MCID: ZNC006
MIFTS: 24

Zinc, Elevated Plasma

Categories: Bone diseases, Genetic diseases, Metabolic diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Zinc, Elevated Plasma

MalaCards integrated aliases for Zinc, Elevated Plasma:

Name: Zinc, Elevated Plasma 57 38
Pstpip1-Associated Myeloid-Related Proteinemia Inflammatory Syndrome 58
Hyperzincemia and Hypercalprotectinemia 58
Hyperzincemia, Familial Dysalbuminemic 57
Albumin Binding of Zinc, Elevated 57
Pami Syndrome 58
Hz/hc 58

Characteristics:


Inheritance:

Autosomal dominant 57

Prevelance:

Hyperzincemia and Hypercalprotectinemia: <1/1000000 (Worldwide) 58

Age Of Onset:

Hyperzincemia and Hypercalprotectinemia: Childhood 58

Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases
Rare skin diseases
Inborn errors of metabolism


External Ids:

OMIM® 57 194470
ICD10 via Orphanet 32 E83.2
UMLS via Orphanet 72 C1860229
Orphanet 58 ORPHA251523
MedGen 40 C1860228

Summaries for Zinc, Elevated Plasma

Orphanet: 58 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.

MalaCards based summary: Zinc, Elevated Plasma, also known as pstpip1-associated myeloid-related proteinemia inflammatory syndrome, is related to ludwig's angina and macrophage activation syndrome. An important gene associated with Zinc, Elevated Plasma is PSTPIP1 (Proline-Serine-Threonine Phosphatase Interacting Protein 1). Affiliated tissues include myeloid, skin and bone, and related phenotype is abnormality of metabolism/homeostasis.

More information from OMIM: 194470

Related Diseases for Zinc, Elevated Plasma

Graphical network of the top 20 diseases related to Zinc, Elevated Plasma:



Diseases related to Zinc, Elevated Plasma

Symptoms & Phenotypes for Zinc, Elevated Plasma

Human phenotypes related to Zinc, Elevated Plasma:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 30 HP:0001939

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Lab:
elevated plasma zinc
increased zinc binding to albumin
copper and iron not increased

Clinical features from OMIM®:

194470 (Updated 08-Dec-2022)

Drugs & Therapeutics for Zinc, Elevated Plasma

Search Clinical Trials, NIH Clinical Center for Zinc, Elevated Plasma

Genetic Tests for Zinc, Elevated Plasma

Anatomical Context for Zinc, Elevated Plasma

Organs/tissues related to Zinc, Elevated Plasma:

MalaCards : Myeloid, Skin, Bone, Kidney

Publications for Zinc, Elevated Plasma

Articles related to Zinc, Elevated Plasma:

(show all 30)
# Title Authors PMID Year
1
Interdomain zinc site on human albumin. 57
12598656 2003
2
Hyperzincaemia and hypercalprotectinaemia: a new disorder of zinc metabolism. 57
12480428 2002
3
Hyperzincemia with systemic inflammation: a heritable disorder of calprotectin metabolism with rheumatic manifestations? 57
11865286 2002
4
A case of hyperzincemia with functional zinc depletion: a new disorder? 57
9262226 1997
5
Hyperzincemia in a patient with pyoderma gangrenosum. 57
3973783 1985
6
Characterization of zinc-binding proteins of plasma in familial hyperzincemia. 57
6815290 1982
7
Elevated plasmz zinc: a heritable anomaly. 57
941021 1976
8
PSTPIP1-associated myeloid-related proteinaemia inflammatory (PAMI) syndrome; a case presenting as a perinatal event with early central nervous system involvement? 62
35840971 2022
9
PAMI Syndrome: Two Cases of an Autoinflammatory Disease with an ALPS-Like Phenotype. 62
35438416 2022
10
Strong inflammatory signatures in the neutrophils of PAMI syndrome. 62
36203570 2022
11
Colchicine-Induced Macrophage Activation Syndrome in an Adolescent Female Patient With PSTPIP1-Associated Myeloid-Related Proteinemia Inflammatory Syndrome. 62
33295717 2021
12
PAMI syndrome: A rare cause that can be easily misdiagnosed. 62
34047005 2021
13
Clinical and genetic characteristics of PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome. 62
34620178 2021
14
Immunological repertoire linked to PSTPIP1-associated myeloid-related inflammatory (PAMI) syndrome. 62
34399798 2021
15
HSCT is effective in patients with PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome. 62
33338535 2021
16
Phenotypic Associations of PSTPIP1 Sequence Variants in PSTPIP1-Associated Autoinflammatory Diseases. 62
33218716 2021
17
Rare cases of PAMI syndrome in both father and son with the same missense mutation in PSTPIP1 gene and literature review. 62
33458872 2021
18
Hemolysis and Neurologic Impairment in PAMI Syndrome: Novel Characteristics of an Elusive Disease. 62
33597285 2021
19
Kidney Involvement in PSTPIP1 Associated Inflammatory Diseases (PAID): A Case Report and Review of the Literature. 62
34778321 2021
20
PAPA spectrum disorders. 62
32618443 2020
21
Extensive pyoderma gangrenosum-like lesions revealing a case of hyperzincemia and hypercalprotectinemia: when to suspect it? 62
31789267 2019
22
PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome: A rare cause of childhood neutropenia associated with systemic inflammation and hyperzincemia. 62
30198636 2019
23
The expanding spectrum of clinical phenotypes associated with PSTPIP1 mutations: from PAPA to PAMI syndrome and beyond. 62
29150835 2018
24
Haematological involvement associated with a mild autoinflammatory phenotype, in two patients carrying the E250K mutation of PSTPIP1. 62
28628471 2017
25
Alarming consequences - autoinflammatory disease spectrum due to mutations in proline-serine-threonine phosphatase-interacting protein 1. 62
27464597 2016
26
Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)-associated inflammatory diseases. 62
26025129 2015
27
The role of calprotectin in pediatric disease. 62
24175291 2013
28
Hyperzincemia and hypercalprotectinemia: unsuccessful treatment with tacrolimus. 62
18983438 2009
29
Severe anemia and neutropenia associated with hyperzincemia and hypercalprotectinemia. 62
16189440 2005
30
[Effect of 7 d head down bed rest on cardiopulmonary circulation in human]. 62
11541417 1998

Variations for Zinc, Elevated Plasma

Expression for Zinc, Elevated Plasma

Search GEO for disease gene expression data for Zinc, Elevated Plasma.

Pathways for Zinc, Elevated Plasma

GO Terms for Zinc, Elevated Plasma

Sources for Zinc, Elevated Plasma

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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