Erythrocyte Amp Deaminase Deficiency

Description

Complete deficiency of erythrocyte AMP deaminase is a clinically benign disorder (Ogasawara et al., 1987; Zydowo et al., 1989).

Clinical Features

Phenotypes and symptoms related to Erythrocyte Amp Deaminase Deficiency

  • Pain
  • Fatigue
  • Myalgia

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.

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.

Erythrocyte Amp Deaminase Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
AMP deaminase deficiency, erythrocytic.

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

AMPD3
Specificity
100 %
Genes
100 %
Adenosine Monophosphate Deaminase Deficiency, Erythrocytic: AMPD3 Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics (United States).

AMPD3
Specificity
100 %
Genes
100 %
Adenosine Monophosphate Deaminase Deficiency, Erythrocytic: AMPD3 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics (United States).

AMPD3
Specificity
100 %
Genes
100 %
Neuromuscular Disorders: Gene Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics (United States).

RYR1, RYR2, SGCA, SGCB, SGCD, SGCE, SGCG, TCAP, TNNI2, TNNT1, TPM2, TPM3, MYOT, TTN, ACTA1, CAPN3, CAV3, SELENON, TRIM32, FKRP , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
100 %
Expanded Neuromuscular Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics (United States).

RYR1, RYR2, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, TCAP, TNNI2, TNNT1, TPM2, TPM3, MYOT, TTN, VRK1, ACTA1, CAPN3, CAV3 , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
100 %
Neuromuscular NGS Panel.

By Fulgent Genetics Fulgent Genetics (United States).

RYR1, RYR2, SGCA, SGCB, SGCD, SGCE, SGCG, TCAP, TNNI2, TNNT1, TPM2, TPM3, MYOT, TTN, ACTA1, CAPN3, CAV3, SELENON, TRIM32, FKRP , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
AMPD3.

By Fulgent Genetics Fulgent Genetics (United States).

AMPD3
Specificity
100 %
Genes
100 %
ADENOSINE MONOPHOSPHATE DEAMINASE DEFICIENCY (MYOADENYLATE DEAMINASE DEFICIENCY).

By Laboratorio de Genetica Clinica SL (Spain).

AMPD1, AMPD3
Specificity
50 %
Genes
100 %

You can get up to 1 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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