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MCID: ZNC006
MIFTS: 17
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Zinc, Elevated Plasma
Categories:
Bone diseases, Skin diseases, Metabolic diseases, Rare diseases, Genetic diseases
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MalaCards integrated aliases for Zinc, Elevated Plasma:
Characteristics:Orphanet epidemiological data:59
hyperzincemia and hypercalprotectinemia
Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; HPO:32Classifications:
MalaCards categories:
Global: Metabolic diseases Rare diseases Genetic diseases Anatomical: Bone diseases Skin diseases
ICD10:
34
Orphanet: 59
Rare systemic and rhumatological diseases
Rare skin diseases
Inborn errors of metabolism
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MalaCards based summary
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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
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Diseases related to Zinc, Elevated Plasma via text searches within MalaCards or GeneCards Suite gene sharing:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:194470Human phenotypes related to Zinc, Elevated Plasma:32
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MalaCards organs/tissues related to Zinc, Elevated Plasma:41
Skin,
Bone
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Articles related to Zinc, Elevated Plasma:
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Search
GEO
for disease gene expression data for Zinc, Elevated Plasma.
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