Zinc, Elevated Plasma

Description

Hyperzincemia and hypercalprotectinemia is a rare inborn error of zinc metabolism characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin. Patients typically present dermal ulcers or other cutaneous manifestations (e.g. inflammation) and arthralgia. Severe epistaxis and spontaneous hematomas have also been reported.

Clinical Features

Phenotypes and symptoms related to Zinc, Elevated Plasma

  • Abnormality of metabolism/homeostasis

Incidence and onset information

Not enough data available about incidence and published cases.


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Zinc, Elevated Plasma Recommended genes panels

Panel Name, Specifity and genes Tested/covered
PSTPIP1 Sequencing.

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

PSTPIP1
Specificity
100 %
Genes
100 %
PSTPIP1.

By Institute for Human Genetics University Clinic Freiburg in Germany.

PSTPIP1
Specificity
100 %
Genes
100 %
Periodic Fever Syndromes Panel, Sequencing, 7 Genes and Deletion/Duplication, 6 Genes.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

NLRP3, MVK, MEFV, ELANE, LPIN2, TNFRSF1A, PSTPIP1
Specificity
15 %
Genes
100 %
PSTPIP1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

PSTPIP1
Specificity
100 %
Genes
100 %
Pyogenic sterile arthritis, pyoderma gangrenosum, and acne (sequence analysis of PSTPIP1 gene).

By CGC Genetics in Portugal.

PSTPIP1
Specificity
100 %
Genes
100 %
Periodic Fever Syndromes Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

NLRP3, MVK, PSMB8, MEFV, NOD2, ELANE, LPIN2, TNFRSF1A, PSTPIP1, NLRP12, IL36RN, CARD14, TNFAIP3
Specificity
8 %
Genes
100 %
PAPA.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

PSTPIP1
Specificity
100 %
Genes
100 %
Autoinflammatory panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

NLRP3, MVK, PSMB8, MEFV, SH3BP2, NOD2, LPIN2, TNFRSF1A, IL10RA, IL10RB, PSTPIP1, NLRP12, IL36RN, NCSTN, PSENEN, IL1RN, NLRP7, IL10, PLCG2
Specificity
6 %
Genes
100 %
Pyogenic sterile arthritis, pyoderma gangrenosum, and acne.

By Centogene AG - the Rare Disease Company in Germany.

PSTPIP1
Specificity
100 %
Genes
100 %
Single gene testing PSTPIP1.

By CeGaT GmbH in Germany.

PSTPIP1
Specificity
100 %
Genes
100 %
Autoinflammatory diseases Panel.

By CeGaT GmbH in Germany.

HFE, NLRP3, MVK, PSMB8, MEFV, SH3BP2, NOD2, SLC29A3, LPIN2, TNFRSF1A, IL10RA, IL10RB, PSTPIP1, NLRP12, IL36RN, CARD14, IL1RN, IL10, RBCK1, PLCG2
Specificity
5 %
Genes
100 %
Invitae Periodic Fever Syndromes Panel.

By Invitae in United States.

NLRP3, MVK, PSMB8, MEFV, ELANE, LPIN2, TNFRSF1A, NLRC4, ADA2, PSTPIP1, NLRP12, TRNT1
Specificity
9 %
Genes
100 %
Invitae Primary Immunodeficiency Panel.

By Invitae in United States.

PMS2, STAT1, SLC37A4, CASP8, TLR3, HAX1, AP3B1, UNG, TAP1, TAZ, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
100 %
Invitae Autoinflammatory Syndromes Panel.

By Invitae in United States.

NLRP3, MVK, PSMB8, MEFV, SH3BP2, NOD2, SLC29A3, ELANE, LPIN2, TNFRSF1A, IL10RA, NLRC4, IL10RB, ADA2, PSTPIP1, NLRP12, TRNT1, IL36RN, CARD14, IL1RN , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, Syndrome: PSTPIP1 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

PSTPIP1
Specificity
100 %
Genes
100 %
Periodic fever syndromes.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

NLRP3, MVK, MEFV, ELANE, LPIN2, TNFRSF1A, PSTPIP1
Specificity
15 %
Genes
100 %
Hereditary Periodic Fever Syndromes: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

NLRP3, MVK, MEFV, ELANE, LPIN2, TNFRSF1A, PSTPIP1
Specificity
15 %
Genes
100 %
Hereditary Periodic Fever Syndromes: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

NLRP3, MVK, MEFV, ELANE, LPIN2, TNFRSF1A, PSTPIP1
Specificity
15 %
Genes
100 %
Periodic Fevers Syndrome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

NLRP3, MVK, MEFV, ELANE, LPIN2, TNFRSF1A, PSTPIP1
Specificity
15 %
Genes
100 %
PSTPIP1.

By Fulgent Genetics Fulgent Genetics in United States.

PSTPIP1
Specificity
100 %
Genes
100 %
Primary Immunodeficiency Panel.

By Blueprint Genetics in Finland.

PMS2, RECQL4, STAT1, SLC37A4, CASP8, CLCN7, HAX1, AP3B1, UNG, TAP1, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
100 %
Autoinflammatory Syndrome Panel.

By Blueprint Genetics in Finland.

SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, NLRP3, MVK, PSMB8, IFIH1, ADAR, MEFV, NOD2, SLC29A3, ELANE, LPIN2, TNFRSF1A, NLRC4, ISG15, PSTPIP1, NLRP12 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
Pyogenic arthritis - pyoderma gangrenosum - acne.

By Bioarray in Spain.

PSTPIP1
Specificity
100 %
Genes
100 %
Periodic Fever NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

NLRP3, MVK, MEFV, NOD2, ELANE, LPIN2, TNFRSF1A, PSTPIP1, NLRP12
Specificity
12 %
Genes
100 %
PSTPIP1 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

PSTPIP1
Specificity
100 %
Genes
100 %
PYOGENIC, ARTHRITIS, PYODERMA GANGRENOSUM AND ACNE.

By Laboratorio de Genetica Clinica SL in Spain.

PSTPIP1
Specificity
100 %
Genes
100 %
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum and Acne (PAPA), Sequencing PSTPIP1 Gene.

By Reference Laboratory Genetics in Spain.

PSTPIP1
Specificity
100 %
Genes
100 %
Hereditary Systemic Autoinflammatory Diseases , Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics in Spain.

NLRP3, MVK, MEFV, NOD2, TNFRSF1A, PSTPIP1
Specificity
17 %
Genes
100 %
Periodic Fever and Related Syndromes, Panel Massive Sequencing (NGS) 7 Genes.

By Reference Laboratory Genetics in Spain.

NLRP3, MVK, MEFV, ELANE, LPIN2, TNFRSF1A, PSTPIP1
Specificity
15 %
Genes
100 %

Alternate names

Zinc, Elevated Plasma Is also known as albumin binding of zinc, elevated, hyperzincemia, familial dysalbuminemic;recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome.



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