TNZD
MCID: ZNC004
MIFTS: 23

Zinc Deficiency, Transient Neonatal (TNZD)

Categories: 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 58 76 30 13 6 41
Zinc Deficiency, Neonatal, Due to Low Breast Milk Zinc 58 74
Tnzd 58 76
Neonatal Zinc Deficiency Due to Low Breast Milk Zinc 76
Transient Neonatal Zinc Deficiency 38

Characteristics:

OMIM:

58
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:

33
zinc deficiency, transient neonatal:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 608118
KEGG 38 H01925
MeSH 45 D008664
UMLS 74 C1842486

Summaries for Zinc Deficiency, Transient Neonatal

OMIM : 58 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 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

UniProtKB/Swiss-Prot : 76 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 9.9
2 acrodermatitis 9.9
3 enteropathica 9.9

Symptoms & Phenotypes for Zinc Deficiency, Transient Neonatal

Human phenotypes related to Zinc Deficiency, Transient Neonatal:

33
# Description HPO Frequency HPO Source Accession
1 eczema 33 HP:0000964
2 abnormality of the skin 33 HP:0000951
3 abnormal intestine morphology 33 HP:0002242
4 abnormal blood zinc concentration 33 HP:0008277

Symptoms via clinical synopsis from OMIM:

58
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 30 SLC30A2

Anatomical Context for Zinc Deficiency, Transient Neonatal

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

42
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 gene–nutrient 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:

76
# 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....