemia 7, Autosomal Recessive; Agm7 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
PIK3R1 Sequencing.

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

PIK3R1
Specificity
100 %
Genes
100 %
PIK3R1 Deletion/duplication analysis.

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

PIK3R1
Specificity
100 %
Genes
100 %
Partial Lipodystrophy Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

ZMPSTE24, CAV1, TBC1D4, CIDEC, ADRA2A, AKT2, LIPE, LMNA, LMNB2, PIK3R1, PLIN1, POLD1, PPARG, PSMB8
Specificity
8 %
Genes
100 %
Comprehensive Lipodystrophy Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

ZMPSTE24, CAV1, BSCL2, TBC1D4, CIDEC, ADRA2A, AGPAT2, FBN1, AKT2, KCNJ6, LIPE, LMNA, LMNB2, PIK3R1, PLIN1, POLD1, PPARG, PSMB8, CAVIN1
Specificity
6 %
Genes
100 %
Comprehensive Lipodystrophy Panel.

By Genetic Services Laboratory University of Chicago (United States).

ZMPSTE24, CAV1, BSCL2, TBC1D4, CIDEC, ADRA2A, AGPAT2, FBN1, AKT2, KCNJ6, LIPE, LMNA, LMNB2, PIK3R1, PLIN1, POLD1, PPARG, PSMB8, CAVIN1
Specificity
6 %
Genes
100 %
Partial Lipodystrophy Panel.

By Genetic Services Laboratory University of Chicago (United States).

ZMPSTE24, CAV1, TBC1D4, CIDEC, ADRA2A, AKT2, LIPE, LMNA, LMNB2, PIK3R1, PLIN1, POLD1, PPARG, PSMB8
Specificity
8 %
Genes
100 %
PIK3R1 sequencing.

By Genetic Services Laboratory University of Chicago (United States).

PIK3R1
Specificity
100 %
Genes
100 %
Primary Antibody Deficiency Panel, Sequencing and Deletion/Duplication.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

SH2D1A, BTK, CD40, CD40LG, UNG, VAV1, AICDA, BLNK, CD19, CD79A, CD79B, CD81, LRBA, TNFRSF13C, TNFRSF13B, ADA, LRRC8A, CR2, ICOS, IGHM , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %

You can get up to 50 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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