MCID: ZNC006
MIFTS: 17

Zinc, Elevated Plasma

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

Aliases & Classifications for Zinc, Elevated Plasma

MalaCards integrated aliases for Zinc, Elevated Plasma:

Name: Zinc, Elevated Plasma 57 40
Recurrent Infections-Inflammatory Syndrome Due to Zinc Metabolism Disorder Syndrome 59
Hyperzincemia and Hypercalprotectinemia 59
Hyperzincemia, Familial Dysalbuminemic 57
Albumin Binding of Zinc, Elevated 57

Characteristics:

Orphanet epidemiological data:

59
hyperzincemia and hypercalprotectinemia
Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant
? albumin gene (103600) mutation


HPO:

32
zinc, elevated plasma:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 194470
Orphanet 59 ORPHA251523
UMLS via Orphanet 74 C1860229
ICD10 via Orphanet 34 E83.2
MedGen 42 C1860228
SNOMED-CT via HPO 69 263681008

Summaries for Zinc, Elevated Plasma

MalaCards based summary : Zinc, Elevated Plasma, also known as recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome, is related to neutropenia. An important gene associated with Zinc, Elevated Plasma is PSTPIP1 (Proline-Serine-Threonine Phosphatase Interacting Protein 1). Affiliated tissues include skin and bone, and related phenotype is abnormality of metabolism/homeostasis.

Description 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:

# Related Disease Score Top Affiliating Genes
1 neutropenia 10.2

Symptoms & Phenotypes for Zinc, Elevated Plasma

Symptoms via clinical synopsis from OMIM:

57
Lab:
elevated plasma zinc
increased zinc binding to albumin
copper and iron not increased


Clinical features from OMIM:

194470

Human phenotypes related to Zinc, Elevated Plasma:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 32 HP:0001939

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:

41
Skin, Bone

Publications for Zinc, Elevated Plasma

Articles related to Zinc, Elevated Plasma:

# Title Authors Year
1
Severe anemia and neutropenia associated with hyperzincemia and hypercalprotectinemia. ( 16189440 )
2005

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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