MCID: ZNC006
MIFTS: 20

Zinc, Elevated Plasma

Categories: Bone diseases, Genetic diseases, Metabolic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Zinc, Elevated Plasma

MalaCards integrated aliases for Zinc, Elevated Plasma:

Name: Zinc, Elevated Plasma 57 39
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:

Orphanet epidemiological data:

58
hyperzincemia and hypercalprotectinemia
Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant
? albumin gene (103600) mutation


HPO:

31
zinc, elevated plasma:
Inheritance autosomal dominant inheritance


Classifications:

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


External Ids:

OMIM® 57 194470
ICD10 via Orphanet 33 E83.2
UMLS via Orphanet 71 C1860229
Orphanet 58 ORPHA251523
MedGen 41 C1860228
SNOMED-CT via HPO 68 263681008

Summaries for Zinc, Elevated Plasma

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

More information from OMIM: 194470

Related Diseases for Zinc, Elevated Plasma

Diseases related to Zinc, Elevated Plasma via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 macrophage activation syndrome 10.4
2 hyperprolactinemia 10.2
3 deficiency anemia 10.2
4 microcytic anemia 10.2
5 neutropenia 10.2
6 iron metabolism disease 10.2
7 hemoglobinopathy 10.2
8 pyoderma 10.2
9 pyoderma gangrenosum 10.2
10 myelodysplastic syndrome 10.0
11 graft-versus-host disease 10.0
12 pancytopenia 10.0
13 hemolytic anemia 10.0
14 acne 10.0
15 chronic graft versus host disease 10.0

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:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 31 HP:0001939

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Lab:
elevated plasma zinc
increased zinc binding to albumin
copper and iron not increased

Clinical features from OMIM®:

194470 (Updated 05-Apr-2021)

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

MalaCards organs/tissues related to Zinc, Elevated Plasma:

40
Myeloid

Publications for Zinc, Elevated Plasma

Articles related to Zinc, Elevated Plasma:

(show all 11)
# 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
Phenotypic Associations of PSTPIP1 Sequence Variants in PSTPIP1-Associated Autoinflammatory Diseases. 61
33218716 2020
9
PAPA spectrum disorders. 61
32618443 2020
10
Colchicine-Induced Macrophage Activation Syndrome in an Adolescent Female Patient With PSTPIP1-Associated Myeloid-Related Proteinemia Inflammatory Syndrome. 61
33295717 2020
11
PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome: A rare cause of childhood neutropenia associated with systemic inflammation and hyperzincemia. 61
30198636 2019

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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