TNZD
MCID: ZNC004
MIFTS: 25

Zinc Deficiency, Transient Neonatal (TNZD)

Categories: Gastrointestinal diseases, Genetic diseases, Immune diseases, Skin diseases

Aliases & Classifications for Zinc Deficiency, Transient Neonatal

MalaCards integrated aliases for Zinc Deficiency, Transient Neonatal:

Name: Zinc Deficiency, Transient Neonatal 57 74 29 13 6 40
Zinc Deficiency, Neonatal, Due to Low Breast Milk Zinc 57 72
Tnzd 57 74
Neonatal Zinc Deficiency Due to Low Breast Milk Zinc 74
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
KEGG 37 H01925
MeSH 44 D008664
UMLS 72 C1842486

Summaries for Zinc Deficiency, Transient Neonatal

KEGG : 37
Transient neonatal zinc deficiency (TNZD) is a disorder caused by loss-of-function mutations of the zinc transporter SLC30A2/ZnT2 gene, which results in low zinc breast milk in the mother, consequently causing zinc deficiency in the breast-fed infant. The main initial symptoms of zinc deficiency are dermatitis, diarrhea, alopecia, and loss of appetite. Currently, at least two zinc transporters from separate protein families are now known to be involved in the genetics of zinc deficiency. One is SLC39A4/ZIP4, which mutations can cause acrodermatitis enteropathica (AEZ) [DS:H00212] with autosomal recessive inheritance. The other one is SLC30A2/ZnT2, the transporter responsible for supplying human milk with zinc. Mutations in this transporter cause TNZD with symptoms similar to AE but with autosomal dominant inheritance. The two diseases can be distinguished in affected infants. AE is fatal if zinc is not supplied to the infant after weaning, whereas TNZD is a genetic defect of the mother limiting the supply of zinc in the milk, and therefore the infant usually will obtain enough zinc once weaned. Furthermore, the mothers' blood zinc levels are normal, and zinc supplementation to the mother's diet fails to improve the zinc levels in the breast milk.

MalaCards based summary : Zinc Deficiency, Transient Neonatal, also known as zinc deficiency, neonatal, due to low breast milk zinc, is related to acrodermatitis enteropathica, zinc-deficiency type and acrodermatitis. 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 eczema and abnormality of the skin

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)

UniProtKB/Swiss-Prot : 74 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 acrodermatitis enteropathica, zinc-deficiency type 10.1
2 acrodermatitis 10.1
3 enteropathica 10.1
4 exanthem 9.9
5 skin disease 9.9
6 alopecia 9.9

Graphical network of the top 20 diseases related to Zinc Deficiency, Transient Neonatal:



Diseases related to Zinc Deficiency, Transient Neonatal

Symptoms & Phenotypes for Zinc Deficiency, Transient Neonatal

Human phenotypes related to Zinc Deficiency, Transient Neonatal:

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

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

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:

(show all 15)
# Title Authors PMID Year
1
A dominant negative heterozygous G87R mutation in the zinc transporter, ZnT-2 (SLC30A2), results in transient neonatal zinc deficiency. 38 8 71
22733820 2012
2
Identification of a mutation in SLC30A2 (ZnT-2) in women with low milk zinc concentration that results in transient neonatal zinc deficiency. 8 71
17065149 2006
3
Analysis of zinc transporter, hZnT4 ( Slc30A4), gene expression in a mammary gland disorder leading to reduced zinc secretion into milk. 8
12743795 2003
4
Acquired zinc deficiency in breast-fed infants. 8
1764359 1991
5
Self-limiting acrodermatitis enteropathica. A follow-up study of three interrelated families. 8
3220631 1988
6
Transient zinc deficiency in two full-term breast-fed siblings associated with low maternal breast milk zinc concentration. 8
3380757 1988
7
Acrodermatitis enteropathica. 8
6413773 1983
8
Symptomatic zinc deficiency in a breast-fed preterm infant. 8
7192074 1980
9
High proportion of transient neonatal zinc deficiency causing alleles in the general population. 38
30450693 2019
10
The role of the zinc transporter SLC30A2/ZnT2 in transient neonatal zinc deficiency. 38
28665435 2017
11
Novel mutations in SLC30A2 involved in the pathogenesis of transient neonatal zinc deficiency. 38
27304099 2016
12
Molecular Basis of Transient Neonatal Zinc Deficiency: NOVEL ZnT2 MUTATIONS DISRUPTING ZINC BINDING AND PERMEATION. 38
27137936 2016
13
Overview of Inherited Zinc Deficiency in Infants and Children. 38
26598882 2015
14
Genetic causes and gene–nutrient interactions in mammalian zinc deficiencies: acrodermatitis enteropathica and transient neonatal zinc deficiency as examples. 38
25468189 2015
15
Transient neonatal zinc deficiency due to a new autosomal dominant mutation in gene SLC30A2 (ZnT-2). 38
24456035 2014

Variations for Zinc Deficiency, Transient Neonatal

ClinVar genetic disease variations for Zinc Deficiency, Transient Neonatal:

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

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

74
# Symbol AA change Variation ID SNP ID
1 SLC30A2 p.His54Arg VAR_069309 rs587776926
2 SLC30A2 p.Gly87Arg VAR_069310 rs185398527

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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