MCID: ZNC004
MIFTS: 23

Zinc Deficiency, Transient Neonatal

Categories: Genetic diseases

Aliases & Classifications for Zinc Deficiency, Transient Neonatal

MalaCards integrated aliases for Zinc Deficiency, Transient Neonatal:

Name: Zinc Deficiency, Transient Neonatal 57 75 29 13 6 40
Zinc Deficiency, Neonatal, Due to Low Breast Milk Zinc 57 73
Tnzd 57 75
Neonatal Zinc Deficiency Due to Low Breast Milk Zinc 75
Transient Neonatal Zinc Deficiency 37

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
reduced zinc in affected mother's breast milk is unresponsive to oral zinc supplementation
symptoms of zinc deficiency occur only in exclusively breastfed infants
dermatitis resolves in offspring after zinc supplementation and/or weaning
zinc deficiency in breastfed offspring resolves after weaning
mother who carries the mutation is clinically unaffected


HPO:

32
zinc deficiency, transient neonatal:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 608118
MeSH 44 D008664
KEGG 37 H01925
UMLS 73 C1842486

Summaries for Zinc Deficiency, Transient Neonatal

OMIM : 57 Transient neonatal zinc deficiency occurs in breast-fed infants as a consequence of low milk zinc concentration in their nursing mothers, which cannot be corrected by maternal zinc supplementation. A large amount of zinc, an essential trace mineral, is required for normal growth particularly in infants, and breast milk normally contains adequate zinc to meet the requirement for infants up to 4 to 6 months of age. Zinc deficiency can lead to dermatitis, alopecia, decreased growth, and impaired immune function. The disorder shows autosomal dominant inheritance with incomplete penetrance (summary by Chowanadisai et al., 2006). Some aspects of TNZD resemble the more severe disorder acrodermatitis enteropathica (AEZ; 201100), an autosomal recessive disorder caused by mutation in the zinc transporter SLC39A4 (607059). However, infants with transient neonatal zinc deficiency do not require zinc supplementation following weaning and have normal zinc absorption, whereas those with AEZ require lifelong zinc supplementation (summary by Chowanadisai et al., 2006). (608118)

MalaCards based summary : Zinc Deficiency, Transient Neonatal, also known as zinc deficiency, neonatal, due to low breast milk zinc, is related to enteropathica and acrodermatitis enteropathica, zinc-deficiency type. An important gene associated with Zinc Deficiency, Transient Neonatal is SLC30A2 (Solute Carrier Family 30 Member 2). Affiliated tissues include breast and skin, and related phenotypes are abnormality of the skin and eczema

UniProtKB/Swiss-Prot : 75 Zinc deficiency, transient neonatal: A disorder occurring in breast-fed infants as a consequence of low milk zinc concentration in their nursing mothers, which cannot be corrected by maternal zinc supplementation. A large amount of zinc, an essential trace mineral, is required for normal growth particularly in infants, and breast milk normally contains adequate zinc to meet the requirement for infants up to 4 to 6 months of age. Zinc deficiency can lead to dermatitis, alopecia, decreased growth, and impaired immune function. The disorder shows autosomal dominant inheritance with incomplete penetrance.

Related Diseases for Zinc Deficiency, Transient Neonatal

Diseases related to Zinc Deficiency, Transient Neonatal via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 enteropathica 9.8
2 acrodermatitis enteropathica, zinc-deficiency type 9.8
3 acrodermatitis 9.8

Symptoms & Phenotypes for Zinc Deficiency, Transient Neonatal

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
dermatitis
acrodermatitis enteropathica, transient, seen in breastfed offspring of affected mothers

Laboratory Abnormalities:
affected mother has reduced zinc levels in breast milk (may be up to 40% less than normal breast milk)
affected mother has normal plasma zinc levels and is not zinc-deficient
breastfed offspring have transient decrease of plasma zinc levels

Skin Nails Hair Hair:
alopecia, partial


Clinical features from OMIM:

608118

Human phenotypes related to Zinc Deficiency, Transient Neonatal:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of the skin 32 HP:0000951
2 eczema 32 HP:0000964
3 abnormal intestine morphology 32 HP:0002242
4 abnormality of zinc homeostasis 32 HP:0008277

Drugs & Therapeutics for Zinc Deficiency, Transient Neonatal

Search Clinical Trials , NIH Clinical Center for Zinc Deficiency, Transient Neonatal

Genetic Tests for Zinc Deficiency, Transient Neonatal

Genetic tests related to Zinc Deficiency, Transient Neonatal:

# Genetic test Affiliating Genes
1 Zinc Deficiency, Transient Neonatal 29 SLC30A2

Anatomical Context for Zinc Deficiency, Transient Neonatal

MalaCards organs/tissues related to Zinc Deficiency, Transient Neonatal:

41
Breast, Skin

Publications for Zinc Deficiency, Transient Neonatal

Articles related to Zinc Deficiency, Transient Neonatal:

# Title Authors Year
1
The role of the zinc transporter SLC30A2/ZnT2 in transient neonatal zinc deficiency. ( 28665435 )
2017
2
Novel mutations in SLC30A2 involved in the pathogenesis of transient neonatal zinc deficiency. ( 27304099 )
2016
3
Molecular Basis of Transient Neonatal Zinc Deficiency: NOVEL ZnT2 MUTATIONS DISRUPTING ZINC BINDING AND PERMEATION. ( 27137936 )
2016
4
Genetic causes and genea89nutrient interactions in mammalian zinc deficiencies: acrodermatitis enteropathica and transient neonatal zinc deficiency as examples. ( 25468189 )
2015
5
Transient neonatal zinc deficiency due to a new autosomal dominant mutation in gene SLC30A2 (ZnT-2). ( 24456035 )
2014
6
A dominant negative heterozygous G87R mutation in the zinc transporter, ZnT-2 (SLC30A2), results in transient neonatal zinc deficiency. ( 22733820 )
2012
7
Identification of a mutation in SLC30A2 (ZnT-2) in women with low milk zinc concentration that results in transient neonatal zinc deficiency. ( 17065149 )
2006

Variations for Zinc Deficiency, Transient Neonatal

UniProtKB/Swiss-Prot genetic disease variations for Zinc Deficiency, Transient Neonatal:

75
# Symbol AA change Variation ID SNP ID
1 SLC30A2 p.His54Arg VAR_069309 rs587776926
2 SLC30A2 p.Gly87Arg VAR_069310 rs185398527

ClinVar genetic disease variations for Zinc Deficiency, Transient Neonatal:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC30A2 NM_001004434.2(SLC30A2): c.161A> G (p.His54Arg) single nucleotide variant Pathogenic rs587776926 GRCh37 Chromosome 1, 26371598: 26371598
2 SLC30A2 NM_001004434.2(SLC30A2): c.161A> G (p.His54Arg) single nucleotide variant Pathogenic rs587776926 GRCh38 Chromosome 1, 26045107: 26045107
3 SLC30A2 SLC30A2, GLY87ARG single nucleotide variant Pathogenic

Expression for Zinc Deficiency, Transient Neonatal

Search GEO for disease gene expression data for Zinc Deficiency, Transient Neonatal.

Pathways for Zinc Deficiency, Transient Neonatal

GO Terms for Zinc Deficiency, Transient Neonatal

Sources for Zinc Deficiency, Transient Neonatal

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17 ExPASy
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30 HGMD
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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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