TNZD
MCID: ZNC004
MIFTS: 24
|
Zinc Deficiency, Transient Neonatal (TNZD)
Categories:
Gastrointestinal diseases, Genetic diseases, Immune diseases, Skin diseases
|
|
MalaCards integrated aliases for Zinc Deficiency, Transient Neonatal:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
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:31Classifications:
MalaCards categories:
Global: Genetic diseases Anatomical: Gastrointestinal diseases Skin diseases Immune diseases |
KEGG :
36
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 related phenotypes are alopecia and decreased serum zinc 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 05-Mar-2021) UniProtKB/Swiss-Prot : 73 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. |
Diseases related to Zinc Deficiency, Transient Neonatal via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Zinc Deficiency, Transient Neonatal:![]() |
Human phenotypes related to Zinc Deficiency, Transient Neonatal:31
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:608118 (Updated 05-Mar-2021) |
|
MalaCards organs/tissues related to Zinc Deficiency, Transient Neonatal:40
Breast
|
Articles related to Zinc Deficiency, Transient Neonatal:(show all 16)
|
ClinVar genetic disease variations for Zinc Deficiency, Transient Neonatal:6
UniProtKB/Swiss-Prot genetic disease variations for Zinc Deficiency, Transient Neonatal:73
|
Search
GEO
for disease gene expression data for Zinc Deficiency, Transient Neonatal.
|
|
|