TNZD
MCID: ZNC004
MIFTS: 21

Zinc Deficiency, Transient Neonatal (TNZD)

Categories: Genetic diseases, Immune diseases, Skin diseases
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Aliases & Classifications for Zinc Deficiency, Transient Neonatal

MalaCards integrated aliases for Zinc Deficiency, Transient Neonatal:

Name: Zinc Deficiency, Transient Neonatal 57 73 28 5
Zinc Deficiency, Neonatal, Due to Low Breast Milk Zinc 57 71
Tnzd 57 73
Neonatal Zinc Deficiency Due to Low Breast Milk Zinc 73

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
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


Classifications:



External Ids:

OMIM® 57 608118
MeSH 43 D008664
UMLS 71 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) (Updated 08-Dec-2022)

MalaCards based summary: Zinc Deficiency, Transient Neonatal, is also known as zinc deficiency, neonatal, due to low breast milk zinc. An important gene associated with Zinc Deficiency, Transient Neonatal is SLC30A2 (Solute Carrier Family 30 Member 2). Affiliated tissues include breast, and related phenotypes are alopecia and decreased serum zinc

UniProtKB/Swiss-Prot: 73 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

Symptoms & Phenotypes for Zinc Deficiency, Transient Neonatal

Human phenotypes related to Zinc Deficiency, Transient Neonatal:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 alopecia 30 Very rare (1%) HP:0001596
2 decreased serum zinc 30 Very rare (1%) HP:0031831
3 eczema 30 HP:0000964

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 (Updated 08-Dec-2022)

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 28 SLC30A2

Anatomical Context for Zinc Deficiency, Transient Neonatal

Organs/tissues related to Zinc Deficiency, Transient Neonatal:

MalaCards : Breast

Publications for Zinc Deficiency, Transient Neonatal

Articles related to Zinc Deficiency, Transient Neonatal:

(show all 16)
# Title Authors PMID Year
1
A dominant negative heterozygous G87R mutation in the zinc transporter, ZnT-2 (SLC30A2), results in transient neonatal zinc deficiency. 62 57 5
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. 57 5
17065149 2006
3
Analysis of zinc transporter, hZnT4 ( Slc30A4), gene expression in a mammary gland disorder leading to reduced zinc secretion into milk. 57
12743795 2003
4
Acquired zinc deficiency in breast-fed infants. 57
1764359 1991
5
Self-limiting acrodermatitis enteropathica. A follow-up study of three interrelated families. 57
3220631 1988
6
Transient zinc deficiency in two full-term breast-fed siblings associated with low maternal breast milk zinc concentration. 57
3380757 1988
7
Acrodermatitis enteropathica. 57
6413773 1983
8
Symptomatic zinc deficiency in a breast-fed preterm infant. 57
7192074 1980
9
A novel homozygous mutation p.E88K in maternal SLC30A2 gene as a cause of transient neonatal zinc deficiency. 62
32278324 2020
10
High proportion of transient neonatal zinc deficiency causing alleles in the general population. 62
30450693 2019
11
The role of the zinc transporter SLC30A2/ZnT2 in transient neonatal zinc deficiency. 62
28665435 2017
12
Novel mutations in SLC30A2 involved in the pathogenesis of transient neonatal zinc deficiency. 62
27304099 2016
13
Molecular Basis of Transient Neonatal Zinc Deficiency: NOVEL ZnT2 MUTATIONS DISRUPTING ZINC BINDING AND PERMEATION. 62
27137936 2016
14
Genetic causes and gene–nutrient interactions in mammalian zinc deficiencies: acrodermatitis enteropathica and transient neonatal zinc deficiency as examples. 62
25468189 2015
15
Overview of Inherited Zinc Deficiency in Infants and Children. 62
26598882 2015
16
Transient neonatal zinc deficiency due to a new autosomal dominant mutation in gene SLC30A2 (ZnT-2). 62
24456035 2014

Variations for Zinc Deficiency, Transient Neonatal

ClinVar genetic disease variations for Zinc Deficiency, Transient Neonatal:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC30A2 NM_001004434.3(SLC30A2):c.161A>G (p.His54Arg) SNV Pathogenic
39552 rs587776926 GRCh37: 1:26371598-26371598
GRCh38: 1:26045107-26045107
2 SLC30A2 NM_001004434.3(SLC30A2):c.259G>A (p.Gly87Arg) SNV Pathogenic
39553 rs185398527 GRCh37: 1:26371500-26371500
GRCh38: 1:26045009-26045009
3 SLC30A2 NM_001004434.3(SLC30A2):c.215G>A (p.Arg72His) SNV Uncertain Significance
1032512 rs368255248 GRCh37: 1:26371544-26371544
GRCh38: 1:26045053-26045053

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

73
# 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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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