Erythrocyte Amp Deaminase Deficiency

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

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

Genes related to Erythrocyte Amp Deaminase Deficiency

AMPD3

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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 Panel complete gene list RYR1, RYR2, SGCA, SGCB, SGCD, SGCE, SGCG, TCAP, TNNI2, TNNT1, TPM2, TPM3, MYOT, TTN, ACTA1, CAPN3, CAV3, SELENON, TRIM32, FKRP, POMGNT1, POMT2, COL6A1, COL6A2, COL6A3, GNE, SIL1, ANO5, DES, DMD, DYSF, EMD, FKTN, ISPD, GAA, AMPD1, AMPD3, ITGA7, LAMA2, LARGE1, LMNA, NEB, PLEC, PMM2, POMT1, PYGM 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 Panel complete gene list RYR1, RYR2, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, TCAP, TNNI2, TNNT1, TPM2, TPM3, MYOT, TTN, VRK1, ACTA1, CAPN3, CAV3, LDB3, BSCL2, SELENON, TRIM32, SYNE1, FKRP, CFL2, CHAT, POMGNT1, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, POMT2, COL6A1, COL6A2, COL6A3, COLQ, GNE, CRYAB, SIL1, MTMR14, DOK7, DAG1, ANO5, DES, PLEKHG5, DMD, DNM2, DYSF, EMD, FKTN, FHL1, ISPD, FLNC, GAA, GLE1, AMPD1, AMPD3, IGHMBP2, ITGA7, LAMA2, LARGE1, LMNA, MTM1, MUSK, MYH2, MYH7, NEB, PABPN1, PLEC, PMM2, POMT1, BAG3, CAVIN1, PYGM, RAPSN 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 Panel complete gene list RYR1, RYR2, SGCA, SGCB, SGCD, SGCE, SGCG, TCAP, TNNI2, TNNT1, TPM2, TPM3, MYOT, TTN, ACTA1, CAPN3, CAV3, SELENON, TRIM32, FKRP, POMGNT1, POMT2, COL6A1, COL6A2, COL6A3, PEX26, SIL1, ANO5, DES, DMD, DYSF, EMD, FKTN, AMPD1, AMPD3, ITGA7, LAMA2, LARGE1, LMNA, NEB, PEX1, PEX12, PEX14, PEX3, PEX6, PLEC, PMM2, POMT1, PEX2, PEX5 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 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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