Zinc, Elevated Plasma disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Metabolic diseases Rare diseases Genetic diseases
Anatomical: Bone diseases Skin diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Disorders of mineral metabolism

Disorders of zinc metabolism

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

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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

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Related Diseases for Zinc, Elevated Plasma

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

(show all 25)

#	Related Disease	Score
1	ludwig's angina	10.4
2	macrophage activation syndrome	10.4
3	splenomegaly	10.4
4	hyperprolactinemia	10.2
5	deficiency anemia	10.2
6	microcytic anemia	10.2
7	neutropenia	10.2
8	iron metabolism disease	10.2
9	hemoglobinopathy	10.2
10	pyoderma	10.2
11	pyoderma gangrenosum	10.2
12	polydactyly, postaxial, type a1	10.2
13	pyogenic sterile arthritis, pyoderma gangrenosum, and acne	10.1
14	hemolytic anemia	10.1
15	anemia, autoimmune hemolytic	10.0
16	hemophagocytic lymphohistiocytosis, familial, 1	10.0
17	autoimmune lymphoproliferative syndrome	10.0
18	aplastic anemia	10.0
19	myelodysplastic syndrome	10.0
20	graft-versus-host disease	10.0
21	aortic valve disease 2	10.0
22	osteonecrosis	10.0
23	pancytopenia	10.0
24	acne	10.0
25	chronic graft versus host disease	10.0

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

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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)

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Drugs & Therapeutics for Zinc, Elevated Plasma

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

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Genetic Tests for Zinc, Elevated Plasma

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Anatomical Context for Zinc, Elevated Plasma

Organs/tissues related to Zinc, Elevated Plasma:

MalaCards : Myeloid, Skin, Bone, Kidney

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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	Stewart AJ...Sadler PJ	12598656	2003
2	Hyperzincaemia and hypercalprotectinaemia: a new disorder of zinc metabolism. ⁵⁷	Sampson B...Roth J	12480428	2002
3	Hyperzincemia with systemic inflammation: a heritable disorder of calprotectin metabolism with rheumatic manifestations? ⁵⁷	Saito Y...Osawa M	11865286	2002
4	A case of hyperzincemia with functional zinc depletion: a new disorder? ⁵⁷	Sampson B...Green C	9262226	1997
5	Hyperzincemia in a patient with pyoderma gangrenosum. ⁵⁷	Hambidge KM...Catalanotto FA	3973783	1985
6	Characterization of zinc-binding proteins of plasma in familial hyperzincemia. ⁵⁷	Failla ML...Smith JC	6815290	1982
7	Elevated plasmz zinc: a heritable anomaly. ⁵⁷	Smith JC...Ong SC	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	Whiteside BG...Al-Abadi E	35840971	2022
9	PAMI Syndrome: Two Cases of an Autoinflammatory Disease with an ALPS-Like Phenotype. ⁶²	Cox F...Conlon N	35438416	2022
10	Strong inflammatory signatures in the neutrophils of PAMI syndrome. ⁶²	Zheng W...Li X	36203570	2022
11	Colchicine-Induced Macrophage Activation Syndrome in an Adolescent Female Patient With PSTPIP1-Associated Myeloid-Related Proteinemia Inflammatory Syndrome. ⁶²	Fotis L...Fessatou S	33295717	2021
12	PAMI syndrome: A rare cause that can be easily misdiagnosed. ⁶²	Xu XM...Jin YL	34047005	2021
13	Clinical and genetic characteristics of PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome. ⁶²	Zhang D...Lai J	34620178	2021
14	Immunological repertoire linked to PSTPIP1-associated myeloid-related inflammatory (PAMI) syndrome. ⁶²	Mendonca LO...Castro FFM	34399798	2021
15	HSCT is effective in patients with PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome. ⁶²	Laberko A...Shcherbina A	33338535	2021
16	Phenotypic Associations of PSTPIP1 Sequence Variants in PSTPIP1-Associated Autoinflammatory Diseases. ⁶²	Boursier G...Touitou I	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	Huang X...Li L	33458872	2021
18	Hemolysis and Neurologic Impairment in PAMI Syndrome: Novel Characteristics of an Elusive Disease. ⁶²	Del Borrello G...Dufour C	33597285	2021
19	Kidney Involvement in PSTPIP1 Associated Inflammatory Diseases (PAID): A Case Report and Review of the Literature. ⁶²	Borgia P...Gattorno M	34778321	2021
20	PAPA spectrum disorders. ⁶²	Genovese G...Marzano AV	32618443	2020
21	Extensive pyoderma gangrenosum-like lesions revealing a case of hyperzincemia and hypercalprotectinemia: when to suspect it? ⁶²	Resende LO...Schmitt JV	31789267	2019
22	PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome: A rare cause of childhood neutropenia associated with systemic inflammation and hyperzincemia. ⁶²	Hashmi SK...Diaz R	30198636	2019
23	The expanding spectrum of clinical phenotypes associated with PSTPIP1 mutations: from PAPA to PAMI syndrome and beyond. ⁶²	Klotgen HW...Borradori L	29150835	2018
24	Haematological involvement associated with a mild autoinflammatory phenotype, in two patients carrying the E250K mutation of PSTPIP1. ⁶²	Belelli E...Insalaco A	28628471	2017
25	Alarming consequences - autoinflammatory disease spectrum due to mutations in proline-serine-threonine phosphatase-interacting protein 1. ⁶²	Holzinger D...Roth J	27464597	2016
26	Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)-associated inflammatory diseases. ⁶²	Holzinger D...Roth J	26025129	2015
27	The role of calprotectin in pediatric disease. ⁶²	Vaos G...Chatzemichael A	24175291	2013
28	Hyperzincemia and hypercalprotectinemia: unsuccessful treatment with tacrolimus. ⁶²	Isidor B...Picherot G	18983438	2009
29	Severe anemia and neutropenia associated with hyperzincemia and hypercalprotectinemia. ⁶²	Fessatou S...Papassotiriou I	16189440	2005
30	[Effect of 7 d head down bed rest on cardiopulmonary circulation in human]. ⁶²	Wang D...Dong Q	11541417	1998

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Genes for Zinc, Elevated Plasma

Genes related to Zinc, Elevated Plasma (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	PSTPIP1	Proline-Serine-Threonine Phosphatase Interacting Protein 1	Protein Coding	350	Causative germline mutation ⁵⁸	26025129

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Variations for Zinc, Elevated Plasma

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Expression for Zinc, Elevated Plasma

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

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Pathways for Zinc, Elevated Plasma

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GO Terms for Zinc, Elevated Plasma

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Sources for Zinc, Elevated Plasma

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⁵⁷ OMIM® (Updated 08-Dec-2022)

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MCID: ZNC006 MIFTS: 24	Zinc, Elevated Plasma Categories: Bone diseases, Genetic diseases, Metabolic diseases, Rare diseases, Skin diseases	Data Licensing For inquiries, contact: [email protected]
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